Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome (SIFD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

MONDO:0014487

Also known as:SIFDSIFD syndromesideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay

Overview

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.

GeneticsAutosomal recessive · TRNT1 (chr 3)

OnsetINFANTILE

ResearchLimited published research (4 articles)

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616084

Orphanet

European rare disease database

Orphanet:369861

GARD

Genetic and Rare Diseases Info Center

GARD:17586

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Features include always present findings: Hypochromic microcytic anemia, Sideroblastic anemia, and Brittle hair; and very common findings: Global developmental delay and Decreased total B cell count. 25 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Seizure, Ataxia, Brain shrinkage (cerebral atrophy)
Muscles	5	Low muscle tone (hypotonia), Generalized hypotonia, Axial hypotonia
Blood and immune system	3	Hypochromic microcytic anemia, Sideroblastic anemia, Enlarged spleen (splenomegaly)
Kidneys and urinary system	1	Nephrocalcinosis
Digestive system	1	Enlarged spleen (splenomegaly)
Metabolism	1	Periodic fever
Ears	1	Inner ear hearing loss (sensorineural hearing impairment)
Heart and blood vessels	1	Heart muscle disease (cardiomyopathy)
Growth and development	1	Growth delay

Age of onset: infancy.

Kisho

congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

Overview

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

Overview

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications