AHCY, adenosylhomocysteinase, 191

N. diseases: 107; N. variants: 37
Disease: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4510276
Disease: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 		0.300 Biomarker phenotype CLINGEN Non-Immune Hydrops, Hypotonia, Encephalopathy, and Liver Failure with Novel Compound Heterozygous AHCY Mutations. 30121674 2018
CUI: C4510276
Disease: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 		0.300 Biomarker phenotype CLINGEN Clinical exome sequencing: results from 2819 samples reflecting 1000 families. 27848944 2017
CUI: C4510276
Disease: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 		0.300 Biomarker phenotype CLINGEN High-throughput discovery of novel developmental phenotypes. 27626380 2016
CUI: C4510276
Disease: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 		0.300 Biomarker phenotype CLINGEN Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency. 26095522 2016
CUI: C4510276
Disease: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 		0.300 Biomarker phenotype CLINGEN Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency. 26527160 2015
CUI: C4510276
Disease: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 		0.300 Biomarker phenotype CLINGEN Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency. 22959829 2012
CUI: C4510276
Disease: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 		0.300 Biomarker phenotype CLINGEN S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes. 20852937 2010
CUI: C4510276
Disease: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 		0.300 Biomarker phenotype CLINGEN S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man. 16736098 2006
CUI: C4510276
Disease: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 		0.300 Biomarker phenotype CLINGEN S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. 15024124 2004
CUI: C4510276
Disease: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 		0.300 Biomarker phenotype CLINGEN The enzymatic synthesis of S-adenosyl-L-homocysteine from adenosine and homocysteine. 13641268 1959