HYPOCALCEMIA, AUTOSOMAL DOMINANT 2

General Information (adopted from Orphanet):

Synonyms, Signs: HYPOC2
Number of Symptoms 9
OrphanetNr:
OMIM Id: 615361
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003401) Paresthesia 42 / 7739
2
(HPO:0002135) Basal ganglia calcification rare [HPO:skoehler] 37 / 7739
3
(HPO:0008897) Postnatal growth retardation rare [HPO:skoehler] 113 / 7739
4
(HPO:0002901) Hypocalcemia 56 / 7739
5
(HPO:0001281) Tetany 20 / 7739
6
(HPO:0003394) Muscle cramps 106 / 7739
7
(OMIM) Parathyroid hormone levels low to low-normal 1 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
(OMIM) Serum phosphorus normal or mildly elevated 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mannstadt et al. (2013) studied 2 unrelated 4-generation families segregating autosomal dominant hypocalcemia. In the first family, the male proband was diagnosed at 2 years of age with type 1 diabetes mellitus (see 222100), at which time his ...
Molecular genetics OMIM In 8 unrelated patients with hypocalcemia and low or normal serum parathyroid hormone concentrations, who were negative for mutation in the CASR gene (601199), Nesbit et al. (2013) analyzed the candidate gene GNA11 (139313) and identified heterozygosity for ...