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<!--
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||
UID=6985
|
||
ConceptID=C0020626
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypoparathyroidism</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6985</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.">C0020626</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 parathyroid hormone secretion; Deficiency of parathyrin; Deficiency of parathyroid hormone; Deficiency of PTH (parathyroid hormone); hypoparathyroidism; hypoparathyroidism, idiopathic (subtype); Low parathyroid hormone; parathyroid, underactivity of</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Deficiency of PTH (parathyroid hormone) (36976004); Hypoparathyroidism (36976004); Deficiency of parathyroid hormone (36976004); Deficiency of parathyrin (36976004)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000829">HP:0000829</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0001220" target="_blank">MONDO:0001220</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet_content ln">A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. [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 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="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0020626[DISCUI]&test_type=Clinical" ref="ncbi_uid=6985">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Hypoparathyroidism</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/893021" ref="tree=MeSH" title="MedGen record for Abnormality of the endocrine system">Abnormality of the endocrine system</a></span><ul><li><span class="TLline"><a href="/medgen/893009" ref="tree=MeSH" title="MedGen record for Abnormality of the parathyroid gland">Abnormality of the parathyroid gland</a></span><ul><li><span class="TLline"><a href="/medgen/868793" ref="tree=MeSH" title="MedGen record for Abnormality of the parathyroid physiology">Abnormality of the parathyroid physiology</a></span><ul><li><span class="matched_ds">Hypoparathyroidism</span><ul><li><span class="TLline"><a href="/medgen/422333" ref="tree=MeSH" title="MedGen record for 22q11 Deletion Syndrome">22q11 Deletion Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/4297" ref="tree=MeSH" title="MedGen record for DiGeorge syndrome">DiGeorge syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1378844" ref="tree=MeSH" title="MedGen record for Acquired Hypoparathyroidism">Acquired Hypoparathyroidism</a></span></li><li><span class="TLline"><a href="/medgen/488838" ref="tree=MeSH" title="MedGen record for Autoimmune hypoparathyroidism">Autoimmune hypoparathyroidism</a></span></li><li><span class="TLline"><a href="/medgen/87438" ref="tree=MeSH" title="MedGen record for Autosomal dominant hypocalcemia 1">Autosomal dominant hypocalcemia 1</a></span></li><li><span class="TLline"><a href="/medgen/264103" ref="tree=MeSH" title="MedGen record for Congenital hypoparathyroidism">Congenital hypoparathyroidism</a></span></li><li><span class="TLline"><a href="/medgen/87437" ref="tree=MeSH" title="MedGen record for Hypoparathyroidism - X-linked">Hypoparathyroidism - X-linked</a></span></li><li><span class="TLline"><a href="/medgen/327077" ref="tree=MeSH" title="MedGen record for Hypoparathyroidism, autosomal recessive">Hypoparathyroidism, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/1387268" ref="tree=MeSH" title="MedGen record for Iatrogenic Hypoparathyroidism">Iatrogenic Hypoparathyroidism</a></span></li><li><span class="TLline"><a href="/medgen/821224" ref="tree=MeSH" title="MedGen record for Primary Hypoparathyroidism">Primary Hypoparathyroidism</a></span></li><li><span class="TLline"><a href="/medgen/856941" ref="tree=MeSH" title="MedGen record for Transient Neonatal Hypoparathyroidism">Transient Neonatal Hypoparathyroidism</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
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<div class="portlet mgSection" id="ID_112">
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<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>
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_42426"><div><strong>Wilson disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42426</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.">C0019202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wilson disease is a disorder of copper metabolism that, when untreated, can present with hepatic, neurologic, or psychiatric disturbances – or a combination of these – in individuals ages three years to older than 70 years. Manifestations in untreated individuals vary among and within families. Liver disease can include recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations can include dysarthria, movement disorders (tremors, involuntary movements, chorea, choreoathetosis), dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement), dysautonomia, seizures, sleep disorders, or insomnia. Psychiatric disturbances can include depression, bipolar disorder / bipolar spectrum disorder, neurotic behaviors, personality changes, or psychosis. Other multisystem involvement can include the eye (Kayser-Fleischer rings), hemolytic anemia, the kidneys, the endocrine glands, and the heart.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42426">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_9618"><div><strong>Kearns-Sayre syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9618</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.">C0022541</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Single large-scale mitochondrial DNA deletion syndromes (SLSMDSs) comprise overlapping clinical phenotypes including Kearns-Sayre syndrome (KSS), KSS spectrum, Pearson syndrome (PS), chronic progressive external ophthalmoplegia (CPEO), and CPEO-plus. KSS is a progressive multisystem disorder with onset before age 20 years characterized by pigmentary retinopathy, CPEO, and cardiac conduction abnormality. Additional features can include cerebellar ataxia, tremor, intellectual disability or cognitive decline, dementia, sensorineural hearing loss, oropharyngeal and esophageal dysfunction, exercise intolerance, muscle weakness, and endocrinopathies. Brain imaging typically shows bilateral lesions in the globus pallidus and white matter. KSS spectrum includes individuals with KSS in addition to individuals with ptosis and/or ophthalmoparesis and at least one of the following: retinopathy, ataxia, cardiac conduction defects, hearing loss, growth deficiency, cognitive impairment, tremor, or cardiomyopathy. Compared to CPEO-plus, individuals with KSS spectrum have more severe muscle involvement (e.g., weakness, atrophy) and overall have a worse prognosis. PS is characterized by pancytopenia (typically transfusion-dependent sideroblastic anemia with variable cell line involvement), exocrine pancreatic dysfunction, poor weight gain, and lactic acidosis. PS manifestations also include renal tubular acidosis, short stature, and elevated liver enzymes. PS may be fatal in infancy due to neutropenia-related infection or refractory metabolic acidosis. CPEO is characterized by ptosis, ophthalmoplegia, oropharyngeal weakness, variable proximal limb weakness, and/or exercise intolerance. CPEO-plus includes CPEO with additional multisystemic involvement including neuropathy, diabetes mellitus, migraines, hypothyroidism, neuropsychiatric manifestations, and optic neuropathy. Rarely, an SLSMDS can manifest as Leigh syndrome, which is characterized as developmental delays, neurodevelopmental regression, lactic acidosis, and bilateral symmetric basal ganglia, brain stem, and/or midbrain lesions on MRI.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9618">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_39125"><div><strong>Polyglandular autoimmune syndrome, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39125</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.">C0085859</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autoimmune polyglandular syndrome type I (APS1) is characterized by the presence of 2 of 3 major clinical symptoms: Addison disease, and/or hypoparathyroidism, and/or chronic mucocutaneous candidiasis (Neufeld et al., 1981). However, variable APS1 phenotypes have been observed, even among sibs. In addition, some patients may exhibit apparent isolated hypoparathyroidism, an early manifestation of APS1 with peak incidence at around age 5 years; over long-term follow-up, the development of additional features of APS1 may be observed (Cranston et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39125">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_65085"><div><strong>Velocardiofacial syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65085</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.">C0220704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65085">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120529"><div><strong>Metaphyseal chondrodysplasia, Jansen type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120529</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.">C0265295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcemia and hypophosphatemia occur despite the lack of parathyroid abnormalities (summary by Cohen, 2002).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120529">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75567"><div><strong>CHARGE syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75567</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.">C0265354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75567">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162897"><div><strong>Kabuki syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162897</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.">C0796004</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild-to-moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities (including isolated premature thelarche in females), feeding problems, and hearing loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162897">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374443"><div><strong>Hypoparathyroidism, deafness, renal disease syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374443</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.">C1840333</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">HDR syndrome (HDRS), also known as Barakat syndrome, is a heterogeneous disorder characterized by the triad of Hypoparathyroidism (H), nerve Deafness (D) and/or Renal disease (R). Variable clinical features include hypogonadotrophic hypogonadism, polycystic ovaries, congenital heart disease, retinitis pigmentosa, and cognitive disability (Barakat et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374443">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338045"><div><strong>Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338045</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.">C1850406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338045">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383693"><div><strong>Dahlberg-Borer-Newcomer syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383693</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.">C1855477</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis and nail abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383693">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370148"><div><strong>Craniofacial dysplasia - osteopenia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370148</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.">C1970027</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370148">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1373312"><div><strong>Autosomal dominant Kenny-Caffey syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1373312</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.">C4316787</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">FAM111A-related skeletal dysplasias include the milder phenotype of Kenny-Caffey syndrome (KCS) and a more severe lethal phenotype, osteocraniostenosis (OCS). KCS is characterized by proportionate short stature (typically postnatal onset), relative macrocephaly, large anterior fontanel with delayed closure, characteristic facial features, cortical thickening of the long bones with stenosis of the medullary cavity, and ophthalmologic and dental manifestations. OCS is characterized by intrauterine growth deficiency, microcephaly, characteristic facial features, decreased skull ossification, slender long bones with cortical thickening, stenosis of the medullary cavity of the long bones, flared metaphyses, and thin ribs with thoracic and pulmonary hypoplasia leading to respiratory insufficiency. Perinatal fractures may occur. Primary hypoparathyroidism with hypocalcemia and hyperphosphatemia can occur in individuals with KCS and OCS.