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GM1 gangliosidosis type 2
1 OMIM reference -
1 associated gene
15 connected diseases
No signs/symptoms info
Disease Type of connection
GM1 gangliosidosis type 1
GM1 gangliosidosis type 3
Mucopolysaccharidosis type 4B
Congenital sialidosis type 2
Juvenile sialidosis type 2
Sialidosis type 1
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Berardinelli-Seip congenital lipodystrophy
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Galactosialidosis
Synonym(s):
- Juvenile GM1 gangliosidosis
- Late-infantile GM1 gangliosidosis
Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
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 recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GLB1 P16278611458
No signs/symptoms info available.