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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
13 signs/symptoms
Atelosteogenesis type I
Stickler syndrome type 3

FLNB COL11A2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNB
(0.63)
COL11A2



Citations in the biomedical literature:


Atelosteogenesis type I
FLNB
Stickler syndrome type 3
COL11A2



Atelosteogenesis type I
Stickler syndrome type 3

Synonym(s):
- AO1
- AOI
- Giant cell chondrodysplasia
- Spondylo-humero-femoral dysplasia

Synonym(s):
- Stickler syndrome, nonocular type

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic 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: before age 5
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C535396
External references:
1 OMIM reference -
1 MeSH reference: C537494

Stickler syndrome type 3

Very frequent
- Articular / joint pain / arthralgia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Flat cheek bones / malar hypoplasia
- Long philtrum
- Mid-facial hypoplasia / short / small midface
- Sensorineural deafness / hearing loss

Frequent
- Glossoptosis
- Micrognathia / retrognathia / micrognathism / retrognathism
- Osteoarthritis

Occasional
- Exostoses
- Metacarpal anomalies / Archibald's sign
- Pectus carinatum
- Pectus excavatum


Atelosteogenesis type I

(no data available)