MCID: SDR009
MIFTS: 25

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

Categories: Genetic diseases, Immune diseases, Blood 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 53 71 28 69
Sifd 53 71
Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome 55
Sifd Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
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:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



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

OMIM : 53 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 has symptoms including ataxia, seizures and global developmental delay. 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.

UniProtKB/Swiss-Prot : 71 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:

# Related Disease Score Top Affiliating Genes
1 trnt1 deficiency 11.8

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

Symptoms via clinical synopsis from OMIM:

53
Immunology:
recurrent fevers
hypogammaglobulinemia
b-cell lymphopenia
reduction of mature b cells

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

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
delayed psychomotor development
seizures (in some patients)
cerebellar signs (in some patients)
ataxia (in some patients)
more
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:

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

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 28 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:

38
B Cells

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

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

# Title Authors Year
1
Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts. ( 27317422 )
2016
2
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). ( 25193871 )
2014
3
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). ( 23553769 )
2013

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:

71
# 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
# 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.668T> C (p.Ile223Thr) single nucleotide variant Pathogenic rs370011798 GRCh38 Chromosome 3, 3146489: 3146489
3 TRNT1 NM_001302946.1(TRNT1): c.497T> C (p.Leu166Ser) single nucleotide variant Pathogenic rs606231289 GRCh38 Chromosome 3, 3144599: 3144599
4 TRNT1 NM_001302946.1(TRNT1): c.461C> T (p.Thr154Ile) single nucleotide variant Pathogenic rs606231290 GRCh38 Chromosome 3, 3140628: 3140628
5 TRNT1 NM_182916.2(TRNT1): c.1142_1143insATGT (p.Trp381Terfs) insertion Pathogenic rs606231291 GRCh38 Chromosome 3, 3147991: 3147992
6 TRNT1 NM_001302946.1(TRNT1): c.1192dupA (p.Ser398Lysfs) duplication Pathogenic rs878853266 GRCh38 Chromosome 3, 3148101: 3148101

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...

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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41 MeSH
42 MESH via Orphanet
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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