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Hereditary hypoparathyroidism

MedGen UID:
1842344
•Concept ID:
C5680825
•
Disease or Syndrome
Synonym: Genetic hypoparathyroidism
 
Monarch Initiative: MONDO:0016165
Orphanet: ORPHA208593

Definition

An instance of hypoparathyroidism that is caused by an inherited genomic modification in an individual. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary hypoparathyroidism

Professional guidelines

PubMed

Autoimmune polyendocrine syndrome type 1: Clinical manifestations, pathogenetic features, and management approach.
Bjørklund G, Pivin M, Hangan T, Yurkovskaya O, Pivina L
Autoimmun Rev 2022 Aug;21(8):103135. Epub 2022 Jun 9 doi: 10.1016/j.autrev.2022.103135. PMID: 35690244
COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome.
Gothelf D, Eliez S, Thompson T, Hinard C, Penniman L, Feinstein C, Kwon H, Jin S, Jo B, Antonarakis SE, Morris MA, Reiss AL
Nat Neurosci 2005 Nov;8(11):1500-2. Epub 2005 Oct 23 doi: 10.1038/nn1572. PMID: 16234808
Diagnosis and management of medullary thyroid carcinoma.
Massoll N, Mazzaferri EL
Clin Lab Med 2004 Mar;24(1):49-83. doi: 10.1016/j.cll.2004.01.006. PMID: 15157557

Recent clinical studies

Diagnosis

Pericardial effusion accompanying isolated hereditary hypoparathyroidism.
Riesenberg K, Pick N, Levy I, Borer A, Schlaeffer F
Isr Med Assoc J 1999 Nov;1(3):194-5. PMID: 10731334

Supplemental Content

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    Reviews

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