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Osteogenesis imperfecta type 4
6 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Spondylocarpotarsal synostosis
1 OMIM reference -
1 associated gene
12 signs/symptoms
Osteogenesis imperfecta type 4
Spondylocarpotarsal synostosis

COL1A1
(UniProt - OMIM)
 FLNB
(UniProt - OMIM)
COL1A2
(UniProt - OMIM)
CRTAP
(UniProt - OMIM)
PPIB
(UniProt - OMIM)
SP7
(UniProt - OMIM)
TMEM38B
(UniProt - OMIM)
WNT1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
COL1A1
(0.63)
FLNB


Citations in the biomedical literature:


Osteogenesis imperfecta type 4
COL1A1 COL1A2 CRTAP PPIB SP7 TMEM38B
WNT1
Spondylocarpotarsal synostosis
FLNB



Osteogenesis imperfecta type 4
Spondylocarpotarsal synostosis

Synonym(s):
- OI type 4
Synonym(s):
- Synspondylism
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic 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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
6 OMIM references -
1 MeSH reference: C536045
External references:
1 OMIM reference -
No MeSH references
Spondylocarpotarsal synostosis

Very frequent
- Abnormal vertebral size / shape
- Autosomal recessive inheritance
- Carpal bones fusion / synostosis
- Lordosis
- Restricted joint mobility / joint stiffness / ankylosis
- Short rib cage / thorax
- Vertebral segmentation anomaly / hemivertebrae

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Conductive deafness / hearing loss
- Pectus excavatum
- Polycystic kidneys
- Sensorineural deafness / hearing loss


Osteogenesis imperfecta type 4

(no data available)