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<script type="text/javascript" src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.boots.min.js"> </script><title>LPIN2-Related Majeed Syndrome - GeneReviews® - NCBI Bookshelf</title>
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<meta name="citation_inbook_title" content="GeneReviews® [Internet]">
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<meta name="citation_title" content="LPIN2-Related Majeed Syndrome">
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<meta name="citation_publisher" content="University of Washington, Seattle">
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<meta name="citation_date" content="2023/03/02">
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<meta name="citation_author" content="Dhanya Lakshmi Narayanan">
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<meta name="citation_author" content="Kishore Sai Gogineni">
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<meta name="citation_author" content="Vaishnavi Ashok Badiger">
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<meta name="citation_keywords" content="Phosphatidate phosphatase LPIN2">
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<meta name="citation_keywords" content="LPIN2">
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<meta name="citation_keywords" content="LPIN2-Related Majeed Syndrome">
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<meta name="DC.Title" content="LPIN2-Related Majeed Syndrome">
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<meta name="DC.Publisher" content="University of Washington, Seattle">
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<meta name="DC.Contributor" content="Dhanya Lakshmi Narayanan">
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<meta name="DC.Contributor" content="Kishore Sai Gogineni">
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<meta name="DC.Contributor" content="Vaishnavi Ashok Badiger">
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<meta name="DC.Date" content="2023/03/02">
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<meta name="description" content="Individuals with LPIN2-related Majeed syndrome typically experience multisystem inflammatory symptoms, including chronic sterile multifocal osteomyelitis, recurrent bone pain, recurrent fever, failure to thrive, dyserythropoietic anemia, and neutrophilic dermatosis. Recurrent bone pain is frequently localized near the joints, often of the long bones of the lower extremities. Recurrent osteomyelitis with joint swelling can lead to subsequent joint contractures. Congenital dyserythropoietic, microcytic anemia can range from mild to severe and sometimes requires blood transfusion. Neutrophilic dermatosis typically presents as transient painful erythematous plaques, pustules, or nodules with neutrophilic infiltrates. Other features of LPIN2-related Majeed syndrome include the development of hepatosplenomegaly and gastrointestinal symptoms, such as recurrent abdominal pain and/or recurrent diarrhea. As more families are being described, individuals with milder features are now being recognized.">
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<meta name="og:description" content="Individuals with LPIN2-related Majeed syndrome typically experience multisystem inflammatory symptoms, including chronic sterile multifocal osteomyelitis, recurrent bone pain, recurrent fever, failure to thrive, dyserythropoietic anemia, and neutrophilic dermatosis. Recurrent bone pain is frequently localized near the joints, often of the long bones of the lower extremities. Recurrent osteomyelitis with joint swelling can lead to subsequent joint contractures. Congenital dyserythropoietic, microcytic anemia can range from mild to severe and sometimes requires blood transfusion. Neutrophilic dermatosis typically presents as transient painful erythematous plaques, pustules, or nodules with neutrophilic infiltrates. Other features of LPIN2-related Majeed syndrome include the development of hepatosplenomegaly and gastrointestinal symptoms, such as recurrent abdominal pain and/or recurrent diarrhea. As more families are being described, individuals with milder features are now being recognized.">
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class="wsprkl btn" title="Jump to next match">▶</a></nav></nav></div><div id="jr-epub-interstitial" class="hidden"></div><div id="jr-content"><article data-type="main"><div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><div class="fm-sec"><h1 id="_NBK589480_"><span class="title" itemprop="name"><i>LPIN2</i>-Related Majeed Syndrome</span></h1><p class="contribs">Narayanan DL, Gogineni KS, Badiger VA.</p><p class="fm-aai"><a href="#_NBK589480_pubdet_">Publication Details</a></p><p><em>Estimated reading time: 16 minutes</em></p></div></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="lpin2-majeed.Summary" itemprop="description"><h2 id="_lpin2-majeed_Summary_">Summary</h2><div><h4 class="inline">Clinical characteristics.</h4><p>Individuals with <i>LPIN2-</i>related Majeed syndrome typically experience multisystem inflammatory symptoms, including chronic sterile multifocal osteomyelitis, recurrent bone pain, recurrent fever, failure to thrive, dyserythropoietic anemia, and neutrophilic dermatosis. Recurrent bone pain is frequently localized near the joints, often of the long bones of the lower extremities. Recurrent osteomyelitis with joint swelling can lead to subsequent joint contractures. Congenital dyserythropoietic, microcytic anemia can range from mild to severe and sometimes requires blood transfusion. Neutrophilic dermatosis typically presents as transient painful erythematous plaques, pustules, or nodules with neutrophilic infiltrates. Other features of <i>LPIN2-</i>related Majeed syndrome include the development of hepatosplenomegaly and gastrointestinal symptoms, such as recurrent abdominal pain and/or recurrent diarrhea. As more families are being described, individuals with milder features are now being recognized.</p></div><div><h4 class="inline">Diagnosis/testing.</h4><p>The diagnosis of <i>LPIN2</i>-related Majeed syndrome is established in a proband with suggestive findings and biallelic pathogenic variants in <i>LPIN2</i> identified by molecular genetic testing.</p></div><div><h4 class="inline">Management.</h4><p><i>Treatment of manifestations</i>: Anti-inflammatory treatment decreases inflammation and reduces flare-ups. Anti-inflammatory drugs can include anti-interleukin-1 (anti-IL-1) therapy (anakinra 1.5 mg/kg/day with titration as needed or canakinumab 2 mg/kg every 4 or 8 weeks), nonsteroidal anti-inflammatory drugs, corticosteroids, or methotrexate. While one of the anti-IL-1 therapies is the drug of choice, these drugs may not be universally available. Severe anemia may require blood transfusion. Physical therapy and/or occupational therapy can help motor delays and joint contractures.</p><p><i>Surveillance</i>: Measurement of inflammatory markers (ESR, CRP) and growth parameters, assessment of range of motion of joints, and physical examination to assess for hepatosplenomegaly and dermatosis at each visit. Complete blood count (CBC) with differential to assess for anemia and neutropenia every six months. Abdominal ultrasound as clinically indicated to monitor those with hepatosplenomegaly.</p><p><i>Agents/circumstances to avoid</i>: For affected individuals managed with biologic or immunosuppressive medications, live-attenuated vaccines should be avoided, when possible.</p><p><i>Evaluations of relatives at risk</i>: It is appropriate to clarify the genetic status of apparently asymptomatic older and younger at-risk relatives of an affected individual to identify as early as possible those who would benefit from prompt initiation of anti-inflammatory treatment. Evaluations can include targeted molecular genetic testing (if the pathogenic variants in the family are known) or clinical assessment (history and physical exam for signs/symptoms of systemic inflammation, full skin examination for rashes, assessment of inflammatory markers [serum CRP and ESR], and CBC with differential) if the pathogenic variants in the family are not known.</p><p><i>Pregnancy management</i>: There is limited data on the safety of anakinra or canakinumab during human pregnancy, although no pattern of anomalies in exposed fetuses has been reported. The use of corticosteroids during human pregnancy has been associated with an increased risk of cleft lip with or without cleft palate. Methotrexate should be avoided in pregnancy, as it is known to be harmful to the developing fetus and can lead to pregnancy loss and/or birth defects.</p></div><div><h4 class="inline">Genetic counseling.</h4><p><i>LPIN2</i>-related Majeed syndrome is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for an <i>LPIN2</i> pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of inheriting neither of the familial pathogenic variants. Once the <i>LPIN2</i> pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives, prenatal testing for a pregnancy at increased risk, and preimplantation genetic testing are possible.</p></div></div><div id="lpin2-majeed.Diagnosis"><h2 id="_lpin2-majeed_Diagnosis_">Diagnosis</h2><p>No consensus clinical diagnostic criteria for <i>LPIN2</i>-related Majeed syndrome have been published.</p><div id="lpin2-majeed.Suggestive_Findings"><h3>Suggestive Findings</h3><p><i>LPIN2</i>-related Majeed syndrome <b>should be suspected</b> in individuals with the following clinical, supportive laboratory, imaging, and family history findings.</p><p>
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<b>Clinical findings</b>
