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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Familial renal amyloidosis due to Apolipoprotein AII variant
Fish-eye disease

APOA2 LCAT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APOA2
(0.49)
LCAT



Citations in the biomedical literature:


Familial renal amyloidosis due to Apolipoprotein AII variant
APOA2
Fish-eye disease
LCAT



Familial renal amyloidosis due to Apolipoprotein AII variant
Fish-eye disease

Synonym(s):
- Apolipoprotein AII amyloidosis
- Familial amyloid nephropathy due to apolipoprotein AII variant
- Hereditary amyloid nephropathy due to Apolipoprotein AII variant
- Hereditary renal amyloidosis due to apolipoprotein AII variant

Synonym(s):
- FED
- Partial LCAT deficiency

Classification (Orphanet):
- Rare genetic disease
- Rare renal 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:
(no data available)
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:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538467

Fish-eye disease

Very frequent
- Autosomal recessive inheritance
- Corneal clouding / opacity / vascularisation
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia

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


Familial renal amyloidosis due to Apolipoprotein AII variant

(no data available)