Cytoscape Web
Click node...


6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
18 signs/symptoms
Situs ambiguus
Acromesomelic dysplasia, Hunter-Thomson type

ACVR2B GDF5
CCDC11
CFC1
LEFTY2
NODAL
ZIC3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACVR2B
(0.73)
GDF5



Citations in the biomedical literature:


Situs ambiguus
ACVR2B CCDC11 CFC1 LEFTY2 NODAL ZIC3

Acromesomelic dysplasia, Hunter-Thomson type
GDF5



Situs ambiguus
Acromesomelic dysplasia, Hunter-Thomson type

Synonym(s):
- Incomplete situs inversus
- Partial situs inversus
- Situs ambiguous

Synonym(s):
- Acromesomelic dwarfism

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare surgical cardiac 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:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Acromesomelic dysplasia, Hunter-Thomson type

Very frequent
- Ankle anomalies
- Autosomal recessive inheritance
- Elbow dislocation
- Irregular length / shape of fingers
- Mesomelic micromelia
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Simian crease / transverse / unique palmar crease
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tarsal anomaly / fusion / synostosis
- Thumb hypoplasia / aplasia / absence

Frequent
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Patella dislocation
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Restricted joint mobility / joint stiffness / ankylosis
- Scoliosis
- Wrist / carpal anomalies



Situs ambiguus

(no data available)