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</p><ul><li class="half_rhythm"><div class="half_rhythm">Recurrent bone pain near the joints, often of the long bones of the lower extremities</div></li><li class="half_rhythm"><div class="half_rhythm">Joint swelling and subsequent joint contracture</div></li><li class="half_rhythm"><div class="half_rhythm">Chronic recurrent multifocal osteomyelitis that is sterile</div></li><li class="half_rhythm"><div class="half_rhythm">Neutrophilic dermatosis, which may present as painful erythematous plaques, pustules, or nodules with neutrophilic infiltrates</div><div class="half_rhythm">Note: This finding can be transient.</div></li><li class="half_rhythm"><div class="half_rhythm">Failure to thrive</div></li><li class="half_rhythm"><div class="half_rhythm">Recurrent fever</div></li><li class="half_rhythm"><div class="half_rhythm">Hepatosplenomegaly</div></li><li class="half_rhythm"><div class="half_rhythm">Gastrointestinal issues, including recurrent abdominal pain and/or recurrent diarrhea</div></li></ul><p>
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<b>Supportive laboratory findings</b>
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</p><ul><li class="half_rhythm"><div>Elevated erythrocyte sedimentation rate (ESR), typically above 100 mm/hr, and C-reactive protein (CRP), often above 50 mg/L</div></li><li class="half_rhythm"><div>Neutropenia</div></li><li class="half_rhythm"><div>Congenital dyserythropoietic, microcytic anemia, ranging from mild to severe, that sometimes requires blood transfusion</div></li><li class="half_rhythm"><div>Bone marrow biopsy that demonstrates erythroid hyperplasia with binuclearity or multinuclearity suggestive of congenital dyserythropeitic anemia</div><div>Note: Bone marrow biopsy is not required to make this diagnosis</div></li></ul><p><b>Imaging findings.</b> Radiographic evidence of chronic nonbacterial osteomyelitis</p><p><b>Family history</b> is consistent with autosomal recessive inheritance (e.g., affected sibs and/or parental consanguinity). Absence of a known family history does not preclude the diagnosis.</p></div><div id="lpin2-majeed.Establishing_the_Diagnosis"><h3>Establishing the Diagnosis</h3><p>The diagnosis of <i>LPIN2</i>-related Majeed syndrome <b>is established</b> in a proband with <a href="#lpin2-majeed.Suggestive_Findings">suggestive findings</a> and biallelic pathogenic (or likely pathogenic) variants in <i>LPIN2</i> identified by molecular genetic testing (see <a href="/books/NBK589480/table/lpin2-majeed.T.molecular_genetic_testing/?report=objectonly" target="object" rid-ob="figoblpin2majeedTmoleculargenetictesting">Table 1</a>).</p><p>Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variants" and "likely pathogenic variants" are synonymous in a clinical setting, meaning that both are considered diagnostic and both can be used for clinical decision making [<a class="bibr" href="#lpin2-majeed.REF.richards.2015.405" rid="lpin2-majeed.REF.richards.2015.405">Richards et al 2015</a>]. Reference to "pathogenic variants" in this section is understood to include any likely pathogenic variants. (2) Identification of biallelic <i>LPIN2</i> variants of uncertain significance (or of one known <i>LPIN2</i> pathogenic variant and one <i>LPIN2</i> variant of uncertain significance) does not establish or rule out the diagnosis.</p><p>Molecular genetic testing approaches can include a combination of <b>gene-targeted testing</b> (single-gene testing, multigene panel) and <b>comprehensive genomic testing</b> (exome sequencing, genome sequencing) depending on the phenotype.</p><p>Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Individuals with the distinctive findings described in <a href="#lpin2-majeed.Suggestive_Findings">Suggestive Findings</a> are likely to be diagnosed using gene-targeted testing (see <a href="#lpin2-majeed.Option_1">Option 1</a>), whereas those with a phenotype indistinguishable from many other inherited disorders with periodic fevers and/or autoinflammatory findings are more likely to be diagnosed using genomic testing (see <a href="#lpin2-majeed.Option_2">Option 2</a>).</p><div id="lpin2-majeed.Option_1"><h4>Option 1</h4><p>When the phenotypic and laboratory findings suggest the diagnosis of <i>LPIN2</i>-related Majeed syndrome, molecular genetic testing approaches can include <b>single-gene testing</b> or use of a <b>multigene panel</b>.</p><ul><li class="half_rhythm"><div class="half_rhythm"><b>Single-gene testing.</b> Sequence analysis of <i>LPIN2</i> is performed first to detect small intragenic deletions/insertions and missense, nonsense, and splice site variants. Note: Depending on the sequencing method used, single-exon, multiexon, or whole-gene deletions/duplications may not be detected. If only one or no variant is detected by the sequencing method used, the next step is to perform gene-targeted deletion/duplication analysis to detect exon and whole-gene deletions or duplications.</div></li><li class="half_rhythm"><div class="half_rhythm"><b>A monogenic autoinflammatory disease multigene panel</b> or <b>monogenic inborn errors of human immunity disease panel</b> that includes <i>LPIN2</i> and other genes of interest (see <a href="#lpin2-majeed.Differential_Diagnosis">Differential Diagnosis</a>) is most likely to identify the genetic cause of the condition while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The list of genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and is likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this <i>GeneReview</i>. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.</div><div class="half_rhythm">For an introduction to multigene panels click <a href="/books/n/gene/app5/?report=reader#app5.Multigene_Panels">here</a>. More detailed information for clinicians ordering genetic tests can be found <a href="/books/n/gene/app5/?report=reader#app5.Multigene_Panels_FAQs">here</a>.</div></li></ul></div><div id="lpin2-majeed.Option_2"><h4>Option 2</h4><p>When the phenotype is indistinguishable from many other inherited disorders characterized by periodic fevers and/or autoinflammatory findings, comprehensive genomic testing may be considered.</p><p><b>Comprehensive genomic testing</b> does not require the clinician to determine which gene is likely involved. <b>Exome sequencing</b> is most commonly used; <b>genome sequencing</b> is also possible.</p><p>For an introduction to comprehensive genomic testing click <a href="/books/n/gene/app5/?report=reader#app5.Comprehensive_Genomic_Testing">here</a>. More detailed information for clinicians ordering genomic testing can be found <a href="/books/n/gene/app5/?report=reader#app5.Comprehensive_Genomic_Testing_1">here</a>.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figlpin2majeedTmoleculargenetictesting"><a href="/books/NBK589480/table/lpin2-majeed.T.molecular_genetic_testing/?report=objectonly" target="object" title="Table 1. " class="img_link icnblk_img" rid-ob="figoblpin2majeedTmoleculargenetictesting"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="lpin2-majeed.T.molecular_genetic_testing"><a href="/books/NBK589480/table/lpin2-majeed.T.molecular_genetic_testing/?report=objectonly" target="object" rid-ob="figoblpin2majeedTmoleculargenetictesting">Table 1. </a></h4><p class="float-caption no_bottom_margin">Molecular Genetic Testing Used in <i>LPIN2</i>-Related Majeed Syndrome </p></div></div></div></div></div><div id="lpin2-majeed.Clinical_Characteristics"><h2 id="_lpin2-majeed_Clinical_Characteristics_">Clinical Characteristics</h2><div id="lpin2-majeed.Clinical_Description"><h3>Clinical Description</h3><p>Individuals with <i>LPIN2-</i>related Majeed syndrome typically experience multisystem inflammatory symptoms, including chronic multifocal osteomyelitis, recurrent bone pain, recurrent fever, failure to thrive, dyserythropoietic anemia, and neutrophilic dermatosis. Because more than half of affected individuals have recurrent fever as one of the first manifestations, <i>LPIN2-</i>related Majeed syndrome should be considered in the spectrum of periodic fever syndromes in children (see <a href="#lpin2-majeed.Differential_Diagnosis">Differential Diagnosis</a>). As more families are being described, individuals with milder features are now being recognized.</p><p>To date, 32 individuals from 19 families have been identified with a pathogenic variant in <i>LPIN2</i> [<a class="bibr" href="#lpin2-majeed.REF.chavan.2021.1850" rid="lpin2-majeed.REF.chavan.2021.1850">Chavan et al 2021</a>; <a class="bibr" href="#lpin2-majeed.REF.ferguson.2021.367" rid="lpin2-majeed.REF.ferguson.2021.367">Ferguson & El-Shanti 2021</a>; Authors, personal observation]. The following description of the phenotypic features associated with this condition is based on these reports.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figlpin2majeedTlpin2relatedmajeedsyndr"><a href="/books/NBK589480/table/lpin2-majeed.T.lpin2related_majeed_syndr/?report=objectonly" target="object" title="Table 2. " class="img_link icnblk_img" rid-ob="figoblpin2majeedTlpin2relatedmajeedsyndr"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="lpin2-majeed.T.lpin2related_majeed_syndr"><a href="/books/NBK589480/table/lpin2-majeed.T.lpin2related_majeed_syndr/?report=objectonly" target="object" rid-ob="figoblpin2majeedTlpin2relatedmajeedsyndr">Table 2. </a></h4><p class="float-caption no_bottom_margin"><i>LPIN2</i>-Related Majeed Syndrome: Frequency of Select Features </p></div></div><p><b>Chronic recurrent multifocal osteomyelitis (CRMO).</b> Almost all affected individuals present with recurrent bone pain or clinical or radiologic evidence of CRMO. The symptoms usually start in the first two years of life. The bone pain is usually localized in and around major joints in the long bones, especially in the lower limbs. Clinical examination may reveal local swelling, redness, or warmth of the affected bone or joint. Biopsy performed in some affected individuals reveals sterile osteomyelitis [<a class="bibr" href="#lpin2-majeed.REF.ferguson.2021.367" rid="lpin2-majeed.REF.ferguson.2021.367">Ferguson & El-Shanti 2021</a>]. Due to recurrent osteomyelitis, some individuals may develop joint contractures, which may be severe enough to affect their daily living activities [<a class="bibr" href="#lpin2-majeed.REF.chavan.2021.1850" rid="lpin2-majeed.REF.chavan.2021.1850">Chavan et al 2021</a>].</p><p><b>Hematologic findings.