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Autosomal dominant hypocalcemia
2 OMIM references -
2 associated genes
41 connected diseases
26 signs/symptoms
Disease Type of connection
Bartter syndrome with hypocalcemia
Familial hypocalciuric hypercalcemia type 1
Familial hypocalciuric hypercalcemia type 2
Familial isolated hypoparathyroidism due to impaired PTH secretion
Neonatal severe primary hyperparathyroidism
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
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
Microcephaly-capillary malformation syndrome
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Early infantile epileptic encephalopathy
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Malignant migrating partial seizures of infancy
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Spinocerebellar ataxia type 14
Familial capillary hemangioma
Familial gestational hyperthyroidism
Familial hyperthyroidism due to mutations in TSH receptor
Hypothyroidism due to TSH receptor mutations
Thyroid hypoplasia
- AD hypocalcemia

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
CASR P41180601199
GNA11 P29992139313
Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Asthenia / fatigue / weakness
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypercalciuria
- Hypocalcemia
- Myoclonus / fasciculations
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Psychic / behavioural troubles

- Abnormal fingernails
- Acute abdominal pain / colic
- Alopecia
- Cardiac rhythm disorder / arrhythmia
- Dry / squaly skin / exfoliation
- Hyperphosphtemia
- Hypotension
- Nails anomalies
- Respiratory rhythm disorder
- Urinary / renal lithiasis / kidney stones / nephritic colic

- Cranial hypertension
- Eczema
- Heart / cardiac failure
- Irregular / in bands / reticular skin hyperpigmentation
- Obnubilation / coma / lethargia / desorientation
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets