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Adult-onset proximal spinal muscular atrophy, autosomal dominant
1 OMIM reference -
1 associated gene
24 connected diseases
No signs/symptoms info
Disease Type of connection
Amyotrophic lateral sclerosis
Cataract - intellectual deficit - hypogonadism
Micro syndrome
Cystic fibrosis
Autosomal dominant spastic ataxia 1
Chuvash erythrocytosis
Von Hippel-Lindau disease
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
DDOST-CDG
Dedifferentiated liposarcoma
Distal myopathy with posterior leg and anterior hand involvement
Estrogen resistance syndrome
Hereditary combined deficiency of vitamin K-dependent clotting factors
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Muscle filaminopathy
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Well-differentiated liposarcoma
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
Familial isolated dilated cardiomyopathy
Neuralgic amyotrophy
Succinyl-CoA:3-ketoacid CoA transferase deficiency
Synonym(s):
- Finkel disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
VAPB O95292605704
No signs/symptoms info available.