</b> Affected individuals can have microcytic hypochromic anemia and sometimes may require blood transfusion. Bone marrow cytology may show abnormalities like erythroid hyperplasia and multinuclear cells suggestive of congenital dyserythropoietic anemia. C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) are elevated in all affected individuals (see <a href="#lpin2-majeed.Suggestive_Findings">Suggestive Findings</a>). Neutropenia has been reported in three individuals [<a class="bibr" href="#lpin2-majeed.REF.ferguson.2021.367" rid="lpin2-majeed.REF.ferguson.2021.367">Ferguson & El-Shanti 2021</a>].</p><p><b>Growth issues.</b> Affected individuals experience failure to thrive or growth delay. This could be attributed to the elevated inflammatory markers, chronic osteomyelitis, and/or chronic anemia. Therefore, growth may not be affected in early infancy but may become apparent over time. It is unclear if anti-inflammatory treatment ameliorates the growth issues, although one affected individual did show improvement in weight and height after anti-inflammatory treatment was initiated [<a class="bibr" href="#lpin2-majeed.REF.rao.2016.1258" rid="lpin2-majeed.REF.rao.2016.1258">Rao et al 2016</a>].</p><p><b>Dermatosis.</b> Even though Sweet syndrome (neutrophilic dermatosis) was described in the initial family reported with <i>LPIN2-</i>related Majeed syndrome, skin manifestations are not common in affected individuals and sometimes may be transient. Clinical skin findings can include painful erythematous plaques, pustules, or nodules. The skin findings can occur on any part of the body, are usually patchy, and do not tend to bleed. Some affected individuals may develop erythema nodosum, which is often localized to the shins.</p><p><b>Gastrointestinal issues.</b> Some affected individuals experience recurrent abdominal pain and recurrent diarrhea. However, there is limited information on these symptoms due to the small number of diagnosed individuals.</p><p><b>Neurodevelopment.</b> A few affected individuals have experienced motor delay, but this has been attributed to pain due to recurrent osteomyelitis. While one case report found inflammation affecting the central nervous system [<a class="bibr" href="#lpin2-majeed.REF.sun.2021.775" rid="lpin2-majeed.REF.sun.2021.775">Sun et al 2021</a>], this has not been found in other known affected individuals. There are currently no known neurologic sequelae of this condition.</p></div><div id="lpin2-majeed.GenotypePhenotype_Correlati"><h3>Genotype-Phenotype Correlations</h3><p>No genotype-phenotype correlations have been identified.</p></div><div id="lpin2-majeed.Prevalence"><h3>Prevalence</h3><p>The prevalence of <i>LPIN2</i>-related Majeed syndrome is unknown. To date, 32 individuals from 19 families have been reported to have molecularly proven Majeed syndrome.</p></div></div><div id="lpin2-majeed.Genetically_Related_Allelic"><h2 id="_lpin2-majeed_Genetically_Related_Allelic_">Genetically Related (Allelic) Disorders</h2><p>No phenotypes other than those discussed in this <i>GeneReview</i> are known to be associated with germline pathogenic variants in <i>LPIN2</i>.</p></div><div id="lpin2-majeed.Differential_Diagnosis"><h2 id="_lpin2-majeed_Differential_Diagnosis_">Differential Diagnosis</h2><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figlpin2majeedTgenesofinterestinthe"><a href="/books/NBK589480/table/lpin2-majeed.T.genes_of_interest_in_the/?report=objectonly" target="object" title="Table 3. " class="img_link icnblk_img" rid-ob="figoblpin2majeedTgenesofinterestinthe"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="lpin2-majeed.T.genes_of_interest_in_the"><a href="/books/NBK589480/table/lpin2-majeed.T.genes_of_interest_in_the/?report=objectonly" target="object" rid-ob="figoblpin2majeedTgenesofinterestinthe">Table 3. </a></h4><p class="float-caption no_bottom_margin">Genes of Interest in the Differential Diagnosis of <i>LPIN2</i>-Related Majeed Syndrome </p></div></div><p>
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<b>Acquired disorders of interest in the differential diagnosis of <i>LPIN2</i>-related Majeed syndrome</b>
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</p><ul><li class="half_rhythm"><div>SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome</div></li><li class="half_rhythm"><div>Chronic nonbacterial osteomyelitis</div></li></ul></div><div id="lpin2-majeed.Management"><h2 id="_lpin2-majeed_Management_">Management</h2><p>No clinical practice guidelines for <i>LPIN2</i>-related Majeed syndrome have been published.</p><div id="lpin2-majeed.Evaluations_Following_Initi"><h3>Evaluations Following Initial Diagnosis</h3><p>To establish the extent of disease and needs in an individual diagnosed with <i>LPIN2</i>-related Majeed syndrome, the evaluations summarized in <a href="/books/NBK589480/table/lpin2-majeed.T.recommended_evaluations_f/?report=objectonly" target="object" rid-ob="figoblpin2majeedTrecommendedevaluationsf">Table 4</a> (if not performed as part of the evaluation that led to the diagnosis) are recommended.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figlpin2majeedTrecommendedevaluationsf"><a href="/books/NBK589480/table/lpin2-majeed.T.recommended_evaluations_f/?report=objectonly" target="object" title="Table 4. " class="img_link icnblk_img" rid-ob="figoblpin2majeedTrecommendedevaluationsf"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="lpin2-majeed.T.recommended_evaluations_f"><a href="/books/NBK589480/table/lpin2-majeed.T.recommended_evaluations_f/?report=objectonly" target="object" rid-ob="figoblpin2majeedTrecommendedevaluationsf">Table 4. </a></h4><p class="float-caption no_bottom_margin">Recommended Evaluations Following Initial Diagnosis in Individuals with <i>LPIN2</i>-Related Majeed Syndrome </p></div></div></div><div id="lpin2-majeed.Treatment_of_Manifestations"><h3>Treatment of Manifestations</h3><p>There is no cure for <i>LPIN2</i>-related Majeed syndrome.</p><p><b>Supportive care</b> to improve quality of life, maximize function, and reduce complications is recommended (see <a href="/books/NBK589480/table/lpin2-majeed.T.treatment_of_manifestatio/?report=objectonly" target="object" rid-ob="figoblpin2majeedTtreatmentofmanifestatio">Table 5</a>). With anti-inflammatory treatment, many individuals experience resolution of elevated inflammatory markers and decreased bone pain. However, there is not enough data to determine if anti-inflammatory treatment will lead to resolution of all of the features of <i>LPIN2</i>-related Majeed syndrome.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figlpin2majeedTtreatmentofmanifestatio"><a href="/books/NBK589480/table/lpin2-majeed.T.treatment_of_manifestatio/?report=objectonly" target="object" title="Table 5. " class="img_link icnblk_img" rid-ob="figoblpin2majeedTtreatmentofmanifestatio"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="lpin2-majeed.T.treatment_of_manifestatio"><a href="/books/NBK589480/table/lpin2-majeed.T.treatment_of_manifestatio/?report=objectonly" target="object" rid-ob="figoblpin2majeedTtreatmentofmanifestatio">Table 5. </a></h4><p class="float-caption no_bottom_margin">Treatment of Manifestations in Individuals with <i>LPIN2</i>-Related Majeed Syndrome </p></div></div></div><div id="lpin2-majeed.Surveillance"><h3>Surveillance</h3><p>To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations in <a href="/books/NBK589480/table/lpin2-majeed.T.recommended_surveillance/?report=objectonly" target="object" rid-ob="figoblpin2majeedTrecommendedsurveillance">Table 6</a> are recommended.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figlpin2majeedTrecommendedsurveillance"><a href="/books/NBK589480/table/lpin2-majeed.T.recommended_surveillance/?report=objectonly" target="object" title="Table 6. " class="img_link icnblk_img" rid-ob="figoblpin2majeedTrecommendedsurveillance"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="lpin2-majeed.T.recommended_surveillance"><a href="/books/NBK589480/table/lpin2-majeed.T.recommended_surveillance/?report=objectonly" target="object" rid-ob="figoblpin2majeedTrecommendedsurveillance">Table 6. </a></h4><p class="float-caption no_bottom_margin">Recommended Surveillance for Individuals with <i>LPIN2</i>-Related Majeed Syndrome </p></div></div></div><div id="lpin2-majeed.AgentsCircumstances_to_Avoi"><h3>Agents/Circumstances to Avoid</h3><p>For affected individuals managed with biologic or immunosuppressive medications, live-attenuated vaccines should be avoided, when possible.</p></div><div id="lpin2-majeed.Evaluation_of_Relatives_at"><h3>Evaluation of Relatives at Risk</h3><p>It is appropriate to clarify the genetic status of apparently asymptomatic older and younger at-risk relatives of an affected individual to identify as early as possible those who would benefit from prompt initiation of anti-inflammatory treatment. Evaluations can include:</p><ul><li class="half_rhythm"><div>Targeted molecular genetic testing if the pathogenic variants in the family are known;</div></li><li class="half_rhythm"><div>If the pathogenic variants in the family are unknown, clinical assessment (history and physical exam for signs/symptoms of systemic inflammation, full skin examination for rashes, assessment of inflammatory markers [serum C-reactive protein & erythrocyte sedimentation rate], and complete blood count with differential) can be considered.</div></li></ul><p>See <a href="#lpin2-majeed.Related_Genetic_Counseling">Genetic Counseling</a> for issues related to testing of at-risk relatives for genetic counseling purposes.</p></div><div id="lpin2-majeed.Pregnancy_Management"><h3>Pregnancy Management</h3><p>Information regarding the safety of the use of anakinra in human pregnancy is limited; however, based on animal models, the use of such therapy during human pregnancy is not anticipated to lead to an increased risk of congenital anomalies in the fetus. There is no available data on the use of canakinumab during human pregnancy. However, to date there has not been a pattern of birth anomalies reported with anti-interleukin-1 medication classes.</p><p>The use of corticosteroids during human pregnancy has been associated with an increased risk of cleft lip with or without cleft palate in exposed fetuses. Medications should be discussed with a health care provider during pregnancy or when planning to conceive [<a class="bibr" href="#lpin2-majeed.REF.youngstein.2017.2102" rid="lpin2-majeed.REF.youngstein.2017.2102">Youngstein et al 2017</a>].