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<!--
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||
UID=57479
|
||
ConceptID=C0151718
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypocholesterolemia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57479</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0151718</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Decreased circulating cholesterol level; Hypocholesteremia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hypocholesterolemia (61336008); Hypocholesteremia (61336008)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003146">HP:0003146</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">An decreased concentration of cholesterol in the blood. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Hypocholesterolemia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867398" ref="tree=MeSH" title="MedGen record for Abnormality of metabolism/homeostasis">Abnormality of metabolism/homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/1701080" ref="tree=MeSH" title="MedGen record for Abnormal circulating metabolite concentration">Abnormal circulating metabolite concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1864085" ref="tree=MeSH" title="MedGen record for Abnormal circulating organic compound concentration">Abnormal circulating organic compound concentration</a></span><ul><li><span class="TLline"><a href="/medgen/892402" ref="tree=MeSH" title="MedGen record for Abnormal circulating lipid concentration">Abnormal circulating lipid concentration</a></span><ul><li><span class="TLline"><a href="/medgen/871179" ref="tree=MeSH" title="MedGen record for Abnormal circulating cholesterol concentration">Abnormal circulating cholesterol concentration</a></span><ul><li><span class="matched_ds">Hypocholesterolemia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_59797"><div><strong>Dubowitz syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>59797</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0175691</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/59797">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_61231"><div><strong>Smith-Lemli-Opitz syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61231</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0175694</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth restriction, microcephaly, moderate-to-severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide; individuals with normal development and only minor malformations have been described.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61231">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_138111"><div><strong>PMM2-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138111</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0349653</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PMM2-CDG, the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three clinical stages: infantile multisystem, late-infantile and childhood ataxia–intellectual disability, and adult stable disability. The clinical manifestations and course are highly variable, ranging from infants who die in the first year of life to mildly affected adults. Clinical findings tend to be similar in sibs. In the infantile multisystem presentation, infants show axial hypotonia, hyporeflexia, esotropia, and developmental delay. Feeding issues, vomiting, faltering growth, and developmental delay are frequently seen. Subcutaneous fat may be excessive over the buttocks and suprapubic region. Two distinct clinical courses are observed: (1) a nonfatal neurologic course with faltering growth, strabismus, developmental delay, cerebellar hypoplasia, and hepatopathy in infancy followed by neuropathy and retinitis pigmentosa in the first or second decade; and (2) a more severe neurologic-multivisceral course with approximately 20% mortality in the first year of life. The late-infantile and childhood ataxia–intellectual disability stage, which begins between ages three and ten years, is characterized by hypotonia, ataxia, severely delayed language and motor development, inability to walk, and IQ of 40 to 70; other findings include seizures, stroke-like episodes or transient unilateral loss of function, coagulopathy, retinitis pigmentosa, joint contractures, and skeletal deformities. In the adult stable disability stage, intellectual ability is stable; peripheral neuropathy is variable, progressive retinitis pigmentosa and myopia are seen, thoracic and spinal deformities with osteoporosis worsen, and premature aging is observed; females may lack secondary sexual development and males may exhibit decreased testicular volume. Hypogonadotropic hypogonadism and coagulopathy may occur. The risk for deep venous thrombosis is increased.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138111">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_208651"><div><strong>Chylomicron retention disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208651</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0795956</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chylomicron retention disease (CMRD), characterized by the inability to secrete chylomicrons from the enterocytes following the ingestion of fat, typically presents in infancy with failure to thrive, diarrhea, vomiting, abdominal distention, and malabsorption of fat. This leads to steatorrhea – the severity of which relates to the fat content of the diet – and in some cases, hepatomegaly. Organ systems outside of the gastrointestinal tract may also be affected (often due to malnutrition and deficiencies of fat-soluble vitamins), including neuromuscular abnormalities (typically in the first or second decade of life) secondary to vitamin E deficiency, poor bone mineralization and delayed bone maturation due to vitamin D deficiency, prolonged international normalized ratio (INR) due to vitamin K deficiency, mild ophthalmologic issues (e.g., micronystagmus, delayed dark adaptation, abnormal visual evoked potentials, and abnormal scotopic electroretinograms), and (in a small proportion of adults) cardiomyopathy with decreased ejection fraction. Affected individuals typically have marked hypocholesterolemia, low plasma apolipoprotein B levels, normal-to-low plasma triglyceride levels, and low serum concentrations of fat-soluble vitamins (A, D, E, and K). Endoscopy typically demonstrates a gelée blanche ("white hoar frosting") appearance of the duodenal mucosa.