MCID: THM002
MIFTS: 43

Thiamine-Responsive Megaloblastic Anemia Syndrome malady

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

Aliases & Classifications for Thiamine-Responsive Megaloblastic Anemia Syndrome

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Sources:
45OMIM, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Thiamine-Responsive Megaloblastic Anemia Syndrome, Aliases & Descriptions:

Name: Thiamine-Responsive Megaloblastic Anemia Syndrome 45 10 19 41 21 43 47
Rogers Syndrome 19 41 21 47
Trma 19 41 21 47
Thiamine-Responsive Megaloblastic Anemia with Diabetes Mellitus and Sensorineural Deafness 41 47 22
 
Thiamine-Responsive Myelodysplasia 19 41 21
Thiamine Responsive Megaloblastic Anemia Syndrome 41 20
Megaloblastic Anemia Thiamine-Responsive with Diabetes Mellitus and Sensorineural Deafness 41
Thiamine-Responsive Anemia Syndrome 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
thiamine-responsive megaloblastic anemia syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age


External Ids:

OMIM45 249270
Orphanet47 49827
MESH via Orphanet34 C536510
ICD10 via Orphanet26 D53.1
UMLS via Orphanet61 C0342287

Summaries for Thiamine-Responsive Megaloblastic Anemia Syndrome

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OMIM:45 Thiamine-responsive megaloblastic anemia syndrome comprises megaloblastic anemia, diabetes mellitus, and sensorineural... (249270) more...

MalaCards based summary: Thiamine-Responsive Megaloblastic Anemia Syndrome, also known as rogers syndrome, is related to megaloblastic anemia and cone-rod dystrophy, and has symptoms including sensorineural hearing impairment, macrocytic anemia and type i diabetes mellitus. 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 skin, and related mouse phenotypes are endocrine/exocrine gland and digestive/alimentary.

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).

NIH Rare Diseases:41 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

GeneReviews summary for trma

Related Diseases for Thiamine-Responsive Megaloblastic Anemia Syndrome

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Diseases related to Thiamine-Responsive Megaloblastic Anemia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1megaloblastic anemia31.8SLC19A2
2cone-rod dystrophy10.4
3patent ductus arteriosus10.4
4ebstein anomaly10.4
5intrauterine growth retardation with increased mitomycin c sensitivity10.1
6thiamine metabolism dysfunction syndrome 29.7SLC19A2, 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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Symptoms by clinical synopsis from OMIM:

249270

Clinical features from OMIM:

249270

Symptoms:

 47 (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

HPO human phenotypes related to Thiamine-Responsive Megaloblastic Anemia Syndrome:

(show all 39)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 macrocytic anemia hallmark (90%) HP:0001972
3 type i diabetes mellitus hallmark (90%) HP:0100651
4 optic atrophy typical (50%) HP:0000648
5 thrombocytopenia typical (50%) HP:0001873
6 visual impairment occasional (7.5%) HP:0000505
7 congestive heart failure occasional (7.5%) HP:0001635
8 sudden cardiac death occasional (7.5%) HP:0001645
9 malformation of the heart and great vessels occasional (7.5%) HP:0002564
10 cerebral ischemia occasional (7.5%) HP:0002637
11 short stature occasional (7.5%) HP:0004322
12 abnormal retinal pigmentation occasional (7.5%) HP:0007703
13 cryptorchidism rare (5%) HP:0000028
14 seizures rare (5%) HP:0001250
15 ataxia rare (5%) HP:0001251
16 global developmental delay rare (5%) HP:0001263
17 stroke rare (5%) HP:0001297
18 cardiomyopathy rare (5%) HP:0001638
19 gastroesophageal reflux rare (5%) HP:0002020
20 autosomal recessive inheritance HP:0000007
21 sensorineural hearing impairment HP:0000407
22 retinal degeneration HP:0000546
23 cone-rod dystrophy HP:0000548
24 visual loss HP:0000572
25 nystagmus HP:0000639
26 optic atrophy HP:0000648
27 diabetes mellitus HP:0000819
28 abnormality of the skin HP:0000951
29 hoarse voice HP:0001609
30 ventricular septal defect HP:0001629
31 defect in the atrial septum HP:0001631
32 situs inversus totalis HP:0001696
33 thrombocytopenia HP:0001873
34 sideroblastic anemia HP:0001924
35 aminoaciduria HP:0003355
36 short stature HP:0004322
37 congenital septal defect HP:0004760
38 thiamine-responsive megaloblastic anemia HP:0004860
39 arrhythmia HP:0011675

Drugs & Therapeutics for Thiamine-Responsive Megaloblastic Anemia Syndrome

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Drug clinical trials:

Search ClinicalTrials for Thiamine-Responsive Megaloblastic Anemia Syndrome

Search NIH Clinical Center for Thiamine-Responsive Megaloblastic Anemia Syndrome

Genetic Tests for Thiamine-Responsive Megaloblastic Anemia Syndrome

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

31
Heart, Skin

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

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

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.1SLC19A2, SLC19A1
2MP:00053818.8SLC19A2, SLC19A1

Publications for Thiamine-Responsive Megaloblastic Anemia Syndrome

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Articles related to Thiamine-Responsive Megaloblastic Anemia Syndrome:

(show all 22)
idTitleAuthorsYear
1
Thiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified. (25707023)
2015
2
Cochlear implant and thiamine-responsive megaloblastic anemia syndrome. (24658560)
2014
3
Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2. (24520986)
2014
4
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report. (24357267)
2013
5
Thiamine-responsive megaloblastic anemia syndrome: a novel mutation. (22876572)
2012
6
Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent. (22837935)
2012
7
Thiamine-responsive megaloblastic anemia syndrome with atrial standstill: a case report. (21285901)
2011
8
Thiamine-responsive megaloblastic anemia syndrome. (20835854)
2010
9
Thiamine-responsive megaloblastic anemia syndrome: long term follow-up. (19619756)
2009
10
A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome. (18614593)
2009
11
Thiamine responsive megaloblastic anemia syndrome. (19347672)
2009
12
Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome. (14994241)
2004
13
Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome. (14627317)
2003
14
Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport. (11358373)
2001
15
Acute ischemic stroke in a young woman with the thiamine-responsive megaloblastic anemia syndrome. (10720020)
2000
16
Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy. (11135496)
2000
17
Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts. (10074490)
1999
18
Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23. (10066388)
1999
19
Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity. (9856490)
1998
20
Long-term follow-up of diabetes in two patients with thiamine-responsive megaloblastic anemia syndrome. (9538968)
1998
21
Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping. (9399900)
1997
22
Thiamine-Responsive Megaloblastic Anemia Syndrome (20301459)
1993

Variations for Thiamine-Responsive Megaloblastic Anemia Syndrome

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UniProtKB/Swiss-Prot 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

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

6
id Gene Variation 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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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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Pathways related to Thiamine-Responsive Megaloblastic Anemia Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1SLC19A2, SLC19A1
2
Show member pathways
flavin biosynthesis IV (mammalian)36
molybdenum cofactor biosynthesis36
coenzyme A biosynthesis36
thiamin salvage III36
alanine biosynthesis III36
thio-molybdenum cofactor biosynthesis36
biotin-carboxyl carrier protein assembly36
9.1SLC19A2, SLC19A1
39.1SLC19A2, SLC19A1

Compounds for genes affiliated with Thiamine-Responsive Megaloblastic Anemia Syndrome

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Sources:
49PharmGKB, 24HMDB, 12DrugBank, 43Novoseek, 2BitterDB
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Compounds related to Thiamine-Responsive Megaloblastic Anemia Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1folic acid49 24 1211.1SLC19A2, SLC19A1
2methotrexate49 43 1211.1SLC19A2, SLC19A1
3thiamine43 2 24 1212.0SLC19A2, SLC19A1
4folate438.8SLC19A2, SLC19A1

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

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Biological processes related to Thiamine-Responsive Megaloblastic Anemia Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1folic acid transportGO:00158849.1SLC19A2, SLC19A1
2small molecule metabolic processGO:00442819.1SLC19A2, SLC19A1
3water-soluble vitamin metabolic processGO:00067679.0SLC19A2, SLC19A1
4vitamin metabolic processGO:00067668.8SLC19A2, SLC19A1

Molecular functions related to Thiamine-Responsive Megaloblastic Anemia Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1folic acid transporter activityGO:00085179.1SLC19A2, SLC19A1

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet