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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Childhood-onset nemaline myopathy
Pseudohyperaldosteronism type 2

ACTA1 NR3C2
KBTBD13
KLHL41
NEB
TPM2
TPM3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA1
(0.52)
NR3C2



Citations in the biomedical literature:


Childhood-onset nemaline myopathy
ACTA1 KBTBD13 KLHL41 NEB TPM2 TPM3

Pseudohyperaldosteronism type 2
NR3C2



Childhood-onset nemaline myopathy
Pseudohyperaldosteronism type 2

Synonym(s):
- Mild nemaline myopathy

Synonym(s):
- Early-onset hypertension with exacerbation in pregnancy
- Hypertension due to gain-of-function mutations in the mineralocorticoid receptor

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare renal 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: childhood
Average age of death: -
Type of inheritance: autosomal dominant
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.