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208651">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335883"><div><strong>Congenital bile acid synthesis defect 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335883</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1843116</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract resulting from a primary failure to synthesize bile acids. Affected infants show failure to thrive and secondary coagulopathy. In most forms of the disorder, there is a favorable response to oral bile acid therapy (summary by Cheng et al., 2003). Genetic Heterogeneity of Congenital Defects in Bile Acid Synthesis There are several disorders that result from defects in bile acid synthesis. See CBAS2 (235555), caused by mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1; 604741) on chromosome 7q33; CBAS3 (613812), caused by mutation in the 7-alpha hydroxylase gene (CYP7B1; 603711) on chromosome 8q12; CBAS4 (214950), caused by mutation in the AMACR gene (604489) on chromosome 5p13; CBAS5 (616278), caused by mutation in the ABCD3 gene (170995) on chromosome 1p21; and CBAS6 (617308), caused by mutation in the ACOX2 gene (601641) on chromosome 3p14. See also progressive familial intrahepatic cholestasis (PFIC1; 211600), which has a similar phenotype.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335883">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343403"><div><strong>Oculocerebrofacial syndrome, Kaufman type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343403</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kaufman oculocerebrofacial syndrome (KOS) is characterized by developmental delay, severe intellectual disability, and distinctive craniofacial features. Most affected children have prenatal-onset microcephaly, hypotonia, and growth deficiency. Feeding issues, ocular abnormalities, hearing impairment, and respiratory tract abnormalities are common. Ocular abnormalities can include structural abnormalities (microcornea or microphthalmia, coloboma, optic nerve hypoplasia), refractive errors (myopia ± astigmatism, hyperopia), strabismus, and entropion. Both conductive and sensorineural hearing loss have been reported as well as mixed conductive-sensorineural hearing loss of variable severity. Breathing problems can lead to prolonged hospitalization after birth in more than half of individuals. Less common findings include ectodermal abnormalities, cardiac manifestations, urogenital abnormalities, seizures, and skeletal abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343403">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350479"><div><strong>Gaucher disease due to saposin C deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350479</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1864651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350479">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_443955"><div><strong>ALG9 congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>443955</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931006</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorders of glycosylation (CDGs) that represent defects of dolichol-linked oligosaccharide assembly are classified as CDG type I. For a general description and a discussion of the classification of CDGs, see CDG1A (212065).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/443955">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_444010"><div><strong>Potocki-Lupski syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>444010</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931246</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Potocki-Lupski syndrome (PTLS) is characterized by cognitive, behavioral, and medical manifestations. Cognitively, most individuals present with developmental delay, later meeting criteria for moderate intellectual disability. Behaviorally, issues with attention, hyperactivity, withdrawal, and anxiety may be seen. Some individuals meet criteria for autism spectrum disorder. Medically, hypotonia, oropharyngeal dysphagia leading to failure to thrive, congenital heart disease, hypoglycemia associated with growth hormone deficiency, and mildly dysmorphic facial features are observed. Medical manifestations typically lead to identification of PTLS in infancy; however, those with only behavioral and cognitive manifestations may be identified in later childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/444010">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482157"><div><strong>Pancreatic triacylglycerol lipase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482157</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3280527</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital pancreatic lipase deficiency is a rare, monoenzymatic form of exocrine pancreatic failure. All reported patients have presented with similar symptoms and clinical findings, including oily/greasy stools from infancy or early childhood and the absence of discernible pancreatic disease. Failure to thrive has not been observed. Analyses of duodenal contents consistently show a marked decrease of pancreatic lipolytic activity (summary by Figarella et al., 1980).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482157">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_763607"><div><strong>Peroxisome biogenesis disorder type 3B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>763607</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3550693</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. While individual phenotypes (e.g., Zellweger syndrome [ZS], neonatal adrenoleukodystrophy [NALD], and infantile Refsum disease [IRD]) were described in the past before the biochemical and molecular bases of this spectrum were fully determined, the term "ZSD" is now used to refer to all individuals with a defect in one of the ZSD-PEX genes regardless of phenotype. Individuals with ZSD usually come to clinical attention in the newborn period or later in childhood. Affected newborns are hypotonic and feed poorly. They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and the long bones), and liver disease that can be severe. Infants with severe ZSD are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Individuals with intermediate/milder ZSD do not have congenital malformations, but rather progressive peroxisome dysfunction variably manifest as sensory loss (secondary to retinal dystrophy and sensorineural hearing loss), neurologic involvement (ataxia, polyneuropathy, and leukodystrophy), liver dysfunction, adrenal insufficiency, and renal oxalate stones. While hypotonia and developmental delays are typical, intellect can be normal. Some have osteopenia; almost all have ameleogenesis imperfecta in the secondary teeth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/763607">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1639219"><div><strong>Familial hypobetalipoproteinemia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1639219</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with