ORPHA:1839
Hereditary mucoepithelial dysplasia
Also known as: Urban-Schosser-Spohn syndrome
Publications
116
56.7th percentile
Trials
1
Interventional, condition-specific
Researchers
632
Distinct authors in sample
Gene link
SREBF1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, immune deficiency with skin involvement characterized by clinical triad of non-scarring alopecia affecting mainly the scalp, well-demarcated mucosal erythema and psoriasiform erythematous intertriginous plaques. Follicular keratosis, keratoconjuctivitis, cataracts, angular cheilitis, fissured tongue, and recurrent infections are additional clinical features. Histopathology of mucosal lesions show characteristic findings of dyskeratotic keratinocytes, vacuolated basal cells, lack of epithelial maturation and decreased number of desmosomes.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008017
- MeSH:C536476
- OMIM:158310
- UMLS:C1274795
Additional Mondo synonyms (2)
HMD · mucoepithelial dysplasia, hereditary
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — SREBF1
- LiteraturePresent
116 matched papers (59 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 trialPresent
1 matched on ClinicalTrials.gov
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 (SREBF1).
GenCC classification: Strong.
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?
116
116 papers have ever been published on this condition (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.
116 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).
59 in the last 10 years · medium confidence · 56.7th percentile (publications denominator)
Phrase hits: 116 · MeSH hits: 0
Who's working on it?
632
Distinct author names in 116 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Witkop CJ Jr4 papers · 1989Papers in Europe PMC
- 02White JG3 papers · 1982Papers in Europe PMC
- 03Agrawal KK2 papers · 2023
Department of Prosthodontics and Dental Material Sciences, Faculty of Dental Sciences, C. S. M. Medical University, Lucknow, UP India ; Flat No. 103, Teacher's Apartment, T.G. Hostel Campus, Sitapur Road, Lucknow, UP 226003 India.
Papers in Europe PMC - 04Boralevi F2 papers · 2020
Paediatric Dermatology Unit, Hôpital Pellegrin, Bordeaux, France. franck.boralevi@chu-bordeaux.fr
Papers in Europe PMC - 05Cherevatova TB2 papers · 2026
Research Centre for Medical Genetics, Moscow, Russia.
Papers in Europe PMC - 06Choong PF2 papers · 2009Papers in Europe PMC
- 07Clarke AJ2 papers · 2022
Division of Cancer & Genetics, Institute of Medical Genetics, Cardiff University School of Medicine, Cardiff, CF10 3AT, UK.
Papers in Europe PMC - 08Dahl MV2 papers · 1989Papers in Europe PMC
- 09Goel P2 papers · 2023
Department of Orthodontics, Faculty of Dental Sciences, Saraswati Dental College and Hospital, Lucknow, UP India.
Papers in Europe PMC - 10King RA2 papers · 1979Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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.
"Hereditary mucoepithelial dysplasia" OR "Urban-Schosser-Spohn syndrome" OR "mucoepithelial dysplasia, hereditary"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary mucoepithelial dysplasia" OR "Urban-Schosser-Spohn syndrome" OR "mucoepithelial dysplasia, hereditary" OR "SREBF1"
Recall-expansion terms: SREBF1
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: HMD
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 2026-07-26T18:18:05.490Z