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 56 12 24 25 58 73 13 54 15
Rogers Syndrome 56 12 24 52 25 58 73
Trma 56 12 24 52 25 58 73
Thiamine-Responsive Myelodysplasia 56 12 52 25 73
Megaloblastic Anemia, Thiamine-Responsive, with Diabetes Mellitus and Sensorineural Deafness 56 29 6 39
Thiamine-Responsive Anemia Syndrome 56 12 52 73
Thiamine Metabolism Dysfunction Syndrome 1 56 12 73
Thiamine-Responsive Megaloblastic Anemia 36 6 71
Thmd1 56 12 73
Thiamine-Responsive Megaloblastic Anemia with Diabetes Mellitus and Sensorineural Deafness 12 58
Megaloblastic Anemia Thiamine-Responsive with Diabetes Mellitus and Sensorineural Deafness 52 73
Thiamine Responsive Megaloblastic Anemia Syndrome 52 43
Thiamine Metabolism Dysfunction Syndrome 1 ; Thmd1 56

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:

56
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

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). 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 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 Gene Expression and tRNA processing. Affiliated tissues include heart, skin and eye, and related phenotypes are diabetes mellitus and sensorineural hearing impairment

Disease Ontology : 12 An autosomal recessive disease 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.

NIH Rare Diseases : 52 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 : 56 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)

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 : 73 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 57)
# Related Disease Score Top Affiliating Genes
1 thiamine metabolism dysfunction syndrome 2 32.1 SLC19A3 SLC19A2 SLC19A1
2 beriberi 30.7 SLC19A3 SLC19A2
3 monogenic diabetes 30.4 WFS1 SLC19A2
4 anemia, congenital dyserythropoietic, type iii 11.6
5 diabetes and deafness, maternally inherited 11.2
6 microcephaly, amish type 11.2
7 thiamine metabolism dysfunction syndrome 4 11.2
8 thiamine metabolism dysfunction syndrome 5 11.2
9 megaloblastic anemia 10.9
10 branchiootic syndrome 1 10.9
11 deficiency anemia 10.9
12 autosomal recessive disease 10.8
13 sensorineural hearing loss 10.6
14 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
15 thrombocytopenia 10.5
16 wolfram syndrome 10.4
17 3-methylglutaconic aciduria, type iii 10.4
18 macrocytic anemia 10.4
19 diabetes mellitus 10.4
20 neutropenia 10.2
21 cone-rod dystrophy 2 10.2
22 hashimoto thyroiditis 10.2
23 wolfram syndrome 1 10.2
24 ebstein anomaly 10.2
25 retinitis pigmentosa 10.2
26 patent ductus arteriosus 1 10.2
27 diabetes mellitus, ketosis-prone 10.2
28 neuroretinitis 10.2
29 glucose intolerance 10.2
30 heart septal defect 10.2
31 atrial heart septal defect 10.2
32 mood disorder 10.2
33 retinitis 10.2
34 thyroiditis 10.2
35 fundus dystrophy 10.2
36 atrial standstill 10.2
37 inherited retinal disorder 10.2
38 refractory anemia 10.2
39 alstrom syndrome 10.2
40 cone dystrophy 10.2
41 microcephaly 10.2
42 situs inversus 10.2
43 cataract 10.2
44 mitochondrial disorders 10.2
45 dextrocardia with situs inversus 10.2
46 seizure disorder 10.2
47 mongolian spot 10.2 WDR4 SNORD55
48 mitochondrial dna depletion syndrome 9 10.2 SLC19A3 SLC19A2 SLC19A1
49 wernicke encephalopathy 10.2 SLC19A3 SLC19A2
50 pancytopenia 10.1

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 diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002014
8 lethargy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001254
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 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
14 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
15 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
16 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
17 stroke 58 31 occasional (7.5%) Occasional (29-5%) HP:0001297
18 cardiac arrest 58 31 occasional (7.5%) Occasional (29-5%) HP:0001695
19 retinal dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000556
20 paroxysmal atrial tachycardia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006671
21 seizures 31 occasional (7.5%) HP:0001250
22 ataxia 31 occasional (7.5%) HP:0001251
23 global developmental delay 31 occasional (7.5%) HP:0001263
24 cryptorchidism 31 occasional (7.5%) HP:0000028
25 gastroesophageal reflux 31 occasional (7.5%) HP:0002020
26 cardiomyopathy 31 occasional (7.5%) HP:0001638
27 situs inversus totalis 31 occasional (7.5%) HP:0001696
28 nystagmus 31 HP:0000639
29 retinal degeneration 31 HP:0000546
30 aminoaciduria 31 HP:0003355
31 arrhythmia 31 HP:0011675
32 hoarse voice 31 HP:0001609
33 abnormality of the skin 31 HP:0000951
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:

