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Autosomal dominant hypocalcemia

2 OMIM references -
2 associated genes
26 signs/symptoms

PROTEIN INTERACTIONS: 1

Congenital short bowel syndrome

2 OMIM references -
2 associated genes
8 signs/symptoms

Autosomal dominant hypocalcemia

Congenital short bowel syndrome

CASR	(UniProt - OMIM)		CLMP	(UniProt - OMIM)
GNA11	(UniProt - OMIM)		FLNA	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CASR	(0.89)	FLNA

Citations in the biomedical literature:

Autosomal dominant hypocalcemia		Congenital short bowel syndrome
	Synonym(s): - AD hypocalcemia		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare gastroenterologic disease - Rare genetic 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

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

Autosomal dominant hypocalcemia		Congenital short bowel 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 - 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		Very frequent - Short bowel Frequent - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intellectual deficit / mental / psychomotor retardation / learning disability - Intestinal / gut / bowel malrotation - Lipoatrophy - Short stature / dwarfism / nanism - Stillbirth / neonatal death Occasional - Hypospadias / epispadias / bent penis