TRMA
MCID: THM002
MIFTS: 50

Thiamine-Responsive Megaloblastic Anemia Syndrome (TRMA)

Categories: Blood diseases, Ear diseases, Endocrine 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 57 12 25 43 58 72 13 54 15
Rogers Syndrome 57 12 25 20 43 58 72
Trma 57 12 25 20 43 58 72
Thiamine-Responsive Myelodysplasia 57 12 20 43 72
Megaloblastic Anemia, Thiamine-Responsive, with Diabetes Mellitus and Sensorineural Deafness 57 29 6 39
Thiamine-Responsive Anemia Syndrome 57 12 20 72
Thiamine Metabolism Dysfunction Syndrome 1 57 12 72
Thiamine-Responsive Megaloblastic Anemia 36 6 70
Thmd1 57 12 72
Thiamine-Responsive Megaloblastic Anemia with Diabetes Mellitus and Sensorineural Deafness 12 58
Megaloblastic Anemia Thiamine-Responsive with Diabetes Mellitus and Sensorineural Deafness 20 72
Thiamine Responsive Megaloblastic Anemia Syndrome 20 44
Thiamine-Responsive Megaloblastic Anemia with Diabetes Mellitus and Sensorineural Hearing Loss 58
Thiamine-Responsive Megaloblastic Anaemia with Diabetes Mellitus and Sensorineural Deafness 12
Thiamine Metabolism Dysfunction Syndrome 1 ; Thmd1 57
Thiamine-Responsive Megaloblastic Anaemia Syndrome 12
Thiamine-Responsive Anaemia Syndrome 12

Characteristics:

Orphanet epidemiological data:

58
thiamine-responsive megaloblastic anemia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
thiamine-responsive megaloblastic anemia syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Rare endocrine diseases
Developmental anomalies during embryogenesis
Rare haematological diseases


Summaries for Thiamine-Responsive Megaloblastic Anemia Syndrome

MedlinePlus Genetics : 43 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).People with thiamine-responsive megaloblastic anemia syndrome develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss)during early childhood. It remains unclear whether thiamine treatment can improve hearing or prevent hearing loss.Diabetes becomes apparent in affected individuals sometime between infancy and adolescence. Although these individuals develop diabetes during childhood, they do not have the form of the disease that develops most often in children, called type 1 (autoimmune) diabetes. People with thiamine-responsive megaloblastic anemia syndrome usually require insulin to treat their diabetes. In some cases, treatment with thiamine can reduce the amount of insulin a person needs.Some individuals with thiamine-responsive megaloblastic anemia syndrome develop optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain. Heart and blood vessel (cardiovascular) problems such as heart rhythm abnormalities and heart defects have also been reported in some people with this syndrome.

MalaCards based summary : Thiamine-Responsive Megaloblastic Anemia Syndrome, also known as rogers syndrome, is related to megaloblastic anemia and thiamine metabolism dysfunction syndrome 2. 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 Gene Expression and tRNA processing. Affiliated tissues include heart, and related phenotypes are diabetes mellitus and sensorineural hearing impairment

Disease Ontology : 12 A syndrome that is 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, and that has material basis in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24.

GARD : 20 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.

OMIM® : 57 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) (Updated 05-Apr-2021)

KEGG : 36 Thiamine-responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is a rare autosomal recessive inherited disorder characterized by megaloblastic anemia, diabetes mellitus, and progressive sensorineural deafness, due to mutations in SLC19A2, encoding a high-affinity thiamine transporter protein. In addition to the cardinal components, other findings are also reported in TRMA syndrome including congenital heart disease, arrhythmias, cardiomyopathy, retinal degeneration, optic atrophy, situs inversus, aminoaciduria, and stroke.

UniProtKB/Swiss-Prot : 72 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: NBK1282