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1373312">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648433"><div><strong>X-linked Alport syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648433</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.">C4746986</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Alport syndrome is characterized by kidney manifestations, sensorineural hearing loss (SNHL), and ocular manifestations. In the absence of treatment, kidney disease progresses from microhematuria to proteinuria, progressive kidney insufficiency, and end-stage kidney disease (ESKD) in most males with X-linked Alport syndrome (XLAS), and in most males and females with autosomal recessive Alport syndrome (ARAS). Progressive SNHL is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In females with XLAS and individuals with autosomal dominant Alport syndrome (ADAS), ESKD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648433">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648299"><div><strong>Vertebral anomalies and variable endocrine and T-cell dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648299</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.">C4748741</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vertebral anomalies and variable endocrine and T-cell dysfunction is a syndrome characterized by an overlapping spectrum of features. Skeletal malformations primarily involve the vertebrae, and endocrine abnormalities involving parathyroid hormone (PTH; 168450), growth hormone (GH1; 139250), and the thyroid gland have been reported. T-cell abnormalities have been observed, with some patients showing thymus gland aplasia or hypoplasia. Patients have mild craniofacial dysmorphism, and some show developmental delay or behavioral problems. Cardiac defects may be present (Liu et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648299">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1713884"><div><strong>Hypoparathyroidism, familial isolated 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1713884</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.">C5241444</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Garfield and Karaplis (2001) reviewed the various causes and clinical forms of hypoparathyroidism. They noted that hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia. It manifests when parathyroid hormone (PTH; 168450) secreted from the parathyroid glands is insufficient to maintain normal extracellular fluid calcium concentrations or, less commonly, when PTH is unable to function optimally in target tissues, despite adequate circulating levels. Genetic Heterogeneity of Familial Isolated Hypoparathyroidism FIH2 (618883) is caused by mutation in the GCM2 gene (603716). An X-linked form of familial hypoparathyroidism, HYPX (307700), is caused by interstitial deletion/insertion on chromosome Xq27.1, which may have a position effect on expression of SOX3 (313430). Congenital absence of the parathyroid and thymus glands (III and IV pharyngeal pouch syndrome, or DiGeorge syndrome, 188400) is usually a sporadic condition (Taitz et al., 1966).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1713884">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1373312" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant Kenny-Caffey syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75567" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CHARGE syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370148" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniofacial dysplasia - osteopenia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dahlberg-Borer-Newcomer syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374443" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoparathyroidism, deafness, renal disease syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (15)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1713884" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoparathyroidism, familial isolated 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162897" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kabuki syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kearns-Sayre syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metaphyseal chondrodysplasia, Jansen type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_39125" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyglandular autoimmune syndrome, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_65085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Velocardiofacial syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648299" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebral anomalies and variable endocrine and T-cell dysfunction</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_42426" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wilson disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648433" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked Alport syndrome</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/36054621">Evaluation and Management of Hypoparathyroidism Summary Statement and Guidelines from the Second International Workshop.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan AA,
|
||
Bilezikian JP,
|
||
Brandi ML,
|
||
Clarke BL,
|
||
Gittoes NJ,
|
||
Pasieka JL,
|
||
Rejnmark L,
|
||
Shoback DM,
|
||
Potts JT,
|
||
Guyatt GH,
|
||
Mannstadt M</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2022 Dec;37(12):2568-2585.
