ORPHA:444
Marie Unna hereditary hypotrichosis
Also known as: Hypotrichosis, Marie Unna type · MUHH · Marie Unna congenital hypotrichosis
Publications
110
48.5th percentile
Trials
0
Interventional, condition-specific
Researchers
580
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and hair loss beginning around puberty.
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:0018631
- MeSH:C535912
- UMLS:C2931059
Additional Mondo synonyms (3)
HR hypotrichosis · hypotrichosis caused by mutation in HR · hypotrichosis, Marie Unna type
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
110 matched papers (38 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; 19 for broader category hypotrichosis
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
110
110 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.
110 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).
38 in the last 10 years · medium confidence · 48.5th percentile (publications denominator)
Phrase hits: 110 · MeSH hits: 0
Who's working on it?
580
Distinct author names in 110 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.
- 01Yang S8 papers · 2021
Institute of Dermatology and Department of Dermatology at No.1 Hospital, Anhui Medical University, Hefei, China.
Papers in Europe PMC - 02Zhang XJ7 papers · 2014Papers in Europe PMC
- 03Ahmad W5 papers · 2007Papers in Europe PMC
- 04Betz RC5 papers · 2023
Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany.
Papers in Europe PMC - 05Gao M5 papers · 2014Papers in Europe PMC
- 06Kim JK5 papers · 2018
Department of Biomedical Sciences, The Catholic University of Korea, 505 Banpo-dong, Seocho-ku, Seoul, Korea.
Papers in Europe PMC - 07Leal SM5 papers · 2007Papers in Europe PMC
- 08Shimomura Y5 papers · 2026
Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Papers in Europe PMC - 09Wang J5 papers · 2024
Department of Dermatology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, and Henan University People's Hospital, Zhengzhou, China.
Papers in Europe PMC - 10Yoon SK5 papers · 2014
Department of Medical Lifesciences, The Catholic University of Korea, Seoul, Republic of Korea. Electronic address: sjkyoon@catholic.ac.kr.
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). 19 trials are registered for hypotrichosis, 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.
19 interventional trials matched hypotrichosis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: hypotrichosis
19
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.
Recruiting under the broader category
- NCT05723198·RECRUITING·A Study of Baricitinib (LY3009104) in Children From 6 Years to Less Than 18 Years of Age With Alopecia Areata
Conditions: Areata Alopecia · Alopecia · Hypotrichosis · Hair Diseases·Matched via name phrase
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.
"Marie Unna hereditary hypotrichosis" OR "Hypotrichosis, Marie Unna type" OR "Marie Unna congenital hypotrichosis" OR "HR hypotrichosis" OR "hypotrichosis caused by mutation in HR"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Marie Unna hereditary hypotrichosis" OR "Hypotrichosis, Marie Unna type" OR "Marie Unna congenital hypotrichosis" OR "HR hypotrichosis" OR "hypotrichosis caused by mutation in HR"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hypotrichosis"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MUHH
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 2026-07-26T13:51:29.069Z