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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
10 OMIM references -
13 associated genes
26 signs/symptoms
Huntington disease
Infantile Refsum disease

HTT PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HTT
(0.63)
PEX11B



Citations in the biomedical literature:


Huntington disease
HTT
Infantile Refsum disease
PEX1 PEX10 PEX11B PEX12 PEX13 PEX14
PEX16 PEX19 PEX2 PEX26 PEX3 PEX5
PEX6



Huntington disease
Infantile Refsum disease

Synonym(s):
- Huntington chorea

Synonym(s):
- IRD

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare hepatic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: D006816
External references:
10 OMIM references -
1 MeSH reference: D052919


COMMON
SIGNS
- Hypertonia / spasticity / rigidity / stiffness
- Psychic / behavioural troubles


Huntington disease
Infantile Refsum disease

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Autosomal dominant inheritance
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- EEG anomalies
- Movement disorder
- Psychic / psychomotor regression / dementia / intellectual decline



Very frequent
- Autosomal recessive inheritance
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hepatomegaly / liver enlargement (excluding storage disease)
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Metabolic anomalies
- Mild visual loss / impaired visual acuity
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Night blindness / hemeralopia
- Retinitis pigmentosa / retinal pigmentary changes
- Short stature / dwarfism / nanism

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- Hearing loss / hypoacusia / deafness
- Hypotonia
- Nystagmus
- Sensorineural deafness / hearing loss

Occasional
- Cardiac rhythm disorder / arrhythmia
- Cardiomyopathy / hypertrophic / dilated
- Cataract / lens opacification
- Epiphyseal anomaly
- Face / facial anomalies
- Facial palsy
- Ichthyosis / ichthyosiform dermatitis
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Seizures / epilepsy / absences / spasms / status epilepticus