ODCs

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3 OMIM references -
4 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 2

1 OMIM reference -
1 associated gene
12 signs/symptoms

Homozygous familial hypercholesterolemia

Sea-blue histiocytosis


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LDLR APOB	(0.88) (0.49)	APOE APOE

Citations in the biomedical literature:

Homozygous familial hypercholesterolemia		Sea-blue histiocytosis
	Synonym(s): - HoFH		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare endocrine disease - Rare genetic 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

	External references: 3 OMIM references - 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
Homozygous familial hypercholesterolemia
(no data available)