TRMA
MCID: THM002
MIFTS: 39

Thiamine-Responsive Megaloblastic Anemia Syndrome (TRMA) 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:
12diseasecard, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Thiamine-Responsive Megaloblastic Anemia Syndrome:

Name: Thiamine-Responsive Megaloblastic Anemia Syndrome 52 23 24 25 54 70 12 50
Rogers Syndrome 23 48 24 25 54 70
Trma 23 48 24 25 54 70
Thiamine-Responsive Myelodysplasia 48 24 25 70
Megaloblastic Anemia Thiamine-Responsive with Diabetes Mellitus and Sensorineural Deafness 48 70
 
Thiamine-Responsive Megaloblastic Anemia with Diabetes Mellitus and Sensorineural Deafness 54 27
Thiamine-Responsive Anemia Syndrome 48 70
Thiamine Responsive Megaloblastic Anemia Syndrome 48
Thiamine Metabolism Dysfunction Syndrome 1 70
Thmd1 70

Characteristics:

Orphanet epidemiological data:

54
thiamine-responsive megaloblastic anemia syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age

HPO:

64
thiamine-responsive megaloblastic anemia syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 249270
Orphanet54 ORPHA49827
UMLS via Orphanet69 C0342287
MESH via Orphanet40 C536510
ICD10 via Orphanet31 Q21.0
MedGen37 C0342287

Summaries for Thiamine-Responsive Megaloblastic Anemia Syndrome

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OMIM:52 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 diabetes and deafness, maternally inherited and thiamine metabolism dysfunction syndrome 2, and has symptoms including Array, Array and Array. 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 and skin.

Genetics Home Reference:25 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:48 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:70 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.

GeneReviews for NBK1282

Related Diseases for Thiamine-Responsive Megaloblastic Anemia Syndrome

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



Diseases related to thiamine-responsive megaloblastic anemia syndrome

Symptoms & Phenotypes for Thiamine-Responsive Megaloblastic Anemia Syndrome

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Symptoms by clinical synopsis from OMIM:

249270

Clinical features from OMIM:

249270

Human phenotypes related to Thiamine-Responsive Megaloblastic Anemia Syndrome:

 54 64 (show all 38)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment64 54 Very frequent (99-80%) HP:0000407
2 retinal dystrophy64 54 Occasional (29-5%) HP:0000556
3 visual loss64 54 Occasional (29-5%) HP:0000572
4 optic atrophy64 54 Frequent (79-30%) HP:0000648
5 diabetes mellitus64 54 Very frequent (99-80%) HP:0000819
6 pallor64 54 Very frequent (99-80%) HP:0000980
7 lethargy64 54 Very frequent (99-80%) HP:0001254
8 stroke64 54 Occasional (29-5%) HP:0001297
9 ventricular septal defect64 54 Occasional (29-5%) HP:0001629
10 atria septal defect54 Occasional (29-5%)
11 congestive heart failure64 54 Occasional (29-5%) HP:0001635
12 cardiac arrest64 54 Occasional (29-5%) HP:0001695
13 thrombocytopenia64 54 Frequent (79-30%) HP:0001873
14 megaloblastic anemia64 54 Very frequent (99-80%) HP:0001889
15 diarrhea64 54 Very frequent (99-80%) HP:0002014
16 anorexia64 54 Very frequent (99-80%) HP:0002039
17 headache64 54 Very frequent (99-80%) HP:0002315
18 paresthesia64 54 Very frequent (99-80%) HP:0003401
19 short stature64 54 Occasional (29-5%) HP:0004322
20 paroxysmal atrial tachycardia64 54 Occasional (29-5%) HP:0006671
21 cryptorchidism64 HP:0000028
22 retinal degeneration64 HP:0000546
23 cone/cone-rod dystrophy64 HP:0000548
24 nystagmus64 HP:0000639
25 abnormality of the skin64 HP:0000951
26 seizures64 HP:0001250
27 ataxia64 HP:0001251
28 global developmental delay64 HP:0001263
29 hoarse voice64 HP:0001609
30 atrial septal defect64 HP:0001631
31 cardiomyopathy64 HP:0001638
32 situs inversus totalis64 HP:0001696
33 sideroblastic anemia64 HP:0001924
34 gastroesophageal reflux64 HP:0002020
35 aminoaciduria64 HP:0003355
36 congenital septal defect64 HP:0004760
37 thiamine-responsive megaloblastic anemia64 HP:0004860
38 arrhythmia64 HP:0011675

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 Megaloblastic Anemia, Thiamine-Responsive, with Diabetes Mellitus and Sensorineural Deafness27
2 Thiamine-Responsive Megaloblastic Anemia Syndrome24 SLC19A2

Anatomical Context for Thiamine-Responsive Megaloblastic Anemia Syndrome

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

36
Heart, Skin

Publications for Thiamine-Responsive Megaloblastic Anemia Syndrome

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Articles related to Thiamine-Responsive Megaloblastic Anemia Syndrome:

(show all 23)
idTitleAuthorsYear
1
Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report. (28504500)
2017
2
Thiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified. (25707023)
2015
3
Cochlear implant and thiamine-responsive megaloblastic anemia syndrome. (24658560)
2014
4
Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2. (24520986)
2014
5
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report. (24357267)
2013
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: a novel mutation. (22876572)
2012
8
Thiamine-responsive megaloblastic anemia syndrome with atrial standstill: a case report. (21285901)
2011
9
Thiamine-responsive megaloblastic anemia syndrome. (20835854)
2010
10
Thiamine-responsive megaloblastic anemia syndrome: long term follow-up. (19619756)
2009
11
Thiamine responsive megaloblastic anemia syndrome. (19347672)
2009
12
A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome. (18614593)
2009
13
Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome. (14994241)
2004
14
Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome. (14627317)
2003
15
Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport. (11358373)
2001
16
Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy. (11135496)
2000
17
Acute ischemic stroke in a young woman with the thiamine-responsive megaloblastic anemia syndrome. (10720020)
2000
18
Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23. (10066388)
1999
19
Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts. (10074490)
1999
20
Long-term follow-up of diabetes in two patients with thiamine-responsive megaloblastic anemia syndrome. (9538968)
1998
21
Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity. (9856490)
1998
22
Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping. (9399900)
1997
23
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:

70
id Symbol AA change Variation ID SNP ID
1SLC19A2p.Gly172AspVAR_010248rs28937595
2SLC19A2p.Asp93HisVAR_010249
3SLC19A2p.Ser143PheVAR_010250rs761957186

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)SNVPathogenicrs74315373GRCh37Chr 1, 169446716: 169446716
2SLC19A2SLC19A2, 1-BP DEL, 724CdeletionPathogenic
3SLC19A2NM_ 006996.2(SLC19A2): c.515G> A (p.Gly172Asp)SNVPathogenicrs28937595GRCh37Chr 1, 169446685: 169446685
4SLC19A2NM_ 006996.2(SLC19A2): c.750G> A (p.Trp250Ter)SNVPathogenicrs74315374GRCh37Chr 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)SNVPathogenicrs74315375GRCh37Chr 1, 169438031: 169438031
10SLC19A2NM_ 006996.2(SLC19A2): c.152C> T (p.Pro51Leu)SNVPathogenicrs121908540GRCh37Chr 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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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:00158849.1SLC19A1, SLC19A2

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

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

Sources for Thiamine-Responsive Megaloblastic Anemia Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet