ORPHA:1573
Hypotrichosis with juvenile macular degeneration
Also known as: HJMD · Hypotrichosis with juvenile macular dystrophy
Publications
95
53.6th percentile
Trials
0
Interventional, condition-specific
Researchers
606
Distinct authors in sample
Gene link
CDH3
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by macular degeneration leading to blindness.
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:0011107
- MeSH:C537698
- OMIM:601553
- UMLS:C1832162
Additional Mondo synonyms (3)
Hjmd · hypotrichosis with cone-rod dystrophy · hypotrichosis with juvenile macular dystrophy
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
Strong — CDH3
- LiteraturePresent
95 matched papers (51 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?
Yes — we know a specific gene responsible (CDH3).
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?
95
95 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.
95 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).
51 in the last 10 years · medium confidence · 53.6th percentile (publications denominator)
Phrase hits: 95 · MeSH hits: 0
Who's working on it?
606
Distinct author names in 95 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.
- 01Sprecher E10 papers · 2026
Department of Dermatology, Rambam Medical Center, Haifa 31096, Israel. e_sprecher@rambam.health.gov.il
Papers in Europe PMC - 02Leibu R8 papers · 2025
Department of Ophthalmology, Rambam Medical Center, Haifa, Israel.
Papers in Europe PMC - 03Bergman R6 papers · 2012
Department of Dermatology, Rambam Medical Center and the Bruce Rappaport Faculty of Medicine, Haifa, Israel. r_bergman@Rambam.health.gov.il
Papers in Europe PMC - 04Indelman M5 papers · 2012
Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel.
Papers in Europe PMC - 05Christiano AM4 papers · 2010Papers in Europe PMC
- 06Lurie R4 papers · 2010Papers in Europe PMC
- 07Shimomura Y4 papers · 2010
Department of Dermatology, Columbia University, New York, New York, USA.
Papers in Europe PMC - 08Ahmad W3 papers · 2016
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Papers in Europe PMC - 09Ben-Yosef T3 papers · 2025
Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
Papers in Europe PMC - 10Halford S3 papers · 2016
Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford, England.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 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
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT07487883·RECRUITING·Cadherin 3(CDH3)-Targeted PET in Lung Malignant Tumors
Conditions: Non-Small Cell Lung Cancer · Malignant Neoplasm · Pulmonary Nodules · PET/CT·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.
"Hypotrichosis with juvenile macular degeneration" OR "Hypotrichosis with juvenile macular dystrophy" OR "hypotrichosis with cone-rod dystrophy"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hypotrichosis with juvenile macular degeneration" OR "Hypotrichosis with juvenile macular dystrophy" OR "hypotrichosis with cone-rod dystrophy" OR "CDH3"
Recall-expansion terms: CDH3
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hypotrichosis"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: HJMD
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 2026-07-26T17:45:47.298Z