congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Findings
No curated finding names congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0014487), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Brittle hairHPOHP:0002299
- 3 of 3 reported patients
- Hypochromic microcytic anemiaHPOHP:0004840
- 12 of 12 reported patients
- Sideroblastic anemiaHPOHP:0001924
- 12 of 12 reported patients · Infantile onset
- Decreased total B cell countHPOHP:0010976
- 11 of 12 reported patients
- Global developmental delayHPOHP:0001263
- 11 of 12 reported patients
- AminoaciduriaHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TRNT1HGNC:17341
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- Also called
- SIFDSIFD syndrome