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 top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 megaloblastic anemia 31.7 SLC19A3 SLC19A2 SLC19A1
2 thiamine metabolism dysfunction syndrome 2 31.7 SLC19A3 SLC19A2 SLC19A1
3 beriberi 30.7 SLC19A3 SLC19A2
4 anemia, congenital dyserythropoietic, type iii 11.4
5 diabetes and deafness, maternally inherited 11.0
6 microcephaly, amish type 10.9
7 thiamine metabolism dysfunction syndrome 4 10.9
8 thiamine metabolism dysfunction syndrome 5 10.9
9 branchiootic syndrome 1 10.9
10 deficiency anemia 10.9
11 autosomal recessive disease 10.8
12 sensorineural hearing loss 10.6
13 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
14 type 1 diabetes mellitus 10.4
15 wolfram syndrome 10.4
16 3-methylglutaconic aciduria, type iii 10.4
17 thrombocytopenia 10.4
18 macrocytic anemia 10.4
19 diabetes mellitus 10.4
20 dry beriberi 10.3 SLC19A3 SLC19A2
21 wet beriberi 10.3 SLC19A3 SLC19A2
22 maturity-onset diabetes of the young 10.2
23 cone-rod dystrophy 2 10.2
24 hashimoto thyroiditis 10.2
25 wolfram syndrome 1 10.2
26 ebstein anomaly 10.2
27 retinitis pigmentosa 10.2
28 patent ductus arteriosus 1 10.2
29 diabetes mellitus, ketosis-prone 10.2
30 ifap syndrome 2 10.2
31 neuroretinitis 10.2
32 glucose intolerance 10.2
33 heart septal defect 10.2
34 atrial heart septal defect 10.2
35 mood disorder 10.2
36 retinitis 10.2
37 thyroiditis 10.2
38 fundus dystrophy 10.2
39 atrial standstill 10.2
40 inherited retinal disorder 10.2
41 refractory anemia 10.2
42 thiamine deficiency disease 10.2 SLC19A3 SLC19A2
43 folate malabsorption, hereditary 10.2 SLC19A3 SLC19A2 SLC19A1
44 wernicke encephalopathy 10.2 SLC19A3 SLC19A2
45 alstrom syndrome 10.2
46 stroke, ischemic 10.2
47 cone dystrophy 10.2
48 microcephaly 10.2
49 heart disease 10.2
50 congestive heart failure 10.2

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:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000819
2 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
3 pallor 58 31 hallmark (90%) Very frequent (99-80%) HP:0000980
4 anorexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002039
5 paresthesia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003401
6 headache 58 31 hallmark (90%) Very frequent (99-80%) HP:0002315
7 lethargy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001254
8 diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002014
9 megaloblastic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001889
10 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
11 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
12 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
13 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
14 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
15 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
16 stroke 58 31 occasional (7.5%) Occasional (29-5%) HP:0001297
17 retinal dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000556
18 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
19 cardiac arrest 58 31 occasional (7.5%) Occasional (29-5%) HP:0001695
20 paroxysmal atrial tachycardia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006671
21 ataxia 31 occasional (7.5%) HP:0001251
22 global developmental delay 31 occasional (7.5%) HP:0001263
23 gastroesophageal reflux 31 occasional (7.5%) HP:0002020
24 cryptorchidism 31 occasional (7.5%) HP:0000028
25 situs inversus totalis 31 occasional (7.5%) HP:0001696
26 cardiomyopathy 31 occasional (7.5%) HP:0001638
27 seizure 31 occasional (7.5%) HP:0001250
28 nystagmus 31 HP:0000639
29 aminoaciduria 31 HP:0003355
30 arrhythmia 31 HP:0011675
31 hoarse voice 31 HP:0001609
32 abnormality of the skin 31 HP:0000951
33 retinal degeneration 31 HP:0000546
34 cone/cone-rod dystrophy 31 HP:0000548
35 thiamine-responsive megaloblastic anemia 31 HP:0004860
36 sideroblastic anemia 31 HP:0001924

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Endocrine Features:
diabetes mellitus

Head And Neck Ears:
sensorineural deafness

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
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

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)

Abdomen:
situs inversus (uncommon)

Genitourinary Internal Genitalia Male:
cryptorchidism (uncommon)

Clinical features from OMIM®:

249270 (Updated 05-Apr-2021)

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 29 SLC19A2

Anatomical Context for Thiamine-Responsive Megaloblastic Anemia Syndrome

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

40
Heart

Publications for Thiamine-Responsive Megaloblastic Anemia Syndrome

Articles related to Thiamine-Responsive Megaloblastic Anemia Syndrome:

(show top 50) (show all 157)
# Title Authors PMID Year
1
Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update. 61 25 57 6
19643445 2009
2
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. 61 6 57 25
10978358 2000
3
Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping. 57 25 6 61
9399900 1997
4
Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome. 6 54 25 61
14994241 2004
5
Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. 61 57 6
10391221 1999
6
Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts. 61 54 25 57
10074490 1999
7
Functional role of specific amino acid residues in human thiamine transporter SLC19A2: mutational analysis. 25 6 61
12065289 2002
8
Acute ischemic stroke in a young woman with the thiamine-responsive megaloblastic anemia syndrome. 61 25 57
10720020 2000
9
Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. 61 6 25
10391223 1999
10
Lack of plasma membrane targeting of a G172D mutant thiamine transporter derived from Rogers syndrome family. 54 61 6
12435857 2002
11
Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity. 61 57 54
9856490 1998
12
Thiamine-responsive myelodysplasia. 57 25
9734663 1998
13
Thiamine transport by erythrocytes and ghosts in thiamine-responsive megaloblastic anaemia. 25 57
1326679 1992
14
Thiamine-responsive anemia in DIDMOAD syndrome. 25 57
2537896 1989
15
Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity. 57 25
4045602 1985
16
Thiamine-dependent beriberi in the "thiamine-responsive anemia syndrome". 25 57
6472386 1984
17
Thiamin-responsive megaloblastic anaemia: a disorder of thiamin transport? 57 25
6090807 1984
18
Thiamine responsive anaemia: a study of two further cases. 25 57
6175336 1982
19
Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness. 61 54 25
19817279 2009
20
Vitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulation. 6 61
17463047 2007
21
Thiamine transporter mutation: an example of monogenic diabetes mellitus. 6 61
17132746 2006
22
The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. 6 61
10391222 1999
23
Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23. 57 61
10066388 1999
24
Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin-responsive megaloblastic anaemia. 61 57
7707690 1994
25
First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G. 25 61
28004468 2017
26
Thiamine responsive megaloblastic anemia: the puzzling phenotype. 61 25
24249281 2014
27
Cochlear implant and thiamine-responsive megaloblastic anemia syndrome. 61 25
24658560 2014
28
Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia. 61 25
23454484 2013
29
Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations. 61 25
22576805 2012
30
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia. 25 61
22369132 2012
31
Thiamine-responsive megaloblastic anemia syndrome: a novel mutation. 61 25
22876572 2012
32
Thiamine-responsive megaloblastic anemia syndrome with atrial standstill: a case report. 25 61
21285901 2011
33
Does early treatment prevent deafness in thiamine-responsive megaloblastic anaemia syndrome? 25 61
21448333 2011
34
Thiamine-responsive megaloblastic anemia syndrome: long term follow-up. 61 25
19619756 2009
35
Thiamine withdrawal can lead to diabetic ketoacidosis in thiamine responsive megaloblastic anemia: report of two siblings. 25 61
18556972 2008
36
Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype. 25 61
16642288 2006
37
Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families. 25 61
16373304 2006
38
Defective RNA ribose synthesis in fibroblasts from patients with thiamine-responsive megaloblastic anemia (TRMA). 25 61
12893755 2003
39
Male infertility and thiamine-dependent erythroid hypoplasia in mice lacking thiamine transporter Slc19a2. 61 25
14567973 2003
40
Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome. 25 61
14627317 2003
41
TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report and review of the literature. 61 25
15016149 2002
42
Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice. 61 25
12393806 2002
43
A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome. 25 61
11380424 2001
44
Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport. 61 25
11358373 2001
45
Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy. 25 61
11135496 2000
46
The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families. 61 25
10874303 2000
47
Long-term follow-up of diabetes in two patients with thiamine-responsive megaloblastic anemia syndrome. 25 61
9538968 1998
48
Studies on thiamine metabolism in thiamine-responsive megaloblastic anaemia. 57
2540004 1989
49
Thiamine-responsive inborn errors of metabolism. 57
3930844 1985
50
Thiamine-responsive megaloblastic anemia, sensorineural deafness, and diabetes mellitus: A new syndrome? 57
671156 1978

Variations for Thiamine-Responsive Megaloblastic Anemia Syndrome

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

6 (show top 50) (show all 122)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC19A2 NM_006996.3(SLC19A2):c.484C>T (p.Arg162Ter) SNV Pathogenic 5955 rs74315373 GRCh37: 1:169446716-169446716
GRCh38: 1:169477478-169477478
2 SLC19A2 NM_006996.3(SLC19A2):c.750G>A (p.Trp250Ter) SNV Pathogenic 5958 rs74315374 GRCh37: 1:169446450-169446450
GRCh38: 1:169477212-169477212
3 SLC19A2 NM_006996.3(SLC19A2):c.1074G>A (p.Trp358Ter) SNV Pathogenic 5963 rs74315375 GRCh37: 1:169438031-169438031
GRCh38: 1:169468793-169468793
4 SLC19A2 NM_006996.3(SLC19A2):c.152C>T (p.Pro51Leu) SNV Pathogenic 5964 rs121908540 GRCh37: 1:169454853-169454853
GRCh38: 1:169485615-169485615
5 SLC19A2 NM_006996.3(SLC19A2):c.428C>T (p.Ser143Phe) SNV Pathogenic 492806 rs761957186 GRCh37: 1:169446772-169446772
GRCh38: 1:169477534-169477534
6 SLC19A2 NM_006996.3(SLC19A2):c.1082G>A (p.Trp361Ter) SNV Pathogenic 492807 rs1553211899 GRCh37: 1:169438023-169438023
GRCh38: 1:169468785-169468785
7 SLC19A2 NM_006996.3(SLC19A2):c.584_585del (p.Leu195fs) Deletion Pathogenic 599229 rs763099442 GRCh37: 1:169446615-169446616
GRCh38: 1:169477377-169477378
8 SLC19A2 NM_006996.3(SLC19A2):c.64_70del (p.Thr22fs) Deletion Pathogenic 599230 rs1557894839 GRCh37: 1:169454935-169454941
GRCh38: 1:169485697-169485703
9 SLC19A2 NM_006996.3(SLC19A2):c.725del (p.Pro242fs) Deletion Pathogenic 5956 rs1571537544 GRCh37: 1:169446475-169446475
GRCh38: 1:169477237-169477237
10 SLC19A2 NM_006996.3(SLC19A2):c.885del (p.Leu296fs) Deletion Pathogenic 5959 rs1571532822 GRCh37: 1:169439347-169439347
GRCh38: 1:169470109-169470109
11 SLC19A2 NM_006996.3(SLC19A2):c.429_430del (p.Ile145fs) Deletion Pathogenic 5962 rs1571537879 GRCh37: 1:169446770-169446771
GRCh38: 1:169477532-169477533
12 SLC19A2 NM_006996.3(SLC19A2):c.1146_1147TG[1] (p.Val383fs) Microsatellite Pathogenic 5960 rs1401027751 GRCh37: 1:169437956-169437957
GRCh38: 1:169468718-169468719
13 SLC19A2 NM_006996.3(SLC19A2):c.242dup (p.Tyr81Ter) Duplication Pathogenic 5961 rs752104654 GRCh37: 1:169446957-169446958
GRCh38: 1:169477719-169477720
14 SLC19A2 NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp) SNV Pathogenic 5957 rs28937595 GRCh37: 1:169446685-169446685
GRCh38: 1:169477447-169477447
15 SLC19A2 NM_006996.3(SLC19A2):c.807+2T>G SNV Likely pathogenic 432105 rs1234256852 GRCh37: 1:169446391-169446391
GRCh38: 1:169477153-169477153
16 SLC19A2 NM_006996.3(SLC19A2):c.1014C>G (p.Ala338=) SNV Uncertain significance 510741 rs143780369 GRCh37: 1:169439218-169439218
GRCh38: 1:169469980-169469980
17 SLC19A2 NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala) SNV Uncertain significance 293521 rs769397647 GRCh37: 1:169435095-169435095
GRCh38: 1:169465857-169465857
18 SLC19A2 NM_006996.3(SLC19A2):c.639G>A (p.Lys213=) SNV Uncertain significance 293527 rs137970656 GRCh37: 1:169446561-169446561
GRCh38: 1:169477323-169477323
19 SLC19A2 NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala) SNV Uncertain significance 293521 rs769397647 GRCh37: 1:169435095-169435095
GRCh38: 1:169465857-169465857
20 SLC19A2 NM_006996.3(SLC19A2):c.639G>A (p.Lys213=) SNV Uncertain significance 293527 rs137970656 GRCh37: 1:169446561-169446561
GRCh38: 1:169477323-169477323
21 SLC19A2 NM_006996.3(SLC19A2):c.200G>C (p.Arg67Thr) SNV Uncertain significance 806266 rs369937650 GRCh37: 1:169454805-169454805
GRCh38: 1:169485567-169485567
22 SLC19A2 NM_006996.3(SLC19A2):c.124T>G (p.Phe42Val) SNV Uncertain significance 1034343 GRCh37: 1:169454881-169454881
GRCh38: 1:169485643-169485643
23 SLC19A2 NM_006996.3(SLC19A2):c.-12C>G SNV Uncertain significance 293536 rs772886076 GRCh37: 1:169455016-169455016
GRCh38: 1:169485778-169485778
24 SLC19A2 NM_006996.3(SLC19A2):c.796G>A (p.Val266Met) SNV Uncertain significance 293525 rs75099879 GRCh37: 1:169446404-169446404