|
||
Epub 2022 Nov 14
|
||
doi: 10.1002/jbmr.4691.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36054621" target="_blank">36054621</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32367335">Diagnosis and management of hypocalcemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pepe J,
|
||
Colangelo L,
|
||
Biamonte F,
|
||
Sonato C,
|
||
Danese VC,
|
||
Cecchetti V,
|
||
Occhiuto M,
|
||
Piazzolla V,
|
||
De Martino V,
|
||
Ferrone F,
|
||
Minisola S,
|
||
Cipriani C</span><br />
|
||
<span class="medgenPMjournal">Endocrine</span>
|
||
2020 Sep;69(3):485-495.
|
||
Epub 2020 May 4
|
||
doi: 10.1007/s12020-020-02324-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32367335" target="_blank">32367335</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26943719">Management of Hypoparathyroidism: Summary Statement and Guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brandi ML,
|
||
Bilezikian JP,
|
||
Shoback D,
|
||
Bouillon R,
|
||
Clarke BL,
|
||
Thakker RV,
|
||
Khan AA,
|
||
Potts JT Jr</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2016 Jun;101(6):2273-83.
|
||
Epub 2016 Mar 4
|
||
doi: 10.1210/jc.2015-3907.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26943719" target="_blank">26943719</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hypoparathyroidism%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 (266)</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/38767063">Hypoparathyroidism update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chiang C</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2024 Aug 1;31(4):164-169.
|
||
Epub 2024 May 16
|
||
doi: 10.1097/MED.0000000000000868.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38767063" target="_blank">38767063</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32322899">Hypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bilezikian JP</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2020 Jun 1;105(6):1722-36.
|
||
doi: 10.1210/clinem/dgaa113.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32322899" target="_blank">32322899</a><a href="/pmc/articles/PMC7176479" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30641530">Conventional Treatment of Hypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marcucci G,
|
||
Brandi ML</span><br />
|
||
<span class="medgenPMjournal">Front Horm Res</span>
|
||
2019;51:160-164.
|
||
Epub 2018 Nov 19
|
||
doi: 10.1159/000491046.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30641530" target="_blank">30641530</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30390813">Surgical Hypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kazaure HS,
|
||
Sosa JA</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
2018 Dec;47(4):783-796.
|
||
Epub 2018 Oct 12
|
||
doi: 10.1016/j.ecl.2018.07.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30390813" target="_blank">30390813</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26943720">Epidemiology and Diagnosis of Hypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clarke BL,
|
||
Brown EM,
|
||
Collins MT,
|
||
Jüppner H,
|
||
Lakatos P,
|
||
Levine MA,
|
||
Mannstadt MM,
|
||
Bilezikian JP,
|
||
Romanischen AF,
|
||
Thakker RV</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2016 Jun;101(6):2284-99.
|
||
Epub 2016 Mar 4
|
||
doi: 10.1210/jc.2015-3908.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26943720" target="_blank">26943720</a><a href="/pmc/articles/PMC5393595" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoparathyroidism%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 (2153)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36375809">Hypoparathyroidism: Genetics and Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mannstadt M,
|
||
Cianferotti L,
|
||
Gafni RI,
|
||
Giusti F,
|
||
Kemp EH,
|
||
Koch CA,
|
||
Roszko KL,
|
||
Yao L,
|
||
Guyatt GH,
|
||
Thakker RV,
|
||
Xia W,
|
||
Brandi ML</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2022 Dec;37(12):2615-2629.