biallelic APOB-related familial hypobetalipoproteinemia (APOB-FHBL) may present from infancy through to adulthood with a range of clinical symptoms including deficiency of fat-soluble vitamins and gastrointestinal and neurologic dysfunction. Affected individuals typically have plasma total cholesterol, LDL cholesterol, and apo B levels below the fifth centile for age and sex. Acanthocytosis, elevated liver enzymes, and hyperbilirubinemia may also be found. The most common clinical findings are hepatomegaly, steatorrhea, and failure to thrive / growth deficiency. In the absence of treatment, affected individuals can develop atypical pigmentation of the retina; progressive loss of deep tendon reflexes, vibratory sense, and proprioception; muscle pain or weakness; dysarthria; ataxia; tremors; and steatohepatitis, fibrosis, and rarely, cirrhosis of the liver. Individuals with a heterozygous, typically truncating pathogenic variant in APOB are usually asymptomatic with mild liver dysfunction and hepatic steatosis. However, about 5%-10% of individuals with heterozygous APOB-FHBL develop relatively more severe nonalcoholic steatohepatitis requiring medical attention and occasionally progressing to cirrhosis, albeit very rarely.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1639219">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648421"><div><strong>Squalene synthase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648421</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748427</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Squalene synthase deficiency (SQSD) is a rare inborn error of cholesterol biosynthesis with multisystem clinical manifestations similar to Smith-Lemli-Optiz syndrome. Key clinical features include facial dysmorphism, a generalized seizure disorder presenting in the neonatal period, nonspecific structural brain malformations, cortical visual impairment, optic nerve hypoplasia, profound developmental delay / intellectual disability, dry skin with photosensitivity, and genital malformations in males.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648421">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1716458"><div><strong>Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1716458</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5394137</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome (PHRINL) is an autosomal recessive multisystem disorder with onset in utero and death in the neonatal period. Rare patients may survive a few months. Affected infants show respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit. Additional features include corneal clouding, seizures, dysmorphic facies, contractures, and progressive pontocerebellar hypoplasia with simplified gyral pattern and white matter abnormalities. Some patients may have cardiac anomalies or cardiac hypertrophy. Laboratory studies show evidence consistent with mitochondrial defects and/or abnormal cholesterol or lipid metabolism. Depending on the type of mutation or deletion, some patients may have a less severe disorder (see GENOTYPE/PHENOTYPE CORRELATIONS) (summary by Desai et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1716458">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1798933"><div><strong>Microcephaly-congenital cataract-psoriasiform dermatitis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1798933</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5567510</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1798933">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824091"><div><strong>Familial apolipoprotein gene cluster deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824091</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774318</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Apolipoprotein (apo) A-I is the major protein of HDL cholesterol, whereas apoC-III and apoA-IV are minor components. The genes coding for apoA-I, apoC-III, and apoA-IV are adjacent to one another on the long arm of chromosome 11. Familial apolipoprotein gene cluster deletion syndrome has been described in 1 family and found to be a homozygous deletion of the entire APOA1/C3/A4 gene complex. This results in a lack of expression of these plasma lipoproteins, with marked HDL-C deficiency in the homozygote and approximately half-normal levels of these apolipoproteins and HDL-C in the heterozygotes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824091">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_443955" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ALG9 congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208651" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chylomicron retention disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital bile acid synthesis defect 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_59797" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dubowitz syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824091" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial apolipoprotein gene cluster deletion syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (16)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1639219" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hypobetalipoproteinemia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350479" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gaucher disease due to saposin C deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1798933" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly-congenital cataract-psoriasiform dermatitis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343403" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculocerebrofacial syndrome, Kaufman type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancreatic triacylglycerol lipase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_763607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder type 3B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_138111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PMM2-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1716458" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_444010" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Potocki-Lupski syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smith-Lemli-Opitz syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648421" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Squalene synthase deficiency</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37089071">Low cholesterol states: clinical implications and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gill PK,
|
||
Hegele RA</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Endocrinol Metab</span>