56
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

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, Skin, Eye, Brain, Thyroid

Publications for Thiamine-Responsive Megaloblastic Anemia Syndrome

Articles related to Thiamine-Responsive Megaloblastic Anemia Syndrome:

(show top 50) (show all 146)
# Title Authors PMID Year
1
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. 61 24 56 6
10978358 2000
2
Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping. 61 24 56 6
9399900 1997
3
Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome. 54 61 24 6
14994241 2004
4
Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. 61 56 6
10391221 1999
5
Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts. 54 61 24 56
10074490 1999
6
Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update. 61 24 56
19643445 2009
7
Acute ischemic stroke in a young woman with the thiamine-responsive megaloblastic anemia syndrome. 61 24 56
10720020 2000
8
Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. 61 24 6
10391223 1999
9
Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity. 54 61 56
9856490 1998
10
Thiamine-responsive myelodysplasia. 24 56
9734663 1998
11
Thiamine transport by erythrocytes and ghosts in thiamine-responsive megaloblastic anaemia. 24 56
1326679 1992
12
Thiamine-responsive anemia in DIDMOAD syndrome. 24 56
2537896 1989
13
Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity. 24 56
4045602 1985
14
Thiamine-dependent beriberi in the "thiamine-responsive anemia syndrome". 24 56
6472386 1984
15
Thiamin-responsive megaloblastic anaemia: a disorder of thiamin transport? 24 56
6090807 1984
16
Thiamine responsive anaemia: a study of two further cases. 24 56
6175336 1982
17
Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness. 54 61 24
19817279 2009
18
Thiamine-Responsive Megaloblastic Anemia Syndrome 61 6
20301459 2003
19
The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. 61 6
10391222 1999
20
Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23. 61 56
10066388 1999
21
Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin-responsive megaloblastic anaemia. 61 56
7707690 1994
22
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. 61 24
28004468 2017
23
Thiamine responsive megaloblastic anemia: the puzzling phenotype. 61 24
24249281 2014
24
Cochlear implant and thiamine-responsive megaloblastic anemia syndrome. 61 24
24658560 2014
25
Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia. 61 24
23454484 2013
26
Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations. 61 24
22576805 2012
27
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia. 61 24
22369132 2012
28
Thiamine-responsive megaloblastic anemia syndrome: a novel mutation. 61 24
22876572 2012
29
Thiamine-responsive megaloblastic anemia syndrome with atrial standstill: a case report. 61 24
21285901 2011
30
Does early treatment prevent deafness in thiamine-responsive megaloblastic anaemia syndrome? 61 24
21448333 2011
31
Thiamine-responsive megaloblastic anemia syndrome: long term follow-up. 61 24
19619756 2009
32
Thiamine withdrawal can lead to diabetic ketoacidosis in thiamine responsive megaloblastic anemia: report of two siblings. 61 24
18556972 2008
33
Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype. 61 24
16642288 2006
34
Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families. 61 24
16373304 2006
35
Defective RNA ribose synthesis in fibroblasts from patients with thiamine-responsive megaloblastic anemia (TRMA). 61 24
12893755 2003
36
Male infertility and thiamine-dependent erythroid hypoplasia in mice lacking thiamine transporter Slc19a2. 61 24
14567973 2003
37
Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome. 61 24
14627317 2003
38
TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report and review of the literature. 61 24
15016149 2002
39
Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice. 61 24
12393806 2002
40
Functional role of specific amino acid residues in human thiamine transporter SLC19A2: mutational analysis. 61 24
12065289 2002
41
A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome. 61 24
11380424 2001
42
Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport. 61 24
11358373 2001
43
Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy. 61 24
11135496 2000
44
The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families. 61 24
10874303 2000
45
Long-term follow-up of diabetes in two patients with thiamine-responsive megaloblastic anemia syndrome. 61 24
9538968 1998
46
Studies on thiamine metabolism in thiamine-responsive megaloblastic anaemia. 56
2540004 1989
47
Thiamine-responsive inborn errors of metabolism. 56
3930844 1985
48
Thiamine-responsive megaloblastic anemia, sensorineural deafness, and diabetes mellitus: A new syndrome? 56
671156 1978
49
Impaired intestinal vitamin B1 (thiamin) uptake in thiamin transporter-2-deficient mice. 24
19879271 2010
50
A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome. 54 61
18614593 2009

