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Sandhoff disease, infantile form
1 OMIM reference -
1 associated gene
8 connected diseases
No signs/symptoms info
Disease Type of connection
Sandhoff disease, adult form
Sandhoff disease, juvenile form
Charcot-Marie-Tooth disease type 4G
Combined oxidative phosphorylation defect type 4
Familial leiomyomatosis
Fumaric aciduria
Hereditary cerebral cavernous malformation
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Synonym(s):
- Hexosaminidases A and B deficiency, infantile form
- Infantile GM2 gangliosidosis 0 variant
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:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
HEXB P07686606873
No signs/symptoms info available.