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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
5 OMIM references -
8 associated genes
No signs/symptoms info
Autosomal dominant limb-girdle muscular dystrophy type 1F
Primary biliary cirrhosis

TNPO3 IL12A
IL12RB1
IRF5
MMEL1
POU2AF1
SPIB
TNFSF15
TNPO3


COMMON
GENES
TNPO3



Citations in the biomedical literature:


Autosomal dominant limb-girdle muscular dystrophy type 1F
TNPO3
Primary biliary cirrhosis
IL12A IL12RB1 IRF5 MMEL1 POU2AF1 SPIB
TNFSF15



Autosomal dominant limb-girdle muscular dystrophy type 1F
Primary biliary cirrhosis

Synonym(s):
- LGMD1F

Synonym(s):
- Hanot syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare hepatic disease

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial

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

No signs/symptoms info available.