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Tay-Sachs disease, B variant, juvenile form
1 associated gene
12 connected diseases
No signs/symptoms info
Disease Type of connection
Tay-Sachs disease, B variant, adult form
Tay-Sachs disease, B variant, infantile form
Tay-Sachs disease, B1 variant
GM2-gangliosidosis, AB variant
Charcot-Marie-Tooth disease type 4G
Chronic myeloid leukemia
Hereditary cerebral cavernous malformation
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
X-linked non-syndromic intellectual deficit
Synonym(s):
- GM2-gangliosidosis, B variant, juvenile form
- Hexosaminidase A deficiency, juvenile form
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
HEXA P06865606869
No signs/symptoms info available.