ORPHA:79495
X-linked congenital generalized hypertrichosis
Also known as: Congenital generalized hypertrichosis, Macias-Flores type · Macias Flores-Garcia Cruz-Rivera syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
12
24.9th percentile
Trials
0
Interventional, condition-specific
Researchers
109
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
X-linked generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010614
- MeSH:C538388
- OMIM:307150
- UMLS:C5887323
Additional Mondo synonyms (3)
congenital generalised hypertrichosis, Macias-Flores type · congenital generalized hypertrichosis, Macias-Flores type · hypertrichosis, congenital generalized, X-linked dominant
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
12 matched papers (8 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; 10 for broader category hypertrichosis
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?
12
12 papers have ever been indexed 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.
12 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).
8 in the last 10 years · high confidence · 24.9th percentile (publications denominator)
Phrase hits: 12 · MeSH hits: 0
Who's working on it?
109
Distinct author names in 12 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.
- 01Ao Y1 paper · 2011
McKusick-Zhang Center for Genetic Medicine and State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100005, China.
Papers in Europe PMC - 02Araujo EP1 paper · 2021
Laboratory of Cell Signaling, Obesity and Comorbidities Research Center, University of Campinas, Campinas, 13083-970, Sao Paulo, Brazil.
Papers in Europe PMC - 03Bajgelman MC1 paper · 2021
Brazilian Center for Research in Energy and Materials, Brazilian Biosciences National Laboratory, Campinas, 13083-970, Sao Paulo, Brazil.
Papers in Europe PMC - 04Bhoite K1 paper · 2026
Department of Dermatology, Seth Gordhandas Sunderdas Medical College and King Edward Memorial Hospital, Mumbai, Maharashtra, India.
Papers in Europe PMC - 05Black GC1 paper · 2025
Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
Papers in Europe PMC - 06Bobbo VCD1 paper · 2021
Laboratory of Cell Signaling, Obesity and Comorbidities Research Center, University of Campinas, Campinas, 13083-970, Sao Paulo, Brazil.
Papers in Europe PMC - 07Bowl MR1 paper · 2020
Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK.
Papers in Europe PMC - 08Boyling A1 paper · 2022
Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, Australia.
Papers in Europe PMC - 09Carraro RS1 paper · 2021
Laboratory of Cell Signaling, Obesity and Comorbidities Research Center, University of Campinas, Campinas, 13083-970, Sao Paulo, Brazil.
Papers in Europe PMC - 10Cepeda-Valdes R1 paper · 2013Papers 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). 10 trials are registered for hypertrichosis, 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.
high 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.
10 interventional trials matched hypertrichosis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: hypertrichosis
10
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.
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.
"X-linked congenital generalized hypertrichosis" OR "Congenital generalized hypertrichosis, Macias-Flores type" OR "Macias Flores-Garcia Cruz-Rivera syndrome" OR "congenital generalised hypertrichosis, Macias-Flores type" OR "hypertrichosis, congenital generalized, X-linked dominant"
MeSH descriptor terms unioned into the query: Hypertrichosis congenital generalized X-linked
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked congenital generalized hypertrichosis" OR "Congenital generalized hypertrichosis, Macias-Flores type" OR "Macias Flores-Garcia Cruz-Rivera syndrome" OR "congenital generalised hypertrichosis, Macias-Flores type" OR "hypertrichosis, congenital generalized, X-linked dominant" OR "Hypertrichosis congenital generalized X-linked" OR "hypertrichosis lanuginosa congenita"
Recall-expansion terms: hypertrichosis lanuginosa congenita
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hypertrichosis"
Query health: suspect — strategies attempted: phrase, mesh, 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
Ingested 2026-07-27T02:30:38.787Z