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MCID: SDR009
MIFTS: 26
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Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay
Categories:
Genetic diseases, Blood diseases, Rare diseases, Immune diseases
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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
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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:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Blood diseases Immune diseases
ICD10:
34
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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. |
Diseases related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616084Human phenotypes related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay:32 (show all 16)
UMLS symptoms related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay:recurrent fevers |
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MalaCards organs/tissues related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay:41
B Cells
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Genes related to Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay:75
ClinVar genetic disease variations for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay:6
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Search
GEO
for disease gene expression data for Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay.
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