Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SIFD MCID: SDR009 MIFTS: 45	Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD) Categories: Blood diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Aplastic and other anaemias

Other anaemias

Hereditary sideroblastic anaemia

Orphanet: ⁵⁸

Rare haematological diseases

Rare immunological diseases

External Ids:

Disease Ontology ¹² DOID:0080209

OMIM® ⁵⁷ 616084

MeSH ⁴⁴ D000756 D002658 D007153 more

ICD10 via Orphanet ³³ D64.0

Orphanet ⁵⁸ ORPHA369861

MedGen ⁴¹ C4015172 CN221134

UMLS ⁷⁰ C4015172

Sources

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.

Sources

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

Sources

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

Sources

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

Sources

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

Sources

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

Sources

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	Chakraborty PK...Fleming MD	25193871	2014
2	Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors. ⁶¹ ⁶	Giannelou A...Aksentijevich I	29358286	2018
3	In vitro studies of disease-linked variants of human tRNA nucleotidyltransferase reveal decreased thermal stability and altered catalytic activity. ⁶ ⁶¹	Leibovitch M...Joyce PBM	29454993	2018
4	SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis. ⁶ ⁶¹	Barton C...Wynn R	29055896	2018
5	Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. ⁶ ⁶¹	DeLuca AP...Slusarski DC	26494905	2016
6	A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). ⁵⁷ ⁶¹	Wiseman DH...Wynn RF	23553769	2013
7	TRNT1 deficiency: clinical, biochemical and molecular genetic features. ⁶	Wedatilake Y...Rahman S	27370603	2016
8	Sideroblastic anaemia, Immunodeficiency, Periodic Fevers, and developmental delay (SIFD) presenting as systemic inflammation with arthritis. ⁶¹	Maccora I...Roderick MR	33493307	2021
9	Neutrophilic dermatosis: a new skin manifestation and novel pathogenic variant in a rare autoinflammatory disease. ⁶¹	Bardou MLD...Grumach AS	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	Yang L...Zhao X	32885000	2020
11	Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant). ⁶¹	Rigante D...Zampino G	32592741	2020
12	Diseases Associated with Defects in tRNA CCA Addition. ⁶¹	Slade A...Holcik M	32471101	2020
13	Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects. ⁶¹	Yang L...Zhao X	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	Leibovitch M...Joyce PBM	30959222	2019
15	Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency. ⁶¹	Kumaki E...Morio T	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	Jfri A...Netchiporouk E	31555444	2019
17	Bone marrow histopathologic findings in SIFD syndrome: beyond the erythroid lineage. ⁶¹	Mariani R...Gong S	30262584	2018
18	Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts. ⁶¹	Liwak-Muir U...Holcik M	27317422	2016
19	Building a biomedical cyberinfrastructure for collaborative research. ⁶¹	Schad PA...Hamilton CM	21521587	2011
20	Linking brain dynamics, neural mechanisms, and deep brain stimulation in Parkinson's disease: an integrated perspective. ⁶¹	Modolo J...Beuter A	19243986	2009

Sources

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

Genes related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay (1 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TRNT1	TRNA Nucleotidyl Transferase 1	Protein Coding	1716.41	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries Variants (show sections)	25193871
2	PUS1	Pseudouridine Synthase 1	Protein Coding	6.51	DISEASES inferred ¹⁵
3	SFXN4	Sideroflexin 4	Protein Coding	6	DISEASES inferred ¹⁵
4	YARS2	Tyrosyl-TRNA Synthetase 2	Protein Coding	6	DISEASES inferred ¹⁵
5	TRMU	TRNA Mitochondrial 2-Thiouridylase	Protein Coding	5.91	DISEASES inferred ¹⁵
6	LACC1	Laccase Domain Containing 1	Protein Coding	5.85	DISEASES inferred ¹⁵
7	TRIT1	TRNA Isopentenyltransferase 1	Protein Coding	5.77	DISEASES inferred ¹⁵
8	GTPBP3	GTP Binding Protein 3, Mitochondrial	Protein Coding	5.72	DISEASES inferred ¹⁵
9	TRMT5	TRNA Methyltransferase 5	Protein Coding	5.72	DISEASES inferred ¹⁵
10	MTFMT	Mitochondrial Methionyl-TRNA Formyltransferase	Protein Coding	5.64	DISEASES inferred ¹⁵
11	ELAC2	ElaC Ribonuclease Z 2	Protein Coding	5.62	DISEASES inferred ¹⁵
12	MRPL12	Mitochondrial Ribosomal Protein L12	Protein Coding	5.6	DISEASES inferred ¹⁵
13	MVK	Mevalonate Kinase	Protein Coding	5.59	DISEASES inferred ¹⁵
14	RNASEH2C	Ribonuclease H2 Subunit C	Protein Coding	5.58	DISEASES inferred ¹⁵
15	MTO1	Mitochondrial TRNA Translation Optimization 1	Protein Coding	5.58	DISEASES inferred ¹⁵
16	ADA2	Adenosine Deaminase 2	Protein Coding	5.57	DISEASES inferred ¹⁵
17	TRMT10C	TRNA Methyltransferase 10C, Mitochondrial RNase P Subunit	Protein Coding	5.56	DISEASES inferred ¹⁵

Sources

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

Sources

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.

Sources

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	Gene Expression ⁶⁵ Show member pathways Generic Transcription Pathway ⁶⁵	13.09	YARS2 TRNT1 TRMU TRMT5 TRMT10C TRIT1
2	tRNA processing ⁶⁵ Show member pathways 7-(3-amino-3-carboxypropyl)-wyosine biosynthesis ¹ Synthesis of wybutosine at G37 of tRNA(Phe) ⁶⁵ tRNA modification in the mitochondrion ⁶⁵ tRNA modification in the nucleus and cytosol ⁶⁵ tRNA processing in the mitochondrion ⁶⁵ tRNA processing in the nucleus ⁶⁵ wybutosine biosynthesis ¹	11.65	TRNT1 TRMU TRMT5 TRMT10C TRIT1 PUS1
3	rRNA processing in the mitochondrion ⁶⁵ Show member pathways rRNA modification in the mitochondrion ⁶⁵	10.36	TRMT10C ELAC2

Sources

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

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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

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

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:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

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

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:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

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

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:

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:

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

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

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

Genes related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay (1 elite genes):

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:

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

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

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:

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:

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

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

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