</p><p>Methotrexate is known to be harmful to the developing fetus and can lead to pregnancy loss and/or birth defects. Fetal outcome depends on the dose of methotrexate used, the duration of exposure, and the gestational age of the fetus during the exposure period. Methotrexate ideally should be discontinued prior to attempting to conceive.</p><p>See <a href="https://www.mothertobaby.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">MotherToBaby</a> for further information on medication use during pregnancy.</p></div><div id="lpin2-majeed.Therapies_Under_Investigati"><h3>Therapies Under Investigation</h3><p>The clinical trial <a href="https://www.clinicaltrials.gov/ct2/show/NCT02974595?term=NCT02974595&draw=2&rank=1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NCT02974595</a> is a natural history study of autoinflammatory diseases.</p><p>Search <a href="https://clinicaltrials.gov/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ClinicalTrials.gov</a> in the US and <a href="https://www.clinicaltrialsregister.eu/ctr-search/search" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">EU Clinical Trials Register</a> in Europe for access to information on clinical studies for a wide range of diseases and conditions.</p></div></div><div id="lpin2-majeed.Genetic_Counseling"><h2 id="_lpin2-majeed_Genetic_Counseling_">Genetic Counseling</h2><p>
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<i>Genetic counseling is the process of providing individuals and families with
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information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them
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make informed medical and personal decisions. The following section deals with genetic
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risk assessment and the use of family history and genetic testing to clarify genetic
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status for family members; it is not meant to address all personal, cultural, or
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ethical issues that may arise or to substitute for consultation with a genetics
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professional</i>. —ED.</p><div id="lpin2-majeed.Mode_of_Inheritance"><h3>Mode of Inheritance</h3><p><i>LPIN2</i>-related Majeed syndrome is inherited in an autosomal recessive manner.</p></div><div id="lpin2-majeed.Risk_to_Family_Members"><h3>Risk to Family Members</h3><p>
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<b>Parents of a proband</b>
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</p><ul><li class="half_rhythm"><div>The parents of an affected child are presumed to be heterozygous for an <i>LPIN2</i> pathogenic variant.</div></li><li class="half_rhythm"><div>Molecular genetic testing is recommended for the parents of a proband to confirm that both parents are heterozygous for an <i>LPIN2</i> pathogenic variant and to allow reliable recurrence risk assessment.</div></li><li class="half_rhythm"><div>If a pathogenic variant is detected in only one parent and parental identity testing has confirmed biological maternity and paternity, it is possible that one of the pathogenic variants identified in the proband occurred as a <i>de novo</i> event in the proband or as a postzygotic <i>de novo</i> event in a mosaic parent [<a class="bibr" href="#lpin2-majeed.REF.j_nsson.2017.519" rid="lpin2-majeed.REF.j_nsson.2017.519">Jónsson et al 2017</a>]. If the proband appears to have homozygous pathogenic variants (i.e., the same two pathogenic variants), additional possibilities to consider include:</div><ul><li class="half_rhythm"><div>A single- or multiexon deletion in the proband that was not detected by sequence analysis and that resulted in the artifactual appearance of homozygosity;</div></li><li class="half_rhythm"><div>Uniparental isodisomy for the parental chromosome with the pathogenic variant that resulted in homozygosity for the pathogenic variant in the proband.</div></li></ul></li><li class="half_rhythm"><div>Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.</div></li></ul><p>
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<b>Sibs of a proband</b>
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</p><ul><li class="half_rhythm"><div>If both parents are known to be heterozygous for an <i>LPIN2</i> pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of inheriting neither of the familial pathogenic variants.</div></li><li class="half_rhythm"><div>Phenotypic variability was described in a family with two affected individuals. One of the affected boys had onset of symptoms at age two years and had a severe course of illness compared to his affected first cousin, who had later onset of symptoms and a milder presentation [<a class="bibr" href="#lpin2-majeed.REF.rao.2016.1258" rid="lpin2-majeed.REF.rao.2016.1258">Rao et al 2016</a>].</div></li><li class="half_rhythm"><div>Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.</div></li></ul><p><b>Offspring of a proband.</b> Unless an affected individual's reproductive partner also has <i>LPIN2</i>-related Majeed syndrome or is a carrier, offspring will be obligate heterozygotes (carriers) for a pathogenic variant in <i>LPIN2.</i></p><p><b>Other family members.</b> Each sib of the proband's parents is at a 50% risk of being a carrier of an <i>LPIN2</i> pathogenic variant.</p></div><div id="lpin2-majeed.Carrier_Detection"><h3>Carrier Detection</h3><p>Carrier testing for at-risk relatives requires prior identification of the <i>LPIN2</i> pathogenic variants in the family.</p></div><div id="lpin2-majeed.Related_Genetic_Counseling"><h3>Related Genetic Counseling Issues</h3><p>See Management, <a href="#lpin2-majeed.Evaluation_of_Relatives_at">Evaluation of Relatives at Risk</a> for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.</p><p>
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<b>Family planning</b>
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</p><ul><li class="half_rhythm"><div>The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.</div></li><li class="half_rhythm"><div>It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected, are carriers, or are at risk of being carriers.</div></li></ul></div><div id="lpin2-majeed.Prenatal_Testing_and_Preimp"><h3>Prenatal Testing and Preimplantation Genetic Testing</h3><p>Once the <i>LPIN2</i> pathogenic variants have been identified in an affected family member, prenatal and preimplantation genetic testing are possible.</p><p>Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing. While most centers would consider use of prenatal testing to be a personal decision, discussion of these issues may be helpful.</p></div></div><div id="lpin2-majeed.Resources"><h2 id="_lpin2-majeed_Resources_">Resources</h2><p>
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<i>GeneReviews staff has selected the following disease-specific and/or umbrella
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support organizations and/or registries for the benefit of individuals with this disorder
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and their families. GeneReviews is not responsible for the information provided by other
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organizations. For information on selection criteria, click <a href="/books/n/gene/app4/?report=reader">here</a>.</i></p>
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<ul><li class="half_rhythm"><div>
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<b>Autoinflammatory Alliance </b>
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</div><div><b>Email:</b> karen@autoinflammatory.org</div><div>
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<a href="https://autoinflammatory.org/index.php" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">autoinflammatory.org</a>
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</div></li><li class="half_rhythm"><div>
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<b>FMF & AID Global Association</b>
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</div><div>Familial Mediterranean Fever & Autoinflammatory Diseases</div><div>
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<a href="https://www.fmfandaid.org/majeed-syndrome" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Majeed Syndrome</a>
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</div></li><li class="half_rhythm"><div>
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<b>MedLine Plus</b>
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</div><div>
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<a href="https://medlineplus.gov/genetics/condition/majeed-syndrome/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Majeed syndrome</a>
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</div></li><li class="half_rhythm"><div>
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<b>CRMO Foundation</b>
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</div><div>
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<a href="https://crmofoundation.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">www.crmofoundation.org</a>
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</div></li><li class="half_rhythm"><div>
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<b>Systemic Autoinflammatory Diseases in India </b>
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</div><div>India</div><div>
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<a href="https://www.saidindia.com/patient-support/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Information for Patients</a>
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</div></li></ul>
