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Boomerang dysplasia
1 OMIM reference -
1 associated gene
21 signs/symptoms
PROTEIN INTERACTIONS: 1
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
4 OMIM references -
4 associated genes
No signs/symptoms info
Boomerang dysplasia
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis

FLNB
(UniProt - OMIM)
 ARHGDIA
(UniProt - OMIM)
PLCE1
(UniProt - OMIM)
PTPRO
(UniProt - OMIM)
WT1
(UniProt - OMIM)

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


Citations in the biomedical literature:


Boomerang dysplasia
FLNB
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
ARHGDIA PLCE1 PTPRO WT1



Boomerang dysplasia
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the genitourinary system -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C536573
External references:
4 OMIM references -
No MeSH references
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


Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis

(no data available)