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Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Tay-Sachs disease, B variant, juvenile form
1 associated gene
No signs/symptoms info
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Tay-Sachs disease, B variant, juvenile form

AHCY
(UniProt - OMIM)
 HEXA
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
AHCY
(0.63)
HEXA


Citations in the biomedical literature:


Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
AHCY
Tay-Sachs disease, B variant, juvenile form
HEXA



Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Tay-Sachs disease, B variant, juvenile form

Synonym(s):
- Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
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 (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.