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Familial isolated hypoparathyroidism due to impaired PTH secretion

MedGen UID:
1843283
Concept ID:
C5680524
Disease or Syndrome
Synonym: familial isolated hypoparathyroidism due to impaired PTH secretion
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0016000
Orphanet: ORPHA189466

Definition

A rare genetic endocrine disease characterized by impaired secretion of the parathyroid hormone (PTH) by the parathyroid glands not causing other endocrine or developmental disturbances. Complications include impaired renal function, psychomotor and growth delay, delayed dentition, and cataracts. [from ORPHANET]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial isolated hypoparathyroidism due to impaired PTH secretion

Recent clinical studies

Diagnosis

Hawkes CP, Al Jubeh JM, Li D, Tucker SE, Rajiyah T, Levine MA
J Clin Endocrinol Metab 2022 May 17;107(6):e2449-e2458. doi: 10.1210/clinem/dgac086. PMID: 35165722Free PMC Article
Cinque L, Sparaneo A, Penta L, Mencarelli A, Rogaia D, Esposito S, Fabrizio FP, Baorda F, Verrotti A, Falorni A, Stangoni G, Hendy GN, Guarnieri V, Prontera P
J Clin Endocrinol Metab 2017 Nov 1;102(11):3961-3969. doi: 10.1210/jc.2017-00250. PMID: 28938448

Prognosis

Cinque L, Sparaneo A, Penta L, Mencarelli A, Rogaia D, Esposito S, Fabrizio FP, Baorda F, Verrotti A, Falorni A, Stangoni G, Hendy GN, Guarnieri V, Prontera P
J Clin Endocrinol Metab 2017 Nov 1;102(11):3961-3969. doi: 10.1210/jc.2017-00250. PMID: 28938448

Clinical prediction guides

Cinque L, Sparaneo A, Penta L, Mencarelli A, Rogaia D, Esposito S, Fabrizio FP, Baorda F, Verrotti A, Falorni A, Stangoni G, Hendy GN, Guarnieri V, Prontera P
J Clin Endocrinol Metab 2017 Nov 1;102(11):3961-3969. doi: 10.1210/jc.2017-00250. PMID: 28938448

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