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Familial hypocalciuric hypercalcemia type 2
1 OMIM reference -
1 associated gene
18 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant hypocalcemia
Bleeding diathesis due to thromboxane synthesis deficiency
Hirschsprung disease
Waardenburg-Shah syndrome
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Early infantile epileptic encephalopathy
Malignant migrating partial seizures of infancy
Athyreosis
Familial capillary hemangioma
Familial gestational hyperthyroidism
Familial hyperthyroidism due to mutations in TSH receptor
Hypothyroidism due to TSH receptor mutations
Thyroid hypoplasia
Synonym(s):
- FHH type 2
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare respiratory disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C537146
Gene symbol UniProt reference OMIM reference
GNA11 P29992139313
No signs/symptoms info available.