Variations for Thiamine-Responsive Megaloblastic Anemia Syndrome

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

6 (show top 50) (show all 57) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC19A2 NM_006996.3(SLC19A2):c.484C>T (p.Arg162Ter)SNV Pathogenic 5955 rs74315373 1:169446716-169446716 1:169477478-169477478
2 SLC19A2 NM_006996.3(SLC19A2):c.725del (p.Pro242fs)deletion Pathogenic 5956 1:169446475-169446475 1:169477237-169477237
3 SLC19A2 NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp)SNV Pathogenic 5957 rs28937595 1:169446685-169446685 1:169477447-169477447
4 SLC19A2 NM_006996.3(SLC19A2):c.750G>A (p.Trp250Ter)SNV Pathogenic 5958 rs74315374 1:169446450-169446450 1:169477212-169477212
5 SLC19A2 NM_006996.3(SLC19A2):c.885del (p.Leu296fs)deletion Pathogenic 5959 1:169439347-169439347 1:169470109-169470109
6 SLC19A2 NM_006996.3(SLC19A2):c.1146_1147TG[1] (p.Val383fs)short repeat Pathogenic 5960 1:169437956-169437957 1:169468718-169468719
7 SLC19A2 NM_006996.3(SLC19A2):c.242dup (p.Tyr81Ter)duplication Pathogenic 5961 1:169446957-169446958 1:169477719-169477720
8 SLC19A2 NM_006996.3(SLC19A2):c.429_430del (p.Ile145fs)deletion Pathogenic 5962 1:169446770-169446771 1:169477532-169477533
9 SLC19A2 NM_006996.3(SLC19A2):c.1074G>A (p.Trp358Ter)SNV Pathogenic 5963 rs74315375 1:169438031-169438031 1:169468793-169468793
10 SLC19A2 NM_006996.3(SLC19A2):c.152C>T (p.Pro51Leu)SNV Pathogenic 5964 rs121908540 1:169454853-169454853 1:169485615-169485615
11 SLC19A2 NM_006996.3(SLC19A2):c.1082G>A (p.Trp361Ter)SNV Pathogenic 492807 rs1553211899 1:169438023-169438023 1:169468785-169468785
12 SLC19A2 NM_006996.3(SLC19A2):c.428C>T (p.Ser143Phe)SNV Pathogenic 492806 rs761957186 1:169446772-169446772 1:169477534-169477534
13 SLC19A2 NM_006996.3(SLC19A2):c.584_585del (p.Leu195fs)deletion Pathogenic 599229 rs763099442 1:169446615-169446616 1:169477377-169477378
14 SLC19A2 NM_006996.3(SLC19A2):c.64_70del (p.Thr22fs)deletion Pathogenic 599230 rs1557894839 1:169454935-169454941 1:169485697-169485703
15 SLC19A2 NM_006996.3(SLC19A2):c.807+2T>GSNV Likely pathogenic 432105 rs1234256852 1:169446391-169446391 1:169477153-169477153
16 SLC19A2 NM_006996.3(SLC19A2):c.795C>T (p.Pro265=)SNV Conflicting interpretations of pathogenicity 293526 rs201489069 1:169446405-169446405 1:169477167-169477167
17 SLC19A2 NM_006996.3(SLC19A2):c.561G>T (p.Leu187=)SNV Conflicting interpretations of pathogenicity 293528 rs150548640 1:169446639-169446639 1:169477401-169477401
18 SLC19A2 NM_006996.3(SLC19A2):c.796G>A (p.Val266Met)SNV Conflicting interpretations of pathogenicity 293525 rs75099879 1:169446404-169446404 1:169477166-169477166
19 SLC19A2 NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala)SNV Conflicting interpretations of pathogenicity 293521 rs769397647 1:169435095-169435095 1:169465857-169465857
20 SLC19A2 NM_006996.3(SLC19A2):c.639G>A (p.Lys213=)SNV Conflicting interpretations of pathogenicity 293527 rs137970656 1:169446561-169446561 1:169477323-169477323
21 SLC19A2 NM_006996.3(SLC19A2):c.-12C>GSNV Conflicting interpretations of pathogenicity 293536 rs772886076 1:169455016-169455016 1:169485778-169485778
22 SLC19A2 NM_006996.3(SLC19A2):c.*627C>TSNV Uncertain significance 293517 rs886045527 1:169434460-169434460 1:169465222-169465222
23 SLC19A2 NM_006996.3(SLC19A2):c.*390T>GSNV Uncertain significance 293518 rs886045528 1:169434697-169434697 1:169465459-169465459
24 SLC19A2 NM_006996.3(SLC19A2):c.*255A>TSNV Uncertain significance 293519 rs562829928 1:169434832-169434832 1:169465594-169465594
