MCID: SDR009
MIFTS: 24

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 54 71 29 69
Sifd 24 71
Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome 56
Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers and Developmental Delay 24
Sifd Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
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 : 54
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 has symptoms including ataxia, nephrocalcinosis and cerebral atrophy. 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:

id Related Disease Score Top Affiliating Genes
1 sideroblastic anemia 10.0

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

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
delayed psychomotor development
seizures (in some patients)
ataxia (in some patients)
cerebral atrophy (in some patients)
more
Genitourinary- Kidneys:
nephrocalcinosis (in some patients)

Hematology:
sideroblastic anemia
hypochromic, microcytic anemia
ineffective erythropoiesis

Growth- Other:
growth retardation (in some patients)

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

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

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

Cardiovascular- Heart:
cardiomyopathy (in some patients)

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

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

Metabolic Features:
lactic acidosis (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)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 occasional (7.5%) HP:0001251
2 nephrocalcinosis 32 occasional (7.5%) HP:0000121
3 cerebral atrophy 32 occasional (7.5%) HP:0002059
4 seizures 32 occasional (7.5%) HP:0001250
5 brittle hair 32 occasional (7.5%) HP:0002299
6 global developmental delay 32 HP:0001263
7 lactic acidosis 32 occasional (7.5%) HP:0003128
8 aminoaciduria 32 occasional (7.5%) HP:0003355
9 cardiomyopathy 32 occasional (7.5%) HP:0001638
10 rod-cone dystrophy 32 occasional (7.5%) HP:0000510
11 sideroblastic anemia 32 HP:0001924
12 muscular hypotonia 32 HP:0001252
13 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
14 growth delay 32 occasional (7.5%) HP:0001510
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:

id Genetic test Affiliating Genes
1 Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay 29
2 Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers and Developmental Delay 24 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:

39
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:

71
id 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
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....