Familial isolated hypoparathyroidism due to impaired PTH secretion

General Information (adopted from Orphanet):

Synonyms, Signs: HYPOPARATHYROIDISM, AUTOSOMAL DOMINANT HYPOPARATHYROIDISM, AUTOSOMAL RECESSIVE, INCLUDED
FIH
Number of Symptoms 12
OrphanetNr: 189466
OMIM Id: 146200
ICD-10: E20.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Familial isolated hypoparathyroidism
 -Rare endocrine disease
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000518) Cataract 454 / 7739
2
(HPO:0001250) Seizures 1245 / 7739
3
(HPO:0000829) Hypoparathyroidism 22 / 7739
4
(HPO:0002514) Cerebral calcification 89 / 7739
5
(HPO:0002905) Hyperphosphatemia 18 / 7739
6
(HPO:0002901) Hypocalcemia 56 / 7739
7
(HPO:0001281) Tetany 20 / 7739
8
(OMIM) No circulating antibodies to parathyroid hormone 1 / 7739
9
(OMIM) Intracerebral calcification on CT scan 1 / 7739
10
(OMIM) Chronic tetany 1 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
(OMIM) Undetectable or subnormal plasma immunoreactive PTH 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Garfield and Karaplis (2001) stated that the predominant clinical manifestations of hypoparathyroidism are those related to hypocalcemia. In the acute setting, neuromuscular irritability, including perioral paresthesias, tingling of the fingers and toes, and spontaneous or latent tetany with ...
Molecular genetics OMIM In 1 of the families studied by Ahn et al. (1986), family D, Arnold et al. (1990) identified a point mutation in the signal peptide-encoding region of the PTH gene (C18R; 168450.0001).

In 2 sisters and ...