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Familial LCAT deficiency

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

PROTEIN INTERACTIONS: 1

Sea-blue histiocytosis

1 OMIM reference -
1 associated gene
12 signs/symptoms

Familial LCAT deficiency

Sea-blue histiocytosis

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Familial LCAT deficiency		Sea-blue histiocytosis
	Synonym(s): - Complete LCAT deficiency - FLD - Norum disease		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

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

Sea-blue histiocytosis
	Very frequent - Blepharitis / eyelid inflammation - Cutaneous edema - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Hepatomegaly / liver enlargement (excluding storage disease) - Mediastinal / hilar adenopathies - Purpura / petichiae - Splenomegaly - Subcutaneous nodules / lipomas / tumefaction / swelling - Thrombocytopenia / thrombopenia Frequent - Lung / pulmonary infiltrates Occasional - Irregular / in bands / reticular skin hyperpigmentation - Retinopathy
Familial LCAT deficiency
(no data available)