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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
10 OMIM references -
13 associated genes
30 signs/symptoms
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Neonatal adrenoleukodystrophy

TUBB3 PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TUBB3
(0.56)
PEX14



Citations in the biomedical literature:


Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
TUBB3
Neonatal adrenoleukodystrophy
PEX1 PEX10 PEX11B PEX12 PEX13 PEX14
PEX16 PEX19 PEX2 PEX26 PEX3 PEX5
PEX6



Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Neonatal adrenoleukodystrophy

Synonym(s):
(no synonyms)

Synonym(s):
- NALD

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
10 OMIM references -
1 MeSH reference: D018901

Neonatal adrenoleukodystrophy

Very frequent
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Broad nose / nasal bridge
- Cortico-adrenal hypoplasia / insufficiency
- Dolichocephaly / scaphocephaly
- EEG anomalies
- High forehead
- High vaulted / narrow palate
- Hypereflexia
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Metabolic anomalies
- Movement disorder
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Psychic / psychomotor regression / dementia / intellectual decline
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism
- Strabismus / squint
- Structural anomalies of the liver and the biliary tract

Frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Cataract / lens opacification
- Large fontanelle / delayed fontanelle closure
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Ptosis
- Retinitis pigmentosa / retinal pigmentary changes
- Simian crease / transverse / unique palmar crease
- Visual loss / blindness / amblyopia



Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

(no data available)