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ORPHA:168569

H syndrome

low confidenceDisorder

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

Publications

966

Trials

1

Interventional, condition-specific

Researchers

1,235

Distinct authors in sample

Gene link

SLC29A3

Definitive

Readiness

4/6

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — SLC29A3

  2. LiteraturePresent

    966 matched papers (695 in last 10 years) Source

  3. Phenotype characterisedPresent

    100 HPO annotations (e.g. Abnormality of the kidney; Enlarged kidney; Cleft upper lip) 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 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)

100

Associated phenotypes · MONDO:0011273

  • Abnormality of the kidney
  • Enlarged kidney
  • Cleft upper lip
  • Gynecomastia
  • Hepatosplenomegaly

Showing 5 of 100 — open Monarch for the full list.

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?

966

966 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

966 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).

695 in the last 10 years · low confidence

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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th 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

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 40 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · 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).

Uncertain / not reviewed (40)

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 H syndrome — 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.

("H syndrome" OR "Asrar Facharzt Haque syndrome") OR (MESH:"Asrar Facharzt Haque syndrome" OR MESH:"Histiocytosis with joint contractures and sensorineural deafness") OR ("SLC29A3" OR "SLC29A3 syndrome" OR "SLC29A3-related")

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"

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; 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
  • Publication count (966) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

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