Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
13 signs/symptoms
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Langer mesomelic dysplasia
12p12.1 microdeletion syndrome

SHOX SOX5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SHOX
(0.72)
SOX5



Citations in the biomedical literature:


Langer mesomelic dysplasia
SHOX
12p12.1 microdeletion syndrome
SOX5



Langer mesomelic dysplasia
12p12.1 microdeletion syndrome

Synonym(s):
- Mesomelic dwarfism, Langer type

Synonym(s):
- Del(12)(p12.1)
- Monosomy 12p12.1

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- 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:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C537267
External references:
No OMIM references
No MeSH references

Langer mesomelic dysplasia

Very frequent
- Bowed diaphysis / diaphyses / long bones
- Epiphyseal anomaly
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- High vaulted / narrow palate
- Madelung's deformity
- Mesomelic micromelia
- Rhizomelic micromelia
- Short stature / dwarfism / nanism
- Ulnar deviation of fingers
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
- Wrist / carpal anomalies

Occasional
- Hypoplastic mandibula / partial absence of the mandibula


12p12.1 microdeletion syndrome

(no data available)