ODCs

Cytoscape Web

Click node...

Autosomal dominant hypocalcemia

2 OMIM references -
2 associated genes
26 signs/symptoms

PROTEIN INTERACTIONS: 1

Spastic paraplegia - Paget disease of bone

1 associated gene
No signs/symptoms info

Autosomal dominant hypocalcemia

Spastic paraplegia - Paget disease of bone

CASR	(UniProt - OMIM)		VCP	(UniProt - OMIM)
GNA11	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CASR	(0.63)	VCP

Citations in the biomedical literature:

Autosomal dominant hypocalcemia		Spastic paraplegia - Paget disease of bone
	Synonym(s): - AD hypocalcemia		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: No OMIM references No MeSH references

Autosomal dominant hypocalcemia
	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 Frequent - 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 Occasional - 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
Spastic paraplegia - Paget disease of bone
(no data available)