GRCh38: 1:169477166-169477166
25 SLC19A2 NM_006996.3(SLC19A2):c.561G>T (p.Leu187=) SNV Uncertain significance 293528 rs150548640 GRCh37: 1:169446639-169446639
GRCh38: 1:169477401-169477401
26 SLC19A2 NM_006996.3(SLC19A2):c.795C>T (p.Pro265=) SNV Uncertain significance 293526 rs201489069 GRCh37: 1:169446405-169446405
GRCh38: 1:169477167-169477167
27 SLC19A2 NM_006996.3(SLC19A2):c.-12C>G SNV Uncertain significance 293536 rs772886076 GRCh37: 1:169455016-169455016
GRCh38: 1:169485778-169485778
28 SLC19A2 NM_006996.3(SLC19A2):c.795C>T (p.Pro265=) SNV Uncertain significance 293526 rs201489069 GRCh37: 1:169446405-169446405
GRCh38: 1:169477167-169477167
29 SLC19A2 NM_001319667.1(SLC19A2):c.-196C>A SNV Uncertain significance 293540 rs72542444 GRCh37: 1:169455200-169455200
GRCh38: 1:169485962-169485962
30 SLC19A2 NM_001319667.1(SLC19A2):c.-196C>A SNV Uncertain significance 293540 rs72542444 GRCh37: 1:169455200-169455200
GRCh38: 1:169485962-169485962
31 SLC19A2 NM_006996.3(SLC19A2):c.-114C>T SNV Uncertain significance 293538 rs145285893 GRCh37: 1:169455118-169455118
GRCh38: 1:169485880-169485880
32 SLC19A2 NM_006996.3(SLC19A2):c.*255A>T SNV Uncertain significance 293519 rs562829928 GRCh37: 1:169434832-169434832
GRCh38: 1:169465594-169465594
33 SLC19A2 NM_006996.3(SLC19A2):c.*1524C>T SNV Uncertain significance 293510 rs79478264 GRCh37: 1:169433563-169433563
GRCh38: 1:169464325-169464325
34 SLC19A2 NM_006996.3(SLC19A2):c.-163G>T SNV Uncertain significance 293539 rs886045533 GRCh37: 1:169455167-169455167
GRCh38: 1:169485929-169485929
35 SLC19A2 NM_006996.3(SLC19A2):c.1436T>C (p.Met479Thr) SNV Uncertain significance 293522 rs374046494 GRCh37: 1:169435145-169435145
GRCh38: 1:169465907-169465907
36 SLC19A2 NM_006996.3(SLC19A2):c.283C>T (p.Leu95Phe) SNV Uncertain significance 293530 rs759321228 GRCh37: 1:169446917-169446917
GRCh38: 1:169477679-169477679
37 SLC19A2 NM_006996.3(SLC19A2):c.*1349T>C SNV Uncertain significance 875949 GRCh37: 1:169433738-169433738
GRCh38: 1:169464500-169464500
38 SLC19A2 NM_006996.3(SLC19A2):c.*1246T>G SNV Uncertain significance 875950 GRCh37: 1:169433841-169433841
GRCh38: 1:169464603-169464603
39 SLC19A2 NM_006996.3(SLC19A2):c.*1186A>G SNV Uncertain significance 875951 GRCh37: 1:169433901-169433901
GRCh38: 1:169464663-169464663
40 SLC19A2 NM_006996.3(SLC19A2):c.793C>T (p.Pro265Ser) SNV Uncertain significance 876016 GRCh37: 1:169446407-169446407
GRCh38: 1:169477169-169477169
41 SLC19A2 NM_006996.3(SLC19A2):c.518C>G (p.Ser173Cys) SNV Uncertain significance 876017 GRCh37: 1:169446682-169446682
GRCh38: 1:169477444-169477444
42 SLC19A2 NM_006996.3(SLC19A2):c.287G>A (p.Arg96His) SNV Uncertain significance 876018 GRCh37: 1:169446913-169446913
GRCh38: 1:169477675-169477675
43 SLC19A2 NM_006996.3(SLC19A2):c.*658T>C SNV Uncertain significance 876936 GRCh37: 1:169434429-169434429
GRCh38: 1:169465191-169465191
44 SLC19A2 NM_006996.3(SLC19A2):c.*440T>C SNV Uncertain significance 876937 GRCh37: 1:169434647-169434647
GRCh38: 1:169465409-169465409
45 SLC19A2 NM_006996.3(SLC19A2):c.*174C>G SNV Uncertain significance 876938 GRCh37: 1:169434913-169434913
GRCh38: 1:169465675-169465675
46 SLC19A2 NM_006996.3(SLC19A2):c.180G>T (p.Pro60=) SNV Uncertain significance 876996 GRCh37: 1:169454825-169454825
GRCh38: 1:169485587-169485587
47 SLC19A2 NM_006996.3(SLC19A2):c.42G>T (p.Ala14=) SNV Uncertain significance 876997 GRCh37: 1:169454963-169454963
GRCh38: 1:169485725-169485725
48 SLC19A2 NM_006996.3(SLC19A2):c.30G>A (p.Arg10=) SNV Uncertain significance 876998 GRCh37: 1:169454975-169454975
GRCh38: 1:169485737-169485737
49 SLC19A2 NM_006996.3(SLC19A2):c.808-1G>A SNV Uncertain significance 631574 rs1557889336 GRCh37: 1:169439425-169439425
GRCh38: 1:169470187-169470187
50 SLC19A2 NM_006996.3(SLC19A2):c.688A>T (p.Ile230Phe) SNV Uncertain significance 631575 rs770374931 GRCh37: 1:169446512-169446512
GRCh38: 1:169477274-169477274

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

72
# 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

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

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 tRNA (m1A) methyltransferase complex GO:0031515 8.62 TRMT61A TRMT6

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.9 TRMT61A TRMT5 TRMT2B TRMT112 TRMT11 TRMT1
2 tRNA modification GO:0006400 9.86 TRUB1 TRMT61A TRMT6 TRMT1 NSUN2 METTL1
3 tRNA methylation GO:0030488 9.73 TRMT61A TRMT6 TRMT5 TRMT2B TRMT112 TRMT11
4 RNA methylation GO:0001510 9.61 TRMT2B NSUN2 FTSJ1
5 mRNA methylation GO:0080009 9.58 TRMT61A TRMT6 NSUN2
6 pseudouridine synthesis GO:0001522 9.54 TRUB1 PUS10
7 vitamin transport GO:0051180 9.54 SLC19A3 SLC19A2 SLC19A1
8 RNA modification GO:0009451 9.52 TRUB1 PUS10
9 folic acid transport GO:0015884 9.51 SLC19A2 SLC19A1
10 vitamin transmembrane transport GO:0035461 9.5 SLC19A3 SLC19A2 SLC19A1
11 thiamine-containing compound metabolic process GO:0042723 9.49 SLC19A3 SLC19A2
12 thiamine transmembrane transport GO:0071934 9.48 SLC19A3 SLC19A2
13 thiamine transport GO:0015888 9.46 SLC19A3 SLC19A2
14 tRNA processing GO:0008033 9.4 TRMT61A TRMT6 TRMT5 TRMT2B TRMT11 TRMT1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 10.02 TRUB1 TRMT6 TRMT11 TRMT1 TRIR TARBP1
2 transferase activity GO:0016740 10.02 TRMT61A TRMT5 TRMT2B TRMT11 TRMT1 TRMO
3 tRNA binding GO:0000049 9.56 TRMT11 TRMT1 NSUN2 METTL1
4 pseudouridine synthase activity GO:0009982 9.51 TRUB1 PUS10
5 tRNA methyltransferase activity GO:0008175 9.49 TRMT5 FTSJ1
6 folic acid transmembrane transporter activity GO:0008517 9.48 SLC19A2 SLC19A1
7 tRNA (adenine-N1-)-methyltransferase activity GO:0016429 9.46 TRMT61A TRMT6
8 thiamine transmembrane transporter activity GO:0015234 9.43 SLC19A3 SLC19A2
9 tRNA (guanine-N2-)-methyltransferase activity GO:0004809 9.4 TRMT11 TRMT1
10 RNA methyltransferase activity GO:0008173 9.33 TRMT2B TARBP1 FTSJ1
11 methyltransferase activity GO:0008168 9.32 TRMT61A TRMT5 TRMT2B TRMT11 TRMT1 TRMO
12 vitamin transmembrane transporter activity GO:0090482 9.13 SLC19A3 SLC19A2 SLC19A1

Sources for Thiamine-Responsive Megaloblastic Anemia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....