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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
27 signs/symptoms
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Opsismodysplasia

TUBB3 INPPL1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TUBB3
(0.63)
INPPL1



Citations in the biomedical literature:


Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
TUBB3
Opsismodysplasia
INPPL1



Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Opsismodysplasia

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537122

Opsismodysplasia

Very frequent
- Abnormal vertebral size / shape
- Autosomal recessive inheritance
- Delayed bone age
- Depressed nasal bridge
- Epiphyseal anomaly
- Frontal bossing / prominent forehead
- Lack / delayed ossification of spine / vertebrae
- Large fontanelle / delayed fontanelle closure
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Metaphyseal anomaly
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rhizomelic micromelia
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Short / small nose
- Tapered fingers

Frequent
- Brachycephaly / flat occiput
- Hypotonia
- Repeat respiratory infections

Occasional
- Blue sclerae
- Broad / bifid thumb
- Hepatomegaly / liver enlargement (excluding storage disease)
- Narrow rib cage / thorax
- Pectus excavatum
- Restricted joint mobility / joint stiffness / ankylosis
- Splenomegaly


Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

(no data available)