MCID: THM002
MIFTS: 38

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:
12diseasecard, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Thiamine-Responsive Megaloblastic Anemia Syndrome:

Name: Thiamine-Responsive Megaloblastic Anemia Syndrome 51 23 24 25 53 69 12 49
Rogers Syndrome 23 47 24 25 53 69
Trma 23 47 24 25 53 69
Thiamine-Responsive Myelodysplasia 23 47 24 25 69
Thiamine-Responsive Megaloblastic Anemia with Diabetes Mellitus and Sensorineural Deafness 53 26
 
Megaloblastic Anemia Thiamine-Responsive with Diabetes Mellitus and Sensorineural Deafness 47 69
Thiamine-Responsive Anemia Syndrome 47 69
Thiamine Responsive Megaloblastic Anemia Syndrome 47
Thiamine Metabolism Dysfunction Syndrome 1 69
Thmd1 69

Characteristics:

Orphanet epidemiological data:

53
thiamine-responsive megaloblastic anemia syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age

HPO:

63
thiamine-responsive megaloblastic anemia syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 249270
Orphanet53 ORPHA49827
UMLS via Orphanet68 C0342287
MESH via Orphanet39 C536510
ICD10 via Orphanet30 Q21.0
MedGen36 C0342287

Summaries for Thiamine-Responsive Megaloblastic Anemia Syndrome

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OMIM:51 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 diabetes and deafness, maternally inherited, 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 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.

UniProtKB/Swiss-Prot:69 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: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:47 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 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 230.1SLC19A1, SLC19A2
2diabetes and deafness, maternally inherited10.9
3thiamine metabolism dysfunction syndrome 510.8
4microcephaly, amish type10.8
5thiamine metabolism dysfunction syndrome 410.8
6cone-rod dystrophy10.0
7ebstein anomaly10.0
8patent ductus arteriosus10.0
9atrial standstill10.0
10beriberi9.8

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

Human phenotypes related to Thiamine-Responsive Megaloblastic Anemia Syndrome:

 63 53 (show all 44)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0000407
2 macrocytic anemia63 hallmark (90%) HP:0001972
3 type i diabetes mellitus63 hallmark (90%) HP:0100651
4 optic atrophy63 53 typical (50%) Frequent (79-30%) HP:0000648
5 thrombocytopenia63 53 typical (50%) Frequent (79-30%) HP:0001873
6 visual impairment63 occasional (7.5%) HP:0000505
7 congestive heart failure63 53 occasional (7.5%) Occasional (29-5%) HP:0001635
8 sudden cardiac death63 occasional (7.5%) HP:0001645
9 cerebral ischemia63 occasional (7.5%) HP:0002637
10 short stature63 53 occasional (7.5%) Occasional (29-5%) HP:0004322
11 abnormality of retinal pigmentation63 occasional (7.5%) HP:0007703
12 cryptorchidism63 rare (5%) HP:0000028
13 seizures63 rare (5%) HP:0001250
14 ataxia63 rare (5%) HP:0001251
15 global developmental delay63 rare (5%) HP:0001263
16 stroke63 53 rare (5%) Occasional (29-5%) HP:0001297
17 cardiomyopathy63 rare (5%) HP:0001638
18 gastroesophageal reflux63 rare (5%) HP:0002020
19 retinal degeneration63 HP:0000546
20 cone/cone-rod dystrophy63 HP:0000548
21 visual loss63 53 Occasional (29-5%) HP:0000572
22 nystagmus63 HP:0000639
23 diabetes mellitus63 53 Very frequent (99-80%) HP:0000819
24 abnormality of the skin63 HP:0000951
25 hoarse voice63 HP:0001609
26 ventricular septal defect63 53 Occasional (29-5%) HP:0001629
27 atria septal defect63 HP:0001631
28 situs inversus totalis63 HP:0001696
29 sideroblastic anemia63 HP:0001924
30 aminoaciduria63 HP:0003355
31 congenital septal defect63 HP:0004760
32 thiamine-responsive megaloblastic anemia63 HP:0004860
33 arrhythmia63 HP:0011675
34 retinal dystrophy53 Occasional (29-5%)
35 pallor53 Very frequent (99-80%)
36 lethargy53 Very frequent (99-80%)
37 defect in the atrial septum53 Occasional (29-5%)
38 cardiac arrest53 Occasional (29-5%)
39 megaloblastic anemia53 Very frequent (99-80%)
40 diarrhea53 Very frequent (99-80%)
41 anorexia53 Very frequent (99-80%)
42 headache53 Very frequent (99-80%)
43 paresthesia53 Very frequent (99-80%)
44 paroxysmal atrial tachycardia53 Occasional (29-5%)

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 Deafness26
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:

35
Heart, Skin

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

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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:

69
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, 724CdeletionPathogenicChr na, -1: -1
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, 885TdeletionPathogenicChr na, -1: -1
6SLC19A2SLC19A2, 2-BP DEL, 1147GTdeletionPathogenicChr na, -1: -1
7SLC19A2SLC19A2, 1-BP INS, 242AinsertionPathogenicChr na, -1: -1
8SLC19A2SLC19A2, 2-BP DEL, 429TTdeletionPathogenicChr na, -1: -1
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet