ORPHA:369861
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Also known as: SIFD syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
17
32th percentile
Trials
0
Interventional, condition-specific
Researchers
136
Distinct authors in sample
Gene link
TRNT1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
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, , , and sensorineural deafness.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014487
- OMIM:616084
- UMLS:C4015172
Additional Mondo synonyms (1)
SIFD
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — TRNT1
- LiteraturePresent
17 matched papers (14 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 1 for broader category sideroblastic anemia
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (TRNT1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
17
17 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
17 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
14 in the last 10 years · medium confidence · 32th percentile (publications denominator)
Phrase hits: 17 · MeSH hits: 0
Who's working on it?
136
Distinct author names in 17 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Chen D2 papers · 2021
Department of Rheumatology and Immunology, Anhui Provincial Children's Hospital, China.
Papers in Europe PMC - 02Chen Y2 papers · 2021
Department of Rheumatology and Immunology, Anhui Provincial Children's Hospital, China. Electronic address: chenyuqing_815@163.com.
Papers in Europe PMC - 03Gao Y2 papers · 2021
Department of Rheumatology and Immunology, Anhui Provincial Children's Hospital, China.
Papers in Europe PMC - 04Hang S2 papers · 2021
Department of Rheumatology and Immunology, Anhui Provincial Children's Hospital, China.
Papers in Europe PMC - 05He X2 papers · 2021
Department of Rheumatology and Immunology, Anhui Provincial Children's Hospital, China.
Papers in Europe PMC - 06Holcik M2 papers · 2015
Children's Hospital of Eastern Ontario Research Institute.
Papers in Europe PMC - 07Jolles S2 papers · 2025
Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, United Kingdom;
Papers in Europe PMC - 08Wang J2 papers · 2021
Department of Endocrinology, Rheumatism and Immunology, Anhui Provincial Children's Hospital, Hefei, Anhui 230051, China. 894839405@qq.com.
Papers in Europe PMC - 09Abraham RS1 paper · 2025
Nationwide Children's Hospital, Columbus, Ohio. Electronic address: Roshini.Abraham@nationwidechildrens.org.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 1 trial are registered for sideroblastic anemia, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
1 interventional trial matched sideroblastic anemia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: sideroblastic anemia
1
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome" OR "SIFD syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome" OR "SIFD syndrome" OR "TRNT1" OR "inherited sideroblastic anemia"
Recall-expansion terms: TRNT1, inherited sideroblastic anemia
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"sideroblastic anemia"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: SIFD
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T14:48:59.951Z