ODCs

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

PROTEIN INTERACTIONS: 2

1 OMIM reference -
2 associated genes
10 signs/symptoms

Spinocerebellar ataxia type 12

Epidermolysis bullosa simplex with mottled pigmentation

PPP2R2B	(UniProt - OMIM)		KRT14	(UniProt - OMIM)
			KRT5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PPP2R2B PPP2R2B	(0.68) (0.68)	KRT14 KRT5

Citations in the biomedical literature:

Spinocerebellar ataxia type 12		Epidermolysis bullosa simplex with mottled pigmentation
	Synonym(s): - SCA12		Synonym(s): - EBS-MP

	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: C535959

Epidermolysis bullosa simplex with mottled pigmentation
	Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Autosomal dominant inheritance - Follicular / erythematous / edematous papules / milium - Irregular / patchy skin hypopigmentation - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Abnormal fingernails - Bruisability - Nails anomalies - Palmoplantar hyperkeratosis / keratoderma - Premature ageing
Spinocerebellar ataxia type 12
(no data available)