TRMA
MCID: THM002
MIFTS: 46

Thiamine-Responsive Megaloblastic Anemia Syndrome (TRMA) malady

Genetic diseases, Rare diseases, Ear diseases, Endocrine diseases, Fetal diseases, Blood diseases categories

Summaries for Thiamine-Responsive Megaloblastic Anemia Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 48OMIM, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 Thiamine-responsive megaloblastic anemia syndrome is a rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). The symptoms of this blood disorder may include decreased appetite, lack of energy, headaches, pale skin, diarrhea, and tingling or numbness in the hands and feet. Individuals with thiamine-responsive megaloblastic anemia syndrome begin to show symptoms of megaloblastic anemia between infancy and adolescence. This syndrome is called "thiamine-responsive" because the anemia can be treated with high doses of vitamin B1 (thiamine).

MalaCards: Thiamine-Responsive Megaloblastic Anemia Syndrome, also known as rogers syndrome, is related to megaloblastic anemia and diabetes mellitus, and has symptoms including short stature/dwarfism/nanism, transient cerebral ischemia/stroke and heart/cardiac failure. An important gene associated with Thiamine-Responsive Megaloblastic Anemia Syndrome is SLC19A2 (solute carrier family 19 (thiamine transporter), member 2), and among its related pathways are Disease and Defective BTD causes biotidinase deficiency. The compounds folic acid and methotrexate have been mentioned in the context of this disorder. Affiliated tissues include heart, and related mouse phenotypes are endocrine/exocrine gland and digestive/alimentary.

NIH Rare Diseases:44 Thiamine-responsive megaloblastic anemia syndrome is a very rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. affected individuals begin to show symptoms of this condition between infancy and adolescence. this syndrome is called "thiamine-responsive" because the anemia can be treated with high doses of vitamin b1 (thiamine). this condition is caused by mutations in the slc19a2 gene and is inherited in an autosomal recessive fashion. last updated: 11/28/2011

Description from OMIM:48 249270

GeneReviews summary for trma

Aliases & Classifications for Thiamine-Responsive Megaloblastic Anemia Syndrome

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20GeneReviews, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 44NIH Rare Diseases, 21GeneTests, 23GTR, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
thiamine-responsive megaloblastic anemia syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Any age


Aliases & Descriptions:

thiamine-responsive megaloblastic anemia syndrome 20 22 48 46 50
rogers syndrome 20 44 22 50
trma 20 44 22 50
thiamine-responsive myelodysplasia 20 44 22
megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness 44 23
thiamine responsive megaloblastic anemia syndrome 44 21
thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness 50
thiamine-responsive anemia syndrome 44


External Ids:

OMIM48 249270
MESH via Orphanet37 C536510
ICD10 via Orphanet27 D53.1
SNOMED-CT via Orphanet60 237617006
UMLS via Orphanet64 C0342287

Related Diseases for Thiamine-Responsive Megaloblastic Anemia Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Thiamine-Responsive Megaloblastic Anemia Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1megaloblastic anemia31.6SLC19A2
2diabetes mellitus10.7
3cone-rod dystrophy10.4
4patent ductus arteriosus10.4
5ebstein anomaly10.4
6maternally inherited diabetes and deafness10.1
7biotin-responsive basal ganglia disease9.9SLC19A2, SLC19A1

Graphical network of diseases related to Thiamine-Responsive Megaloblastic Anemia Syndrome:



Diseases related to thiamine-responsive megaloblastic anemia syndrome

Symptoms for Thiamine-Responsive Megaloblastic Anemia Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

249270

Clinical features from OMIM:

249270

Symptoms:

50 (show all 14)
  • short stature/dwarfism/nanism
  • transient cerebral ischemia/stroke
  • heart/cardiac failure
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • cardiac rhythm disorder/arrhythmia
  • congenital cardiac anomaly/malformation/cardiopathy
  • visual loss/blindness/amblyopia
  • retinitis pigmentosa/retinal pigmentary changes
  • thrombocytopenia/thrombopenia
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • autosomal recessive inheritance
  • macrocytic anemia
  • insulin-dependent/type 1 diabetes
  • sensorineural deafness/hearing loss

Drugs & Therapeutics for Thiamine-Responsive Megaloblastic Anemia Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Thiamine-Responsive Megaloblastic Anemia Syndrome

Drug clinical trials:

Search ClinicalTrials for Thiamine-Responsive Megaloblastic Anemia Syndrome

Search NIH Clinical Center for Thiamine-Responsive Megaloblastic Anemia Syndrome

Search CenterWatch for Thiamine-Responsive Megaloblastic Anemia Syndrome

Genetic Tests for Thiamine-Responsive Megaloblastic Anemia Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Thiamine-Responsive Megaloblastic Anemia Syndrome:

id Genetic test Affiliating Genes
1 Thiamine-Responsive Megaloblastic Anemia Syndrome21 SLC19A2
2 Megaloblastic Anemia, Thiamine-Responsive, with Diabetes Mellitus and Sensorineural Deafness23

Anatomical Context for Thiamine-Responsive Megaloblastic Anemia Syndrome

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34MalaCards
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MalaCards organs/tissues related to Thiamine-Responsive Megaloblastic Anemia Syndrome:

34
Heart

Animal Models for Thiamine-Responsive Megaloblastic Anemia Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Thiamine-Responsive Megaloblastic Anemia Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.1SLC19A2, SLC19A1
2MP:00053818.8SLC19A2, SLC19A1

Publications for Thiamine-Responsive Megaloblastic Anemia Syndrome

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53PubMed
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Articles related to Thiamine-Responsive Megaloblastic Anemia Syndrome:

(show all 19)
idTitleAuthorsYear
1
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report. (24357267)
2013
2
Thiamine-responsive megaloblastic anemia syndrome: a novel mutation. (22876572)
2012
3
Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent. (22837935)
2012
4
Thiamine-responsive megaloblastic anemia syndrome with atrial standstill: a case report. (21285901)
2011
5
Thiamine-responsive megaloblastic anemia syndrome. (20835854)
2010
6
Thiamine-responsive megaloblastic anemia syndrome: long term follow-up. (19619756)
2009
7
A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome. (18614593)
2009
8
Thiamine responsive megaloblastic anemia syndrome. (19347672)
2009
9
Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome. (14994241)
2004
10
Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome. (14627317)
2003
11
Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport. (11358373)
2001
12
Acute ischemic stroke in a young woman with the thiamine-responsive megaloblastic anemia syndrome. (10720020)
2000
13
Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy. (11135496)
2000
14
Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts. (10074490)
1999
15
Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23. (10066388)
1999
16
Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity. (9856490)
1998
17
Long-term follow-up of diabetes in two patients with thiamine-responsive megaloblastic anemia syndrome. (9538968)
1998
18
Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping. (9399900)
1997
19
Thiamine-Responsive Megaloblastic Anemia Syndrome (20301459)
1993

Variations for Thiamine-Responsive Megaloblastic Anemia Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Thiamine-Responsive Megaloblastic Anemia Syndrome:

65
id Symbol AA change Variation ID SNP ID
1SLC19A2p.Gly172AspVAR_010248rs28937595
2SLC19A2p.Asp93HisVAR_010249
3SLC19A2p.Ser143PheVAR_010250

Clinvar genetic disease variations for Thiamine-Responsive Megaloblastic Anemia Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1SLC19A2NM_006996.2(SLC19A2): c.484C> T (p.Arg162Ter)single nucleotide variantPathogenicrs74315373GRCh37Chr 1, 169446716: 169446716
2SLC19A2SLC19A2, 1-BP DEL, 724CdeletionPathogenic
3SLC19A2NM_006996.2(SLC19A2): c.515G> A (p.Gly172Asp)single nucleotide variantPathogenicrs28937595GRCh37Chr 1, 169446685: 169446685
4SLC19A2NM_006996.2(SLC19A2): c.750G> A (p.Trp250Ter)single nucleotide variantPathogenicrs74315374GRCh37Chr 1, 169446450: 169446450
5SLC19A2SLC19A2, 1-BP DEL, 885TdeletionPathogenic
6SLC19A2SLC19A2, 2-BP DEL, 1147GTdeletionPathogenic
7SLC19A2SLC19A2, 1-BP INS, 242AinsertionPathogenic
8SLC19A2SLC19A2, 2-BP DEL, 429TTdeletionPathogenic
9SLC19A2NM_006996.2(SLC19A2): c.1074G> A (p.Trp358Ter)single nucleotide variantPathogenicrs74315375GRCh37Chr 1, 169438031: 169438031
10SLC19A2NM_006996.2(SLC19A2): c.152C> T (p.Pro51Leu)single nucleotide variantPathogenicrs121908540GRCh37Chr 1, 169454853: 169454853

Expression for genes affiliated with Thiamine-Responsive Megaloblastic Anemia Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Thiamine-Responsive Megaloblastic Anemia Syndrome

Search GEO for disease gene expression data for Thiamine-Responsive Megaloblastic Anemia Syndrome.

Pathways for genes affiliated with Thiamine-Responsive Megaloblastic Anemia Syndrome

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51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG
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Pathways related to Thiamine-Responsive Megaloblastic Anemia Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1SLC19A2, SLC19A1
2
Show member pathways
flavin biosynthesis IV (mammalian)39
molybdenum cofactor biosynthesis39
coenzyme A biosynthesis39
thiamin salvage III39
alanine biosynthesis III39
thio-molybdenum cofactor biosynthesis39
biotin-carboxyl carrier protein assembly39
9.1SLC19A2, SLC19A1
39.1SLC19A2, SLC19A1

Compounds for genes affiliated with Thiamine-Responsive Megaloblastic Anemia Syndrome

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52PharmGKB, 25HMDB, 12DrugBank, 46Novoseek, 3BitterDB
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Compounds related to Thiamine-Responsive Megaloblastic Anemia Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1folic acid52 25 1211.1SLC19A2, SLC19A1
2methotrexate52 46 1211.1SLC19A2, SLC19A1
3thiamine46 3 25 1212.0SLC19A2, SLC19A1
4folate468.8SLC19A2, SLC19A1

GO Terms for genes affiliated with Thiamine-Responsive Megaloblastic Anemia Syndrome

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17Gene Ontology
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Biological processes related to Thiamine-Responsive Megaloblastic Anemia Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1folic acid transportGO:0158849.1SLC19A2, SLC19A1
2small molecule metabolic processGO:0442819.1SLC19A2, SLC19A1
3water-soluble vitamin metabolic processGO:0067679.0SLC19A2, SLC19A1
4vitamin metabolic processGO:0067668.8SLC19A2, SLC19A1

Molecular functions related to Thiamine-Responsive Megaloblastic Anemia Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1folic acid transporter activityGO:0085179.1SLC19A2, SLC19A1

Products for genes affiliated with Thiamine-Responsive Megaloblastic Anemia Syndrome

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  • Antibodies
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Sources for Thiamine-Responsive Megaloblastic Anemia Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet