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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
26 signs/symptoms
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
X-linked dominant chondrodysplasia, Chassaing-Lacombe type

TUBB3 HDAC6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TUBB3
(0.63)
HDAC6



Citations in the biomedical literature:


Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
TUBB3
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
HDAC6



Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Synonym(s):
(no synonyms)

Synonym(s):
- X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked dominant

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

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Very frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Flattened nose
- Frontal bossing / prominent forehead
- Hydrocephaly
- Low set ears / posteriorly rotated ears
- Metacarpal anomalies / Archibald's sign
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Platyspondyly
- Rhizomelic micromelia
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Short / small nose
- X-linked dominant inheritance

Frequent
- Ankle anomalies
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Death in infancy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Rib structure anomalies

Occasional
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Macrostomia / big mouth
- Micrognathia / retrognathia / micrognathism / retrognathism
- Short philtrum


Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

(no data available)