ORPHA:530
Lipoid proteinosis
Also known as: Hyalinosis cutis et mucosae · Urbach-Wiethe disease
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,248
Trials
0
Interventional, condition-specific
Researchers
903
Distinct authors in sample
Gene link
ECM1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.
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:0009530
- MeSH:D008065
- OMIM:247100
- UMLS:C0023795
- NCIT:C84829
Additional Mondo synonyms (4)
hyalinosis cutis et mucosae · lipid proteinosis · lipoid proteinosis · lipoproteinosis
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — ECM1
- LiteraturePresent
1,248 matched papers (345 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 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 (ECM1).
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?
1,248
1,248 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=5449) is 41.
1,248 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).
345 in the last 10 years · low confidence
Phrase hits: 1,248 · MeSH hits: 0
Who's working on it?
903
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.
- 01An I5 papers · 2024
Sanlıurfa Training and Research Hospital, Department of Dermatology, Sanlıurfa, Turkey.
Papers in Europe PMC - 02Terburg D4 papers · 2025
Department of Psychiatry and Mental Health, University of Cape Town, J-Block, Groote Schuur Hospital, Cape Town, South Africa; Experimental Psychology, Utrecht University, Utrecht, The Netherlands.
Papers in Europe PMC - 03van Honk J4 papers · 2025
Department of Psychiatry and Mental Health, University of Cape Town, J-Block, Groote Schuur Hospital, Cape Town, South Africa; Experimental Psychology, Utrecht University, Utrecht, The Netherlands; Institute of Infectious Diseases and Molecular Medicine (IDM), University of Cape Town, Cape Town, South Africa.
Papers in Europe PMC - 04An İ3 papers · 2025
Department of Dermatology, Sanliurfa Training and Research Hospital, Sanliurfa, Turkey.
Papers in Europe PMC - 05Enk A3 papers · 2018
Hautklinik, Universitätsklinikum Heidelberg, Ruprecht-Karls-Universität Heidelberg, Deutschland.
Papers in Europe PMC - 06Aksoy M2 papers · 2022
Harran University Medical Faculty, Department of Dermatology, Sanlıurfa, Turkey.
Papers in Europe PMC - 07Bai X2 papers · 2021
Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 100730 Beijing, China; Department of Medical Genetics & McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing 100005, China.
Papers in Europe PMC - 08Chen L2 papers · 2024
Department of Ophthalmology, China Medical University The Fourth People's Hospital of Shenyang, Shenyang, China.
Papers in Europe PMC - 09Crabbs TA2 papers · 2026
Experimental Pathology Laboratories, Inc., Durham, North Carolina, USA.
Papers in Europe PMC - 10Das S2 papers · 2026
From the Department of Dermatology, Nil Ratan Sircar Medical College, Kolkata, West Bengal, India E-mail: achararun@rediffmail.com.
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 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.
low 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Lipoid proteinosis" OR "Hyalinosis cutis et mucosae" OR "Urbach-Wiethe disease" OR "lipid proteinosis" OR "lipoproteinosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Lipoid proteinosis" OR "Hyalinosis cutis et mucosae" OR "Urbach-Wiethe disease" OR "lipid proteinosis" OR "lipoproteinosis" OR "ECM1"
Recall-expansion terms: ECM1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (1248) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T14:13:09.944Z