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Familial LCAT deficiency
1 OMIM reference -
1 associated gene
8 connected diseases
No signs/symptoms info
Disease Type of connection
Fish-eye disease
Apolipoprotein A-I deficiency
Familial renal amyloidosis due to Apolipoprotein AI variant
Primary systemic amyloidosis
Hyperlipidemia type 3
Lipoprotein glomerulopathy
Sea-blue histiocytosis
Familial renal amyloidosis due to Apolipoprotein AII variant
Synonym(s):
- Complete LCAT deficiency
- FLD
- Norum 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 -
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 -
No MeSH references
Gene symbol UniProt reference OMIM reference
LCAT P04180606967
No signs/symptoms info available.