ORPHA:2315
Johanson-Blizzard syndrome
Also known as: JBS
Publications
1,899
87.3th percentile
Trials
0
Interventional, condition-specific
Researchers
1,280
Distinct authors in sample
Gene link
UBR1
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
Johanson-Blizzard syndrome (JBS) is a multiple anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable .
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
Additional Mondo synonyms (1)
pancreatic insufficiency, combined exocrine
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.”
4/6 stages with a signal
No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.
- Gene identifiedPresent
Definitive — UBR1
- LiteraturePresent
1,899 matched papers (991 in last 10 years) Source
- Phenotype characterisedPresent
105 HPO annotations (e.g. Abnormality of the pancreas; Short nose; Short stature) Source
- Animal modelPresent
1 genotype model (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (UBR1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
105
Associated phenotypes · MONDO:0009479
- Abnormality of the pancreas
- Short nose
- Short stature
- Abnormal hair pattern
- Abnormal vagina morphology
Showing 5 of 105 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- Ubr1tm1Avar/Ubr1tm1Avar [background:] involves: 129S1/Sv * C57BL/6·MGI:3654648·Mus musculus
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
1,899
1,899 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
1,899 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
991 in the last 10 years · medium confidence · 87.3th percentile (publications denominator)
Phrase hits: 300 · MeSH hits: 0
Who's working on it?
1,280
Distinct author names in 200 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.
- 01Zenker M17 papers · 2017
Institute of Human Genetics, University of Erlangen-Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany. mzenker@humgenet.uni-erlangen.de
Papers in Europe PMC - 02Sukalo M9 papers · 2017
Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Papers in Europe PMC - 03Varshavsky A7 papers · 2024
Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, California 91125, United States.
Papers in Europe PMC - 04Mayerle J6 papers · 2014
Department of Medicine A, University Medicine, Ernst-Moritz-Arndt-University Greifswald, Greifswald, Germany.
Papers in Europe PMC - 05Gao S4 papers · 2025
Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 06Kwon YT4 papers · 2021
Protein Metabolism Medical Research Center, Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 110-799, Republic of Korea. Electronic address: yok5@snu.ac.kr.
Papers in Europe PMC - 07Li Y4 papers · 2025
Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 08Rezaei N4 papers · 2017
Research Group for Immunodeficiencies, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran. nima_rezaei@farabi.tums.ac.ir
Papers in Europe PMC - 09Wu J4 papers · 2025
Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 10Alkuraya FS3 papers · 2016
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia.
Papers in Europe PMC
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).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
medium confidence · 38.6th 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · dropped 0 · fetched 2026-07-29
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (4)
- ctis·2025-521816-20-00·Authorised, recruiting·A Phase 2a, Randomized, Open-Label, Active-Controlled, Crossover Study to Evaluate Safety and Explore Efficacy of Different Doses of New Lipase NHS7108 Administered Orally in Participants with Exocrine Pancreatic Insufficiency.
skipped — LLM skipped (--skip-llm)
- ctis·2024-513188-17-03·Cancelled·Simvastatin in the Prevention of Recurrent Pancreatitis, a Triple Blind, Randomized Controlled Trial.
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN13375864·No longer recruiting·Evaluation of acceptability of a new CREON formulation containing Pancreas Powder gastro-resistant pellets for oral use in patients with cystic fibrosis ( CF) suffering from pancreatic exocrine insufficiency type of CF condition, which is characterized by maldigestion due to insufficient endogenous enzyme production and/or secretion
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN79155276·No longer recruiting·A study to learn if ZED1227 can improve continued celiac disease symptoms despite a gluten-free diet
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Johanson-Blizzard syndrome — check Associations / patient organisations on that page.
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.
("Johanson-Blizzard syndrome" OR "pancreatic insufficiency, combined exocrine") OR ("UBR1" OR "UBR1 syndrome" OR "UBR1-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Johanson-Blizzard syndrome" OR "pancreatic insufficiency, combined exocrine"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: JBS
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 2026-07-26T19:49:42.856Z