Details of Disease

General Information of Disease (ID: DISP3KCS)

• Disease Name: Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
• Synonyms: sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay; sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; SIFD; SIFD syndrome
• Definition: Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISLT2PU: Inherited sideroblastic anemia
  DISAEGPH: Immune system disorder
  DISP3KCS: Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0014487
  UMLS CUI: C4015172
  OMIM ID: 616084
  MedGen ID: 863609
  Orphanet ID: 369861

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRNT1	OTD57ILL	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.