Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
8 signs/symptoms
Sea-blue histiocytosis
Fish-eye disease

APOE LCAT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APOE
(0.52)
LCAT



Citations in the biomedical literature:


Sea-blue histiocytosis
APOE
Fish-eye disease
LCAT



Sea-blue histiocytosis
Fish-eye disease

Synonym(s):
(no synonyms)

Synonym(s):
- FED
- Partial LCAT deficiency

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538467


COMMON
SIGNS
- Hepatomegaly / liver enlargement (excluding storage disease)
- Splenomegaly


Sea-blue histiocytosis
Fish-eye disease

Very frequent
- Blepharitis / eyelid inflammation
- Cutaneous edema
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Mediastinal / hilar adenopathies
- Purpura / petichiae
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Thrombocytopenia / thrombopenia

Frequent
- Lung / pulmonary infiltrates

Occasional
- Irregular / in bands / reticular skin hyperpigmentation
- Retinopathy


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

Occasional
- Angor pectoris / myocardial infarction
- Arterial atheroma / precocious atherosclerosis / arteriosclerosis
- Lymphadenopathy / polyadenopathies