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Sea-blue histiocytosis
1 OMIM reference -
1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
14q11.2 microduplication syndrome
1 associated gene
No signs/symptoms info
Sea-blue histiocytosis
14q11.2 microduplication syndrome

APOE
(UniProt - OMIM)
 FOXG1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
APOE
(0.63)
FOXG1


Citations in the biomedical literature:


Sea-blue histiocytosis
APOE
14q11.2 microduplication syndrome
FOXG1



Sea-blue histiocytosis
14q11.2 microduplication syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Dup(14)(q11.2)
- Trisomy 14q11.2
Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
No 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


14q11.2 microduplication syndrome

(no data available)