SIFD
MCID: SDR009
MIFTS: 45

Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic...

MalaCards integrated aliases for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay:

Name: Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay 57 12 72 29 6 15 39 70
Sifd 57 12 72
Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome 58
Sifd Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in neonatal period or early infancy
immunodeficiency is progressive
death may occur in the first decade


HPO:

31
sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset childhood onset neonatal onset


Classifications:

Orphanet: 58  
Rare haematological diseases
Rare immunological diseases


Summaries for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic...

OMIM® : 57 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndromic disorder characterized by onset of severe sideroblastic anemia in the neonatal period or infancy. Affected individuals show delayed psychomotor development with variable neurodegeneration. Recurrent periodic fevers without an infectious etiology occur throughout infancy and childhood; immunologic work-up shows B-cell lymphopenia and hypogammaglobulinemia. Other more variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy. Death in the first decade may occur (summary by Wiseman et al., 2013). (616084) (Updated 20-May-2021)

MalaCards based summary : Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay, also known as sifd, is related to sideroblastic anemia and trnt1 deficiency, and has symptoms including recurrent fevers An important gene associated with Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay is TRNT1 (TRNA Nucleotidyl Transferase 1), and among its related pathways/superpathways are Gene Expression and tRNA processing. Affiliated tissues include b cells, bone marrow and pancreas, and related phenotypes are growth delay and ataxia

Disease Ontology : 12 A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26.

UniProtKB/Swiss-Prot : 72 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: An autosomal recessive disease characterized by severe sideroblastic anemia with onset in the neonatal period or infancy, recurrent periodic fevers without an infectious etiology, B-cell lymphopenia and hypogammaglobulinemia. Affected individuals show delayed psychomotor development with variable neurodegeneration. Additional variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy.

Related Diseases for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic...

Diseases related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 sideroblastic anemia 30.5 YARS2 TRNT1 SFXN4 PUS1
2 trnt1 deficiency 12.1
3 myopathy, lactic acidosis, and sideroblastic anemia 3 10.3 YARS2 PUS1
4 drug-induced hearing loss 10.2 TRMU GTPBP3
5 immune deficiency disease 10.2
6 myopathy, lactic acidosis, and sideroblastic anemia 1 10.1 YARS2 PUS1
7 myopathy, lactic acidosis, and sideroblastic anemia 10.1 YARS2 TRMU PUS1
8 pearson marrow-pancreas syndrome 10.1 YARS2 TRMU PUS1
9 myopathy, lactic acidosis, and sideroblastic anemia 2 10.1 YARS2 PUS1 GTPBP3
10 deficiency anemia 10.1
11 queensland tick typhus 10.0 TRMU MTO1
12 neuroretinitis 10.0
13 retinitis 10.0
14 lymphopenia 10.0
15 deafness, aminoglycoside-induced 10.0 TRMU MRPL12 GTPBP3
16 combined oxidative phosphorylation deficiency 30 10.0 TRMT5 TRMT10C
17 mitochondrial oxidative phosphorylation disorder 10.0 MTO1 MTFMT
18 deafness, autosomal recessive 26 10.0 MTO1 GTPBP3
19 anemia, hypochromic microcytic, with iron overload 1 9.9
20 retinitis pigmentosa 9.9
21 branchiootic syndrome 1 9.9
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
23 hypochromic microcytic anemia 9.9
24 combined immunodeficiency 9.9
25 sensorineural hearing loss 9.9
26 b cell deficiency 9.9
27 agammaglobulinemia 9.9
28 severe combined immunodeficiency 9.9
29 cataract 9.9
30 arthritis 9.9
31 cerulean cataract 9.9
32 early myoclonic encephalopathy 9.7 TRMU TRIT1 MTO1 GTPBP3
33 mitochondrial encephalomyopathy 9.7 TRMU MTO1 GTPBP3
34 kearns-sayre syndrome 9.7 TRMU PUS1 MTO1
35 sting-associated vasculopathy with onset in infancy 9.7 RNASEH2C ADA2
36 combined oxidative phosphorylation deficiency 9.7 TRIT1 MTO1 MTFMT ELAC2
37 mitochondrial disorders 9.7 YARS2 TRMT10C PUS1
38 mitochondrial myopathy 9.7 YARS2 TRMU PUS1 MTO1 GTPBP3
39 combined oxidative phosphorylation deficiency 10 9.6 TRMU TRMT5 TRIT1 MTO1 GTPBP3
40 leigh syndrome 9.6 TRMU PUS1 MTO1 MTFMT GTPBP3
41 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.4 YARS2 TRMU TRIT1 MTO1 GTPBP3 ELAC2
42 lactic acidosis 9.2 YARS2 TRMU TRMT5 TRMT10C PUS1 MTO1
43 cardiomyopathy, infantile hypertrophic 8.6 TRMU TRMT5 TRMT10C TRIT1 PUS1 MTO1

Graphical network of the top 20 diseases related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay:



Diseases related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay

Symptoms & Phenotypes for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic...

Human phenotypes related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 growth delay 31 occasional (7.5%) HP:0001510
2 ataxia 31 very rare (1%) HP:0001251
3 global developmental delay 31 very rare (1%) HP:0001263
4 splenomegaly 31 very rare (1%) HP:0001744
5 sensorineural hearing impairment 31 very rare (1%) HP:0000407
6 aminoaciduria 31 very rare (1%) HP:0003355
7 nephrocalcinosis 31 very rare (1%) HP:0000121
8 rod-cone dystrophy 31 very rare (1%) HP:0000510
9 lactic acidosis 31 very rare (1%) HP:0003128
10 cardiomyopathy 31 very rare (1%) HP:0001638
11 cerebral atrophy 31 very rare (1%) HP:0002059
12 communicating hydrocephalus 31 very rare (1%) HP:0001334
13 brittle hair 31 very rare (1%) HP:0002299
14 hypochromic microcytic anemia 31 very rare (1%) HP:0004840
15 b lymphocytopenia 31 very rare (1%) HP:0010976
16 delayed cns myelination 31 very rare (1%) HP:0002188
17 seizure 31 very rare (1%) HP:0001250
18 sideroblastic anemia 31 very rare (1%) HP:0001924
19 delayed gross motor development 31 HP:0002194
20 generalized hypotonia 31 HP:0001290
21 muscular hypotonia of the trunk 31 HP:0008936
22 schistocytosis 31 HP:0001981
23 periodic fever 31 HP:0032323
24 decreased circulating antibody level 31 HP:0004313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Immunology:
recurrent fevers
hypogammaglobulinemia
b-cell lymphopenia
reduction of mature b cells

Hematology:
sideroblastic anemia
ineffective erythropoiesis
hypochromic, microcytic anemia

Cardiovascular Heart:
cardiomyopathy (in some patients)

Metabolic Features:
lactic acidosis (in some patients)

Growth Other:
growth retardation (in some patients)

Laboratory Abnormalities:
increased serum transferrin
aminoaciduria (in some patients)

Neurologic Central Nervous System:
hypotonia
seizures (in some patients)
delayed psychomotor development
cerebral atrophy (in some patients)
cerebellar signs (in some patients)
more
Skin Nails Hair Hair:
brittle hair (in some patients)

Head And Neck Eyes:
retinitis pigmentosa (in some patients)

Genitourinary Kidneys:
nephrocalcinosis (in some patients)

Head And Neck Ears:
sensorineural hearing impairment (in some patients)

Clinical features from OMIM®:

616084 (Updated 20-May-2021)

UMLS symptoms related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay:


recurrent fevers

Drugs & Therapeutics for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic...

Search Clinical Trials , NIH Clinical Center for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay

Genetic Tests for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic...

Genetic tests related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay:

# Genetic test Affiliating Genes
1 Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay 29 TRNT1

Anatomical Context for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic...

MalaCards organs/tissues related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay:

40
B Cells, Bone Marrow, Pancreas, Brain, Bone, Skin

Publications for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic...

Articles related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay:

(show all 20)
# Title Authors PMID Year
1
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). 6 57 61
25193871 2014
2
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors. 61 6
29358286 2018
3
In vitro studies of disease-linked variants of human tRNA nucleotidyltransferase reveal decreased thermal stability and altered catalytic activity. 6 61
29454993 2018
4
SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis. 6 61
29055896 2018
5
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. 6 61
26494905 2016
6
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). 57 61
23553769 2013
7
TRNT1 deficiency: clinical, biochemical and molecular genetic features. 6
27370603 2016
8
Sideroblastic anaemia, Immunodeficiency, Periodic Fevers, and developmental delay (SIFD) presenting as systemic inflammation with arthritis. 61
33493307 2021
9
Neutrophilic dermatosis: a new skin manifestation and novel pathogenic variant in a rare autoinflammatory disease. 61
33332575 2020
10
Corrigendum to "Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects" [Genes Dis 7 (1) (2020) 128-137]. 61
32885000 2020
11
Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant). 61
32592741 2020
12
Diseases Associated with Defects in tRNA CCA Addition. 61
32471101 2020
13
Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects. 61
32181284 2020
14
Analysis of the pathogenic I326T variant of human tRNA nucleotidyltransferase reveals reduced catalytic activity and thermal stability in vitro linked to a conformational change. 61
30959222 2019
15
Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency. 61
30758723 2019
16
Congenital sideroblastic anemia associated with B cell immunodeficiency, periodic fevers, and developmental delay: A case report and review of mucocutaneous features. 61
31555444 2019
17
Bone marrow histopathologic findings in SIFD syndrome: beyond the erythroid lineage. 61
30262584 2018
18
Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts. 61
27317422 2016
19
Building a biomedical cyberinfrastructure for collaborative research. 61
21521587 2011
20
Linking brain dynamics, neural mechanisms, and deep brain stimulation in Parkinson's disease: an integrated perspective. 61
19243986 2009

Variations for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic...

ClinVar genetic disease variations for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay:

6 (show top 50) (show all 143)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRNT1 NM_182916.3(TRNT1):c.569G>T (p.Arg190Ile) SNV Pathogenic 157613 rs606231287 GRCh37: 3:3186355-3186355
GRCh38: 3:3144671-3144671
2 TRNT1 NM_182916.3(TRNT1):c.497T>C (p.Leu166Ser) SNV Pathogenic 157616 rs606231289 GRCh37: 3:3186283-3186283
GRCh38: 3:3144599-3144599
3 TRNT1 NM_182916.3(TRNT1):c.461C>T (p.Thr154Ile) SNV Pathogenic 157617 rs606231290 GRCh37: 3:3182312-3182312
GRCh38: 3:3140628-3140628
4 TRNT1 NM_182916.3(TRNT1):c.1019del (p.Ser339_Ser340insTer) Deletion Pathogenic 852873 GRCh37: 3:3189350-3189350
GRCh38: 3:3147666-3147666
5 TRNT1 NM_182916.3(TRNT1):c.608+1G>T SNV Pathogenic 858224 GRCh37: 3:3186395-3186395
GRCh38: 3:3144711-3144711
6 TRNT1 NM_182916.3(TRNT1):c.865del (p.Ser289fs) Deletion Pathogenic 642460 rs1575066836 GRCh37: 3:3189192-3189192
GRCh38: 3:3147508-3147508
7 TRNT1 NM_182916.3(TRNT1):c.443C>T (p.Ala148Val) SNV Pathogenic 691999 rs761516140 GRCh37: 3:3182294-3182294
GRCh38: 3:3140610-3140610
8 TRNT1 NM_182916.3(TRNT1):c.324_330del (p.His108fs) Deletion Pathogenic 662903 rs776199133 GRCh37: 3:3179117-3179123
GRCh38: 3:3137433-3137439
9 TRNT1 NM_182916.3(TRNT1):c.1056+1G>A SNV Pathogenic 654647 rs369179242 GRCh37: 3:3189388-3189388
GRCh38: 3:3147704-3147704
10 TRNT1 NM_182916.3(TRNT1):c.1010del (p.Thr337fs) Deletion Pathogenic 933693 GRCh37: 3:3189341-3189341
GRCh38: 3:3147657-3147657
11 TRNT1 NM_182916.3(TRNT1):c.1038_1041dup (p.Asp348fs) Duplication Pathogenic 841899 GRCh37: 3:3189367-3189368
GRCh38: 3:3147683-3147684
12 TRNT1 NM_182916.3(TRNT1):c.501dup (p.Asp168Ter) Duplication Pathogenic 848613 GRCh37: 3:3186284-3186285
GRCh38: 3:3144600-3144601
13 TRNT1 NM_182916.3(TRNT1):c.733dup (p.Ile245fs) Duplication Pathogenic 959702 GRCh37: 3:3188231-3188232
GRCh38: 3:3146547-3146548
14 TRNT1 NM_182916.3(TRNT1):c.668T>C (p.Ile223Thr) SNV Pathogenic 157614 rs370011798 GRCh37: 3:3188173-3188173
GRCh38: 3:3146489-3146489
15 TRNT1 NM_182916.3(TRNT1):c.1142_1143insATGT (p.Trp381Ter) Insertion Pathogenic 157618 rs606231291 GRCh37: 3:3189675-3189676
GRCh38: 3:3147991-3147992
16 TRNT1 NM_182916.3(TRNT1):c.538A>T (p.Lys180Ter) SNV Pathogenic 836471 GRCh37: 3:3186324-3186324
GRCh38: 3:3144640-3144640
17 TRNT1 NM_182916.3(TRNT1):c.1252dup (p.Ser418fs) Duplication Pathogenic/Likely pathogenic 234934 rs876661298 GRCh37: 3:3189778-3189779
GRCh38: 3:3148094-3148095
18 TRNT1 NM_182916.3(TRNT1):c.1057-7C>G SNV Likely pathogenic 157615 rs368078167 GRCh37: 3:3189583-3189583
GRCh38: 3:3147899-3147899
19 TRNT1 NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu) SNV Likely pathogenic 963695 GRCh37: 3:3189779-3189779
GRCh38: 3:3148095-3148095
20 TRNT1 NM_182916.3(TRNT1):c.608G>A (p.Arg203Lys) SNV Likely pathogenic 931807 GRCh37: 3:3186394-3186394
GRCh38: 3:3144710-3144710
21 TRNT1 NM_182916.3(TRNT1):c.946G>A (p.Ala316Thr) SNV Uncertain significance 842505 GRCh37: 3:3189277-3189277
GRCh38: 3:3147593-3147593
22 TRNT1 NM_182916.3(TRNT1):c.88A>G (p.Met30Val) SNV Uncertain significance 851985 GRCh37: 3:3170812-3170812
GRCh38: 3:3129128-3129128
23 TRNT1 NM_182916.3(TRNT1):c.389C>G (p.Thr130Ser) SNV Uncertain significance 852675 GRCh37: 3:3182240-3182240
GRCh38: 3:3140556-3140556
24 TRNT1 NM_182916.3(TRNT1):c.848A>G (p.Lys283Arg) SNV Uncertain significance 941882 GRCh37: 3:3189179-3189179
GRCh38: 3:3147495-3147495
25 TRNT1 NM_182916.3(TRNT1):c.472A>G (p.Met158Val) SNV Uncertain significance 942285 GRCh37: 3:3182323-3182323
GRCh38: 3:3140639-3140639
26 TRNT1 NM_182916.3(TRNT1):c.994G>C (p.Asp332His) SNV Uncertain significance 945222 GRCh37: 3:3189325-3189325
GRCh38: 3:3147641-3147641
27 TRNT1 NM_182916.3(TRNT1):c.348T>G (p.His116Gln) SNV Uncertain significance 946345 GRCh37: 3:3182199-3182199
GRCh38: 3:3140515-3140515
28 TRNT1 NM_182916.3(TRNT1):c.1291A>G (p.Ile431Val) SNV Uncertain significance 947843 GRCh37: 3:3189824-3189824
GRCh38: 3:3148140-3148140
29 TRNT1 NM_182916.3(TRNT1):c.502G>T (p.Asp168Tyr) SNV Uncertain significance 957966 GRCh37: 3:3186288-3186288
GRCh38: 3:3144604-3144604
30 TRNT1 NM_182916.3(TRNT1):c.697A>G (p.Ile233Val) SNV Uncertain significance 960307 GRCh37: 3:3188202-3188202
GRCh38: 3:3146518-3146518
31 TRNT1 NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu) SNV Uncertain significance 963695 GRCh37: 3:3189779-3189779
GRCh38: 3:3148095-3148095
32 TRNT1 NM_182916.3(TRNT1):c.128_130del (p.Glu43del) Deletion Uncertain significance 234932 rs876661297 GRCh37: 3:3170850-3170852
GRCh38: 3:3129166-3129168
33 TRNT1 NM_182916.3(TRNT1):c.208T>G (p.Leu70Val) SNV Uncertain significance 1053449 GRCh37: 3:3179003-3179003
GRCh38: 3:3137319-3137319
34 TRNT1 NM_182916.3(TRNT1):c.403C>T (p.His135Tyr) SNV Uncertain significance 1053680 GRCh37: 3:3182254-3182254
GRCh38: 3:3140570-3140570
35 TRNT1 NM_182916.3(TRNT1):c.928G>T (p.Asp310Tyr) SNV Uncertain significance 1056114 GRCh37: 3:3189259-3189259
GRCh38: 3:3147575-3147575
36 TRNT1 NM_182916.3(TRNT1):c.647A>G (p.Asp216Gly) SNV Uncertain significance 1060094 GRCh37: 3:3188152-3188152
GRCh38: 3:3146468-3146468
37 TRNT1 NM_182916.3(TRNT1):c.581A>G (p.Asp194Gly) SNV Uncertain significance 1061932 GRCh37: 3:3186367-3186367
GRCh38: 3:3144683-3144683
38 TRNT1 NM_182916.3(TRNT1):c.1182A>T (p.Arg394Ser) SNV Uncertain significance 1062306 GRCh37: 3:3189715-3189715
GRCh38: 3:3148031-3148031
39 TRNT1 NM_182916.3(TRNT1):c.787G>A (p.Val263Met) SNV Uncertain significance 1062681 GRCh37: 3:3188292-3188292
GRCh38: 3:3146608-3146608
40 TRNT1 NM_182916.3(TRNT1):c.1183A>G (p.Lys395Glu) SNV Uncertain significance 1063018 GRCh37: 3:3189716-3189716
GRCh38: 3:3148032-3148032
41 TRNT1 NM_182916.3(TRNT1):c.172G>A (p.Glu58Lys) SNV Uncertain significance 1063722 GRCh37: 3:3178967-3178967
GRCh38: 3:3137283-3137283
42 TRNT1 NM_182916.3(TRNT1):c.250G>C (p.Ala84Pro) SNV Uncertain significance 1063955 GRCh37: 3:3179045-3179045
GRCh38: 3:3137361-3137361
43 TRNT1 NM_182916.3(TRNT1):c.811G>A (p.Ala271Thr) SNV Uncertain significance 489387 rs1553555777 GRCh37: 3:3189142-3189142
GRCh38: 3:3147458-3147458
44 TRNT1 NM_182916.3(TRNT1):c.1295_1297AGA[1] (p.Lys433del) Microsatellite Uncertain significance 644524 rs1575068543 GRCh37: 3:3189827-3189829
GRCh38: 3:3148143-3148145
45 TRNT1 NM_182916.3(TRNT1):c.259A>G (p.Thr87Ala) SNV Uncertain significance 665462 rs140935012 GRCh37: 3:3179054-3179054
GRCh38: 3:3137370-3137370
46 TRNT1 NM_182916.3(TRNT1):c.608+6A>T SNV Uncertain significance 827993 rs747803738 GRCh37: 3:3186400-3186400
GRCh38: 3:3144716-3144716
47 TRNT1 NM_182916.3(TRNT1):c.772A>G (p.Ile258Val) SNV Uncertain significance 948728 GRCh37: 3:3188277-3188277
GRCh38: 3:3146593-3146593
48 TRNT1 NM_182916.3(TRNT1):c.1088G>C (p.Cys363Ser) SNV Uncertain significance 962794 GRCh37: 3:3189621-3189621
GRCh38: 3:3147937-3147937
49 TRNT1 NM_182916.3(TRNT1):c.925T>G (p.Leu309Val) SNV Uncertain significance 663557 rs985101465 GRCh37: 3:3189256-3189256
GRCh38: 3:3147572-3147572
50 TRNT1 NM_182916.3(TRNT1):c.514G>A (p.Gly172Ser) SNV Uncertain significance 665083 rs1459323924 GRCh37: 3:3186300-3186300
GRCh38: 3:3144616-3144616

UniProtKB/Swiss-Prot genetic disease variations for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay:

72
# Symbol AA change Variation ID SNP ID
1 TRNT1 p.Thr154Ile VAR_072421 rs606231290
2 TRNT1 p.Met158Val VAR_072422 rs771781629
3 TRNT1 p.Leu166Ser VAR_072423 rs606231289
4 TRNT1 p.Arg190Ile VAR_072424 rs606231287
5 TRNT1 p.Ile223Thr VAR_072425 rs370011798
6 TRNT1 p.Ile326Thr VAR_072426
7 TRNT1 p.Lys416Glu VAR_072427 rs199931785

Expression for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic...

Search GEO for disease gene expression data for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay.

Pathways for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic...

Pathways related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 YARS2 TRNT1 TRMU TRMT5 TRMT10C TRIT1
2
Show member pathways
11.65 TRNT1 TRMU TRMT5 TRMT10C TRIT1 PUS1
3
Show member pathways
10.36 TRMT10C ELAC2

GO Terms for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic...

Cellular components related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.5 YARS2 TRNT1 TRMT5 TRMT10C TRIT1 PUS1
2 mitochondrion GO:0005739 9.44 YARS2 TRNT1 TRMU TRMT5 TRMT10C TRIT1
3 mitochondrial nucleoid GO:0042645 9.16 TRMT10C ELAC2

Biological processes related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.63 TRMU TRMT5 TRMT10C
2 tRNA modification GO:0006400 9.43 TRIT1 GTPBP3
3 tRNA wobble uridine modification GO:0002098 9.4 MTO1 GTPBP3
4 mitochondrial tRNA processing GO:0090646 9.37 TRMT10C ELAC2
5 mitochondrial tRNA methylation GO:0070901 9.32 TRMT5 TRMT10C
6 tRNA processing GO:0008033 9.28 TRNT1 TRMU TRMT5 TRMT10C TRIT1 PUS1
7 tRNA 3'-end processing GO:0042780 9.26 TRNT1 ELAC2
8 tRNA methylation GO:0030488 9.26 TRMT5 TRMT10C MTO1 GTPBP3
9 mitochondrial tRNA 3'-end processing GO:1990180 9.16 TRNT1 TRMT10C

Molecular functions related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.86 TRNT1 TRMU TRMT5 TRMT10C TRIT1 MVK
2 RNA binding GO:0003723 9.56 YARS2 TRNT1 TRMU TRMT10C PUS1 MTO1
3 methyltransferase activity GO:0008168 9.54 TRMU TRMT5 TRMT10C
4 adenosine deaminase activity GO:0004000 9.32 LACC1 ADA2
5 tRNA (guanine-N1-)-methyltransferase activity GO:0009019 9.16 TRMT5 TRMT10C
6 tRNA binding GO:0000049 9.02 YARS2 TRNT1 TRMU TRMT10C PUS1

Sources for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic...

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
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57 OMIM® (Updated 20-May-2021)
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69 Tocris
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