25 SLC19A2 NM_006996.3(SLC19A2):c.807+6C>GSNV Uncertain significance 293524 rs201700843 1:169446387-169446387 1:169477149-169477149
26 SLC19A2 NM_006996.3(SLC19A2):c.*1588T>GSNV Uncertain significance 293508 rs886045521 1:169433499-169433499 1:169464261-169464261
27 SLC19A2 NM_006996.3(SLC19A2):c.487A>T (p.Ser163Cys)SNV Uncertain significance 293529 rs548333207 1:169446713-169446713 1:169477475-169477475
28 SLC19A2 NM_006996.3(SLC19A2):c.205-25dupduplication Uncertain significance 293532 rs755410874 1:169447008-169447009 1:169477770-169477771
29 SLC19A2 NM_006996.3(SLC19A2):c.-2G>ASNV Uncertain significance 293535 rs886045531 1:169455006-169455006 1:169485768-169485768
30 SLC19A2 NM_006996.3(SLC19A2):c.-103G>ASNV Uncertain significance 293537 rs886045532 1:169455107-169455107 1:169485869-169485869
31 SLC19A2 NM_001319667.1(SLC19A2):c.-196C>ASNV Uncertain significance 293540 rs72542444 1:169455200-169455200 1:169485962-169485962
32 SLC19A2 NM_006996.3(SLC19A2):c.*1524C>TSNV Uncertain significance 293510 rs79478264 1:169433563-169433563 1:169464325-169464325
33 SLC19A2 NM_006996.3(SLC19A2):c.*712dupduplication Uncertain significance 293515 rs886045526 1:169434374-169434375 1:169465136-169465137
34 SLC19A2 NM_006996.3(SLC19A2):c.205-25_205-24dupduplication Uncertain significance 293533 rs755410874 1:169447008-169447009 1:169477770-169477771
35 SLC19A2 NM_006996.3(SLC19A2):c.-114C>TSNV Uncertain significance 293538 rs145285893 1:169455118-169455118 1:169485880-169485880
36 SLC19A2 NM_006996.3(SLC19A2):c.-163G>TSNV Uncertain significance 293539 rs886045533 1:169455167-169455167 1:169485929-169485929
37 SLC19A2 NM_006996.3(SLC19A2):c.*1901_*1904AATA[1]short repeat Uncertain significance 293506 rs745730912 1:169433179-169433182 1:169463941-169463944
38 SLC19A2 NM_006996.3(SLC19A2):c.*1539_*1542CTGT[1]short repeat Uncertain significance 293509 rs886045522 1:169433541-169433544 1:169464303-169464306
39 SLC19A2 NM_006996.3(SLC19A2):c.*1523A>GSNV Uncertain significance 293511 rs886045523 1:169433564-169433564 1:169464326-169464326
40 SLC19A2 NM_006996.3(SLC19A2):c.*898_*899deldeletion Uncertain significance 293514 rs886045525 1:169434188-169434189 1:169464950-169464951
41 SLC19A2 NM_006996.3(SLC19A2):c.*638G>ASNV Uncertain significance 293516 rs757466309 1:169434449-169434449 1:169465211-169465211
42 SLC19A2 NM_006996.3(SLC19A2):c.1436T>C (p.Met479Thr)SNV Uncertain significance 293522 rs374046494 1:169435145-169435145 1:169465907-169465907
43 SLC19A2 NM_006996.3(SLC19A2):c.845T>C (p.Leu282Pro)SNV Uncertain significance 293523 rs886045529 1:169439387-169439387 1:169470149-169470149
44 SLC19A2 NM_006996.3(SLC19A2):c.212A>G (p.Asn71Ser)SNV Uncertain significance 293531 rs149595229 1:169446988-169446988 1:169477750-169477750
45 SLC19A2 NM_006996.3(SLC19A2):c.283C>T (p.Leu95Phe)SNV Uncertain significance 293530 rs759321228 1:169446917-169446917 1:169477679-169477679
46 SLC19A2 NM_006996.3(SLC19A2):c.10C>T (p.Pro4Ser)SNV Uncertain significance 293534 rs886045530 1:169454995-169454995 1:169485757-169485757
47 SLC19A2 NM_006996.3(SLC19A2):c.*1493G>ASNV Uncertain significance 293512 rs886045524 1:169433594-169433594 1:169464356-169464356
48 SLC19A2 NM_006996.3(SLC19A2):c.688A>T (p.Ile230Phe)SNV Uncertain significance 631575 rs770374931 1:169446512-169446512 1:169477274-169477274
49 SLC19A2 NM_006996.3(SLC19A2):c.808-1G>ASNV Uncertain significance 631574 rs1557889336 1:169439425-169439425 1:169470187-169470187
50 SLC19A2 NM_006996.3(SLC19A2):c.*1814G>ASNV Likely benign 293507 rs12091844 1:169433273-169433273 1:169464035-169464035

