TRMA
MCID: THM002
MIFTS: 48

Thiamine-Responsive Megaloblastic Anemia Syndrome (TRMA)

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

Aliases & Classifications for Thiamine-Responsive Megaloblastic Anemia Syndrome

MalaCards integrated aliases for Thiamine-Responsive Megaloblastic Anemia Syndrome:

Name: Thiamine-Responsive Megaloblastic Anemia Syndrome 58 12 25 26 60 76 13 56 15
Rogers Syndrome 58 12 54 26 60 76
Trma 58 12 54 26 60 76
Thiamine-Responsive Myelodysplasia 58 12 54 26 76
Megaloblastic Anemia, Thiamine-Responsive, with Diabetes Mellitus and Sensorineural Deafness 58 30 6 41
Thiamine-Responsive Anemia Syndrome 58 12 54 76
Thiamine Metabolism Dysfunction Syndrome 1 58 12 76
Thiamine-Responsive Megaloblastic Anemia 38 6 74
Thmd1 58 12 76
Thiamine-Responsive Megaloblastic Anemia with Diabetes Mellitus and Sensorineural Deafness 12 60
Megaloblastic Anemia Thiamine-Responsive with Diabetes Mellitus and Sensorineural Deafness 54 76
Thiamine Responsive Megaloblastic Anemia Syndrome 54 45
Thiamine Metabolism Dysfunction Syndrome 1 ; Thmd1 58

Characteristics:

Orphanet epidemiological data:

60
thiamine-responsive megaloblastic anemia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood (infancy to 6 years)
classic triad is megaloblastic anemia, diabetes, and deafness, but some patients may not have this triad
variable severity of phenotype and other features may be present
later onset associated with milder severity has been reported
anemia, diabetes, and deafness often show onset at different ages
diabetes and anemia respond to high doses of thiamine supplementation


HPO:

33
thiamine-responsive megaloblastic anemia syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Thiamine-Responsive Megaloblastic Anemia Syndrome

Genetics Home Reference : 26 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).

MalaCards based summary : Thiamine-Responsive Megaloblastic Anemia Syndrome, also known as rogers syndrome, is related to thiamine metabolism dysfunction syndrome 2 and beriberi. An important gene associated with Thiamine-Responsive Megaloblastic Anemia Syndrome is SLC19A2 (Solute Carrier Family 19 Member 2), and among its related pathways/superpathways are Type II diabetes mellitus and FOXA2 and FOXA3 transcription factor networks. Affiliated tissues include skin, pancreas and eye, and related phenotypes are diabetes mellitus and sensorineural hearing impairment

Disease Ontology : 12 An autosomal recessive disease characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine that has material basis in homozygous mutation in the SLC19A2 gene on chromosome 1q24.

NIH Rare Diseases : 54 Thiamine-responsive megaloblastic anemiasyndrome 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.

OMIM : 58 Thiamine-responsive megaloblastic anemia syndrome comprises 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 (summary by Bergmann et al., 2009). (249270)

UniProtKB/Swiss-Prot : 76 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:

