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ORPHA:79495

X-linked congenital generalized hypertrichosis

high confidenceSubtype of disorder

Also known as: Congenital generalized hypertrichosis, Macias-Flores type · Macias Flores-Garcia Cruz-Rivera syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

12

25.8th percentile

Trials

0

Interventional, condition-specific

Researchers

109

Distinct authors in sample

Gene link

—

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    12 matched papers (8 in last 10 years) Source

  3. Phenotype characterisedPresent

    3 HPO annotations (e.g. Scoliosis; Congenital, generalized hypertrichosis; Hirsutism) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

3

Associated phenotypes · MONDO:0010614

  • Scoliosis
  • Congenital, generalized hypertrichosis
  • Hirsutism

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

12 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

8 in the last 10 years · high confidence · 25.8th percentile (publications denominator)

Phrase hits: 12 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Ao 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
  2. 02
    Araujo 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
  3. 03
    Bajgelman 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
  4. 04
    Bhoite K1 paper · 2026

    Department of Dermatology, Seth Gordhandas Sunderdas Medical College and King Edward Memorial Hospital, Mumbai, Maharashtra, India.

    Papers in Europe PMC
  5. 05
    Black 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
  6. 06
    Bobbo 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
  7. 07
    Bowl 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
  8. 08
    Boyling A1 paper · 2022

    Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, Australia.

    Papers in Europe PMC
  9. 09
    Carraro 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
  10. 10
    Cepeda-Valdes R1 paper · 2013
    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). 10 trials are registered for hypertrichosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for X-linked congenital generalized hypertrichosis — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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"

Run this search on Europe PMC

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"

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; 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