Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:thiamine-responsive megaloblastic anemia syndrome
go back to main search page
Accession:DOID:0090117 term browser browse the term
Definition:A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24. (DO)
Synonyms:exact_synonym: Abboud syndrome;   Rogers syndrome;   THMD1;   TRMA;   thiamine metabolism dysfunction syndrome 1;   thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type);   thiamine responsive myelodysplasia;   thiamine-responsive anaemia syndrome;   thiamine-responsive anemia syndrome;   thiamine-responsive megaloblastic anaemia syndrome;   thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness;   thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
 primary_id: MESH:C536510
 alt_id: OMIM:249270
 xref: GARD:9210;   ORDO:498277
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
thiamine-responsive megaloblastic anemia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc19a2 solute carrier family 19 member 2 ISO ClinVar Annotator: match by OMIM:249270
ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 1 (MEGALOBLASTIC ANEMIA, DIABETES MELLITUS, AND DEAFNESS TYPE)
ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
OMIM
ClinVar
PMID:9399900, PMID:10391221, PMID:10391222, PMID:10391223, PMID:10978358, PMID:12065289, PMID:12435857, PMID:14994241, PMID:17132746, PMID:17463047, PMID:18414213, PMID:19643445, PMID:24355766, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr13:82,552,586...82,566,586
Ensembl chr13:82,552,550...82,566,586
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      thiamine-responsive megaloblastic anemia syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        acquired metabolic disease 2792
          nutrition disease 915
            Malnutrition 196
              nutritional deficiency disease 188
                Avitaminosis 108
                  Vitamin B Deficiency 68
                    thiamine deficiency disease 4
                      thiamine-responsive megaloblastic anemia syndrome 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.