ZFIN Human Disease: thiamine-responsive megaloblastic anemia syndrome

OBO ID: DOID:0090117

Term Name:	thiamine-responsive megaloblastic anemia syndrome		Search Ontology:
Synonyms:	Rogers syndrome thiamine metabolism dysfunction syndrome 1 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 thiamine-responsive myelodysplasia THMD1 TRMA
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. (3)
References:	GARD:9210 MESH:C536510 OMIM:249270 ORDO:498277 SNOMEDCT_US_2023_03_01:237617006 UMLS_CUI:C0342287
Ontology:	Human Disease ( DOID:0090117 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER thiamine-responsive megaloblastic anemia syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SLC19A2	slc19a2	Thiamine-responsive megaloblastic anemia syndrome	249270

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None