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1 OMIM reference -
1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 2
3 OMIM references -
4 associated genes
No signs/symptoms info
Sea-blue histiocytosis
Homozygous familial hypercholesterolemia

APOE APOB
LDLR
LDLRAP1
PCSK9


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Sea-blue histiocytosis
APOE
Homozygous familial hypercholesterolemia
APOB LDLR LDLRAP1 PCSK9



Sea-blue histiocytosis
Homozygous familial hypercholesterolemia

Synonym(s):
(no synonyms)

Synonym(s):
- HoFH

Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic 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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive

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