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</div><div id="lpin2-majeed.Molecular_Genetics"><h2 id="_lpin2-majeed_Molecular_Genetics_">Molecular Genetics</h2><p><i>Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —</i>ED.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figlpin2majeedmolgenTA"><a href="/books/NBK589480/table/lpin2-majeed.molgen.TA/?report=objectonly" target="object" title="Table A." class="img_link icnblk_img" rid-ob="figoblpin2majeedmolgenTA"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="lpin2-majeed.molgen.TA"><a href="/books/NBK589480/table/lpin2-majeed.molgen.TA/?report=objectonly" target="object" rid-ob="figoblpin2majeedmolgenTA">Table A.</a></h4><p class="float-caption no_bottom_margin">LPIN2-Related Majeed Syndrome: Genes and Databases </p></div></div><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figlpin2majeedmolgenTB"><a href="/books/NBK589480/table/lpin2-majeed.molgen.TB/?report=objectonly" target="object" title="Table B." class="img_link icnblk_img" rid-ob="figoblpin2majeedmolgenTB"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="lpin2-majeed.molgen.TB"><a href="/books/NBK589480/table/lpin2-majeed.molgen.TB/?report=objectonly" target="object" rid-ob="figoblpin2majeedmolgenTB">Table B.</a></h4><p class="float-caption no_bottom_margin">OMIM Entries for LPIN2-Related Majeed Syndrome (View All in OMIM) </p></div></div><div id="lpin2-majeed.Molecular_Pathogenesis"><h3>Molecular Pathogenesis</h3><p><i>LPIN2</i> encodes phosphatidate phosphatase LPIN2, or lipin-2, which belongs to the lipin family of proteins and plays a key role in lipid metabolism. Lipin-2 is most abundantly expressed in the liver, small intestine, macrophages, and the central nervous system. Lipin-2 has phosphatidic acid phosphohydrolase (PAP) activity, which catalyzes the conversion of phosphatidic acid to diacylglycerol during the synthesis of triglyceride, phosphatidylcholine, and phosphatidylethanolamine. It is also involved in fatty acid metabolism and regulation of different cellular processes, including autophagy and inflammation. Lipin-2 has been shown to regulate the activity of the large multiprotein complexes known as inflammasomes, specifically NRLP3, a key component of the innate immune system that mediates caspase-1 activation and the secretion of proinflammatory cytokines [<a class="bibr" href="#lpin2-majeed.REF.lord_n.2017.511" rid="lpin2-majeed.REF.lord_n.2017.511">Lordén et al 2017</a>]. Lipin-2 negatively regulates the mitogen-activated protein kinases (MAPKs) and decreases the levels of pro-interleukin-1 beta. Lipin-2 also provides a lipid environment for regulating the activity of the purigenic receptor P2X7 and prevents its overactivation, thus preventing inflammation. Lipin-2 has been shown to modulate bone homeostasis independent of the inflammasome pathway by accelerating osteoclastogenesis [<a class="bibr" href="#lpin2-majeed.REF.bhuyan.2021.1021" rid="lpin2-majeed.REF.bhuyan.2021.1021">Bhuyan et al 2021</a>]. Pathogenic variants in <i>LPIN2</i> cause a reduction of PAP activity, which leads to decreased lipid levels and activation of the P2X7 receptor, which in turn stimulates the NLRP3 inflammasome by potassium efflux [<a class="bibr" href="#lpin2-majeed.REF.lord_n.2017.511" rid="lpin2-majeed.REF.lord_n.2017.511">Lordén et al 2017</a>].</p><p><b>Mechanism of disease causation.</b> Loss of function</p></div></div><div id="lpin2-majeed.Chapter_Notes"><h2 id="_lpin2-majeed_Chapter_Notes_">Chapter Notes</h2><div id="lpin2-majeed.Author_Notes"><h3>Author Notes</h3><p>Dr Dhanya Narayanan is a DBT Wellcome Trust India Alliance Early Career clinical and Public Health research fellow. For more information on the project, visit <a href="https://www.saidindia.com/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">www.saidindia.com</a>.</p></div><div id="lpin2-majeed.Acknowledgments"><h3>Acknowledgments</h3><p>We thank the DBT Wellcome Trust India Alliance for funding the study "Understanding Autoinflammatory Diseases through Clinical, Genomic and Functional Approaches" [IA/CPHE/20/1/505226].</p></div><div id="lpin2-majeed.Revision_History"><h3>Revision History</h3><ul><li class="half_rhythm"><div>2 March 2023 (ma) Review posted live</div></li><li class="half_rhythm"><div>6 September 2022 (dln) Original submission</div></li></ul></div></div><div id="lpin2-majeed.References"><h2 id="_lpin2-majeed_References_">References</h2><div id="lpin2-majeed.Literature_Cited"><h3>Literature Cited</h3><ul class="simple-list"><li class="half_rhythm"><p><div class="bk_ref" id="lpin2-majeed.REF.bhuyan.2021.1021">Bhuyan F, de Jesus AA, Mitchell J, Leikina E, VanTries R, Herzog R, Onel KB, Oler A, Montealegre Sanchez GA, Johnson KA, Bichell L, Marrero B, De Castro LF, Huang Y, Calvo KR, Collins MT, Ganesan S, Chernomordik LV, Ferguson PJ, Goldbach-Mansky R. Novel Majeed syndrome-causing LPIN2 mutations link bone inflammation to inflammatory M2 macrophages and accelerated osteoclastogenesis. <span><span class="ref-journal">Arthritis Rheumatol. </span>2021;<span class="ref-vol">73</span>:1021–32.</span> [<a href="/pmc/articles/PMC8252456/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8252456</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/33314777" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33314777</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="lpin2-majeed.REF.chavan.2021.1850">Chavan PP, Aksentijevich I, Daftary A, Panwala H, Khemani C, Khan A, Khubchandani R. Majeed syndrome: five cases with novel mutations from unrelated families in India with a review of literature. <span><span class="ref-journal">J Rheumatol. </span>2021;<span class="ref-vol">48</span>:1850–55.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/33993107" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33993107</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="lpin2-majeed.REF.ferguson.2021.367">Ferguson PJ, El-Shanti H. Majeed syndrome: a review of the clinical, genetic, and immunologic features. <span><span class="ref-journal">Biomolecules. </span>2021;<span class="ref-vol">11</span>:367.</span> [<a href="/pmc/articles/PMC7997317/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7997317</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/33670882" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33670882</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="lpin2-majeed.REF.j_nsson.2017.519">Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Parental influence on human germline de novo mutations in 1,548 trios from Iceland. <span><span class="ref-journal">Nature. </span>2017;<span class="ref-vol">549</span>:519–22.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/28959963" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28959963</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="lpin2-majeed.REF.lord_n.2017.511">Lordén G, Sanjuán-García I, de Pablo N, Meana C, Alvarez-Miguel I, Pérez-García MT, Pelegrín P, Balsinde J, Balboa MA. Lipin-2 regulates NLRP3 inflammasome by affecting P2X7 receptor activation. <span><span class="ref-journal">J Exp Med. </span>2017;<span class="ref-vol">214</span>:511–28.</span> [<a href="/pmc/articles/PMC5294860/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5294860</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/28031477" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28031477</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="lpin2-majeed.REF.rao.2016.1258">Rao AP, Gopalakrishna DB, Bing X, Ferguson PJ. Phenotypic variability in Majeed syndrome. <span><span class="ref-journal">J Rheumatol. </span>2016;<span class="ref-vol">43</span>:1258–9.</span> [<a href="/pmc/articles/PMC4898189/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4898189</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/27252506" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27252506</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="lpin2-majeed.REF.richards.2015.405">Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. <span><span class="ref-journal">Genet Med. </span>2015;<span class="ref-vol">17</span>:405–24.</span> [<a href="/pmc/articles/PMC4544753/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4544753</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25741868" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25741868</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="lpin2-majeed.REF.stenson.2020.1197">Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. <span><span class="ref-journal">Hum Genet. </span>2020;<span class="ref-vol">139</span>:1197–207.</span> [<a href="/pmc/articles/PMC7497289/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7497289</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32596782" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32596782</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="lpin2-majeed.REF.sun.2021.775">Sun L, Zhang P, Song Y, Liu F, Huang Q. <span><span class="ref-journal">Zhonghua Yi Xue Yi Chuan Xue Za Zhi. </span>2021;<span class="ref-vol">38</span>:775–78.</span> [Clinical and genetic analysis of a child with Majeed syndrome.] [<a href="https://pubmed.ncbi.nlm.nih.gov/34365623" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34365623</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="lpin2-majeed.REF.youngstein.2017.2102">Youngstein T, Hoffmann P, Gül A, Lane T, Williams R, Rowczenio DM, Ozdogan H, Ugurlu S, Ryan J, Harty L, Riminton S, Headley AP, Roesler J, Blank N, Kuemmerle-Deschner JB, Simon A, Woolf AS, Hawkins PN, Lachmann HJ. International multi-centre study of pregnancy outcomes with interleukin-1 inhibitors. <span><span class="ref-journal">Rheumatology (Oxford). </span>2017;<span class="ref-vol">56</span>:2102–8.</span> [<a href="/pmc/articles/PMC6251516/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6251516</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/28968868" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28968868</span></a>]</div></p></li></ul></div></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK589480_pubdet_">Publication Details</h2><h3>Author Information and Affiliations</h3><div class="contrib half_rhythm"><span itemprop="author">Dhanya Lakshmi Narayanan</span>, MD, DM<div class="affiliation small">Department of Medical Genetics<br />Kasturba Medical College, Manipal<br />Manipal Academy of Higher Education (MAHE)<br />Manipal, India</div><div class="affiliation small">DBT/Wellcome Trust India Alliance<br />Early Career Clinical and Public Health Fellow<br />Hyderabad, India<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ude.lapinam@imhskal.aynahd" class="oemail">ude.lapinam@imhskal.aynahd</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Kishore Sai Gogineni</span>, MSc<div class="affiliation small">Department of Medical Genetics<br />Kasturba Medical College, Manipal<br />Manipal Academy of Higher Education (MAHE)<br />Manipal, India<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="moc.liamg@88iaserohsik" class="oemail">moc.liamg@88iaserohsik</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Vaishnavi Ashok Badiger</span>, MSc<div class="affiliation small">Department of Medical Genetics<br />Kasturba Medical College, Manipal<br />Manipal Academy of Higher Education (MAHE)<br />Manipal, India<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="moc.liamg@2ivanhsiavregidab" class="oemail">moc.liamg@2ivanhsiavregidab</a></div></div></div><h3>Publication History</h3><p class="small">Initial Posting: <span itemprop="datePublished">March 2, 2023</span>.</p><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright</a> © 1993-2025, University of Washington, Seattle. GeneReviews is