|
||
2023 May;18(3):241-253.
|
||
Epub 2023 Apr 23
|
||
doi: 10.1080/17446651.2023.2204932.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37089071" target="_blank">37089071</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36243606">Guidance for the diagnosis and treatment of hypolipidemia disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bredefeld C,
|
||
Hussain MM,
|
||
Averna M,
|
||
Black DD,
|
||
Brin MF,
|
||
Burnett JR,
|
||
Charrière S,
|
||
Cuerq C,
|
||
Davidson NO,
|
||
Deckelbaum RJ,
|
||
Goldberg IJ,
|
||
Granot E,
|
||
Hegele RA,
|
||
Ishibashi S,
|
||
Karmally W,
|
||
Levy E,
|
||
Moulin P,
|
||
Okazaki H,
|
||
Poinsot P,
|
||
Rader DJ,
|
||
Takahashi M,
|
||
Tarugi P,
|
||
Traber MG,
|
||
Di Filippo M,
|
||
Peretti N</span><br />
|
||
<span class="medgenPMjournal">J Clin Lipidol</span>
|
||
2022 Nov-Dec;16(6):797-812.
|
||
Epub 2022 Sep 29
|
||
doi: 10.1016/j.jacl.2022.08.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36243606" target="_blank">36243606</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24288038">Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee J,
|
||
Hegele RA</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2014 May;37(3):333-9.
|
||
Epub 2013 Nov 28
|
||
doi: 10.1007/s10545-013-9665-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24288038" target="_blank">24288038</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hypocholesterolemia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (25)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35963635">LDL Cholesterol-How Low Can We Go?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tobert JA</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
2022 Sep;51(3):681-690.
|
||
Epub 2022 Jul 4
|
||
doi: 10.1016/j.ecl.2022.01.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35963635" target="_blank">35963635</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34007133">Metabolic and cardiovascular complications after virological cure in hepatitis C: What awaits beyond.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shengir M,
|
||
Elgara M,
|
||
Sebastiani G</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2021 May 7;27(17):1959-1972.
|
||
doi: 10.3748/wjg.v27.i17.1959.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34007133" target="_blank">34007133</a><a href="/pmc/articles/PMC8108037" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33787283">Fontan-Associated Dyslipidemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lubert AM,
