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Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
1 OMIM reference -
1 associated gene
21 connected diseases
No signs/symptoms info
Disease Type of connection
Familial leiomyomatosis
Fumaric aciduria
AICA-ribosiduria
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal recessive Kenny-Caffey syndrome
B-cell chronic lymphocytic leukemia
Cabezas syndrome
Charcot-Marie-Tooth disease type 4G
Familial melanoma
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Large congenital melanocytic nevus
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Oculocutaneous albinism type 2
Pseudohypoaldosteronism type 2E
Sanjad-Sakati syndrome
Tay-Sachs disease, B variant, adult form
Tay-Sachs disease, B variant, infantile form
Tay-Sachs disease, B variant, juvenile form
Tay-Sachs disease, B1 variant
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
X-linked lymphoproliferative disease
Synonym(s):
- Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- 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: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
AHCY P23526180960
No signs/symptoms info available.