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Sea-blue histiocytosis
1 OMIM reference -
1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
CARASIL
1 OMIM reference -
1 associated gene
No signs/symptoms info
Sea-blue histiocytosis
CARASIL

APOE
(UniProt - OMIM)
 HTRA1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
APOE
(0.63)
HTRA1


Citations in the biomedical literature:


Sea-blue histiocytosis
APOE
CARASIL
HTRA1



Sea-blue histiocytosis
CARASIL

Synonym(s):
(no synonyms)

Synonym(s):
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- Maeda syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the circulatory system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: adult
Type of inheritance: autosomal recessive
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


CARASIL

(no data available)