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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
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Infantile Refsum disease

IDH1 PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IDH1
(0.49)
PEX5



Citations in the biomedical literature:


Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
IDH1
Infantile Refsum disease
PEX1 PEX10 PEX11B PEX12 PEX13 PEX14
PEX16 PEX19 PEX2 PEX26 PEX3 PEX5
PEX6



Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Infantile Refsum disease

Synonym(s):
(no synonyms)

Synonym(s):
- IRD

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
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


Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

(no data available)