|
||
Epub 2022 Nov 14
|
||
doi: 10.1002/jbmr.4667.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36375809" target="_blank">36375809</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32367335">Diagnosis and management of hypocalcemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pepe J,
|
||
Colangelo L,
|
||
Biamonte F,
|
||
Sonato C,
|
||
Danese VC,
|
||
Cecchetti V,
|
||
Occhiuto M,
|
||
Piazzolla V,
|
||
De Martino V,
|
||
Ferrone F,
|
||
Minisola S,
|
||
Cipriani C</span><br />
|
||
<span class="medgenPMjournal">Endocrine</span>
|
||
2020 Sep;69(3):485-495.
|
||
Epub 2020 May 4
|
||
doi: 10.1007/s12020-020-02324-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32367335" target="_blank">32367335</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31042826">Hypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gafni RI,
|
||
Collins MT</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2019 May 2;380(18):1738-1747.
|
||
doi: 10.1056/NEJMcp1800213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31042826" target="_blank">31042826</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28857066">Hypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mannstadt M,
|
||
Bilezikian JP,
|
||
Thakker RV,
|
||
Hannan FM,
|
||
Clarke BL,
|
||
Rejnmark L,
|
||
Mitchell DM,
|
||
Vokes TJ,
|
||
Winer KK,
|
||
Shoback DM</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2017 Aug 31;3:17055.
|
||
doi: 10.1038/nrdp.2017.55.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28857066" target="_blank">28857066</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26943720">Epidemiology and Diagnosis of Hypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clarke BL,
|
||
Brown EM,
|
||
Collins MT,
|
||
Jüppner H,
|
||
Lakatos P,
|
||
Levine MA,
|
||
Mannstadt MM,
|
||
Bilezikian JP,
|
||
Romanischen AF,
|
||
Thakker RV</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2016 Jun;101(6):2284-99.
|
||
Epub 2016 Mar 4
|
||
doi: 10.1210/jc.2015-3908.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26943720" target="_blank">26943720</a><a href="/pmc/articles/PMC5393595" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoparathyroidism%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 (1801)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37080533">New directions in the treatment of hypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hamny I,
|
||
Chanson P,
|
||
Borson-Chazot F</span><br />
|
||
<span class="medgenPMjournal">Ann Endocrinol (Paris)</span>
|
||
2023 Aug;84(4):460-465.
|
||
Epub 2023 Apr 18
|
||
doi: 10.1016/j.ando.2023.04.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37080533" target="_blank">37080533</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36271471">Efficacy and Safety of Parathyroid Hormone Replacement With TransCon PTH in Hypoparathyroidism: 26-Week Results From the Phase 3 PaTHway Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan AA,
|
||
Rubin MR,
|
||
Schwarz P,
|
||
Vokes T,
|
||
Shoback DM,
|
||
Gagnon C,
|
||
Palermo A,
|
||
Marcocci C,
|
||
Clarke BL,
|
||
Abbott LG,
|
||
Hofbauer LC,
|
||
Kohlmeier L,
|
||
Pihl S,
|
||
An X,
|
||
Eng WF,
|
||
Smith AR,
|
||
Ukena J,
|
||
Sibley CT,
|
||
Shu AD,
|
||
Rejnmark L</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2023 Jan;38(1):14-25.
|
||
Epub 2022 Nov 12
|
||
doi: 10.1002/jbmr.4726.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36271471" target="_blank">36271471</a><a href="/pmc/articles/PMC10099823" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31042826">Hypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gafni RI,
|
||
Collins MT</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2019 May 2;380(18):1738-1747.
