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3 OMIM references -
3 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 1
12 associated genes
No signs/symptoms info
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Gliosarcoma

COL9A1 EGFR
COL9A2 FGFR1
COL9A3 FGFR3
IDH1
LZTR1
MGMT
NFKBIA
PPARG
SEPT14
TACC1
TACC3
TP53


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL9A3
(0.72)
EGFR



Citations in the biomedical literature:


Multiple epiphyseal dysplasia due to collagen 9 anomaly
COL9A1 COL9A2 COL9A3
Gliosarcoma
EGFR FGFR1 FGFR3 IDH1 LZTR1 MGMT
NFKBIA PPARG SEPT14 TACC1 TACC3 TP53



Multiple epiphyseal dysplasia due to collagen 9 anomaly
Gliosarcoma

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

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

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic

External references:
3 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

Multiple epiphyseal dysplasia due to collagen 9 anomaly

Very frequent
- Autosomal dominant inheritance
- Epiphyseal anomaly
- Osteoarthritis

Frequent
- Abnormal gait
- Articular / joint pain / arthralgia
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Joint / articular deformation
- Restricted joint mobility / joint stiffness / ankylosis
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Occasional
- Genu valgum
- Genu varum


Gliosarcoma

(no data available)