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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 3
1 OMIM reference -
4 associated genes
8 signs/symptoms
Apolipoprotein A-I deficiency
Epidermolytic palmoplantar keratoderma

ABCA1 KRT1
APOA1 KRT16
KRT6C
KRT9


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Apolipoprotein A-I deficiency
ABCA1 APOA1
Epidermolytic palmoplantar keratoderma
KRT1 KRT16 KRT6C KRT9



Apolipoprotein A-I deficiency
Epidermolytic palmoplantar keratoderma

Synonym(s):
- ApoA-I deficiency
- Familial apoA-I deficiency
- Familial hypoalphalipoproteinemia

Synonym(s):
- Diffuse erythrodermic palmoplantar keratoderma, Voerner type
- Diffuse erythrodermic palmoplantar keratoderma, Vörner type
- EPPK
- Epidermolytic palmoplantar keratoderma of Voerner
- Epidermolytic palmoplantar keratoderma of Vörner

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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: any age
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

Apolipoprotein A-I deficiency
Epidermolytic palmoplantar keratoderma

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



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