|
||
doi: 10.1056/NEJMcp1800213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31042826" target="_blank">31042826</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30390822">Hypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ioachimescu AG</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
2018 Dec;47(4):xiii.
|
||
doi: 10.1016/j.ecl.2018.09.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30390822" target="_blank">30390822</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30390813">Surgical Hypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kazaure HS,
|
||
Sosa JA</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
2018 Dec;47(4):783-796.
|
||
Epub 2018 Oct 12
|
||
doi: 10.1016/j.ecl.2018.07.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30390813" target="_blank">30390813</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoparathyroidism%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 (2182)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30788669">Huge variations in definition and reported incidence of postsurgical hypoparathyroidism: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harsløf T,
|
||
Rolighed L,
|
||
Rejnmark L</span><br />
|
||
<span class="medgenPMjournal">Endocrine</span>
|
||
2019 Apr;64(1):176-183.
|
||
Epub 2019 Feb 20
|
||
doi: 10.1007/s12020-019-01858-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30788669" target="_blank">30788669</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30443043">The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hannan FM,
|
||
Kallay E,
|
||
Chang W,
|
||
Brandi ML,
|
||
Thakker RV</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2018 Dec;15(1):33-51.
|
||
doi: 10.1038/s41574-018-0115-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30443043" target="_blank">30443043</a><a href="/pmc/articles/PMC6535143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26943720">Epidemiology and Diagnosis of Hypoparathyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clarke BL,
|
||
Brown EM,
|
||
Collins MT,
|
||
Jüppner H,
|
||
Lakatos P,
|
||
Levine MA,
|
||
Mannstadt MM,
|
||
Bilezikian JP,
|
||
Romanischen AF,
|
||
Thakker RV</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2016 Jun;101(6):2284-99.
|
||
Epub 2016 Mar 4
|
||
doi: 10.1210/jc.2015-3908.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26943720" target="_blank">26943720</a><a href="/pmc/articles/PMC5393595" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10631928">Hypocalcemia and chromosome 22q11 microdeletion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garabédian M</span><br />
|
||
<span class="medgenPMjournal">Genet Couns</span>
|
||
1999;10(4):389-94.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10631928" target="_blank">10631928</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8858385">Autoimmune polyendocrinopathy--candidiasis--ectodermal dystrophy (APECED).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perheentupa J</span><br />
|
||
<span class="medgenPMjournal">Horm Metab Res</span>
|
||
1996 Jul;28(7):353-6.
|
||
doi: 10.1055/s-2007-979814.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8858385" target="_blank">8858385</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoparathyroidism%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 (1096)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36271471">Efficacy and Safety of Parathyroid Hormone Replacement With TransCon PTH in Hypoparathyroidism: 26-Week Results From the Phase 3 PaTHway Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan AA,
|
||
Rubin MR,
|
||
Schwarz P,
|
||
Vokes T,
|
||
Shoback DM,
|
||
Gagnon C,
|
||
Palermo A,
|
||
Marcocci C,
|
||
Clarke BL,
|
||
Abbott LG,
|
||
Hofbauer LC,
|
||
Kohlmeier L,
|
||
Pihl S,
|
||
An X,
|
||
Eng WF,
|
||
Smith AR,
|
||
Ukena J,
|
||
Sibley CT,
|
||
Shu AD,
|
||
Rejnmark L</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2023 Jan;38(1):14-25.
|
||
Epub 2022 Nov 12
|
||
doi: 10.1002/jbmr.4726.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36271471" target="_blank">36271471</a><a href="/pmc/articles/PMC10099823" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36382749">Hypoparathyroidism: update of guidelines from the 2022 International Task Force.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clarke BL</span><br />
|
||
<span class="medgenPMjournal">Arch Endocrinol Metab</span>
|
||
2022 Nov 11;66(5):604-610.
|
||
doi: 10.20945/2359-3997000000549.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36382749" target="_blank">36382749</a><a href="/pmc/articles/PMC10118814" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36375809">Hypoparathyroidism: Genetics and Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mannstadt M,
|
||
Cianferotti L,
|
||
Gafni RI,
|
||
Giusti F,
|
||
Kemp EH,
|
||
Koch CA,
|
||
Roszko KL,
|
||
Yao L,
|
||
Guyatt GH,
|
||
Thakker RV,
|
||
Xia W,
|
||
Brandi ML</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2022 Dec;37(12):2615-2629.
