MCID: THM002
MIFTS: 41

Thiamine-Responsive Megaloblastic Anemia Syndrome

Categories: Genetic diseases, Rare diseases, Ear diseases, Metabolic diseases, Endocrine diseases, Fetal diseases, Blood 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 24 25 59 75 13 55
Rogers Syndrome 57 12 53 25 59 75
Trma 57 12 53 25 59 75
Thiamine-Responsive Myelodysplasia 57 12 53 25 75
Megaloblastic Anemia, Thiamine-Responsive, with Diabetes Mellitus and Sensorineural Deafness 57 29 6 40
Thiamine-Responsive Anemia Syndrome 57 12 53 75
Thiamine Metabolism Dysfunction Syndrome 1 57 12 75
Thiamine-Responsive Megaloblastic Anemia 37 6 73
Thmd1 57 12 75
Thiamine-Responsive Megaloblastic Anemia with Diabetes Mellitus and Sensorineural Deafness 12 59
Megaloblastic Anemia Thiamine-Responsive with Diabetes Mellitus and Sensorineural Deafness 53 75
Thiamine Responsive Megaloblastic Anemia Syndrome 53 44
Thiamine Metabolism Dysfunction Syndrome 1 ; Thmd1 57

Characteristics:

Orphanet epidemiological data:

59
thiamine-responsive megaloblastic anemia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age;

OMIM:

57
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:

32
thiamine-responsive megaloblastic anemia syndrome:
Inheritance autosomal recessive inheritance


Classifications:



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).

MalaCards based summary : Thiamine-Responsive Megaloblastic Anemia Syndrome, also known as rogers syndrome, is related to thiamine metabolism dysfunction syndrome 2 and anemia, congenital dyserythropoietic, type iii. 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 Metabolism of water-soluble vitamins and cofactors and Vitamin digestion and absorption. Affiliated tissues include heart and skin, and related phenotypes are sensorineural hearing impairment and retinal dystrophy

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 : 53 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 : 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)

UniProtKB/Swiss-Prot : 75 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 11)
# Related Disease Score Top Affiliating Genes
1 thiamine metabolism dysfunction syndrome 2 29.8 SLC19A1 SLC19A2
2 anemia, congenital dyserythropoietic, type iii 11.3
3 diabetes and deafness, maternally inherited 10.9
4 microcephaly, amish type 10.9
5 thiamine metabolism dysfunction syndrome 4 10.9
6 thiamine metabolism dysfunction syndrome 5 10.9
7 megaloblastic anemia 10.7
8 cone-rod dystrophy 2 10.1
9 ebstein anomaly 10.1
10 patent ductus arteriosus 1 10.1
11 atrial standstill 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

Symptoms via clinical synopsis from OMIM:

57
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
Head And Neck Ears:
sensorineural deafness

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
Growth Height:
short stature (in some patients)

Abdomen:
situs inversus (uncommon)

GenitourinaryInternal GenitaliaMale:
cryptorchidism (uncommon)


Clinical features from OMIM:

249270

Human phenotypes related to Thiamine-Responsive Megaloblastic Anemia Syndrome:

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
2 retinal dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000556
3 visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000572
4 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
5 diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000819
6 pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000980
7 lethargy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001254
8 stroke 59 32 occasional (7.5%) Occasional (29-5%) HP:0001297
9 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
10 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
11 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
12 cardiac arrest 59 32 occasional (7.5%) Occasional (29-5%) HP:0001695
13 thrombocytopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001873
14 megaloblastic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001889
15 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
16 anorexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002039
17 headache 59 32 hallmark (90%) Very frequent (99-80%) HP:0002315
18 paresthesia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003401
19 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
20 paroxysmal atrial tachycardia 59 32 occasional (7.5%) Occasional (29-5%) HP:0006671
21 cryptorchidism 32 occasional (7.5%) HP:0000028
22 retinal degeneration 32 HP:0000546
23 cone/cone-rod dystrophy 32 HP:0000548
24 nystagmus 32 HP:0000639
25 abnormality of the skin 32 HP:0000951
26 seizures 32 occasional (7.5%) HP:0001250
27 ataxia 32 occasional (7.5%) HP:0001251
28 global developmental delay 32 occasional (7.5%) HP:0001263
29 hoarse voice 32 HP:0001609
30 cardiomyopathy 32 occasional (7.5%) HP:0001638
31 situs inversus totalis 32 occasional (7.5%) HP:0001696
32 sideroblastic anemia 32 HP:0001924
33 gastroesophageal reflux 32 occasional (7.5%) HP:0002020
34 aminoaciduria 32 HP:0003355
35 thiamine-responsive megaloblastic anemia 32 HP:0004860
36 arrhythmia 32 HP:0011675

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:

