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1 OMIM reference -
1 associated gene
21 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
1 OMIM reference -
18 associated genes
26 signs/symptoms
Boomerang dysplasia
Bardet-Biedl syndrome

FLNB ARL6
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
CEP290
LZTFL1
MKKS
MKS1
SDCCAG8
TRIM32
TTC8
WDPCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNB
(0.63)
BBS2



Citations in the biomedical literature:


Boomerang dysplasia
FLNB
Bardet-Biedl syndrome
ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
BBS4 BBS5 BBS7 BBS9 CEP290 LZTFL1
MKKS MKS1 SDCCAG8 TRIM32 TTC8 WDPCP



Boomerang dysplasia
Bardet-Biedl syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- BBS

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare renal 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: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C536573
External references:
1 OMIM reference -
1 MeSH reference: D020788


COMMON
SIGNS
- Short stature / dwarfism / nanism
- Syndactyly of fingers / interdigital palm
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Boomerang dysplasia
Bardet-Biedl syndrome

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
- 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

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


Very frequent
- Abnormal ERG / electroretinogram / electroretinography
- Autosomal recessive inheritance
- Generalized obesity
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Multicystic kidney / renal dysplasia
- Postaxial polydactyly (hand)
- Retinitis pigmentosa / retinal pigmentary changes

Frequent
- Abnormal / polycystic ovaries
- Chronic arterial hypertension
- Late puberty / hypogonadism / hypogenitalism
- Micropenis / small penis / agenesis
- Nystagmus

Occasional
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Flared eyebrows
- Hearing loss / hypoacusia / deafness
- Hepatocellular liver disease / hepatic failure
- High nasal bridge
- Hirsutism / hypertrichosis / Increased body hair
- Low set ears / posteriorly rotated ears
- Nephrotic syndrome
- Short neck
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Structural anomalies of the liver and the biliary tract