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Fish-eye disease

1 OMIM reference -
1 associated gene
8 signs/symptoms

COMMON GENES: 1

Familial LCAT deficiency

1 OMIM reference -
1 associated gene
No signs/symptoms info

Fish-eye disease

Familial LCAT deficiency

LCAT

(UniProt - OMIM)

LCAT

(UniProt - OMIM)


COMMON GENES	LCAT

Citations in the biomedical literature:

Fish-eye disease		Familial LCAT deficiency
	Synonym(s): - FED - Partial LCAT deficiency		Synonym(s): - Complete LCAT deficiency - FLD - Norum disease

	Classification (Orphanet): - Inborn errors of metabolism - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Inborn errors of metabolism - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare hematologic 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: adolescence / young Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal recessive

	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
Familial LCAT deficiency
(no data available)