ODCs

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Autosomal dominant hypocalcemia

2 OMIM references -
2 associated genes
26 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Waardenburg-Shah syndrome

3 OMIM references -
3 associated genes
22 signs/symptoms

Autosomal dominant hypocalcemia

Waardenburg-Shah syndrome

CASR	(UniProt - OMIM)	EDN3	(UniProt - OMIM)
GNA11	(UniProt - OMIM)	EDNRB	(UniProt - OMIM)
		SOX10	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GNA11	(0.73)	EDNRB

Citations in the biomedical literature:

Autosomal dominant hypocalcemia		Waardenburg-Shah syndrome
	Synonym(s): - AD hypocalcemia		Synonym(s): - Shah-Waardenburg syndrome - WS4 - Waardenburg syndrome type 4 - Waardenburg-Hirschsprung syndrome

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare gastroenterologic disease - Rare genetic disease - Rare otorhinolaryngologic disease - Rare skin disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Acute abdominal pain / colic

Autosomal dominant hypocalcemia		Waardenburg-Shah syndrome
	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 - 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		Very frequent - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of eyes and vision - Autosomal dominant inheritance - Constipation - Decreased hair pigmentation / hypopigmentation of hair - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Eyebrows anomalies - Hearing loss / hypoacusia / deafness - Intestinal obstruction / ileus - Intestinal / colonic anomaly - Macular pigmentary anomaly / cherry-red spot - Premature greying of hair - White forelock / piebaldism Frequent - Anomalies of nose and olfaction - Broad nose / nasal bridge - High nasal bridge - Synophris / synophrys - Thin / hypoplastic ala nasi Occasional - Autosomal recessive inheritance - Retinitis pigmentosa / retinal pigmentary changes - Telecanthus / canthal dystopy