SIFD
MCID: SDR009
MIFTS: 43

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 56 12 73 29 6 15 39 71
Sifd 56 12 73
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:

56
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 variable expressivity


Classifications:

Orphanet: 58  
Rare haematological diseases
Rare immunological diseases


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

OMIM : 56 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)

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, cerebellum and brain, and related phenotypes are sensorineural hearing impairment and aminoaciduria

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 : 73 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 45)
# Related Disease Score Top Affiliating Genes
1 sideroblastic anemia 30.4 YARS2 TRNT1 TRMU SFXN4 PUS1
2 trnt1 deficiency 12.6
3 myopathy, lactic acidosis, and sideroblastic anemia 3 10.4 YARS2 PUS1
4 myopathy, lactic acidosis, and sideroblastic anemia 1 10.3 YARS2 PUS1
5 pearson marrow-pancreas syndrome 10.3 YARS2 PUS1
6 drug-induced hearing loss 10.3 TRMU GTPBP3
7 immune deficiency disease 10.2
8 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.2
9 deficiency anemia 10.2
10 neuroretinitis 10.2
11 retinitis 10.2
12 lymphopenia 10.2
13 myopathy, lactic acidosis, and sideroblastic anemia 2 10.2 YARS2 PUS1 GTPBP3
14 neuropathy, hereditary motor and sensory, type via, with optic atrophy 10.2 TRMT5 MRPL12
15 anemia, hypochromic microcytic, with iron overload 1 10.1
16 retinitis pigmentosa 10.1
17 branchiootic syndrome 1 10.1
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
19 hypochromic microcytic anemia 10.1
20 sensorineural hearing loss 10.1
21 b cell deficiency 10.1
22 agammaglobulinemia 10.1
23 severe combined immunodeficiency 10.1
24 cataract 10.1
25 cerulean cataract 10.1
26 deafness, aminoglycoside-induced 10.0 TRMU MRPL12 GTPBP3
27 myopathy, lactic acidosis, and sideroblastic anemia 10.0 YARS2 TRMU PUS1 GTPBP3
28 combined oxidative phosphorylation deficiency 30 10.0 TRMU TRMT5 TRMT10C
29 mitochondrial myopathy 9.9 YARS2 TRMU PUS1 GTPBP3
30 visual cortex disease 9.9 RNASEH2C RNASEH2B
31 visual pathway disease 9.9 RNASEH2C RNASEH2B
32 combined oxidative phosphorylation deficiency 10 9.9 TRMU TRMT5 TRIT1 PUS1
33 prolidase deficiency 9.9 RNASEH2C RNASEH2B
34 chilblain lupus 1 9.9 RNASEH2C RNASEH2B
35 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.8 YARS2 TRMU GTPBP3 ELAC2
36 vasculopathy, retinal, with cerebral leukodystrophy 9.8 RNASEH2C RNASEH2B
37 dyschromatosis symmetrica hereditaria 9.7 RNASEH2C RNASEH2B
38 autosomal dominant non-syndromic intellectual disability 24 9.7 MVK LPIN2
39 mitochondrial metabolism disease 9.6 YARS2 TRMU TRMT10C PUS1 GTPBP3
40 sting-associated vasculopathy with onset in infancy 9.6 RNASEH2C RNASEH2B ADA2
41 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 9.5 MVK LPIN2
42 aicardi-goutieres syndrome 9.5 RNASEH2C RNASEH2B ADA2
43 cardiomyopathy, infantile hypertrophic 9.4 TRMU TRMT5 TRIT1 PUS1 GTPBP3 ELAC2
44 lactic acidosis 9.4 YARS2 TRMU TRMT5 TRMT10C PUS1 GTPBP3
45 mevalonic aciduria 9.2 MVK LPIN2

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 18)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
2 aminoaciduria 31 occasional (7.5%) HP:0003355
3 ataxia 31 occasional (7.5%) HP:0001251
4 growth delay 31 occasional (7.5%) HP:0001510
5 nephrocalcinosis 31 occasional (7.5%) HP:0000121
6 abnormal cerebellum morphology 31 occasional (7.5%) HP:0001317
7 rod-cone dystrophy 31 occasional (7.5%) HP:0000510
8 lactic acidosis 31 occasional (7.5%) HP:0003128
9 cardiomyopathy 31 occasional (7.5%) HP:0001638
10 cerebral atrophy 31 occasional (7.5%) HP:0002059
11 brittle hair 31 occasional (7.5%) HP:0002299
12 seizure 31 occasional (7.5%) HP:0001250
13 global developmental delay 31 HP:0001263
14 lymphopenia 31 HP:0001888
15 generalized hypotonia 31 HP:0001290
16 hypochromic microcytic anemia 31 HP:0004840
17 decreased circulating antibody level 31 HP:0004313
18 sideroblastic anemia 31 HP:0001924

Symptoms via clinical synopsis from OMIM:

56
Immunology:
recurrent fevers
hypogammaglobulinemia
b-cell lymphopenia
reduction of mature b cells

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

Hematology:
sideroblastic anemia
ineffective erythropoiesis
hypochromic, microcytic anemia

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

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, Cerebellum, Brain, Bone Marrow, Bone

