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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Fish-eye disease
Primary systemic amyloidosis

LCAT APOA1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Fish-eye disease
LCAT
Primary systemic amyloidosis
APOA1



Fish-eye disease
Primary systemic amyloidosis

Synonym(s):
- FED
- Partial LCAT deficiency

Synonym(s):
- Systemic AL amyloidosis
- Systemic immunoglobulinic amyloidosis

Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
- Rare systemic or rheumatologic 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: adolescence / young
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: C538467
External references:
1 OMIM reference -
No MeSH references

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


Primary systemic amyloidosis

(no data available)