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Autosomal dominant limb-girdle muscular dystrophy type 1F
1 OMIM reference -
1 associated gene
25 connected diseases
No signs/symptoms info
Disease Type of connection
Primary biliary cirrhosis
Precursor T-cell acute lymphoblastic leukemia
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Anophthalmia / microphthalmia - esophageal atresia
Behavioral variant of frontotemporal dementia
Burkitt lymphoma
Colobomatous microphthalmia
Combined oxidative phosphorylation defect type 17
Congenital bilateral absence of vas deferens
Cystic fibrosis
Familial prostate cancer
Giant cell glioblastoma
Gliosarcoma
Glycogen storage disease due to aldolase A deficiency
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Isolated anophthalmia - microphthalmia
Male infertility with normal virilization due to meiosis defect
Progressive non-fluent aphasia
Semantic dementia
Septo-optic dysplasia
Spastic paraplegia - Paget disease of bone
Angelman syndrome
Synonym(s):
- LGMD1F
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous 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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TNPO3 Q9Y5L0610032
No signs/symptoms info available.