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

73
# 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 15)
# Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.85 TRMT61A TRMT5 TRMT2B TRMT112 TRMT1 TRMO
2 tRNA modification GO:0006400 9.8 WDR4 TRMT61A TRMT6 TRMT1 NSUN2 METTL1
3 tRNA methylation GO:0030488 9.7 WDR4 TRMT61A TRMT6 TRMT5 TRMT112 TRMT1
4 mRNA methylation GO:0080009 9.55 TRMT61A TRMT6
5 RNA modification GO:0009451 9.54 PUS7 PUS10
6 vitamin transport GO:0051180 9.54 SLC19A3 SLC19A2 SLC19A1
7 folic acid transport GO:0015884 9.52 SLC19A2 SLC19A1
8 thiamine-containing compound metabolic process GO:0042723 9.51 SLC19A3 SLC19A2
9 vitamin transmembrane transport GO:0035461 9.5 SLC19A3 SLC19A2 SLC19A1
10 tRNA pseudouridine synthesis GO:0031119 9.49 PUS7 PUS10
11 thiamine transmembrane transport GO:0071934 9.48 SLC19A3 SLC19A2
12 thiamine transport GO:0015888 9.46 SLC19A3 SLC19A2
13 tRNA (guanine-N7)-methylation GO:0106004 9.43 WDR4 METTL1
14 RNA (guanine-N7)-methylation GO:0036265 9.4 WDR4 METTL1
15 tRNA processing GO:0008033 9.36 WDR4 TRMT61A TRMT6 TRMT5 TRMT2B 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 10.05 TRMT6 TRMT1 TARBP1 PUS7 PUS10 NSUN2
2 transferase activity GO:0016740 9.97 TRMT61A TRMT5 TRMT2B TRMT1 TRMO TARBP1
3 tRNA binding GO:0000049 9.61 TRMT1 NSUN2 METTL1
4 pseudouridine synthase activity GO:0009982 9.49 PUS7 PUS10
5 RNA methyltransferase activity GO:0008173 9.48 TRMT2B TARBP1
6 tRNA methyltransferase activity GO:0008175 9.46 TRMT5 FTSJ1
7 folic acid transmembrane transporter activity GO:0008517 9.4 SLC19A2 SLC19A1
8 tRNA (adenine-N1-)-methyltransferase activity GO:0016429 9.37 TRMT61A TRMT6
9 methyltransferase activity GO:0008168 9.28 TRMT61A TRMT5 TRMT2B TRMT1 TRMO TARBP1
10 thiamine transmembrane transporter activity GO:0015234 9.26 SLC19A3 SLC19A2
11 tRNA (guanine-N7-)-methyltransferase activity GO:0008176 9.16 WDR4 METTL1
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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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