Details of Disease | DrugMAP

General Information of Disease (ID: DISUODDF)

Disease Name	Thiamine-responsive megaloblastic anemia syndrome
Synonyms	thiamine responsive megaloblastic anemia syndrome; megaloblastic anaemia thiamine-responsive with diabetes mellitus and sensorineural deafness; thiamine metabolism dysfunction syndrome 1 (megaloblastic Anemia, diabetes mellitus, and deafness type); thiamine-responsive Anemia syndrome; megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness; thiamine-responsive Anaemia syndrome; thiamine responsive megaloblastic anaemia syndrome; megaloblastic Anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness; thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness; thiamine-responsive anaemia syndrome; thiamine-responsive myelodysplasia; TRMA; thiamine-responsive megaloblastic anemia syndrome; Rogers syndrome; THMD1; thiamine-responsive anemia syndrome; thiamine metabolism dysfunction syndrome 1; thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type)
Definition	Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.
Disease Hierarchy	DIS4IBWA: Vitamin B12- and folate-independent constitutional megaloblastic anemia DISCPWH9: Autosomal recessive disease DIS2OFSP: Thiamine-responsive dysfunction syndrome DISUODDF: Thiamine-responsive megaloblastic anemia syndrome
Disease Identifiers	MONDO ID MONDO_0009575 MESH ID C536510 UMLS CUI C0342287 OMIM ID 249270 MedGen ID 83338 Orphanet ID 49827 SNOMED CT ID 237617006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC19A2	TT2A1DZ	Definitive	Genetic Variation	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC19A2	DTLA4Q2	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC19A2	OTH5SB0M	Definitive	Autosomal recessive	[2]
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References

1	Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine-responsive megaloblastic anemia in an Egyptian family.Mol Genet Genomic Med. 2019 Jul;7(7):e00777. doi: 10.1002/mgg3.777. Epub 2019 May 29.
2	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.