Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
21 signs/symptoms
PROTEIN INTERACTIONS: 1
8 OMIM references -
10 associated genes
No signs/symptoms info
Boomerang dysplasia
Osteogenesis imperfecta type 3

FLNB BMP1
COL1A1
COL1A2
CREB3L1
CRTAP
LEPRE1
PPIB
SERPINF1
SERPINH1
WNT1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Boomerang dysplasia
FLNB
Osteogenesis imperfecta type 3
BMP1 COL1A1 COL1A2 CREB3L1 CRTAP LEPRE1
PPIB SERPINF1 SERPINH1 WNT1



Boomerang dysplasia
Osteogenesis imperfecta type 3

Synonym(s):
(no synonyms)

Synonym(s):
- OI type 3
- Progressive deforming osteogenesis imperfecta
- Severe osteogenesis imperfecta

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C536573
External references:
8 OMIM references -
1 MeSH reference: C536044

Boomerang dysplasia

Very frequent
- Abnormal / absent ossification
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Lack / delayed ossification of spine / vertebrae
- Narrow rib cage / thorax
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Rhizomelic micromelia
- Short stature / dwarfism / nanism
- Stillbirth / neonatal death
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly

Frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus
- Hydrops fetalis
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Metacarpal anomalies / Archibald's sign
- Omphalocele / exomphalos
- Polyhydramnios
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Syndactyly of fingers / interdigital palm
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray


Osteogenesis imperfecta type 3

(no data available)