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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
5 associated genes
10 signs/symptoms
Severe congenital nemaline myopathy
Digitotalar dysmorphism

ACTA1 MYBPC1
KLHL40 MYH3
KLHL41 TNNI2
NEB TNNT3
TPM2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA1
(0.56)
TPM2



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Digitotalar dysmorphism
MYBPC1 MYH3 TNNI2 TNNT3 TPM2



Severe congenital nemaline myopathy
Digitotalar dysmorphism

Synonym(s):
(no synonyms)

Synonym(s):
- DA1
- DA1A
- Distal arthrogryposis type 1

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: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
3 OMIM references -
No MeSH references

Digitotalar dysmorphism

Very frequent
- Autosomal dominant inheritance
- Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large
- Clinodactyly of fingers 1,2,3,4 / overlapping fingers

Frequent
- Camptodactyly of fingers
- Restricted joint mobility / joint stiffness / ankylosis
- Talipes-varus / metatarsal varus
- Ulnar deviation of fingers

Occasional
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Microstomia / little mouth
- Pes talus


Severe congenital nemaline myopathy

(no data available)