TRMA
MCID: THM002
MIFTS: 44

Thiamine-Responsive Megaloblastic Anemia Syndrome (TRMA) malady

Ear, Metabolic, Endocrine, Fetal, Blood categories

Summaries for Thiamine-Responsive Megaloblastic Anemia Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 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 stroke, ischemic, and has symptoms including sensorineural deafness/hearing loss, insulin-dependent/type 1 diabetes and macrocytic anemia. 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 Vitamin B1 (thiamin) metabolism and Metabolism. The compounds [3h]thiamine and methotrexate have been mentioned in the context of this disorder. Affiliated tissues include heart and skin, and related mouse phenotypes are immune system and digestive/alimentary.

NIH Rare Diseases:43 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:47 249270

GeneReviews summary for trma

Aliases & Classifications for Thiamine-Responsive Megaloblastic Anemia Syndrome

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Ear, Metabolic, Endocrine, Blood


Characteristics (Orphanet epidemiological data):

49
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 19 21 47 45 49
rogers syndrome 19 43 21 49
trma 19 43 21 49
thiamine-responsive myelodysplasia 19 43 21
megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness 43 22
thiamine responsive megaloblastic anemia syndrome 43 20
thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness 49
thiamine-responsive anemia syndrome 43


External Ids:

OMIM47 249270
MESH via Orphanet36 C536510
ICD10 via Orphanet26 D53.1
SNOMED-CT via Orphanet58 237617006
UMLS via Orphanet62 C0342287

Related Diseases for Thiamine-Responsive Megaloblastic Anemia Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Thiamine-Responsive Megaloblastic Anemia Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1megaloblastic anemia31.5SLC19A2, SLC19A3
2stroke, ischemic10.4
3ebstein anomaly10.4
4cone dystrophy10.4
5patent ductus arteriosus10.4
6young syndrome10.4
7megaloblastic anemia 110.4
8maternally inherited diabetes and deafness10.1
9deficiency anemia10.0SLC19A2
10neural tube defects10.0SLC19A1
11biotin-responsive basal ganglia disease10.0SLC19A2, SLC19A1, SLC19A3

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



Diseases related to thiamine-responsive megaloblastic anemia syndrome

Clinical Features for Thiamine-Responsive Megaloblastic Anemia Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

249270

Clinical synopsis from OMIM:

249270

Symptoms:

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

Drugs & Therapeutics for Thiamine-Responsive Megaloblastic Anemia Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
20GeneTests, 22GTR
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Genetic tests related to Thiamine-Responsive Megaloblastic Anemia Syndrome:

id Genetic test Affiliating Genes
1 Thiamine-responsive Megaloblastic Anemia Syndrome20 SLC19A2
2 Megaloblastic Anemia, Thiamine-responsive, With Diabetes Mellitus And Sensorineural Deafness22

Anatomical Context for Thiamine-Responsive Megaloblastic Anemia Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Thiamine-Responsive Megaloblastic Anemia Syndrome:

33
Heart, Skin

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

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Thiamine-Responsive Megaloblastic Anemia Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.5SLC19A2, SLC19A1, SLC19A3
2MP:00053818.2SLC19A2, SLC19A1, SLC19A3

Publications for Thiamine-Responsive Megaloblastic Anemia Syndrome

Sources:
51PubMed
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Articles related to Thiamine-Responsive Megaloblastic Anemia Syndrome:

(show all 22)
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
TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report and review of the literature. (15016149)
2002
12
Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport. (11358373)
2001
13
Acute ischemic stroke in a young woman with the thiamine-responsive megaloblastic anemia syndrome. (10720020)
2000
14
Thiamine, beta-cell function and peripheral glucose utilization in thiamine-responsive megaloblastic anemia (TRMA) syndrome. (11194926)
2000
15
Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy. (11135496)
2000
16
Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts. (10074490)
1999
17
Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23. (10066388)
1999
18
Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity. (9856490)
1998
19
Long-term follow-up of diabetes in two patients with thiamine-responsive megaloblastic anemia syndrome. (9538968)
1998
20
Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping. (9399900)
1997
21
Thiamine-Responsive Megaloblastic Anemia Syndrome (20301459)
1993
22
Thiamine-responsive megaloblastic anemia, sensorineural deafness, and diabetes mellitus: A new syndrome? (671156)
1978

Genetic Variations for Thiamine-Responsive Megaloblastic Anemia Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Thiamine-Responsive Megaloblastic Anemia Syndrome:

63
id Symbol AA change Variation SNP ID
1SLC19A2p.Gly172AspVAR_010248rs28937595
2SLC19A2p.Asp93HisVAR_010249
3SLC19A2p.Ser143PheVAR_010250

Expression for genes affiliated with Thiamine-Responsive Megaloblastic Anemia Syndrome

Sources:
1BioGPS, 15Gene 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

Sources:
54Reactome, 30KEGG
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Pathways related to Thiamine-Responsive Megaloblastic Anemia Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3SLC19A2, SLC19A3
28.5SLC19A2, SLC19A1, SLC19A3
3
Hide members
8.5SLC19A3, SLC19A1, SLC19A2
48.5SLC19A2, SLC19A1, SLC19A3

Compounds for genes affiliated with Thiamine-Responsive Megaloblastic Anemia Syndrome

Sources:
29IUPHAR, 45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 2BitterDB
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Compounds related to Thiamine-Responsive Megaloblastic Anemia Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1[3h]thiamine299.3SLC19A2, SLC19A3
2methotrexate45 50 1111.0SLC19A2, SLC19A1
3folic acid50 11 2410.9SLC19A1, SLC19A2
4folate458.7SLC19A2, SLC19A1
5thiamine45 2 11 2411.6SLC19A2, SLC19A1, SLC19A3

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

Sources:
16Gene Ontology
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Biological processes related to Thiamine-Responsive Megaloblastic Anemia Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1thiamine-containing compound metabolic processGO:0427239.2SLC19A3, SLC19A2
2folic acid transportGO:0158848.7SLC19A2, SLC19A1
3water-soluble vitamin metabolic processGO:0067678.6SLC19A2, SLC19A1, SLC19A3
4vitamin metabolic processGO:0067668.5SLC19A2, SLC19A1, SLC19A3
5small molecule metabolic processGO:0442818.5SLC19A2, SLC19A1, SLC19A3

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

idNameGO IDScoreTop Affiliating Genes
1folic acid transporter activityGO:0085179.0SLC19A2, SLC19A1
2thiamine uptake transmembrane transporter activityGO:0154039.0SLC19A2, SLC19A3
3reduced folate carrier activityGO:0085188.5SLC19A2, SLC19A1, SLC19A3
4folic acid bindingGO:0055428.4SLC19A3, SLC19A1, SLC19A2

Products for genes affiliated with Thiamine-Responsive Megaloblastic Anemia Syndrome

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Sources for Thiamine-Responsive Megaloblastic Anemia Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet