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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
8 OMIM references -
9 associated genes
No signs/symptoms info
Severe congenital nemaline myopathy
Familial thoracic aortic aneurysm and aortic dissection

ACTA1 ACTA2
KLHL40 FBN1
KLHL41 MYH11
NEB MYLK
PRKG1
SMAD3
TGFB2
TGFBR1
TGFBR2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA1
(0.52)
MYLK



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Familial thoracic aortic aneurysm and aortic dissection
ACTA2 FBN1 MYH11 MYLK PRKG1 SMAD3
TGFB2 TGFBR1 TGFBR2



Severe congenital nemaline myopathy
Familial thoracic aortic aneurysm and aortic dissection

Synonym(s):
(no synonyms)

Synonym(s):
- Familial TAAD

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the circulatory system -

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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
8 OMIM references -
No MeSH references

No signs/symptoms info available.