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Sea-blue histiocytosis
1 OMIM reference -
1 associated gene
42 connected diseases
12 signs/symptoms
Disease Type of connection
Hyperlipidemia type 3
Lipoprotein glomerulopathy
Early-onset autosomal dominant Alzheimer disease
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Homozygous familial hypercholesterolemia
Classical progressive supranuclear palsy
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Donnai-Barrow syndrome
Congenital analbuminemia
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
14q11.2 microduplication syndrome
14q12 microdeletion syndrome
Atypical Rett syndrome
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive distal renal tubular acidosis without deafness
Baraitser-Winter syndrome
CARASIL
Craniometaphyseal dysplasia
Cystic fibrosis
Familial articular chondrocalcinosis
Familial isolated dilated cardiomyopathy
Glutaryl-CoA dehydrogenase deficiency
Familial Alzheimer-like prion disease
Fatal familial insomnia
Gerstmann-Straussler-Scheinker syndrome
Huntington disease-like 1
Inherited Creutzfeldt-Jakob disease
Dysequilibrium syndrome
Familial LCAT deficiency
Fish-eye disease
Familial apolipoprotein C-II deficiency
Familial renal amyloidosis due to Apolipoprotein AII variant
Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
APOE P02649107741
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