41
Heart, Skin

Publications for Thiamine-Responsive Megaloblastic Anemia Syndrome

Articles related to Thiamine-Responsive Megaloblastic Anemia Syndrome:

(show all 23)
# Title Authors Year
1
Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report. ( 28504500 )
2017
2
Thiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified. ( 25707023 )
2015
3
Cochlear implant and thiamine-responsive megaloblastic anemia syndrome. ( 24658560 )
2014
4
Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2. ( 24520986 )
2014
5
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report. ( 24357267 )
2013
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: a novel mutation. ( 22876572 )
2012
8
Thiamine-responsive megaloblastic anemia syndrome with atrial standstill: a case report. ( 21285901 )
2011
9
Thiamine-responsive megaloblastic anemia syndrome. ( 20835854 )
2010
10
Thiamine-responsive megaloblastic anemia syndrome: long term follow-up. ( 19619756 )
2009
11
A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome. ( 18614593 )
2009
12
Thiamine responsive megaloblastic anemia syndrome. ( 19347672 )
2009
13
Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome. ( 14994241 )
2004
14
Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome. ( 14627317 )
2003
15
Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport. ( 11358373 )
2001
16
Acute ischemic stroke in a young woman with the thiamine-responsive megaloblastic anemia syndrome. ( 10720020 )
2000
17
Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy. ( 11135496 )
2000
18
Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23. ( 10066388 )
1999
19
Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts. ( 10074490 )
1999
20
Long-term follow-up of diabetes in two patients with thiamine-responsive megaloblastic anemia syndrome. ( 9538968 )
1998
21
Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity. ( 9856490 )
1998
22
Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping. ( 9399900 )
1997
23
Thiamine-Responsive Megaloblastic Anemia Syndrome ( 20301459 )
1993