Related Diseases for Thiamine-Responsive Megaloblastic Anemia Syndrome

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 thiamine metabolism dysfunction syndrome 2 32.1 SLC19A1 SLC19A2 SLC19A3
2 beriberi 30.5 SLC19A2 SLC19A3
3 monogenic diabetes 30.5 ABCC8 INS KCNJ11 SLC19A2
4 anemia, congenital dyserythropoietic, type iii 11.5
5 diabetes and deafness, maternally inherited 11.1
6 microcephaly, amish type 11.1
7 thiamine metabolism dysfunction syndrome 4 11.1
8 thiamine metabolism dysfunction syndrome 5 11.1
9 megaloblastic anemia 10.9
10 diabetes mellitus 10.4
11 deficiency anemia 10.3
12 munchausen by proxy 10.3 ABCC8 KCNJ11
13 cardiomyopathy, dilated, 1o 10.2 ABCC8 KCNJ11
14 cone-rod dystrophy 2 10.2
15 ebstein anomaly 10.2
16 patent ductus arteriosus 1 10.2
17 atrial standstill 10.2
18 diabetes mellitus, ketosis-prone 10.2
19 atrial heart septal defect 10.2
20 mitochondrial disorders 10.2
21 rere-related disorders 10.2
22 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.2 ABCC8 KCNJ11
23 hirata disease 10.2 ABCC8 INS
24 insulinomatosis and diabetes mellitus 10.1 ABCC8 INS
25 acute insulin response 10.1 ABCC8 INS KCNJ11
26 maturity-onset diabetes of the young, type 1 10.1 ABCC8 INS KCNJ11
27 maturity-onset diabetes of the young, type 13 10.1 ABCC8 INS KCNJ11
28 endocrine pancreas disease 10.1 ABCC8 INS KCNJ11
29 pancreas disease 10.1 ABCC8 INS KCNJ11
30 pancreatic agenesis 10.1 ABCC8 INS KCNJ11
31 diabetes mellitus, transient neonatal, 1 10.1 ABCC8 INS KCNJ11
32 hyperinsulinemic hypoglycemia 10.1 ABCC8 INS KCNJ11
33 hypoglycemia 10.1 ABCC8 INS KCNJ11
34 glucose metabolism disease 10.0 ABCC8 INS KCNJ11
35 acquired metabolic disease 10.0 ABCC8 INS KCNJ11
36 fanconi-bickel syndrome 10.0 ABCC8 INS
37 diabetes mellitus, permanent neonatal 10.0 ABCC8 INS KCNJ11 SLC19A2
38 hyperinsulinism 10.0 ABCC8 INS KCNJ11
39 neonatal diabetes mellitus 10.0 ABCC8 INS KCNJ11 SLC19A2
40 hyperglycemia 9.9 ABCC8 INS KCNJ11
41 maturity-onset diabetes of the young, type 10 9.9 INS KCNJ11

Graphical network of the top 20 diseases related to Thiamine-Responsive Megaloblastic Anemia Syndrome:



Diseases related to Thiamine-Responsive Megaloblastic Anemia Syndrome

Symptoms & Phenotypes for Thiamine-Responsive Megaloblastic Anemia Syndrome

Human phenotypes related to Thiamine-Responsive Megaloblastic Anemia Syndrome:

60 33 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000819
2 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
3 pallor 60 33 hallmark (90%) Very frequent (99-80%) HP:0000980
4 anorexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002039
5 paresthesia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003401
6 headache 60 33 hallmark (90%) Very frequent (99-80%) HP:0002315
7 diarrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0002014
8 lethargy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001254
9 megaloblastic anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001889
10 optic atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000648
11 thrombocytopenia 60 33 frequent (33%) Frequent (79-30%) HP:0001873
12 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
13 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635
14 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
15 visual loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0000572
16 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629
17 stroke 60 33 occasional (7.5%) Occasional (29-5%) HP:0001297
18 cardiac arrest 60 33 occasional (7.5%) Occasional (29-5%) HP:0001695
19 retinal dystrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000556
20 paroxysmal atrial tachycardia 60 33 occasional (7.5%) Occasional (29-5%) HP:0006671
21 seizures 33 occasional (7.5%) HP:0001250
22 ataxia 33 occasional (7.5%) HP:0001251
23 global developmental delay 33 occasional (7.5%) HP:0001263
24 gastroesophageal reflux 33 occasional (7.5%) HP:0002020
25 cryptorchidism 33 occasional (7.5%) HP:0000028
26 cardiomyopathy 33 occasional (7.5%) HP:0001638
27 situs inversus totalis 33 occasional (7.5%) HP:0001696
28 nystagmus 33 HP:0000639
29 aminoaciduria 33 HP:0003355
30 arrhythmia 33 HP:0011675
31 hoarse voice 33 HP:0001609
32 abnormality of the skin 33 HP:0000951
33 cone/cone-rod dystrophy 33 HP:0000548
34 retinal degeneration 33 HP:0000546
35 thiamine-responsive megaloblastic anemia 33 HP:0004860
36 sideroblastic anemia 33 HP:0001924

Symptoms via clinical synopsis from OMIM:

58
Endocrine Features:
diabetes mellitus

Cardiovascular Heart:
congenital heart defects (in some patients)
ventricular septal defect (in some patients)
atrial septal defect (uncommon)
conduction defects (in some patients)
arrhythmias (in some patients)
more
Growth Height:
short stature (in some patients)

Neurologic Central Nervous System:
seizures (uncommon)
developmental delay (uncommon)
stroke (uncommon)
ataxia (uncommon)

Abdomen Gastrointestinal:
gastroesophageal reflux (uncommon)

