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Fetal and neonatal alloimmune thrombocytopenia
6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Spondyloepiphyseal dysplasia congenita
1 OMIM reference -
1 associated gene
26 signs/symptoms
Fetal and neonatal alloimmune thrombocytopenia
Spondyloepiphyseal dysplasia congenita

CD109
(UniProt - OMIM)
 COL2A1
(UniProt - OMIM)
GP1BA
(UniProt - OMIM)
GP1BB
(UniProt - OMIM)
ITGA2
(UniProt - OMIM)
ITGA2B
(UniProt - OMIM)
ITGB3
(UniProt - OMIM)

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


Citations in the biomedical literature:


Fetal and neonatal alloimmune thrombocytopenia
CD109 GP1BA GP1BB ITGA2 ITGA2B ITGB3

Spondyloepiphyseal dysplasia congenita
COL2A1



Fetal and neonatal alloimmune thrombocytopenia
Spondyloepiphyseal dysplasia congenita

Synonym(s):
- NAIT
Synonym(s):
- Congenital spondyloepiphyseal dysplasia
- SEDC
- Spranger-Wiedemann disease
Classification (Orphanet):
- Rare hematologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Certain conditions originating in the perinatal period -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Spondyloepiphyseal dysplasia congenita

Very frequent
- Abnormal vertebral size / shape
- Autosomal dominant inheritance
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Epiphyseal anomaly
- Narrow rib cage / thorax
- Short limbs / micromelia / brachymelia
- Short neck
- Short rib cage / thorax
- Short stature / dwarfism / nanism

Frequent
- Broad forehead
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Flat face
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypertelorism
- Lordosis
- Osteoarthritis
- Restricted joint mobility / joint stiffness / ankylosis
- Talipes-varus / metatarsal varus

Occasional
- Cataract / lens opacification
- Glaucoma
- Hearing loss / hypoacusia / deafness
- Kyphosis
- Myopia
- Nystagmus
- Retinal detachment
- Scoliosis


Fetal and neonatal alloimmune thrombocytopenia

(no data available)