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 15)
# Title Authors PMID Year
1
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). 56 6 61
25193871 2014
2
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). 56 61
23553769 2013
3
Diseases Associated with Defects in tRNA CCA Addition. 61
32471101 2020
4
Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects. 61
32181284 2020
5
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
6
Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency. 61
30758723 2019
7
Congenital sideroblastic anemia associated with B cell immunodeficiency, periodic fevers, and developmental delay: A case report and review of mucocutaneous features. 61
31555444 2019
8
Bone marrow histopathologic findings in SIFD syndrome: beyond the erythroid lineage. 61
30262584 2018
9
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors. 61
29358286 2018
10
In vitro studies of disease-linked variants of human tRNA nucleotidyltransferase reveal decreased thermal stability and altered catalytic activity. 61
29454993 2018
11
SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis. 61
29055896 2018
12
Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts. 61
27317422 2016
13
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. 61
26494905 2016
14
Building a biomedical cyberinfrastructure for collaborative research. 61
21521587 2011
15
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 81) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRNT1 NM_182916.3(TRNT1):c.324_330del (p.His108fs)deletion Pathogenic 662903 3:3179117-3179123 3:3137433-3137439
2 TRNT1 NM_182916.3(TRNT1):c.865del (p.Ser289fs)deletion Pathogenic 642460 3:3189192-3189192 3:3147508-3147508
3 TRNT1 NM_182916.3(TRNT1):c.443C>T (p.Ala148Val)SNV Pathogenic 691999 3:3182294-3182294 3:3140610-3140610
4 TRNT1 NM_182916.3(TRNT1):c.538A>T (p.Lys180Ter)SNV Pathogenic 836471 3:3186324-3186324 3:3144640-3144640
5 TRNT1 NM_182916.3(TRNT1):c.1019del (p.Ser339_Ser340insTer)deletion Pathogenic 852873 3:3189350-3189350 3:3147666-3147666
6 TRNT1 NM_182916.3(TRNT1):c.1038_1041dup (p.Asp348fs)duplication Pathogenic 841899 3:3189367-3189368 3:3147683-3147684
7 TRNT1 NM_182916.3(TRNT1):c.608+1G>TSNV Pathogenic 858224 3:3186395-3186395 3:3144711-3144711
8 TRNT1 NM_182916.3(TRNT1):c.569G>T (p.Arg190Ile)SNV Pathogenic 157613 rs606231287 3:3186355-3186355 3:3144671-3144671
9 TRNT1 NM_182916.3(TRNT1):c.668T>C (p.Ile223Thr)SNV Pathogenic 157614 rs370011798 3:3188173-3188173 3:3146489-3146489
10 TRNT1 NM_182916.3(TRNT1):c.497T>C (p.Leu166Ser)SNV Pathogenic 157616 rs606231289 3:3186283-3186283 3:3144599-3144599
11 TRNT1 NM_182916.3(TRNT1):c.461C>T (p.Thr154Ile)SNV Pathogenic 157617 rs606231290 3:3182312-3182312 3:3140628-3140628
12 TRNT1 NM_182916.3(TRNT1):c.1142_1143insATGT (p.Trp381Ter)insertion Pathogenic 157618 rs606231291 3:3189675-3189676 3:3147991-3147992
13 TRNT1 NM_182916.3(TRNT1):c.501dup (p.Asp168Ter)duplication Pathogenic 848613 3:3186284-3186285 3:3144600-3144601
14 TRNT1 NM_182916.3(TRNT1):c.1252dup (p.Ser418fs)duplication Pathogenic/Likely pathogenic 234934 rs876661298 3:3189778-3189779 3:3148094-3148095
15 TRNT1 NM_182916.3(TRNT1):c.1057-7C>GSNV Uncertain significance 157615 rs368078167 3:3189583-3189583 3:3147899-3147899
16 TRNT1 NM_182916.3(TRNT1):c.1240C>G (p.Gln414Glu)SNV Uncertain significance 836921 3:3189773-3189773 3:3148089-3148089
17 TRNT1 NM_182916.3(TRNT1):c.1278A>C (p.Glu426Asp)SNV Uncertain significance 846912 3:3189811-3189811 3:3148127-3148127
18 TRNT1 NM_182916.3(TRNT1):c.550G>A (p.Val184Ile)SNV Uncertain significance 858296 3:3186336-3186336 3:3144652-3144652
19 TRNT1 NM_182916.3(TRNT1):c.611T>G (p.Phe204Cys)SNV Uncertain significance 847642 3:3188116-3188116 3:3146432-3146432
20 TRNT1 NM_182916.3(TRNT1):c.624T>G (p.Ile208Met)SNV Uncertain significance 856780 3:3188129-3188129 3:3146445-3146445
21 TRNT1 NM_182916.3(TRNT1):c.686G>C (p.Gly229Ala)SNV Uncertain significance 856433 3:3188191-3188191 3:3146507-3146507
22 TRNT1 NM_182916.3(TRNT1):c.808C>T (p.Pro270Ser)SNV Uncertain significance 864740 3:3189139-3189139 3:3147455-3147455
23 TRNT1 NM_182916.3(TRNT1):c.826G>A (p.Glu276Lys)SNV Uncertain significance 839964 3:3189157-3189157 3:3147473-3147473
24 TRNT1 NM_182916.3(TRNT1):c.898T>G (p.Phe300Val)SNV Uncertain significance 863576 3:3189229-3189229 3:3147545-3147545
25 TRNT1 NM_182916.3(TRNT1):c.946G>A (p.Ala316Thr)SNV Uncertain significance 842505 3:3189277-3189277 3:3147593-3147593
26 TRNT1 NM_182916.3(TRNT1):c.1010C>A (p.Thr337Lys)SNV Uncertain significance 835574 3:3189341-3189341 3:3147657-3147657
27 TRNT1 NM_182916.3(TRNT1):c.608+6A>TSNV Uncertain significance 827993 3:3186400-3186400 3:3144716-3144716
28 TRNT1 NC_000003.12:g.(?_3129021)_(3148174_?)dupduplication Uncertain significance 832834 3:3170705-3189858
29 TRNT1 NM_182916.3(TRNT1):c.88A>G (p.Met30Val)SNV Uncertain significance 851985 3:3170812-3170812 3:3129128-3129128
30 TRNT1 NM_182916.3(TRNT1):c.112C>G (p.Gln38Glu)SNV Uncertain significance 856537 3:3170836-3170836 3:3129152-3129152
31 TRNT1 NM_182916.3(TRNT1):c.184G>T (p.Ala62Ser)SNV Uncertain significance 851045 3:3178979-3178979 3:3137295-3137295
32 TRNT1 NM_182916.3(TRNT1):c.251C>G (p.Ala84Gly)SNV Uncertain significance 840669 3:3179046-3179046 3:3137362-3137362
33 TRNT1 NM_182916.3(TRNT1):c.320A>G (p.Lys107Arg)SNV Uncertain significance 864630 3:3179115-3179115 3:3137431-3137431
34 TRNT1 NM_182916.3(TRNT1):c.322C>G (p.His108Asp)SNV Uncertain significance 852757 3:3179117-3179117 3:3137433-3137433
35 TRNT1 NM_182916.3(TRNT1):c.383A>G (p.Asp128Gly)SNV Uncertain significance 863968 3:3182234-3182234 3:3140550-3140550
36 TRNT1 NM_182916.3(TRNT1):c.389C>G (p.Thr130Ser)SNV Uncertain significance 852675 3:3182240-3182240 3:3140556-3140556
37 TRNT1 NM_182916.3(TRNT1):c.1079C>T (p.Thr360Ile)SNV Uncertain significance 542065 rs776480350 3:3189612-3189612 3:3147928-3147928
38 TRNT1 NM_182916.3(TRNT1):c.233T>C (p.Ile78Thr)SNV Uncertain significance 542064 rs1553553306 3:3179028-3179028 3:3137344-3137344
39 TRNT1 NM_182916.3(TRNT1):c.284C>T (p.Ser95Leu)SNV Uncertain significance 542063 rs1287896952 3:3179079-3179079 3:3137395-3137395
40 TRNT1 NM_182916.3(TRNT1):c.215G>C (p.Gly72Ala)SNV Uncertain significance 569812 rs1267775202 3:3179010-3179010 3:3137326-3137326
41 TRNT1 NM_182916.3(TRNT1):c.107A>T (p.Glu36Val)SNV Uncertain significance 662894 3:3170831-3170831 3:3129147-3129147
42 TRNT1 NM_182916.3(TRNT1):c.185C>G (p.Ala62Gly)SNV Uncertain significance 660765 3:3178980-3178980 3:3137296-3137296
43 TRNT1 NM_182916.3(TRNT1):c.259A>G (p.Thr87Ala)SNV Uncertain significance 665462 3:3179054-3179054 3:3137370-3137370
44 TRNT1 NM_182916.3(TRNT1):c.295C>T (p.Arg99Trp)SNV Uncertain significance 659705 3:3179090-3179090 3:3137406-3137406
45 TRNT1 NM_182916.3(TRNT1):c.925T>G (p.Leu309Val)SNV Uncertain significance 663557 3:3189256-3189256 3:3147572-3147572
46 TRNT1 NM_182916.3(TRNT1):c.1045T>G (p.Phe349Val)SNV Uncertain significance 659739 3:3189376-3189376 3:3147692-3147692
47 TRNT1 NM_182916.3(TRNT1):c.1066C>T (p.Pro356Ser)SNV Uncertain significance 662543 3:3189599-3189599 3:3147915-3147915
48 TRNT1 NM_182916.3(TRNT1):c.1081C>T (p.Arg361Cys)SNV Uncertain significance 647360 3:3189614-3189614 3:3147930-3147930
49 TRNT1 NM_182916.3(TRNT1):c.1295_1297AGA[1] (p.Lys433del)short repeat Uncertain significance 644524 3:3189827-3189829 3:3148143-3148145
50 TRNT1 NM_182916.3(TRNT1):c.148+3G>ASNV Uncertain significance 654838 3:3170875-3170875 3:3129191-3129191

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

73
# 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
13.04 YARS2 TRNT1 TRMU TRMT5 TRMT10C TRIT1
2
Show member pathways
11.6 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 9.36 YARS2 TRNT1 TRMU TRMT5 TRMT10C TRIT1
3 ribonuclease H2 complex GO:0032299 9.16 RNASEH2C RNASEH2B

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 methylation GO:0030488 9.43 TRMT5 GTPBP3
3 tRNA modification GO:0006400 9.4 TRIT1 GTPBP3
4 RNA catabolic process GO:0006401 9.37 RNASEH2C RNASEH2B
5 mitochondrial tRNA processing GO:0090646 9.32 TRMT10C ELAC2
6 mitochondrial tRNA methylation GO:0070901 9.26 TRMT5 TRMT10C
7 tRNA processing GO:0008033 9.23 TRNT1 TRMU TRMT5 TRMT10C TRIT1 PUS1
8 tRNA 3'-end processing GO:0042780 9.16 TRNT1 ELAC2
9 mitochondrial tRNA 3'-end processing GO:1990180 8.96 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 RNA binding GO:0003723 9.8 YARS2 TRNT1 TRMU TRMT10C PUS1 MRPL12
2 methyltransferase activity GO:0008168 9.5 TRMU TRMT5 TRMT10C
3 adenosine deaminase activity GO:0004000 9.16 LACC1 ADA2
4 tRNA binding GO:0000049 9.02 YARS2 TRNT1 TRMU TRMT10C PUS1
5 tRNA (guanine-N1-)-methyltransferase activity GO:0009019 8.96 TRMT5 TRMT10C

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

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