Laboratory Abnormalities:
serum thiamine is normal

Hematology:
thrombocytopenia
megaloblastic anemia
sideroblastic anemia

Head And Neck Eyes:
optic atrophy (in some patients)
nystagmus (in some patients)
maculopathy (uncommon)
cone-rod dystrophy (uncommon)
retinal degeneration (in some patients)
more
Head And Neck Ears:
sensorineural deafness

Abdomen:
situs inversus (uncommon)

Genitourinary Internal Genitalia Male:
cryptorchidism (uncommon)

Clinical features from OMIM:

249270

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.4 ABCC8 CLPP CX3CL1 DEK INS KCNJ11

Drugs & Therapeutics for Thiamine-Responsive Megaloblastic Anemia Syndrome

Search Clinical Trials , NIH Clinical Center for Thiamine-Responsive Megaloblastic Anemia Syndrome

Cochrane evidence based reviews: thiamine responsive megaloblastic anemia syndrome

Genetic Tests for Thiamine-Responsive Megaloblastic Anemia Syndrome

Genetic tests related to Thiamine-Responsive Megaloblastic Anemia Syndrome:

# Genetic test Affiliating Genes
1 Megaloblastic Anemia, Thiamine-Responsive, with Diabetes Mellitus and Sensorineural Deafness 30 SLC19A2

Anatomical Context for Thiamine-Responsive Megaloblastic Anemia Syndrome

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

42
Skin, Pancreas, Eye

Publications for Thiamine-Responsive Megaloblastic Anemia Syndrome

Articles related to Thiamine-Responsive Megaloblastic Anemia Syndrome:

(show all 45)
# Title Authors Year
1
Arrhythmia in thiamine responsive megaloblastic anemia syndrome. ( 30511554 )
2018
2
Recurrent Stroke in a Child with TRMA Syndrome and SLC19A2 Gene Mutation. ( 29379566 )
2018
3
Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome. ( 29450569 )
2018
4
Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation. ( 28076318 )
2017
5
Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report. ( 28504500 )
2017
6
Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified. ( 25707023 )
2015
7
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report. ( 24357267 )
2014
8
Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2. ( 24520986 )
2014
9
Cochlear implant and thiamine-responsive megaloblastic anemia syndrome. ( 24658560 )
2014
10
RNA-methyltransferase TrmA is a dual-specific enzyme responsible for C5-methylation of uridine in both tmRNA and tRNA. ( 23603891 )
2013
11
Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations. ( 22576805 )
2012
12
Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent. ( 22837935 )
2012
13
Thiamine-responsive megaloblastic anemia syndrome: a novel mutation. ( 22876572 )
2012
14
Megaloblastic anaemia in infancy or early childhood and diabetes as leading symptoms of the TRMA syndrome. ( 22525690 )
2012
15
Thiamine-responsive megaloblastic anemia syndrome with atrial standstill: a case report. ( 21285901 )
2011
16
Thiamine-responsive megaloblastic anemia syndrome. ( 20835854 )
2010
17
A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome. ( 18614593 )
2009
18
Thiamine responsive megaloblastic anemia syndrome. ( 19347672 )
2009
19
Thiamine-responsive megaloblastic anemia syndrome: long term follow-up. ( 19619756 )
2009
20
Structure of a TrmA-RNA complex: A consensus RNA fold contributes to substrate selectivity and catalysis in m5U methyltransferases. ( 18451029 )
2008
21
Amino acid residues of the Escherichia coli tRNA(m5U54)methyltransferase (TrmA) critical for stability, covalent binding of tRNA and enzymatic activity. ( 17459887 )
2007
22
Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome. ( 14994241 )
2004
23
Defective RNA ribose synthesis in fibroblasts from patients with thiamine-responsive megaloblastic anemia (TRMA). ( 12893755 )
2003
24
Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome. ( 14627317 )
2003
25
TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report and review of the literature. ( 15016149 )
2002
26
Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport. ( 11358373 )
2001
27
Slc19a2: cloning and characterization of the murine thiamin transporter cDNA and genomic sequence, the orthologue of the human TRMA gene. ( 11386850 )
2001
28
Acute ischemic stroke in a young woman with the thiamine-responsive megaloblastic anemia syndrome. ( 10720020 )
2000
29
Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy. ( 11135496 )
2000
30
Thiamine, beta-cell function and peripheral glucose utilization in thiamine-responsive megaloblastic anemia (TRMA) syndrome. ( 11194926 )
2000
31
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. ( 10978358 )
2000
32
Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23. ( 10066388 )
1999
33
Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts. ( 10074490 )
1999
34
The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. ( 10391222 )
1999
35
Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. ( 10391223 )
1999
36
Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. ( 10391221 )
1999
37
Long-term follow-up of diabetes in two patients with thiamine-responsive megaloblastic anemia syndrome. ( 9538968 )
1998
38
Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity. ( 9856490 )
1998
39
Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping. ( 9399900 )
1997
40
Physical map of the oxyR-trmA region (minute 89.3) of the Escherichia coli chromosome. ( 1447162 )
1992
41
The trmA promoter has regulatory features and sequence elements in common with the rRNA P1 promoter family of Escherichia coli. ( 1999392 )
1991
42
Genetic organization and transcription from the gene (trmA) responsible for synthesis of tRNA (uracil-5)-methyltransferase by Escherichia coli. ( 2999071 )
1985
43
Cloning and restriction mapping of the trmA gene coding for transfer ribonucleic acid (5-methyluridine)-methyltransferase in Escherichia coli K-12. ( 6247318 )
1980
44
Transductional mapping of gene trmA responsible for the production of 5-methyluridine in transfer ribonucleic acid of Escherichia coli. ( 1100617 )
1975
45
Behaviour of phenylalanyl-tRMA from Halobacterium cutirubrum on BD-cellulose. ( 11945398 )
1970