|
||
Alsaied T,
|
||
Palermo JJ,
|
||
Anwar N,
|
||
Urbina EM,
|
||
Brown NM,
|
||
Alexander C,
|
||
Almeneisi H,
|
||
Wu F,
|
||
Leventhal AR,
|
||
Aldweib N,
|
||
Mendelson M,
|
||
Opotowsky AR</span><br />
|
||
<span class="medgenPMjournal">J Am Heart Assoc</span>
|
||
2021 Apr 6;10(7):e019578.
|
||
Epub 2021 Mar 31
|
||
doi: 10.1161/JAHA.120.019578.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33787283" target="_blank">33787283</a><a href="/pmc/articles/PMC8174355" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28922188">New insights into the role of glycosylation in lipoprotein metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van den Boogert MAW,
|
||
Rader DJ,
|
||
Holleboom AG</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Lipidol</span>
|
||
2017 Dec;28(6):502-506.
|
||
doi: 10.1097/MOL.0000000000000461.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28922188" target="_blank">28922188</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16286875">Intracerebral hemorrhage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Badjatia N,
|
||
Rosand J</span><br />
|
||
<span class="medgenPMjournal">Neurologist</span>
|
||
2005 Nov;11(6):311-24.
|
||
doi: 10.1097/01.nrl.0000178757.68551.26.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16286875" target="_blank">16286875</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypocholesterolemia%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (234)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36243606">Guidance for the diagnosis and treatment of hypolipidemia disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bredefeld C,
|
||
Hussain MM,
|
||
Averna M,
|
||
Black DD,
|
||
Brin MF,
|
||
Burnett JR,
|
||
Charrière S,
|
||
Cuerq C,
|
||
Davidson NO,
|
||
Deckelbaum RJ,
|
||
Goldberg IJ,
|
||
Granot E,
|
||
Hegele RA,
|
||
Ishibashi S,
|
||
Karmally W,
|
||
Levy E,
|
||
Moulin P,
|
||
Okazaki H,
|
||
Poinsot P,
|
||
Rader DJ,
|
||
Takahashi M,
|
||
Tarugi P,
|
||
Traber MG,
|
||
Di Filippo M,
|
||
Peretti N</span><br />
|
||
<span class="medgenPMjournal">J Clin Lipidol</span>
|
||
2022 Nov-Dec;16(6):797-812.
|
||
Epub 2022 Sep 29
|
||
doi: 10.1016/j.jacl.2022.08.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36243606" target="_blank">36243606</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34715007">The Many Roles of Cholesterol in Sepsis: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hofmaenner DA,
|
||
Kleyman A,
|
||
Press A,
|
||
Bauer M,
|
||
Singer M</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2022 Feb 15;205(4):388-396.
|
||
doi: 10.1164/rccm.202105-1197TR.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34715007" target="_blank">34715007</a><a href="/pmc/articles/PMC8886946" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34007133">Metabolic and cardiovascular complications after virological cure in hepatitis C: What awaits beyond.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shengir M,
|
||
Elgara M,
|
||
Sebastiani G</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2021 May 7;27(17):1959-1972.
|
||
doi: 10.3748/wjg.v27.i17.1959.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34007133" target="_blank">34007133</a><a href="/pmc/articles/PMC8108037" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33787283">Fontan-Associated Dyslipidemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lubert AM,
|
||
Alsaied T,
|
||
Palermo JJ,
|
||
Anwar N,
|
||
Urbina EM,
|
||
Brown NM,
|
||
Alexander C,
|
||
Almeneisi H,
|
||
Wu F,
|
||
Leventhal AR,
|
||
Aldweib N,
|
||
Mendelson M,
|
||
Opotowsky AR</span><br />
|
||
<span class="medgenPMjournal">J Am Heart Assoc</span>
|
||
2021 Apr 6;10(7):e019578.
|
||
Epub 2021 Mar 31
|
||
doi: 10.1161/JAHA.120.019578.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33787283" target="_blank">33787283</a><a href="/pmc/articles/PMC8174355" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2666625">Hypocholesterolemia in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Granot E,
|
||
Deckelbaum RJ</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1989 Aug;115(2):171-85.
|
||
doi: 10.1016/s0022-3476(89)80062-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2666625" target="_blank">2666625</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypocholesterolemia%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (139)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35963635">LDL Cholesterol-How Low Can We Go?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tobert JA</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
2022 Sep;51(3):681-690.
|
||
Epub 2022 Jul 4
|
||
doi: 10.1016/j.ecl.2022.01.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35963635" target="_blank">35963635</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34715007">The Many Roles of Cholesterol in Sepsis: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hofmaenner DA,
|
||
Kleyman A,
|
||
Press A,
|
||
Bauer M,
|
||
Singer M</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2022 Feb 15;205(4):388-396.
