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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
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Accession:DOID:0111039 term browser browse the term
Definition:A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. (DO)
Synonyms:exact_synonym: hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency;   hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency;   psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
 primary_id: MIM:613752
 xref: GARD:13177;   ORDO:88618


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hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actl10 actin-like 10 ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ClinVar PMID:15024124 PMID:20852937 PMID:28492532 NCBI chr 3:143,057,061...143,058,561
Ensembl chr 3:143,057,402...143,058,442 		JBrowse link
G Ahcy adenosylhomocysteinase ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase OMIM
ClinVar		 PMID:9536098 PMID:15024124 PMID:16435181 PMID:16736098 PMID:16872278 More... NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Asip agouti signaling protein ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ClinVar PMID:15024124 PMID:20852937 PMID:28492532 NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171 		JBrowse link
G Bpifa1 BPI fold containing family A, member 1 ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ClinVar PMID:15024124 PMID:20852937 PMID:28492532 NCBI chr 3:142,627,810...142,633,553
Ensembl chr 3:142,627,810...142,633,552 		JBrowse link
G Bpifa2 BPI fold containing family A, member 2 ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ClinVar PMID:15024124 PMID:20852937 PMID:28492532 NCBI chr 3:142,493,379...142,501,343
Ensembl chr 3:142,493,379...142,501,337 		JBrowse link
G Bpifa3 BPI fold containing family A, member 3 ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ClinVar PMID:15024124 PMID:20852937 PMID:28492532 NCBI chr 3:142,609,748...142,619,703
Ensembl chr 3:142,609,776...142,619,705 		JBrowse link
G Bpifb1 BPI fold containing family B, member 1 ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ClinVar PMID:15024124 PMID:20852937 PMID:28492532 NCBI chr 3:142,672,995...142,706,258
Ensembl chr 3:142,672,995...142,706,256 		JBrowse link
G Bpifb2 BPI fold containing family B, member 2 ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ClinVar PMID:15024124 PMID:20852937 PMID:28492532 NCBI chr 3:142,356,990...142,377,053
Ensembl chr 3:142,358,051...142,377,044 		JBrowse link
G Bpifb3 BPI fold containing family B, member 3 ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ClinVar PMID:15024124 PMID:20852937 PMID:28492532 NCBI chr 3:142,401,068...142,415,684 JBrowse link
G Bpifb4 BPI fold containing family B, member 4 ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ClinVar PMID:15024124 PMID:20852937 PMID:28492532 NCBI chr 3:142,423,571...142,448,044
Ensembl chr 3:142,400,976...142,448,044 		JBrowse link
G Bpifb6 BPI fold containing family B, member 6 ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ClinVar PMID:15024124 PMID:20852937 PMID:28492532 NCBI chr 3:142,381,478...142,395,304
Ensembl chr 3:142,381,374...142,395,308 		JBrowse link
G C3h20orf144 similar to human chromosome 20 open reading frame 144 ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ClinVar PMID:15024124 PMID:20852937 PMID:28492532 NCBI chr 3:143,053,971...143,055,327
Ensembl chr 3:143,054,001...143,055,323 		JBrowse link
G Cbfa2t2 CBFA2/RUNX1 partner transcriptional co-repressor 2 ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ClinVar PMID:15024124 PMID:20852937 PMID:28492532 NCBI chr 3:142,936,945...143,043,205
Ensembl chr 3:142,936,985...143,043,197 		JBrowse link
G Cdk5rap1 CDK5 regulatory subunit associated protein 1 ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ClinVar PMID:15024124 PMID:20852937 PMID:28492532 NCBI chr 3:142,838,081...142,872,669
Ensembl chr 3:142,708,028...142,872,677 		JBrowse link
G Chmp4b charged multivesicular body protein 4B ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ClinVar PMID:15024124 PMID:20852937 PMID:28492532 NCBI chr 3:143,170,859...143,211,376
Ensembl chr 3:143,170,902...143,210,844 		JBrowse link
G E2f1 E2F transcription factor 1 ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ClinVar PMID:15024124 PMID:20852937 PMID:28492532 NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361 		JBrowse link
G Eif2s2 eukaryotic translation initiation factor 2 subunit beta ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ClinVar PMID:15024124 PMID:20852937 PMID:28492532 NCBI chr 3:143,374,652...143,395,460
Ensembl chr 3:143,373,686...143,395,432 		JBrowse link
G Itch itchy E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ClinVar PMID:15024124 PMID:20852937 PMID:28492532 NCBI chr 3:143,642,348...143,733,745
Ensembl chr 3:143,645,637...143,733,543 		JBrowse link
G Pxmp4 peroxisomal membrane protein 4 ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ClinVar PMID:15024124 PMID:20852937 PMID:28492532 NCBI chr 3:143,093,371...143,110,620
Ensembl chr 3:143,093,018...143,110,651 		JBrowse link
G Raly RALY heterogeneous nuclear ribonucleoprotein ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ClinVar PMID:15024124 PMID:20852937 PMID:28492532 NCBI chr 3:143,306,039...143,370,542
Ensembl chr 3:143,306,300...143,370,539 		JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ClinVar PMID:15024124 PMID:20852937 PMID:28492532 NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709 		JBrowse link
G Sun5 Sad1 and UNC84 domain containing 5 ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ClinVar PMID:15024124 PMID:20852937 PMID:28492532 NCBI chr 3:142,334,931...142,355,349
Ensembl chr 3:142,334,928...142,355,330 		JBrowse link
G Zfp341 zinc finger protein 341 ISO ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ClinVar PMID:15024124 PMID:20852937 PMID:28492532 NCBI chr 3:143,122,699...143,156,250
Ensembl chr 3:143,119,093...143,156,249 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Nutritional and Metabolic Diseases 8543
      disease of metabolism 8543
        inherited metabolic disorder 6621
          amino acid metabolic disorder 1592
            hypermethioninemia 30
              hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 23
Path 2
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13710
        genetic disease 13375
          inherited metabolic disorder 6621
            amino acid metabolic disorder 1592
              hypermethioninemia 30
                hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 23
paths to the root