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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
Encephalopathy due to hydroxykynureninuria

ACTA1 KYNU
KBTBD13
KLHL41
NEB
TPM2
TPM3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TPM3
(0.49)
KYNU



Citations in the biomedical literature:


Childhood-onset nemaline myopathy
ACTA1 KBTBD13 KLHL41 NEB TPM2 TPM3

Encephalopathy due to hydroxykynureninuria
KYNU



Childhood-onset nemaline myopathy
Encephalopathy due to hydroxykynureninuria

Synonym(s):
- Mild nemaline myopathy

Synonym(s):
- Kynureninase deficiency
- Xanthurenic aciduria

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.