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, 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
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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 23 48 24 25 70
Thiamine-Responsive Megaloblastic Anemia with Diabetes Mellitus and Sensorineural Deafness 54 27
 
Megaloblastic Anemia Thiamine-Responsive with Diabetes Mellitus and Sensorineural Deafness 48 70
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 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: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.

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

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 & 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:

 64 54 (show all 44)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0000407
2 macrocytic anemia64 hallmark (90%) HP:0001972
3 type i diabetes mellitus64 hallmark (90%) HP:0100651
4 optic atrophy64 54 typical (50%) Frequent (79-30%) HP:0000648
5 thrombocytopenia64 54 typical (50%) Frequent (79-30%) HP:0001873
6 visual impairment64 occasional (7.5%) HP:0000505
7 congestive heart failure64 54 occasional (7.5%) Occasional (29-5%) HP:0001635
8 sudden cardiac death64 occasional (7.5%) HP:0001645
9 cerebral ischemia64 occasional (7.5%) HP:0002637
10 short stature64 54 occasional (7.5%) Occasional (29-5%) HP:0004322
11 abnormality of retinal pigmentation64 occasional (7.5%) HP:0007703
12 cryptorchidism64 rare (5%) HP:0000028
13 seizures64 rare (5%) HP:0001250
14 ataxia64 rare (5%) HP:0001251
15 global developmental delay64 rare (5%) HP:0001263
16 stroke64 54 rare (5%) Occasional (29-5%) HP:0001297
17 cardiomyopathy64 rare (5%) HP:0001638
18 gastroesophageal reflux64 rare (5%) HP:0002020
19 retinal degeneration64 HP:0000546
20 cone/cone-rod dystrophy64 HP:0000548
21 visual loss64 54 Occasional (29-5%) HP:0000572
22 nystagmus64 HP:0000639
23 diabetes mellitus64 54 Very frequent (99-80%) HP:0000819
24 abnormality of the skin64 HP:0000951
25 hoarse voice64 HP:0001609
26 ventricular septal defect64 54 Occasional (29-5%) HP:0001629
27 atria septal defect64 HP:0001631
28 situs inversus totalis64 HP:0001696
29 sideroblastic anemia64 HP:0001924
30 aminoaciduria64 HP:0003355
31 congenital septal defect64 HP:0004760
32 thiamine-responsive megaloblastic anemia64 HP:0004860
33 arrhythmia64 HP:0011675
34 retinal dystrophy54 Occasional (29-5%)
35 pallor54 Very frequent (99-80%)
36 lethargy54 Very frequent (99-80%)
37 defect in the atrial septum54 Occasional (29-5%)
38 cardiac arrest54 Occasional (29-5%)
39 megaloblastic anemia54 Very frequent (99-80%)
40 diarrhea54 Very frequent (99-80%)
41 anorexia54 Very frequent (99-80%)
42 headache54 Very frequent (99-80%)
43 paresthesia54 Very frequent (99-80%)
44 paroxysmal atrial tachycardia54 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 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 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:

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, 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
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