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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
1 OMIM reference -
1 associated gene
8 signs/symptoms
Apolipoprotein A-I deficiency
Fish-eye disease

ABCA1 LCAT
APOA1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APOA1
(0.9)
LCAT



Citations in the biomedical literature:


Apolipoprotein A-I deficiency
ABCA1 APOA1
Fish-eye disease
LCAT



Apolipoprotein A-I deficiency
Fish-eye disease

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

Synonym(s):
- FED
- Partial LCAT deficiency

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: D052456
External references:
1 OMIM reference -
1 MeSH reference: C538467


COMMON
SIGNS
- Autosomal recessive inheritance
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Lymphadenopathy / polyadenopathies
- Splenomegaly


Apolipoprotein A-I deficiency
Fish-eye disease

Frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Anaemia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hepatitis / icterus / cholestasis
- Storage liver disease



Very frequent
- Corneal clouding / opacity / vascularisation

Occasional
- Angor pectoris / myocardial infarction
- Arterial atheroma / precocious atherosclerosis / arteriosclerosis
- Hepatomegaly / liver enlargement (excluding storage disease)