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1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
6 associated genes
No signs/symptoms info
Multiple epiphyseal dysplasia, Beighton type
Fetal and neonatal alloimmune thrombocytopenia

COL2A1 CD109
GP1BA
GP1BB
ITGA2
ITGA2B
ITGB3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL2A1
(0.85)
ITGA2B



Citations in the biomedical literature:


Multiple epiphyseal dysplasia, Beighton type
COL2A1
Fetal and neonatal alloimmune thrombocytopenia
CD109 GP1BA GP1BB ITGA2 ITGA2B ITGB3



Multiple epiphyseal dysplasia, Beighton type
Fetal and neonatal alloimmune thrombocytopenia

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

Synonym(s):
- NAIT

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Certain conditions originating in the perinatal period -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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



Fetal and neonatal alloimmune thrombocytopenia

(no data available)