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contact: <a href="mailto:dev@null" data-email="ude.wu@tssamda" class="oemail">ude.wu@tssamda</a>.</p></div></div><h3>Publisher</h3><p><a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>, Seattle (WA)</p><h3>NLM Citation</h3><p>Narayanan DL, Gogineni KS, Badiger VA. LPIN2-Related Majeed Syndrome. 2023 Mar 2. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. <span class="bk_cite_avail"></span></p></div><div class="small-screen-prev"><a href="/books/n/gene/lad-ad/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="small-screen-next"><a href="/books/n/gene/lrrk2/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></article><article data-type="table-wrap" id="figoblpin2majeedTmoleculargenetictesting"><div id="lpin2-majeed.T.molecular_genetic_testing" class="table"><h3><span class="label">Table 1. </span></h3><div class="caption"><p>Molecular Genetic Testing Used in <i>LPIN2</i>-Related Majeed Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK589480/table/lpin2-majeed.T.molecular_genetic_testing/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__lpin2-majeed.T.molecular_genetic_testing_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_lpin2-majeed.T.molecular_genetic_testing_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_lpin2-majeed.T.molecular_genetic_testing_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Method</th><th id="hd_h_lpin2-majeed.T.molecular_genetic_testing_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Proportion of Pathogenic Variants <sup>2</sup> Detectable by Method</th></tr></thead><tbody><tr><td headers="hd_h_lpin2-majeed.T.molecular_genetic_testing_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>LPIN2</i>
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</td><td headers="hd_h_lpin2-majeed.T.molecular_genetic_testing_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sequence analysis <sup>3</sup></td><td headers="hd_h_lpin2-majeed.T.molecular_genetic_testing_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">18/19 families (94.7%) <sup>4</sup></td></tr><tr><td headers="hd_h_lpin2-majeed.T.molecular_genetic_testing_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Gene-targeted deletion/duplication analysis <sup>5</sup></td><td headers="hd_h_lpin2-majeed.T.molecular_genetic_testing_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1/19 (5.2%) <sup>4</sup></td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="lpin2-majeed.TF.1.1"><p class="no_margin">See <a href="/books/NBK589480/?report=reader#lpin2-majeed.molgen.TA">Table A. Genes and Databases</a> for chromosome locus and protein.</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="lpin2-majeed.TF.1.2"><p class="no_margin">See <a href="#lpin2-majeed.Molecular_Genetics">Molecular Genetics</a> for information on variants detected in this gene.</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="lpin2-majeed.TF.1.3"><p class="no_margin">Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click <a href="/books/n/gene/app2/?report=reader">here</a>.</p></div></dd></dl><dl class="bkr_refwrap"><dt>4. </dt><dd><div id="lpin2-majeed.TF.1.4"><p class="no_margin">Data derived from the authors' observations and the subscription-based professional view of Human Gene Mutation Database [<a class="bibr" href="#lpin2-majeed.REF.stenson.2020.1197" rid="lpin2-majeed.REF.stenson.2020.1197">Stenson et al 2020</a>]</p></div></dd></dl><dl class="bkr_refwrap"><dt>5. </dt><dd><div id="lpin2-majeed.TF.1.5"><p class="no_margin">Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figoblpin2majeedTlpin2relatedmajeedsyndr"><div id="lpin2-majeed.T.lpin2related_majeed_syndr" class="table"><h3><span class="label">Table 2. </span></h3><div class="caption"><p><i>LPIN2</i>-Related Majeed Syndrome: Frequency of Select Features</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK589480/table/lpin2-majeed.T.lpin2related_majeed_syndr/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__lpin2-majeed.T.lpin2related_majeed_syndr_lrgtbl__"><table><thead><tr><th id="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Feature</th><th id="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"># of Persons w/Feature</th><th id="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment</th></tr></thead><tbody><tr><td headers="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Chronic multifocal osteomyelitis</td><td headers="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">32/32 (100%)</td><td headers="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Recurrent episodes</td></tr><tr><td headers="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Recurrent bone pain</td><td headers="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">32/32 (100%)</td><td headers="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Microcytic anemia</td><td headers="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">29/30 (97%)</td><td headers="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Recurrent fever</td><td headers="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">17/32 (53%)</td><td headers="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Growth restriction / failure to thrive</td><td headers="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">12/25 (48%)</td><td headers="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hepatosplenomegaly</td><td headers="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">10/22 (45%)</td><td headers="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Dermatosis</td><td headers="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">4/28 (14%)</td><td headers="hd_h_lpin2-majeed.T.lpin2related_majeed_syndr_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr></tbody></table></div></div></article><article data-type="table-wrap" id="figoblpin2majeedTgenesofinterestinthe"><div id="lpin2-majeed.T.genes_of_interest_in_the" class="table"><h3><span class="label">Table 3. </span></h3><div class="caption"><p>Genes of Interest in the Differential Diagnosis of <i>LPIN2</i>-Related Majeed Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK589480/table/lpin2-majeed.T.genes_of_interest_in_the/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__lpin2-majeed.T.genes_of_interest_in_the_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_1" rowspan="2" scope="col" colspan="1" headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_1" style="text-align:left;vertical-align:middle;">Gene</th><th id="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_2" rowspan="2" scope="col" colspan="1" headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_2" style="text-align:left;vertical-align:middle;">Disorder</th><th id="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_3" rowspan="2" scope="col" colspan="1" headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_3" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_4" colspan="2" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Features of This Disorder</th></tr><tr><th headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_4" id="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_2_1" colspan="1" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Overlapping w/<i>LPIN2</i>-related Majeed syndrome</th><th headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_4" id="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_2_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distinguishing from <i>LPIN2</i>-related Majeed syndrome</th></tr></thead><tbody><tr><td headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>IL1RN</i>
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</td><td headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Interleukin-1 receptor antagonist deficiency (OMIM <a href="https://omim.org/entry/612852" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">612852</a>)</td><td headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_4 hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Multifocal sterile osteomyelitis, ↑ ESR, ↑ CRP</td><td headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_4 hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Predominant skin pustulosis from early infancy</td></tr><tr><td headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>NLRP3</i>
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</td><td headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Chronic infantile neurologic cutaneous & articular syndrome (OMIM <a href="https://omim.org/entry/607115" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">607115</a>)</td><td headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_4 hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Recurrent fever, bone pain, skin rash</td><td headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_4 hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CNS involvement, chronic meningitis</td></tr><tr><td headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>PSTPIP1</i>
