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1 OMIM reference -
1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
4 OMIM references -
4 associated genes
14 signs/symptoms
Sea-blue histiocytosis
Dysequilibrium syndrome

APOE ATP8A2
CA8
VLDLR
WDR81


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APOE
(0.52)
VLDLR



Citations in the biomedical literature:


Sea-blue histiocytosis
APOE
Dysequilibrium syndrome
ATP8A2 CA8 VLDLR WDR81



Sea-blue histiocytosis
Dysequilibrium syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- CAMRQ syndrome
- Cerebellar ataxia - intellectual deficit - dysequilibrium syndrome
- Non-progressive cerebellar ataxia - intellectual deficit

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 nervous system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
4 OMIM references -
1 MeSH reference: C535731

Sea-blue histiocytosis
Dysequilibrium syndrome

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


Very frequent
- Abnormal gait
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Hypereflexia
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability

Frequent
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Movement disorder
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism
- Strabismus / squint

Occasional
- Anomalies of eyes and vision
- Cataract / lens opacification