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Typical nemaline myopathy
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
1 associated gene
No signs/symptoms info
Typical nemaline myopathy
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

ACTA1
(UniProt - OMIM)
 ISG15
(UniProt - OMIM)
CFL2
(UniProt - OMIM)
KLHL41
(UniProt - OMIM)
NEB
(UniProt - OMIM)
TPM2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ACTA1
(0.63)
ISG15


Citations in the biomedical literature:


Typical nemaline myopathy
ACTA1 CFL2 KLHL41 NEB TPM2
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15



Typical nemaline myopathy
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- MSMD due to complete ISG15 deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.