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1 OMIM reference -
1 associated gene
11 signs/symptoms
PROTEIN INTERACTIONS: 1
6 associated genes
No signs/symptoms info
Spondylometaphyseal dysplasia, Schmidt 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:


Spondylometaphyseal dysplasia, Schmidt type
COL2A1
Fetal and neonatal alloimmune thrombocytopenia
CD109 GP1BA GP1BB ITGA2 ITGA2B ITGB3



Spondylometaphyseal dysplasia, Schmidt type
Fetal and neonatal alloimmune thrombocytopenia

Synonym(s):
- Spondylometaphyseal dysplasia with severe genu valgum
- Spondylometaphyseal dysplasia, Algerian type

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

Spondylometaphyseal dysplasia, Schmidt type

Very frequent
- Autosomal dominant inheritance
- Genu valgum
- Kyphosis
- Metaphyseal anomaly
- Myopia
- Scoliosis
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Frequent
- Abnormal vertebral size / shape
- Joint / articular deformation
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality



Fetal and neonatal alloimmune thrombocytopenia

(no data available)