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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type

COL2A1 COL2A1


COMMON
GENES
COL2A1



Citations in the biomedical literature:


Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
COL2A1
Multiple epiphyseal dysplasia, Beighton type



Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type

Synonym(s):
(no synonyms)

Synonym(s):
- Multiple epiphyseal dysplasia - myopia - deafness

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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

Multiple epiphyseal dysplasia, Beighton type

Very frequent
- Absent / small fingernails / anonychia of hands
- Autosomal dominant inheritance
- Conductive deafness / hearing loss
- Epiphyseal anomaly
- Flat face
- Microstomia / little mouth
- Myopia
- Round face
- Short hand / brachydactyly

Frequent
- Cataract / lens opacification



Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

(no data available)