ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
22 signs/symptoms

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

ADULT syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SACS	(0.72)	TP63

Citations in the biomedical literature:

Autosomal recessive spastic ataxia of Charlevoix-Saguenay		ADULT syndrome
	Synonym(s): - ARSACS		Synonym(s): - Acro-dermato-ungual-lacrimal-tooth syndrome - Pigment anomaly - ectrodactyly - hypodontia

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare odontologic disease - Rare skin disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

	External references: 1 OMIM reference - 1 MeSH reference: C536787		External references: 1 OMIM reference - 1 MeSH reference: C538052

ADULT syndrome
	Very frequent - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of teeth and dentition - Chronic skin infection / ulcerations / ulcers / cancrum - Dry / squaly skin / exfoliation - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Excessive freckling - Fine hair - Nails anomalies - Oligodactyly / ectrodactyly of toes - Pigmented naevi / naevus pigmentosus / lentigo - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Thin skin Frequent - Alopecia - Breast tissue / mammary gland absence / aplasia - Hypoplastic / absent nipples - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Tooth shape anomaly Occasional - Broad nose / nasal bridge - Face / facial anomalies - High nasal bridge
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
(no data available)