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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
5 associated genes
No signs/symptoms info
Severe X-linked mitochondrial encephalomyopathy
Hereditary chronic pancreatitis

AIFM1 CFTR
CTRC
PRSS1
PRSS2
SPINK1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AIFM1
(0.72)
CFTR



Citations in the biomedical literature:


Severe X-linked mitochondrial encephalomyopathy
AIFM1
Hereditary chronic pancreatitis
CFTR CTRC PRSS1 PRSS2 SPINK1



Severe X-linked mitochondrial encephalomyopathy
Hereditary chronic pancreatitis

Synonym(s):
- Mitochondrial encephalomyopathy due to COXPD6
- Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6

Synonym(s):
(no synonyms)

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the digestive system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.