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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
18 signs/symptoms
Situs ambiguus
Acromesomelic dysplasia, Grebe 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, Grebe type
GDF5



Situs ambiguus
Acromesomelic dysplasia, Grebe type

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

Synonym(s):
- Chondrodysplasia, Grebe type

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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

Acromesomelic dysplasia, Grebe type

Very frequent
- Aphalangia / hands and feet phalangeal bones absence / hypoplasia / aplasia
- Autosomal recessive inheritance
- Bowed diaphysis / diaphyses / long bones
- Carpal bones fusion / synostosis
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Metacarpal anomalies / Archibald's sign
- Restricted joint mobility / joint stiffness / ankylosis
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism
- Tarsal anomaly / fusion / synostosis

Frequent
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Postaxial polydactyly (hand)
- Thumb hypoplasia / aplasia / absence
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly

Occasional
- Death in infancy
- Stillbirth / neonatal death


Situs ambiguus

(no data available)