Cytoscape Web
Click node...


2 OMIM references -
2 associated genes
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
8 signs/symptoms
Cap myopathy
Trismus - pseudocamptodactyly

TPM2 MYH8
TPM3 TPM2


COMMON
GENES
TPM2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TPM3
(0.49)
TPM2



Citations in the biomedical literature:


Cap myopathy
TPM2 TPM3
Trismus - pseudocamptodactyly
MYH8



Cap myopathy
Trismus - pseudocamptodactyly

Synonym(s):
- Cap disease

Synonym(s):
- Distal arthrogryposis type 7
- Dutch-Kentucky syndrome
- Hecht syndrome
- Hecht-Beals syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

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

Trismus - pseudocamptodactyly

Very frequent
- Autosomal dominant inheritance
- Muscle anomalies
- Restricted joint mobility / joint stiffness / ankylosis
- Short stature / dwarfism / nanism
- Symphalangy of fingers

Occasional
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Prognathism / prognathia
- Ptosis


Cap myopathy

(no data available)