Variations for Thiamine-Responsive Megaloblastic Anemia Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Thiamine-Responsive Megaloblastic Anemia Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 SLC19A2 p.Gly172Asp VAR_010248 rs28937595
2 SLC19A2 p.Asp93His VAR_010249
3 SLC19A2 p.Ser143Phe VAR_010250 rs761957186

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

6 (show top 50) (show all 105)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC19A2 NM_006996.2(SLC19A2): c.484C> T (p.Arg162Ter) single nucleotide variant Pathogenic rs74315373 GRCh37 Chromosome 1, 169446716: 169446716
2 SLC19A2 NM_006996.2(SLC19A2): c.484C> T (p.Arg162Ter) single nucleotide variant Pathogenic rs74315373 GRCh38 Chromosome 1, 169477478: 169477478
3 SLC19A2 SLC19A2, 1-BP DEL, 724C deletion Pathogenic
4 SLC19A2 NM_006996.2(SLC19A2): c.515G> A (p.Gly172Asp) single nucleotide variant Pathogenic rs28937595 GRCh37 Chromosome 1, 169446685: 169446685
5 SLC19A2 NM_006996.2(SLC19A2): c.515G> A (p.Gly172Asp) single nucleotide variant Pathogenic rs28937595 GRCh38 Chromosome 1, 169477447: 169477447
6 SLC19A2 NM_006996.2(SLC19A2): c.750G> A (p.Trp250Ter) single nucleotide variant Pathogenic rs74315374 GRCh37 Chromosome 1, 169446450: 169446450
7 SLC19A2 NM_006996.2(SLC19A2): c.750G> A (p.Trp250Ter) single nucleotide variant Pathogenic rs74315374 GRCh38 Chromosome 1, 169477212: 169477212
8 SLC19A2 SLC19A2, 1-BP DEL, 885T deletion Pathogenic
9 SLC19A2 SLC19A2, 2-BP DEL, 1147GT deletion Pathogenic
10 SLC19A2 SLC19A2, 1-BP INS, 242A insertion Pathogenic
11 SLC19A2 SLC19A2, 2-BP DEL, 429TT deletion Pathogenic
12 SLC19A2 NM_006996.2(SLC19A2): c.1074G> A (p.Trp358Ter) single nucleotide variant Pathogenic rs74315375 GRCh37 Chromosome 1, 169438031: 169438031
13 SLC19A2 NM_006996.2(SLC19A2): c.1074G> A (p.Trp358Ter) single nucleotide variant Pathogenic rs74315375 GRCh38 Chromosome 1, 169468793: 169468793
14 SLC19A2 NM_006996.2(SLC19A2): c.152C> T (p.Pro51Leu) single nucleotide variant Pathogenic rs121908540 GRCh37 Chromosome 1, 169454853: 169454853
15 SLC19A2 NM_006996.2(SLC19A2): c.152C> T (p.Pro51Leu) single nucleotide variant Pathogenic rs121908540 GRCh38 Chromosome 1, 169485615: 169485615
16 SLC19A2 NM_006996.2(SLC19A2): c.-4C> T single nucleotide variant Benign rs2072757 GRCh37 Chromosome 1, 169455008: 169455008
17 SLC19A2 NM_006996.2(SLC19A2): c.-4C> T single nucleotide variant Benign rs2072757 GRCh38 Chromosome 1, 169485770: 169485770
18 SLC19A2 NM_006996.2(SLC19A2): c.1080T> C (p.Thr360=) single nucleotide variant Benign/Likely benign rs3737682 GRCh37 Chromosome 1, 169438025: 169438025
19 SLC19A2 NM_006996.2(SLC19A2): c.1080T> C (p.Thr360=) single nucleotide variant Benign/Likely benign rs3737682 GRCh38 Chromosome 1, 169468787: 169468787
20 SLC19A2 NM_006996.2(SLC19A2): c.1215G> A (p.Thr405=) single nucleotide variant Benign/Likely benign rs61049753 GRCh37 Chromosome 1, 169437890: 169437890
21 SLC19A2 NM_006996.2(SLC19A2): c.1215G> A (p.Thr405=) single nucleotide variant Benign/Likely benign rs61049753 GRCh38 Chromosome 1, 169468652: 169468652
22 SLC19A2 NM_006996.2(SLC19A2): c.1322T> C (p.Ile441Thr) single nucleotide variant Benign/Likely benign rs17847484 GRCh37 Chromosome 1, 169437392: 169437392
23 SLC19A2 NM_006996.2(SLC19A2): c.1322T> C (p.Ile441Thr) single nucleotide variant Benign/Likely benign rs17847484 GRCh38 Chromosome 1, 169468154: 169468154
24 SLC19A2 NM_006996.2(SLC19A2): c.*1543_*1546delCTGT deletion Uncertain significance rs886045522 GRCh38 Chromosome 1, 169464303: 169464306
25 SLC19A2 NM_006996.2(SLC19A2): c.*1543_*1546delCTGT deletion Uncertain significance rs886045522 GRCh37 Chromosome 1, 169433541: 169433544