|
||
Epub 2022 Nov 14
|
||
doi: 10.1002/jbmr.4667.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36375809" target="_blank">36375809</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33958142">Autoinmune polyendocrinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fernández Miró M,
|
||
Colom Comí C,
|
||
Godoy Lorenzo R</span><br />
|
||
<span class="medgenPMjournal">Med Clin (Barc)</span>
|
||
2021 Sep 10;157(5):241-246.
|
||
Epub 2021 May 3
|
||
doi: 10.1016/j.medcli.2021.02.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33958142" target="_blank">33958142</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31670631">Post-thyroidectomy Hypocalcemia - Risk Factors and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Păduraru DN,
|
||
Ion D,
|
||
Carsote M,
|
||
Andronic O,
|
||
Bolocan A</span><br />
|
||
<span class="medgenPMjournal">Chirurgia (Bucur)</span>
|
||
2019 Sept-Oct;114(5):564-570.
|
||
doi: 10.21614/chirurgia.114.5.564.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31670631" target="_blank">31670631</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoparathyroidism%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 (1152)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36375809">Hypoparathyroidism: Genetics and Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mannstadt M,
|
||
Cianferotti L,
|
||
Gafni RI,
|
||
Giusti F,
|
||
Kemp EH,
|
||
Koch CA,
|
||
Roszko KL,
|
||
Yao L,
|
||
Guyatt GH,
|
||
Thakker RV,
|
||
Xia W,
|
||
Brandi ML</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2022 Dec;37(12):2615-2629.
|
||
Epub 2022 Nov 14
|
||
doi: 10.1002/jbmr.4667.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36375809" target="_blank">36375809</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36153665">Etiology and Pathophysiology of Hypoparathyroidism: A Narrative Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pasieka JL,
|
||
Wentworth K,
|
||
Yeo CT,
|
||
Cremers S,
|
||
Dempster D,
|
||
Fukumoto S,
|
||
Goswami R,
|
||
Houillier P,
|
||
Levine MA,
|
||
Pasternak JD,
|
||
Perrier ND,
|
||
Sitges-Serra A,
|
||
Shoback DM</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2022 Dec;37(12):2586-2601.
|
||
Epub 2022 Nov 23
|
||
doi: 10.1002/jbmr.4714.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36153665" target="_blank">36153665</a><a href="/pmc/articles/PMC10364481" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34908194">Indocyanine green fluorescence for parathyroid gland identification and function prediction: Systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim DH,
|
||
Kim SH,
|
||
Jung J,
|
||
Kim SW,
|
||
Hwang SH</span><br />
|
||
<span class="medgenPMjournal">Head Neck</span>
|
||
2022 Mar;44(3):783-791.
|
||
Epub 2021 Dec 15
|
||
doi: 10.1002/hed.26950.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34908194" target="_blank">34908194</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34282552">Thyroid surgery during the COVID-19 pandemic: results from a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scappaticcio L,
|
||
Maiorino MI,
|
||
Iorio S,
|
||
Camponovo C,
|
||
Piccardo A,
|
||
Bellastella G,
|
||
Docimo G,
|
||
Esposito K,
|
||
Trimboli P</span><br />
|
||
<span class="medgenPMjournal">J Endocrinol Invest</span>
|
||
2022 Jan;45(1):181-188.
|
||
Epub 2021 Jul 19
|
||
doi: 10.1007/s40618-021-01641-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34282552" target="_blank">34282552</a><a href="/pmc/articles/PMC8288414" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33779362">Risk factors for postoperative hypocalcaemia after thyroidectomy: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen Z,
|
||
Zhao Q,
|
||
Du J,
|
||
Wang Y,
|
||
Han R,
|
||
Xu C,
|
||
Chen X,
|
||
Shu M</span><br />
|
||
<span class="medgenPMjournal">J Int Med Res</span>
|
||
2021 Mar;49(3):300060521996911.
|
||
doi: 10.1177/0300060521996911.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33779362" target="_blank">33779362</a><a href="/pmc/articles/PMC8010841" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoparathyroidism%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (99)</a></div></div>
|
||
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||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0020626%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
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<li><a href="/gtr/tests?term=C0020626%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0020626%5bDISCUI%5d" target="_blank">See all (7)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hypoparathyroidism%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Hypoparathyroidism%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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