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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Severe congenital nemaline myopathy
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

ACTA1 CBL
KLHL40
KLHL41
NEB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA1
(0.63)
CBL



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
CBL



Severe congenital nemaline myopathy
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Synonym(s):
(no synonyms)

Synonym(s):
- CBL syndrome
- Noonan syndrome-like disorder with JMML

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic 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:
(no data available)

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

No signs/symptoms info available.