|
||
doi: 10.1164/rccm.202105-1197TR.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34715007" target="_blank">34715007</a><a href="/pmc/articles/PMC8886946" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33787283">Fontan-Associated Dyslipidemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lubert AM,
|
||
Alsaied T,
|
||
Palermo JJ,
|
||
Anwar N,
|
||
Urbina EM,
|
||
Brown NM,
|
||
Alexander C,
|
||
Almeneisi H,
|
||
Wu F,
|
||
Leventhal AR,
|
||
Aldweib N,
|
||
Mendelson M,
|
||
Opotowsky AR</span><br />
|
||
<span class="medgenPMjournal">J Am Heart Assoc</span>
|
||
2021 Apr 6;10(7):e019578.
|
||
Epub 2021 Mar 31
|
||
doi: 10.1161/JAHA.120.019578.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33787283" target="_blank">33787283</a><a href="/pmc/articles/PMC8174355" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16286875">Intracerebral hemorrhage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Badjatia N,
|
||
Rosand J</span><br />
|
||
<span class="medgenPMjournal">Neurologist</span>
|
||
2005 Nov;11(6):311-24.
|
||
doi: 10.1097/01.nrl.0000178757.68551.26.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16286875" target="_blank">16286875</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8196699">Osteomalacic myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Russell JA</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
1994 Jun;17(6):578-80.
|
||
doi: 10.1002/mus.880170603.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8196699" target="_blank">8196699</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypocholesterolemia%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (116)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34715007">The Many Roles of Cholesterol in Sepsis: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hofmaenner DA,
|
||
Kleyman A,
|
||
Press A,
|
||
Bauer M,
|
||
Singer M</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2022 Feb 15;205(4):388-396.
|
||
doi: 10.1164/rccm.202105-1197TR.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34715007" target="_blank">34715007</a><a href="/pmc/articles/PMC8886946" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33787283">Fontan-Associated Dyslipidemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lubert AM,
|
||
Alsaied T,
|
||
Palermo JJ,
|
||
Anwar N,
|
||
Urbina EM,
|
||
Brown NM,
|
||
Alexander C,
|
||
Almeneisi H,
|
||
Wu F,
|
||
Leventhal AR,
|
||
Aldweib N,
|
||
Mendelson M,
|
||
Opotowsky AR</span><br />
|
||
<span class="medgenPMjournal">J Am Heart Assoc</span>
|
||
2021 Apr 6;10(7):e019578.
|
||
Epub 2021 Mar 31
|
||
doi: 10.1161/JAHA.120.019578.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33787283" target="_blank">33787283</a><a href="/pmc/articles/PMC8174355" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29177578">Abnormalities of Lipoprotein Levels in Liver Cirrhosis: Clinical Relevance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Privitera G,
|
||
Spadaro L,
|
||
Marchisello S,
|
||
Fede G,
|
||
Purrello F</span><br />
|
||
<span class="medgenPMjournal">Dig Dis Sci</span>
|
||
2018 Jan;63(1):16-26.
|
||
Epub 2017 Nov 25
|
||
doi: 10.1007/s10620-017-4862-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29177578" target="_blank">29177578</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18649882">Molecular basis of PCSK9 function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lambert G,
|
||
Charlton F,
|
||
Rye KA,
|
||
Piper DE</span><br />
|
||
<span class="medgenPMjournal">Atherosclerosis</span>
|
||
2009 Mar;203(1):1-7.
|
||
Epub 2008 Jun 20
|
||
doi: 10.1016/j.atherosclerosis.2008.06.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18649882" target="_blank">18649882</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16286875">Intracerebral hemorrhage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Badjatia N,
|
||
Rosand J</span><br />
|
||
<span class="medgenPMjournal">Neurologist</span>
|
||
2005 Nov;11(6):311-24.
|
||
doi: 10.1097/01.nrl.0000178757.68551.26.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16286875" target="_blank">16286875</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypocholesterolemia%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (124)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34007133">Metabolic and cardiovascular complications after virological cure in hepatitis C: What awaits beyond.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shengir M,
|
||
Elgara M,
|
||
Sebastiani G</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2021 May 7;27(17):1959-1972.
