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Spinocerebellar ataxia type 12

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
4 associated genes
18 signs/symptoms

Spinocerebellar ataxia type 12

Monilethrix

PPP2R2B	(UniProt - OMIM)		DSG4	(UniProt - OMIM)
			KRT81	(UniProt - OMIM)
			KRT83	(UniProt - OMIM)
			KRT86	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PPP2R2B	(0.56)	KRT81

Citations in the biomedical literature:

Spinocerebellar ataxia type 12		Monilethrix
	Synonym(s): - SCA12		Synonym(s): - Moniliform hair syndrome

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare skin disease

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

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

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D056734

Monilethrix
	Very frequent - Alopecia - Anomalies of eyelids, eyelashes and lacrimal system - Autosomal dominant inheritance - Brittle hair / distrix / trichorrhexis - Eyebrows anomalies - Fine hair - Follicular / erythematous / edematous papules / milium - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Nails anomalies - slow growth of the hair Frequent - Anomalies of teeth and dentition Occasional - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Autosomal recessive inheritance - Cataract / lens opacification - Intellectual deficit / mental / psychomotor retardation / learning disability - Psychosis / schizophrenia / maniac disorder - Seizures / epilepsy / absences / spasms / status epilepticus
Spinocerebellar ataxia type 12
(no data available)