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</td><td headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Pyogenic sterile arthritis, pyoderma gangrenosum, & acne (OMIM <a href="https://omim.org/entry/604416" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">604416</a>)</td><td headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_4 hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sterile arthritis, ↑ ESR, ↑ CRP</td><td headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_4 hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Acne, pyoderma gangrenosum</td></tr><tr><td headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>TNFRSF1A</i>
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</td><td headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/traps/?report=reader">TNF receptor-associated periodic fever syndrome</a>
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</td><td headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_4 hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Recurrent fever, ↑ ESR, ↑ CRP</td><td headers="hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_1_4 hd_h_lpin2-majeed.T.genes_of_interest_in_the_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Systemic amyloidosis, arthralgia, periorbital edema</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">AD = autosomal dominant; AR = autosomal recessive; CNS = central nervous system; CRP = C-reactive protein; ESR = erythrocyte sedimentation rate; MOI = mode of inheritance</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figoblpin2majeedTrecommendedevaluationsf"><div id="lpin2-majeed.T.recommended_evaluations_f" class="table"><h3><span class="label">Table 4. </span></h3><div class="caption"><p>Recommended Evaluations Following Initial Diagnosis in Individuals with <i>LPIN2</i>-Related Majeed Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK589480/table/lpin2-majeed.T.recommended_evaluations_f/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__lpin2-majeed.T.recommended_evaluations_f_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">System/Concern</th><th id="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Evaluation</th><th id="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment</th></tr></thead><tbody><tr><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Constitutional</b>
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</td><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Measurement of growth parameters</td><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To assess for failure to thrive &/or poor growth</td></tr><tr><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Musculoskeletal</b>
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</td><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Radiographs or MRI of any painful &/or red, swollen limbs or joints</td><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To assess for evidence of osteomyelitis</td></tr><tr><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Assessment for delayed motor milestones</td><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Typically due to pain from recurrent osteomyelitis</td></tr><tr><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Gastrointestinal</b>
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</td><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Physical exam to evaluate for hepatosplenomegaly</td><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">If present, abdominal ultrasound to assess degree of organomegaly</td></tr><tr><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Hematologic</b>
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</td><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Measurement of CBC w/differential</td><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To screen for microcytic anemia & neutropenia</td></tr><tr><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">I<b>ntegument</b></td><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Full skin exam</td><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To assess for signs of dermatosis</td></tr><tr><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Genetic counseling</b>
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</td><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">By genetics professionals <sup>1</sup></td><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To inform affected persons & their families re nature, MOI, & implications of <i>LPIN2</i>-related Majeed syndrome to facilitate medical & personal decision making</td></tr><tr><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Family support</b>
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<br />
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<b>& resources</b>
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</td><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assess need for:
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<ul><li class="half_rhythm"><div>Community or <a href="#lpin2-majeed.Resources">online resources</a> such as <a href="https://www.p2pusa.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Parent to Parent</a>;</div></li><li class="half_rhythm"><div>Social work involvement for parental support;</div></li><li class="half_rhythm"><div>Home nursing referral.</div></li></ul>
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</td><td headers="hd_h_lpin2-majeed.T.recommended_evaluations_f_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">CBC = complete blood count; MOI = mode of inheritance</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="lpin2-majeed.TF.4.1"><p class="no_margin">Medical geneticist, certified genetic counselor, certified advanced genetic nurse</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figoblpin2majeedTtreatmentofmanifestatio"><div id="lpin2-majeed.T.treatment_of_manifestatio" class="table"><h3><span class="label">Table 5. </span></h3><div class="caption"><p>Treatment of Manifestations in Individuals with <i>LPIN2</i>-Related Majeed Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK589480/table/lpin2-majeed.T.treatment_of_manifestatio/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__lpin2-majeed.T.treatment_of_manifestatio_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_lpin2-majeed.T.treatment_of_manifestatio_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Manifestation/Concern</th><th id="hd_h_lpin2-majeed.T.treatment_of_manifestatio_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Treatment <sup>1</sup></th><th id="hd_h_lpin2-majeed.T.treatment_of_manifestatio_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Considerations/Other</th></tr></thead><tbody><tr><td headers="hd_h_lpin2-majeed.T.treatment_of_manifestatio_1_1_1_1" rowspan="4" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Chronic multifocal or single-site sterile osteomyelitis</b>
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</td><td headers="hd_h_lpin2-majeed.T.treatment_of_manifestatio_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Anti-IL-1 therapy:
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<ul><li class="half_rhythm"><div>Anakinra 1.5mg/kg/day w/titration as needed</div></li><li class="half_rhythm"><div>Canakinumab 2mg/kg every 4 or 8 wks</div></li></ul>
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</td><td headers="hd_h_lpin2-majeed.T.treatment_of_manifestatio_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Anti-IL-1 therapy is considered the anti-inflammatory drug of choice but may not be universally available.</td></tr><tr><td headers="hd_h_lpin2-majeed.T.treatment_of_manifestatio_1_1_1_2" colspan="1" scope="col" rowspan="1" style="text-align:left;vertical-align:middle;">Non-steroidal anti-inflammatory drugs</td><td headers="hd_h_lpin2-majeed.T.treatment_of_manifestatio_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_lpin2-majeed.T.treatment_of_manifestatio_1_1_1_2" colspan="1" scope="col" rowspan="1" style="text-align:left;vertical-align:middle;">Corticosteroids<br />(e.g., prednisone 1 mg/kg/day)</td><td headers="hd_h_lpin2-majeed.T.treatment_of_manifestatio_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_lpin2-majeed.T.treatment_of_manifestatio_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Methotrexate</td><td headers="hd_h_lpin2-majeed.T.treatment_of_manifestatio_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standard dosage typically managed by rheumatologist</td></tr><tr><td headers="hd_h_lpin2-majeed.T.treatment_of_manifestatio_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Congenital dyserythropoiesis</b>
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</td><td headers="hd_h_lpin2-majeed.T.treatment_of_manifestatio_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Blood transfusion for severe anemia</td><td headers="hd_h_lpin2-majeed.T.treatment_of_manifestatio_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>This finding may improve w/anti-inflammatory treatment.</div></li><li class="half_rhythm"><div>Splenectomy may be considered.</div></li></ul>
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</td></tr><tr><td headers="hd_h_lpin2-majeed.T.treatment_of_manifestatio_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Dermatosis</b>
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</td><td headers="hd_h_lpin2-majeed.T.treatment_of_manifestatio_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Anti-inflammatory medication (See above.)</td><td headers="hd_h_lpin2-majeed.T.treatment_of_manifestatio_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_lpin2-majeed.T.treatment_of_manifestatio_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Joint contractures /</b>
|
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<br />
|
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<b>Motor delay</b>
|