26 SLC19A2 NM_006996.2(SLC19A2): c.*1523A> G single nucleotide variant Uncertain significance rs886045523 GRCh38 Chromosome 1, 169464326: 169464326
27 SLC19A2 NM_006996.2(SLC19A2): c.*1523A> G single nucleotide variant Uncertain significance rs886045523 GRCh37 Chromosome 1, 169433564: 169433564
28 SLC19A2 NM_006996.2(SLC19A2): c.*898_*899delAA deletion Uncertain significance rs886045525 GRCh38 Chromosome 1, 169464950: 169464951
29 SLC19A2 NM_006996.2(SLC19A2): c.*898_*899delAA deletion Uncertain significance rs886045525 GRCh37 Chromosome 1, 169434188: 169434189
30 SLC19A2 NM_006996.2(SLC19A2): c.*638G> A single nucleotide variant Uncertain significance rs757466309 GRCh37 Chromosome 1, 169434449: 169434449
31 SLC19A2 NM_006996.2(SLC19A2): c.*638G> A single nucleotide variant Uncertain significance rs757466309 GRCh38 Chromosome 1, 169465211: 169465211
32 SLC19A2 NM_006996.2(SLC19A2): c.1436T> C (p.Met479Thr) single nucleotide variant Uncertain significance rs374046494 GRCh37 Chromosome 1, 169435145: 169435145
33 SLC19A2 NM_006996.2(SLC19A2): c.1436T> C (p.Met479Thr) single nucleotide variant Uncertain significance rs374046494 GRCh38 Chromosome 1, 169465907: 169465907
34 SLC19A2 NM_006996.2(SLC19A2): c.845T> C (p.Leu282Pro) single nucleotide variant Uncertain significance rs886045529 GRCh37 Chromosome 1, 169439387: 169439387
35 SLC19A2 NM_006996.2(SLC19A2): c.845T> C (p.Leu282Pro) single nucleotide variant Uncertain significance rs886045529 GRCh38 Chromosome 1, 169470149: 169470149
36 SLC19A2 NM_006996.2(SLC19A2): c.796G> A (p.Val266Met) single nucleotide variant Conflicting interpretations of pathogenicity rs75099879 GRCh37 Chromosome 1, 169446404: 169446404
37 SLC19A2 NM_006996.2(SLC19A2): c.796G> A (p.Val266Met) single nucleotide variant Conflicting interpretations of pathogenicity rs75099879 GRCh38 Chromosome 1, 169477166: 169477166
38 SLC19A2 NM_006996.2(SLC19A2): c.205-15_205-14dupTT duplication Uncertain significance rs755410874 GRCh37 Chromosome 1, 169447009: 169447010
39 SLC19A2 NM_006996.2(SLC19A2): c.205-15_205-14dupTT duplication Uncertain significance rs755410874 GRCh38 Chromosome 1, 169477771: 169477772
40 SLC19A2 NM_006996.2(SLC19A2): c.-114C> T single nucleotide variant Uncertain significance rs145285893 GRCh38 Chromosome 1, 169485880: 169485880
41 SLC19A2 NM_006996.2(SLC19A2): c.-114C> T single nucleotide variant Uncertain significance rs145285893 GRCh37 Chromosome 1, 169455118: 169455118
42 SLC19A2 NM_006996.2(SLC19A2): c.-163G> T single nucleotide variant Uncertain significance rs886045533 GRCh38 Chromosome 1, 169485929: 169485929
43 SLC19A2 NM_006996.2(SLC19A2): c.-163G> T single nucleotide variant Uncertain significance rs886045533 GRCh37 Chromosome 1, 169455167: 169455167
44 SLC19A2 NM_006996.2(SLC19A2): c.*1905_*1908delAATA deletion Uncertain significance rs745730912 GRCh38 Chromosome 1, 169463941: 169463944
45 SLC19A2 NM_006996.2(SLC19A2): c.*1905_*1908delAATA deletion Uncertain significance rs745730912 GRCh37 Chromosome 1, 169433179: 169433182
46 SLC19A2 NM_006996.2(SLC19A2): c.*1814G> A single nucleotide variant Likely benign rs12091844 GRCh38 Chromosome 1, 169464035: 169464035
47 SLC19A2 NM_006996.2(SLC19A2): c.*1814G> A single nucleotide variant Likely benign rs12091844 GRCh37 Chromosome 1, 169433273: 169433273
48 SLC19A2 NM_006996.2(SLC19A2): c.*1588T> G single nucleotide variant Uncertain significance rs886045521 GRCh38 Chromosome 1, 169464261: 169464261
49 SLC19A2 NM_006996.2(SLC19A2): c.*1588T> G single nucleotide variant Uncertain significance rs886045521 GRCh37 Chromosome 1, 169433499: 169433499
50 SLC19A2 NM_006996.2(SLC19A2): c.*967A> G single nucleotide variant Benign rs16862199 GRCh38 Chromosome 1, 169464882: 169464882

