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Otopalatodigital syndrome type 1

1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1

Autosomal dominant hypocalcemia

2 OMIM references -
2 associated genes
26 signs/symptoms

Otopalatodigital syndrome type 1

Autosomal dominant hypocalcemia

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


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

Citations in the biomedical literature:

Otopalatodigital syndrome type 1		Autosomal dominant hypocalcemia
	Synonym(s): (no synonyms)		Synonym(s): - AD hypocalcemia

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

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

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: x-linked dominant		Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references

Otopalatodigital syndrome type 1		Autosomal dominant hypocalcemia
	Very frequent - Anodontia / oligodontia / hypodontia - Broad nose / nasal bridge - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hearing loss / hypoacusia / deafness - Hypertelorism - Prominent supraorbital ridge - Restricted joint mobility / joint stiffness / ankylosis - Short big toe - Wide space between 1st-2nd toes - X-linked recessive inheritance Frequent - Bowed diaphysis / diaphyses / long bones - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Elbow dislocation - Frontal sinus agenesis / anomaly - Metacarpal anomalies / Archibald's sign - Osteosclerosis / osteopetrosis / bone condensation - Proximally set thumb - Short hand / brachydactyly - Terminal / third phalangeal bone of fingers hypoplasia - Thumb hypoplasia / aplasia / absence Occasional - Anomalies of spine, vertebrae and pelvis - Carpal bones fusion / synostosis - Tarsal anomaly / fusion / synostosis		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