|
||
doi: 10.3748/wjg.v27.i17.1959.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34007133" target="_blank">34007133</a><a href="/pmc/articles/PMC8108037" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30302558">Ezetimibe in high-risk, previously treated statin patients: a systematic review and network meta-analysis of lipid efficacy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lorenzi M,
|
||
Ambegaonkar B,
|
||
Baxter CA,
|
||
Jansen J,
|
||
Zoratti MJ,
|
||
Davies G</span><br />
|
||
<span class="medgenPMjournal">Clin Res Cardiol</span>
|
||
2019 May;108(5):487-509.
|
||
Epub 2018 Oct 9
|
||
doi: 10.1007/s00392-018-1379-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30302558" target="_blank">30302558</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29177578">Abnormalities of Lipoprotein Levels in Liver Cirrhosis: Clinical Relevance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Privitera G,
|
||
Spadaro L,
|
||
Marchisello S,
|
||
Fede G,
|
||
Purrello F</span><br />
|
||
<span class="medgenPMjournal">Dig Dis Sci</span>
|
||
2018 Jan;63(1):16-26.
|
||
Epub 2017 Nov 25
|
||
doi: 10.1007/s10620-017-4862-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29177578" target="_blank">29177578</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28883690">Direct-acting antiviral agents against hepatitis C virus and lipid metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanda T,
|
||
Moriyama M</span><br />
|
||
<span class="medgenPMjournal">World J Gastroenterol</span>
|
||
2017 Aug 21;23(31):5645-5649.
|
||
doi: 10.3748/wjg.v23.i31.5645.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28883690" target="_blank">28883690</a><a href="/pmc/articles/PMC5569279" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/11903494">Serum amyloid A and high-density lipoprotein cholesterol: serum markers of inflammation in sarcoidosis and other systemic disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salazar A,
|
||
Pintó X,
|
||
Mañá J</span><br />
|
||
<span class="medgenPMjournal">Eur J Clin Invest</span>
|
||
2001 Dec;31(12):1070-7.
|
||
doi: 10.1046/j.1365-2362.2001.00913.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11903494" target="_blank">11903494</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypocholesterolemia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (153)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/39587544">Serum lipid profile abnormalities among beta-thalassemia patients: a systematic review and meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Mohamed SOO,
|
||
Mohamed AEA,
|
||
Salih MSK,
|
||
Salih KSK,
|
||
Abdelrahman ASEE,
|
||
Abdelgadir AGA,
|
||
Ahmedkaroum MGA,
|
||
Abdalla GA,
|
||
Fadil HAM,
|
||
Abdelrahman MAM,
|
||
Salih NSA</span><br />
|
||
<span class="medgenPMjournal">Lipids Health Dis</span>
|
||
2024 Nov 25;23(1):388.
|
||
doi: 10.1186/s12944-024-02377-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39587544" target="_blank">39587544</a><a href="/pmc/articles/PMC11587755" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/30302558">Ezetimibe in high-risk, previously treated statin patients: a systematic review and network meta-analysis of lipid efficacy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lorenzi M,
|
||
Ambegaonkar B,
|
||
Baxter CA,
|
||
Jansen J,
|
||
Zoratti MJ,
|
||
Davies G</span><br />
|
||
<span class="medgenPMjournal">Clin Res Cardiol</span>
|
||
2019 May;108(5):487-509.
|
||
Epub 2018 Oct 9
|
||
doi: 10.1007/s00392-018-1379-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30302558" target="_blank">30302558</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/29960160">Lipid profile associated with the systemic inflammatory response syndrome and sepsis in critically ill patients.</a></div>
|
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|
||
Marson FAL,
|
||
Ribeiro AF,
|
||
Nogueira RJN</span><br />
|
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<span class="medgenPMjournal">Nutrition</span>
|
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2018 Nov;55-56:7-14.
|
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Epub 2018 May 9
|
||
doi: 10.1016/j.nut.2018.04.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29960160" target="_blank">29960160</a></div>
|
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