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ORPHA:168569

H syndrome

medium confidenceDisorder

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

419

83.2th percentile

Trials

1

Interventional, condition-specific

Researchers

1,235

Distinct authors in sample

Gene link

SLC29A3

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare cutaneous disease and a systemic inherited histiocytosis mainly characterized by hyperpigmentation, hypertrichosis, , heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

Asrar Facharzt Haque syndrome

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — SLC29A3

  2. LiteraturePresent

    419 matched papers (271 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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 (SLC29A3).

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?

419

419 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.

419 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).

271 in the last 10 years · medium confidence · 83.2th percentile (publications denominator)

Phrase hits: 419 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,235

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Chouk H4 papers · 2022

    Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia.

    Papers in Europe PMC
  2. 02
    Emile JF4 papers · 2026

    Paris-Saclay University, Versailles SQY University, EA4340-BECCOH, Assistance Publique-Hôpitaux de Paris (AP-HP), Ambroise-Paré Hospital, Smart Imaging, Service de Pathologie, Boulogne, France.

    Papers in Europe PMC
  3. 03
    Hussain K4 papers · 2021

    Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, UK.

    Papers in Europe PMC
  4. 04
    Molho-Pessach V4 papers · 2015

    Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Center for Genetic Diseases of the Skin and Hair, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

    Papers in Europe PMC
  5. 05
    Singh A4 papers · 2026

    a Division of Pharmaceutics and Pharmaceutical Chemistry , College of Pharmacy, The Ohio State University , Columbus , OH 43210 , USA.

    Papers in Europe PMC
  6. 06
    Turki H4 papers · 2024

    Department of Dermatology, Hedi Chaker Hospital, Sfax, Tunisia.

    Papers in Europe PMC
  7. 07
    Zlotogorski A4 papers · 2015

    Department of Dermatology, The Center for Genetic Diseases of the Skin and Hair, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

    Papers in Europe PMC
  8. 08
    Babay S3 papers · 2015

    Center for Genetic Diseases of the Skin and Hair, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

    Papers in Europe PMC
  9. 09
    Boussofara L3 papers · 2021

    Department of Dermatology, Anatomy and Cytology, Farhat Hached Hospital, Sousse, Tunisia.

    Papers in Europe PMC
  10. 10
    Brugger H3 papers · 2024

    Department of Anaesthesiology and Critical Care Medicine, Medical University of Innsbruck, Innsbruck, Austria.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"H syndrome" OR "Asrar Facharzt Haque syndrome"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Asrar Facharzt Haque syndrome; Histiocytosis with joint contractures and sensorineural deafness

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"H syndrome" OR "Asrar Facharzt Haque syndrome" OR "Histiocytosis with joint contractures and sensorineural deafness" OR "SLC29A3"

Recall-expansion terms: SLC29A3

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T08:27:33.940Z