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ORPHA:629

Short stature due to growth hormone qualitative anomaly

high confidenceSubtype of disorder

Also known as: Kowarski syndrome

Publications

24

33.4th percentile

Trials

0

Interventional, condition-specific

Researchers

119

Distinct authors in sample

Gene link

GH1

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is .

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.

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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — GH1

  2. LiteraturePresent

    24 matched papers (16 in last 10 years) Source

  3. Phenotype characterisedPresent

    4 HPO annotations (e.g. Abnormality of metabolism/homeostasis; Pituitary dwarfism; Growth delay) 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (GH1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

4

Associated phenotypes · MONDO:0009879

  • Abnormality of metabolism/homeostasis
  • Pituitary dwarfism
  • Growth delay
  • Delayed skeletal maturation

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?

24

24 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=3967) is 59.

24 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).

16 in the last 10 years · high confidence · 33.4th percentile (publications denominator)

Phrase hits: 20 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

119

Distinct author names in 20 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
    Chihara K2 papers · 1998

    Department of Internal Medicine, Kobe University School of Medicine, Hyogo, Japan.

    Papers in Europe PMC
  2. 02
    de Bruin C2 papers · 2021

    Leiden University Medical Center, Department of Paediatrics, Leiden, The Netherlands

    Papers in Europe PMC
  3. 03
    Takahashi Y2 papers · 1998

    Third Division, Department of Medicine, Kobe University School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650, Japan.

    Papers in Europe PMC
  4. 04
    Wit JM2 papers · 2021

    Leiden University Medical Center, Department of Paediatrics, