|
SIFD
MCID: SDR009
MIFTS: 44
|
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
57
12
73
29
6
15
39
71
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 05-Mar-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:
ICD10:
33
Orphanet: 58
Rare haematological diseases
Rare immunological diseases |
|
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 05-Mar-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, brain and bone marrow, 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 : 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. |
Human phenotypes related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay:31 (show all 24)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:616084 (Updated 05-Mar-2021)UMLS symptoms related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay:recurrent fevers |
|
|
MalaCards organs/tissues related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay:40
B Cells,
Brain,
Bone Marrow,
Bone,
Skin
|
Articles related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay:(show all 19)
|
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
|
ClinVar genetic disease variations for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay:6 (show top 50) (show all 111)
UniProtKB/Swiss-Prot genetic disease variations for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay:73
|
|
Search
GEO
for disease gene expression data for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay.
|
Pathways related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay according to GeneCards Suite gene sharing:
|
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:
|
|