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4 OMIM references -
4 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Dysequilibrium syndrome
Hyperlipidemia type 3

ATP8A2 APOE
CA8
VLDLR
WDR81


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Dysequilibrium syndrome
ATP8A2 CA8 VLDLR WDR81
Hyperlipidemia type 3
APOE



Dysequilibrium syndrome
Hyperlipidemia type 3

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

Synonym(s):
- Broad-betalipoproteinemia
- Dyslipidemia type 3
- Familial dysbetalipoproteinemia
- Familial hyperlipoproteinemia type 3
- HLP type 3
- Hyperlipoproteinemia type 3
- Remnant disease

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: multigenic/multifactorial

External references:
4 OMIM references -
1 MeSH reference: C535731
External references:
No OMIM references
1 MeSH reference: D006952

Dysequilibrium syndrome

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


Hyperlipidemia type 3

(no data available)