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

Alias:
Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome
Sifd
Sifd Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay, also known as congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome, is related to microcytic anemia and sideroblastic anemia, 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 tRNA processing and Mitochondrial iron-sulfur cluster biogenesis. Affiliated tissues include b cells and bone marrow, and related phenotypes are growth delay and brittle hair
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
18
83
19

Medical Symptom

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Gene & Mutation

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References Literature

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