Expression for Thiamine-Responsive Megaloblastic Anemia Syndrome

Search GEO for disease gene expression data for Thiamine-Responsive Megaloblastic Anemia Syndrome.

Pathways for Thiamine-Responsive Megaloblastic Anemia Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.31 ABCC8 INS KCNJ11
2 10.78 ABCC8 INS KCNJ11
3 10.18 SLC19A1 SLC19A2 SLC19A3

GO Terms for Thiamine-Responsive Megaloblastic Anemia Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 inward rectifying potassium channel GO:0008282 8.62 ABCC8 KCNJ11

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

# Name GO ID Score Top Affiliating Genes
1 RNA methylation GO:0001510 9.46 TRMT2A TRMT2B
2 mitotic recombination GO:0006312 9.43 RAD51 RAD52
3 folic acid transport GO:0015884 9.4 SLC19A1 SLC19A2
4 thiamine-containing compound metabolic process GO:0042723 9.37 SLC19A2 SLC19A3
5 DNA recombinase assembly GO:0000730 9.32 RAD51 RAD52
6 thiamine transmembrane transport GO:0071934 9.26 SLC19A2 SLC19A3
7 thiamine transport GO:0015888 9.16 SLC19A2 SLC19A3
8 vitamin transport GO:0051180 9.13 SLC19A1 SLC19A2 SLC19A3
9 vitamin transmembrane transport GO:0035461 8.8 SLC19A1 SLC19A2 SLC19A3

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

# Name GO ID Score Top Affiliating Genes
1 RNA methyltransferase activity GO:0008173 9.32 TRMT2A TRMT2B
2 folic acid transmembrane transporter activity GO:0008517 9.16 SLC19A1 SLC19A2
3 ATP-activated inward rectifier potassium channel activity GO:0015272 8.96 KCNJ11
4 thiamine transmembrane transporter activity GO:0015234 8.96 SLC19A2 SLC19A3
5 vitamin transmembrane transporter activity GO:0090482 8.8 SLC19A1 SLC19A2 SLC19A3

Sources for Thiamine-Responsive Megaloblastic Anemia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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