TRMA
MCID: THM002
MIFTS: 46

Thiamine-Responsive Megaloblastic Anemia Syndrome (TRMA) malady

Ear diseases, Metabolic diseases, Endocrine diseases, Fetal diseases, Blood diseases categories

Summaries for Thiamine-Responsive Megaloblastic Anemia Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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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 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 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:42 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:46 249270

GeneReviews summary for trma

Aliases & Classifications for Thiamine-Responsive Megaloblastic Anemia Syndrome

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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
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 46 44 48
rogers syndrome 19 42 21 48
trma 19 42 21 48
thiamine-responsive myelodysplasia 19 42 21
megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness 42 22
thiamine responsive megaloblastic anemia syndrome 42 20
thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness 48
thiamine-responsive anemia syndrome 42


External Ids:

OMIM46 249270
MESH via Orphanet35 C536510
ICD10 via Orphanet26 D53.1
SNOMED-CT via Orphanet57 237617006
UMLS via Orphanet61 C0342287

Related Diseases for Thiamine-Responsive Megaloblastic Anemia Syndrome

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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
2diabetes mellitus10.6
3stroke, ischemic10.4
4ebstein anomaly10.4
5cone-rod dystrophy10.4
6cone dystrophy10.4
7patent ductus arteriosus10.4
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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

249270

Clinical synopsis from OMIM:

249270

Symptoms:

48 (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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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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

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32MalaCards
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MalaCards organs/tissues related to Thiamine-Responsive Megaloblastic Anemia Syndrome:

32
Heart, Skin

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

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36MGI
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MGI Mouse Phenotypes related to Thiamine-Responsive Megaloblastic Anemia Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.5SLC19A2, SLC19A1, SLC19A3
2MP:00053818.2SLC19A2, SLC19A1, SLC19A3

Publications for Thiamine-Responsive Megaloblastic Anemia Syndrome

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Genetic Variations for Thiamine-Responsive Megaloblastic Anemia Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Thiamine-Responsive Megaloblastic Anemia Syndrome:

62
id Symbol AA change Variation ID SNP ID
1SLC19A2p.Gly172AspVAR_010248rs28937595
2SLC19A2p.Asp93HisVAR_010249
3SLC19A2p.Ser143PheVAR_010250

Expression for genes affiliated with Thiamine-Responsive Megaloblastic Anemia Syndrome

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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

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53Reactome, 29KEGG
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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

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28IUPHAR, 44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 2BitterDB
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Compounds related to Thiamine-Responsive Megaloblastic Anemia Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1[3h]thiamine289.3SLC19A2, SLC19A3
2methotrexate44 49 1111.0SLC19A2, SLC19A1
3folic acid49 11 2410.9SLC19A1, SLC19A2
4folate448.7SLC19A2, SLC19A1
5thiamine44 2 11 2411.6SLC19A2, SLC19A1, SLC19A3

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

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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet