MCID: THM002
MIFTS: 40

Thiamine-Responsive Megaloblastic Anemia Syndrome malady

Categories: Genetic diseases, Rare diseases, Ear diseases, Metabolic diseases, Endocrine diseases, Fetal diseases, Blood diseases

Aliases & Classifications for Thiamine-Responsive Megaloblastic Anemia Syndrome

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Sources:
49OMIM, 11diseasecard, 21GeneReviews, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 45NIH Rare Diseases, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Thiamine-Responsive Megaloblastic Anemia Syndrome:

Name: Thiamine-Responsive Megaloblastic Anemia Syndrome 49 11 21 22 23 47 51 67
Rogers Syndrome 21 45 22 23 51 67
Trma 21 45 22 23 51 67
Thiamine-Responsive Myelodysplasia 21 45 22 23 67
Thiamine-Responsive Megaloblastic Anemia with Diabetes Mellitus and Sensorineural Deafness 51 24
 
Megaloblastic Anemia Thiamine-Responsive with Diabetes Mellitus and Sensorineural Deafness 45 67
Thiamine-Responsive Anemia Syndrome 45 67
Thiamine Responsive Megaloblastic Anemia Syndrome 45
Thiamine Metabolism Dysfunction Syndrome 1 67
Thmd1 67

Characteristics:

Orphanet epidemiological data:

51
thiamine-responsive megaloblastic anemia syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age

HPO:

61
thiamine-responsive megaloblastic anemia syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 249270
Orphanet51 49827
ICD10 via Orphanet28 Q21.0
MESH via Orphanet37 C536510
UMLS via Orphanet66 C0342287
MedGen34 C0342287

Summaries for Thiamine-Responsive Megaloblastic Anemia Syndrome

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OMIM:49 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 thiamine metabolism dysfunction syndrome 2 and megaloblastic anemia, and has symptoms including type i diabetes mellitus, macrocytic anemia and sensorineural hearing impairment. An important gene associated with Thiamine-Responsive Megaloblastic Anemia Syndrome is SLC19A2 (Solute Carrier Family 19 Member 2), and among its related pathways are Metabolism of water-soluble vitamins and cofactors and Vitamin digestion and absorption. Affiliated tissues include heart, skin and adipocyte, and related mouse phenotype digestive/alimentary.

NIH Rare Diseases:45 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

UniProtKB/Swiss-Prot:67 Thiamine-responsive megaloblastic anemia syndrome: An autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke.

Genetics Home Reference:23 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).

GeneReviews summary for NBK1282

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
1thiamine metabolism dysfunction syndrome 229.2SLC19A1, SLC19A2
2megaloblastic anemia10.8
3cone-rod dystrophy10.1
4patent ductus arteriosus10.1
5ebstein anomaly10.1
6atrial standstill10.1
7thiamine metabolism dysfunction syndrome 59.9
8microcephaly, amish type9.9
9thiamine metabolism dysfunction syndrome 49.9
10thiamine-responsive megaloblastic anemia syndrome9.3SLC19A1, SLC19A2

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:

 51 (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 37)
id Description Frequency HPO Source Accession
1 type i diabetes mellitus hallmark (90%) HP:0100651
2 macrocytic anemia hallmark (90%) HP:0001972
3 sensorineural hearing impairment hallmark (90%) HP:0000407
4 thrombocytopenia typical (50%) HP:0001873
5 optic atrophy typical (50%) HP:0000648
6 abnormality of retinal pigmentation occasional (7.5%) HP:0007703
7 short stature occasional (7.5%) HP:0004322
8 cerebral ischemia occasional (7.5%) HP:0002637
9 sudden cardiac death occasional (7.5%) HP:0001645
10 congestive heart failure occasional (7.5%) HP:0001635
11 visual impairment occasional (7.5%) HP:0000505
12 gastroesophageal reflux rare (5%) HP:0002020
13 cardiomyopathy rare (5%) HP:0001638
14 stroke rare (5%) HP:0001297
15 global developmental delay rare (5%) HP:0001263
16 ataxia rare (5%) HP:0001251
17 seizures rare (5%) HP:0001250
18 cryptorchidism rare (5%) HP:0000028
19 arrhythmia HP:0011675
20 thiamine-responsive megaloblastic anemia HP:0004860
21 congenital septal defect HP:0004760
22 short stature HP:0004322
23 aminoaciduria HP:0003355
24 sideroblastic anemia HP:0001924
25 thrombocytopenia HP:0001873
26 situs inversus totalis HP:0001696
27 atria septal defect HP:0001631
28 ventricular septal defect HP:0001629
29 hoarse voice HP:0001609
30 abnormality of the skin HP:0000951
31 diabetes mellitus HP:0000819
32 optic atrophy HP:0000648
33 nystagmus HP:0000639
34 visual loss HP:0000572
35 cone/cone-rod dystrophy HP:0000548
36 retinal degeneration HP:0000546
37 sensorineural hearing impairment HP:0000407

Drugs & Therapeutics for Thiamine-Responsive Megaloblastic Anemia Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome22 SLC19A2

Anatomical Context for Thiamine-Responsive Megaloblastic Anemia Syndrome

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

33
Heart, Skin, Adipocyte, Liver, Lung

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.1SLC19A1, SLC19A2

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:

67
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:

5
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.

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

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Cellular components related to Thiamine-Responsive Megaloblastic Anemia Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1membraneGO:00160209.1SLC19A1, SLC19A2

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

idNameGO IDScoreTop Affiliating Genes
1transportGO:00068109.1SLC19A1, SLC19A2

Sources for Thiamine-Responsive Megaloblastic Anemia Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet