ODCs

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1 OMIM reference -
4 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 3

1 OMIM reference -
2 associated genes
10 signs/symptoms

Epidermolytic palmoplantar keratoderma

Apolipoprotein A-I deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT1 KRT16 KRT9	(0.72) (0.72) (0.72)	APOA1 APOA1 APOA1

Citations in the biomedical literature:

Epidermolytic palmoplantar keratoderma		Apolipoprotein A-I deficiency
	Synonym(s): - Diffuse erythrodermic palmoplantar keratoderma, Voerner type - Diffuse erythrodermic palmoplantar keratoderma, VÃ¶rner type - EPPK - Epidermolytic palmoplantar keratoderma of Voerner - Epidermolytic palmoplantar keratoderma of VÃ¶rner		Synonym(s): - ApoA-I deficiency - Familial apoA-I deficiency - Familial hypoalphalipoproteinemia

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare endocrine disease - Rare genetic disease

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: any age Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D052456

Epidermolytic palmoplantar keratoderma		Apolipoprotein A-I deficiency
	Very frequent - Autosomal dominant inheritance - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Palmoplantar hyperkeratosis / keratoderma - Warts / papillomas Frequent - Abnormal fingernails - Eczema - Hyperhidrosis / increased sweating		Frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Anaemia - Autosomal recessive inheritance - Hemiplegia / diplegia / hemiparesia / limb palsy - Hepatitis / icterus / cholestasis - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Lymphadenopathy / polyadenopathies - Splenomegaly - Storage liver disease