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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
10 OMIM references -
13 associated genes
26 signs/symptoms
Hypomyelination with atrophy of basal ganglia and cerebellum
Infantile Refsum disease

TUBB4A PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TUBB4A
(0.56)
PEX14



Citations in the biomedical literature:


Hypomyelination with atrophy of basal ganglia and cerebellum
TUBB4A
Infantile Refsum disease
PEX1 PEX10 PEX11B PEX12 PEX13 PEX14
PEX16 PEX19 PEX2 PEX26 PEX3 PEX5
PEX6



Hypomyelination with atrophy of basal ganglia and cerebellum
Infantile Refsum disease

Synonym(s):
- H-ABC

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
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 -
No MeSH references
External references:
10 OMIM references -
1 MeSH reference: D052919

Infantile Refsum disease

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
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Nystagmus
- Psychic / behavioural troubles
- 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


Hypomyelination with atrophy of basal ganglia and cerebellum

(no data available)