MCID: SDR009
MIFTS: 26

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

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune 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 75 29 6 40 73
Sifd 57 12 75
Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome 59
Sifd Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

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


HPO:

32
sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



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)

MalaCards based summary : Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay, also known as sifd, is related to trnt1 deficiency and mental retardation, autosomal recessive 2, 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). Affiliated tissues include b cells, and related phenotypes are nephrocalcinosis and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 75 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.

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.

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:

# Related Disease Score Top Affiliating Genes
1 trnt1 deficiency 11.8
2 mental retardation, autosomal recessive 2 9.2 CRBN TRNT1
3 retinitis pigmentosa and erythrocytic microcytosis 9.1 CRBN TRNT1
4 retinitis pigmentosa 8.2 CRBN LOC107986006 TRNT1

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hypotonia
delayed psychomotor development
seizures (in some patients)
cerebellar signs (in some patients)
ataxia (in some patients)
more
Immunology:
hypogammaglobulinemia
recurrent fevers
b-cell lymphopenia
reduction of mature b cells

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)

Skin Nails Hair Hair:
brittle hair (in some patients)

Hematology:
ineffective erythropoiesis
sideroblastic anemia
hypochromic, microcytic anemia

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

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

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 nephrocalcinosis 32 occasional (7.5%) HP:0000121
2 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
3 rod-cone dystrophy 32 occasional (7.5%) HP:0000510
4 seizures 32 occasional (7.5%) HP:0001250
5 ataxia 32 occasional (7.5%) HP:0001251
6 global developmental delay 32 HP:0001263
7 generalized hypotonia 32 HP:0001290
8 growth delay 32 occasional (7.5%) HP:0001510
9 cardiomyopathy 32 occasional (7.5%) HP:0001638
10 sideroblastic anemia 32 HP:0001924
11 cerebral atrophy 32 occasional (7.5%) HP:0002059
12 brittle hair 32 occasional (7.5%) HP:0002299
13 lactic acidosis 32 occasional (7.5%) HP:0003128
14 aminoaciduria 32 occasional (7.5%) HP:0003355
15 decreased antibody level in blood 32 HP:0004313
16 hypochromic microcytic anemia 32 HP:0004840

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:

41
B Cells

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

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

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

75
# 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

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

6
(show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRNT1 NM_001302946.1(TRNT1): c.569G> T (p.Arg190Ile) single nucleotide variant Pathogenic rs606231287 GRCh38 Chromosome 3, 3144671: 3144671
2 TRNT1 NM_001302946.1(TRNT1): c.569G> T (p.Arg190Ile) single nucleotide variant Pathogenic rs606231287 GRCh37 Chromosome 3, 3186355: 3186355
3 TRNT1 NM_001302946.1(TRNT1): c.668T> C (p.Ile223Thr) single nucleotide variant Pathogenic rs370011798 GRCh38 Chromosome 3, 3146489: 3146489
4 TRNT1 NM_001302946.1(TRNT1): c.668T> C (p.Ile223Thr) single nucleotide variant Pathogenic rs370011798 GRCh37 Chromosome 3, 3188173: 3188173
5 TRNT1 NM_182916.2(TRNT1): c.1057-7C> G single nucleotide variant Uncertain significance rs368078167 GRCh38 Chromosome 3, 3147899: 3147899
6 TRNT1 NM_182916.2(TRNT1): c.1057-7C> G single nucleotide variant Uncertain significance rs368078167 GRCh37 Chromosome 3, 3189583: 3189583
7 TRNT1 NM_001302946.1(TRNT1): c.497T> C (p.Leu166Ser) single nucleotide variant Pathogenic rs606231289 GRCh38 Chromosome 3, 3144599: 3144599
8 TRNT1 NM_001302946.1(TRNT1): c.497T> C (p.Leu166Ser) single nucleotide variant Pathogenic rs606231289 GRCh37 Chromosome 3, 3186283: 3186283
9 TRNT1 NM_001302946.1(TRNT1): c.461C> T (p.Thr154Ile) single nucleotide variant Pathogenic rs606231290 GRCh38 Chromosome 3, 3140628: 3140628
10 TRNT1 NM_001302946.1(TRNT1): c.461C> T (p.Thr154Ile) single nucleotide variant Pathogenic rs606231290 GRCh37 Chromosome 3, 3182312: 3182312
11 TRNT1 NM_182916.2(TRNT1): c.1142_1143insATGT (p.Trp381Terfs) insertion Pathogenic rs606231291 GRCh38 Chromosome 3, 3147991: 3147992
12 TRNT1 NM_182916.2(TRNT1): c.1142_1143insATGT (p.Trp381Terfs) insertion Pathogenic rs606231291 GRCh37 Chromosome 3, 3189675: 3189676
13 TRNT1 NM_001302946.1(TRNT1): c.1192dupA (p.Ser398Lysfs) duplication Pathogenic rs878853266 GRCh38 Chromosome 3, 3148101: 3148101
14 TRNT1 NM_001302946.1(TRNT1): c.1192dupA (p.Ser398Lysfs) duplication Pathogenic rs878853266 GRCh37 Chromosome 3, 3189785: 3189785
15 TRNT1 NM_182916.2(TRNT1): c.133C> T (p.Leu45=) single nucleotide variant Benign rs75033443 GRCh37 Chromosome 3, 3170857: 3170857
16 TRNT1 NM_182916.2(TRNT1): c.133C> T (p.Leu45=) single nucleotide variant Benign rs75033443 GRCh38 Chromosome 3, 3129173: 3129173
17 TRNT1 NM_182916.2(TRNT1): c.231T> C (p.Asp77=) single nucleotide variant Benign/Likely benign rs114362638 GRCh37 Chromosome 3, 3179026: 3179026
18 TRNT1 NM_182916.2(TRNT1): c.231T> C (p.Asp77=) single nucleotide variant Benign/Likely benign rs114362638 GRCh38 Chromosome 3, 3137342: 3137342
19 TRNT1 NM_182916.2(TRNT1): c.444G> T (p.Ala148=) single nucleotide variant Benign rs41399044 GRCh37 Chromosome 3, 3182295: 3182295
20 TRNT1 NM_182916.2(TRNT1): c.444G> T (p.Ala148=) single nucleotide variant Benign rs41399044 GRCh38 Chromosome 3, 3140611: 3140611
21 TRNT1 NM_182916.2(TRNT1): c.68T> C (p.Leu23Pro) single nucleotide variant Benign rs334773 GRCh38 Chromosome 3, 3129108: 3129108
22 TRNT1 NM_182916.2(TRNT1): c.68T> C (p.Leu23Pro) single nucleotide variant Benign rs334773 GRCh37 Chromosome 3, 3170792: 3170792
23 TRNT1 NM_182916.2(TRNT1): c.810_811insAAACTT (p.Pro270_Ala271insLysLeu) insertion Benign GRCh38 Chromosome 3, 3147457: 3147458
24 TRNT1 NM_182916.2(TRNT1): c.810_811insAAACTT (p.Pro270_Ala271insLysLeu) insertion Benign GRCh37 Chromosome 3, 3189141: 3189142
25 TRNT1 NM_182916.2(TRNT1): c.811G> A (p.Ala271Thr) single nucleotide variant not provided GRCh38 Chromosome 3, 3147458: 3147458
26 TRNT1 NM_182916.2(TRNT1): c.811G> A (p.Ala271Thr) single nucleotide variant not provided GRCh37 Chromosome 3, 3189142: 3189142
27 TRNT1 NM_182916.2(TRNT1): c.27C> T (p.His9=) single nucleotide variant Likely benign rs776254990 GRCh37 Chromosome 3, 3170751: 3170751
28 TRNT1 NM_182916.2(TRNT1): c.27C> T (p.His9=) single nucleotide variant Likely benign rs776254990 GRCh38 Chromosome 3, 3129067: 3129067
29 TRNT1 NM_182916.2(TRNT1): c.1079C> T (p.Thr360Ile) single nucleotide variant Uncertain significance rs776480350 GRCh37 Chromosome 3, 3189612: 3189612
30 TRNT1 NM_182916.2(TRNT1): c.1079C> T (p.Thr360Ile) single nucleotide variant Uncertain significance rs776480350 GRCh38 Chromosome 3, 3147928: 3147928
31 TRNT1 NM_182916.2(TRNT1): c.1292T> C (p.Ile431Thr) single nucleotide variant Likely benign rs150984011 GRCh37 Chromosome 3, 3189825: 3189825
32 TRNT1 NM_182916.2(TRNT1): c.1292T> C (p.Ile431Thr) single nucleotide variant Likely benign rs150984011 GRCh38 Chromosome 3, 3148141: 3148141
33 TRNT1 NM_182916.2(TRNT1): c.233T> C (p.Ile78Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 3179028: 3179028
34 TRNT1 NM_182916.2(TRNT1): c.233T> C (p.Ile78Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 3137344: 3137344
35 TRNT1 NM_182916.2(TRNT1): c.284C> T (p.Ser95Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 3137395: 3137395
36 TRNT1 NM_182916.2(TRNT1): c.284C> T (p.Ser95Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 3179079: 3179079

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...

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