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</td><td headers="hd_h_lpin2-majeed.T.treatment_of_manifestatio_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Standard supportive therapies, incl PT &/or OT</td><td headers="hd_h_lpin2-majeed.T.treatment_of_manifestatio_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">This finding may improve w/anti-inflammatory treatment.</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">Anti-IL-1 = anti-interleukin-1; PT = physical therapy; OT = occupational therapy</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="lpin2-majeed.TF.5.1"><p class="no_margin">Anti-inflammatory treatment decreases inflammation and reduces flare ups.</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figoblpin2majeedTrecommendedsurveillance"><div id="lpin2-majeed.T.recommended_surveillance" class="table"><h3><span class="label">Table 6. </span></h3><div class="caption"><p>Recommended Surveillance for Individuals with <i>LPIN2</i>-Related Majeed Syndrome</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK589480/table/lpin2-majeed.T.recommended_surveillance/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__lpin2-majeed.T.recommended_surveillance_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_lpin2-majeed.T.recommended_surveillance_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">System/Concern</th><th id="hd_h_lpin2-majeed.T.recommended_surveillance_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Evaluation</th><th id="hd_h_lpin2-majeed.T.recommended_surveillance_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Frequency</th></tr></thead><tbody><tr><td headers="hd_h_lpin2-majeed.T.recommended_surveillance_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Growth</b>
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</td><td headers="hd_h_lpin2-majeed.T.recommended_surveillance_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Measurement of growth parameters</td><td headers="hd_h_lpin2-majeed.T.recommended_surveillance_1_1_1_3" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">At each visit</td></tr><tr><td headers="hd_h_lpin2-majeed.T.recommended_surveillance_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Musculoskeletal</b>
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</td><td headers="hd_h_lpin2-majeed.T.recommended_surveillance_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assessment of joints for range of motion or contractures</td></tr><tr><td headers="hd_h_lpin2-majeed.T.recommended_surveillance_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Hepatosplenomegaly</b>
|
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</td><td headers="hd_h_lpin2-majeed.T.recommended_surveillance_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Physical exam for hepatosplenomegaly</td></tr><tr><td headers="hd_h_lpin2-majeed.T.recommended_surveillance_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Abdominal ultrasound</td><td headers="hd_h_lpin2-majeed.T.recommended_surveillance_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">As clinically indicated, for those who have hepatosplenomegaly</td></tr><tr><td headers="hd_h_lpin2-majeed.T.recommended_surveillance_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Immunologic</b>
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</td><td headers="hd_h_lpin2-majeed.T.recommended_surveillance_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">ESR & CRP levels to monitor level of inflammation</td><td headers="hd_h_lpin2-majeed.T.recommended_surveillance_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">At each visit</td></tr><tr><td headers="hd_h_lpin2-majeed.T.recommended_surveillance_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Hematologic</b>
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</td><td headers="hd_h_lpin2-majeed.T.recommended_surveillance_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CBC w/differential to assess for anemia & neutropenia</td><td headers="hd_h_lpin2-majeed.T.recommended_surveillance_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Every 6 mos</td></tr><tr><td headers="hd_h_lpin2-majeed.T.recommended_surveillance_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">I<b>ntegument</b></td><td headers="hd_h_lpin2-majeed.T.recommended_surveillance_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Full skin exam to assess for signs of dermatosis</td><td headers="hd_h_lpin2-majeed.T.recommended_surveillance_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">At each visit</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">CBC = complete blood count; CRP = C-reactive protein; ESR = erythrocyte sedimentation rate</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figoblpin2majeedmolgenTA"><div id="lpin2-majeed.molgen.TA" class="table"><h3><span class="label">Table A.</span></h3><div class="caption"><p>LPIN2-Related Majeed Syndrome: Genes and Databases</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK589480/table/lpin2-majeed.molgen.TA/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__lpin2-majeed.molgen.TA_lrgtbl__"><table class="no_bottom_margin"><tbody><tr><th id="hd_b_lpin2-majeed.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">Gene</th><th id="hd_b_lpin2-majeed.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">Chromosome Locus</th><th id="hd_b_lpin2-majeed.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">Protein</th><th id="hd_b_lpin2-majeed.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">Locus-Specific Databases</th><th id="hd_b_lpin2-majeed.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">HGMD</th><th id="hd_b_lpin2-majeed.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">ClinVar</th></tr><tr><td headers="hd_b_lpin2-majeed.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="/gene/9663" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
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<i>LPIN2</i>
|
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</a>
|
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</td><td headers="hd_b_lpin2-majeed.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=9663" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">18p11<wbr style="display:inline-block"></wbr>​.31</a>
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</td><td headers="hd_b_lpin2-majeed.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="http://www.uniprot.org/uniprot/Q92539" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Phosphatidate phosphatase LPIN2</a>
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</td><td headers="hd_b_lpin2-majeed.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="http://databases.lovd.nl/shared/genes/LPIN2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">LPIN2 database</a>
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<br />
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<a href="https://infevers.umai-montpellier.fr/web/search.php?n=7" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">The registry of LPIN2 sequence variants</a>
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</td><td headers="hd_b_lpin2-majeed.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=LPIN2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">LPIN2</a>
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</td><td headers="hd_b_lpin2-majeed.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=LPIN2[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">LPIN2</a>
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</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div id="lpin2-majeed.TFA.1"><p class="no_margin">Data are compiled from the following standard references: gene from
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<a href="http://www.genenames.org/index.html" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">HGNC</a>;
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chromosome locus from
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<a href="http://www.omim.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">OMIM</a>;
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protein from <a href="http://www.uniprot.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">UniProt</a>.
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For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click
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<a href="/books/n/gene/app1/?report=reader">here</a>.</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figoblpin2majeedmolgenTB"><div id="lpin2-majeed.molgen.TB" class="table"><h3><span class="label">Table B.</span></h3><div class="caption"><p>OMIM Entries for LPIN2-Related Majeed Syndrome (<a href="/omim/605519,609628" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">View All in OMIM</a>) </p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK589480/table/lpin2-majeed.molgen.TB/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__lpin2-majeed.molgen.TB_lrgtbl__"><table><tbody><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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<a href="/omim/605519" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">605519</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">LIPIN 2; LPIN2</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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<a href="/omim/609628" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">609628</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">MAJEED SYNDROME; MJDS</td></tr></tbody></table></div></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script><script type="text/javascript">if (typeof (jQuery) != 'undefined') { (function ($) { $(function () { var min = Math.ceil(1); var max = Math.floor(100000); var randomNum = Math.floor(Math.random() * (max - min)) + min; var surveyUrl = "/projects/Gene/portal/surveys/seqdbui-survey.js?rando=" + randomNum.toString(); $.getScript(surveyUrl, function () { try { ncbi.seqDbUISurvey.init(); } catch (err) { console.info(err); } }).fail(function (jqxhr, settings, exception) { console.info('Cannot load survey script', jqxhr); });; }); })(jQuery); };</script></div></div>
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