Variations for Thiamine-Responsive Megaloblastic Anemia Syndrome

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

75
# 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 93)
# 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.1322T> C (p.Ile441Thr) single nucleotide variant Benign/Likely benign rs17847484 GRCh37 Chromosome 1, 169437392: 169437392
17 SLC19A2 NM_006996.2(SLC19A2): c.1322T> C (p.Ile441Thr) single nucleotide variant Benign/Likely benign rs17847484 GRCh38 Chromosome 1, 169468154: 169468154
18 SLC19A2 NM_006996.2(SLC19A2): c.*1543_*1546delCTGT deletion Uncertain significance rs886045522 GRCh38 Chromosome 1, 169464303: 169464306
19 SLC19A2 NM_006996.2(SLC19A2): c.*1543_*1546delCTGT deletion Uncertain significance rs886045522 GRCh37 Chromosome 1, 169433541: 169433544
20 SLC19A2 NM_006996.2(SLC19A2): c.*1523A> G single nucleotide variant Uncertain significance rs886045523 GRCh37 Chromosome 1, 169433564: 169433564
21 SLC19A2 NM_006996.2(SLC19A2): c.*1523A> G single nucleotide variant Uncertain significance rs886045523 GRCh38 Chromosome 1, 169464326: 169464326
22 SLC19A2 NM_006996.2(SLC19A2): c.*898_*899delAA deletion Uncertain significance rs886045525 GRCh37 Chromosome 1, 169434188: 169434189
23 SLC19A2 NM_006996.2(SLC19A2): c.*898_*899delAA deletion Uncertain significance rs886045525 GRCh38 Chromosome 1, 169464950: 169464951
24 SLC19A2 NM_006996.2(SLC19A2): c.*638G> A single nucleotide variant Uncertain significance rs757466309 GRCh37 Chromosome 1, 169434449: 169434449
25 SLC19A2 NM_006996.2(SLC19A2): c.*638G> A single nucleotide variant Uncertain significance rs757466309 GRCh38 Chromosome 1, 169465211: 169465211
26 SLC19A2 NM_006996.2(SLC19A2): c.1436T> C (p.Met479Thr) single nucleotide variant Uncertain significance rs374046494 GRCh37 Chromosome 1, 169435145: 169435145
27 SLC19A2 NM_006996.2(SLC19A2): c.1436T> C (p.Met479Thr) single nucleotide variant Uncertain significance rs374046494 GRCh38 Chromosome 1, 169465907: 169465907
28 SLC19A2 NM_006996.2(SLC19A2): c.845T> C (p.Leu282Pro) single nucleotide variant Uncertain significance rs886045529 GRCh37 Chromosome 1, 169439387: 169439387
29 SLC19A2 NM_006996.2(SLC19A2): c.845T> C (p.Leu282Pro) single nucleotide variant Uncertain significance rs886045529 GRCh38 Chromosome 1, 169470149: 169470149
30 SLC19A2 NM_006996.2(SLC19A2): c.796G> A (p.Val266Met) single nucleotide variant Conflicting interpretations of pathogenicity rs75099879 GRCh37 Chromosome 1, 169446404: 169446404
31 SLC19A2 NM_006996.2(SLC19A2): c.796G> A (p.Val266Met) single nucleotide variant Conflicting interpretations of pathogenicity rs75099879 GRCh38 Chromosome 1, 169477166: 169477166
32 SLC19A2 NM_006996.2(SLC19A2): c.205-15_205-14dupTT duplication Uncertain significance rs781575576 GRCh37 Chromosome 1, 169447009: 169447010
33 SLC19A2 NM_006996.2(SLC19A2): c.205-15_205-14dupTT duplication Uncertain significance rs781575576 GRCh38 Chromosome 1, 169477771: 169477772
34 SLC19A2 NM_006996.2(SLC19A2): c.-114C> T single nucleotide variant Uncertain significance rs145285893 GRCh38 Chromosome 1, 169485880: 169485880
35 SLC19A2 NM_006996.2(SLC19A2): c.-114C> T single nucleotide variant Uncertain significance rs145285893 GRCh37 Chromosome 1, 169455118: 169455118
36 SLC19A2 NM_006996.2(SLC19A2): c.-163G> T single nucleotide variant Uncertain significance rs886045533 GRCh38 Chromosome 1, 169485929: 169485929
37 SLC19A2 NM_006996.2(SLC19A2): c.-163G> T single nucleotide variant Uncertain significance rs886045533 GRCh37 Chromosome 1, 169455167: 169455167
38 SLC19A2 NM_006996.2(SLC19A2): c.*1905_*1908delAATA deletion Uncertain significance rs745730912 GRCh38 Chromosome 1, 169463941: 169463944
39 SLC19A2 NM_006996.2(SLC19A2): c.*1905_*1908delAATA deletion Uncertain significance rs745730912 GRCh37 Chromosome 1, 169433179: 169433182
40 SLC19A2 NM_006996.2(SLC19A2): c.*1814G> A single nucleotide variant Likely benign rs12091844 GRCh38 Chromosome 1, 169464035: 169464035
41 SLC19A2 NM_006996.2(SLC19A2): c.*1814G> A single nucleotide variant Likely benign rs12091844 GRCh37 Chromosome 1, 169433273: 169433273
42 SLC19A2 NM_006996.2(SLC19A2): c.*1588T> G single nucleotide variant Uncertain significance rs886045521 GRCh38 Chromosome 1, 169464261: 169464261
43 SLC19A2 NM_006996.2(SLC19A2): c.*1588T> G single nucleotide variant Uncertain significance rs886045521 GRCh37 Chromosome 1, 169433499: 169433499
44 SLC19A2 NM_006996.2(SLC19A2): c.*967A> G single nucleotide variant Benign rs16862199 GRCh37 Chromosome 1, 169434120: 169434120
45 SLC19A2 NM_006996.2(SLC19A2): c.*967A> G single nucleotide variant Benign rs16862199 GRCh38 Chromosome 1, 169464882: 169464882
46 SLC19A2 NM_006996.2(SLC19A2): c.1486A> G (p.Thr496Ala) single nucleotide variant Uncertain significance rs769397647 GRCh37 Chromosome 1, 169435095: 169435095
47 SLC19A2 NM_006996.2(SLC19A2): c.1486A> G (p.Thr496Ala) single nucleotide variant Uncertain significance rs769397647 GRCh38 Chromosome 1, 169465857: 169465857
48 SLC19A2 NM_006996.2(SLC19A2): c.639G> A (p.Lys213=) single nucleotide variant Conflicting interpretations of pathogenicity rs137970656 GRCh37 Chromosome 1, 169446561: 169446561
49 SLC19A2 NM_006996.2(SLC19A2): c.639G> A (p.Lys213=) single nucleotide variant Conflicting interpretations of pathogenicity rs137970656 GRCh38 Chromosome 1, 169477323: 169477323
50 SLC19A2 NM_006996.2(SLC19A2): c.487A> T (p.Ser163Cys) single nucleotide variant Uncertain significance rs548333207 GRCh37 Chromosome 1, 169446713: 169446713

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

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.26 SLC19A1 SLC19A2
2 vitamin transport GO:0051180 9.16 SLC19A1 SLC19A2
3 folic acid transport GO:0015884 8.96 SLC19A1 SLC19A2
4 vitamin transmembrane transport GO:0035461 8.62 SLC19A1 SLC19A2

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.16 SLC19A1 SLC19A2
2 folic acid transmembrane transporter activity GO:0008517 8.96 SLC19A1 SLC19A2
3 vitamin transmembrane transporter activity GO:0090482 8.62 SLC19A1 SLC19A2

Sources for Thiamine-Responsive Megaloblastic Anemia Syndrome

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