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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
No signs/symptoms info
Apolipoprotein A-I deficiency
Hypohidrotic ectodermal dysplasia with immunodeficiency

ABCA1 IKBKG
APOA1 NFKBIA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ABCA1
(0.63)
IKBKG



Citations in the biomedical literature:


Apolipoprotein A-I deficiency
ABCA1 APOA1
Hypohidrotic ectodermal dysplasia with immunodeficiency
IKBKG NFKBIA



Apolipoprotein A-I deficiency
Hypohidrotic ectodermal dysplasia with immunodeficiency

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

Synonym(s):
- Anhidrotic ectodermal dysplasia with immunodeficiency
- EDA-ID
- HED-ID

Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal dominant

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

Apolipoprotein A-I deficiency

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



Hypohidrotic ectodermal dysplasia with immunodeficiency

(no data available)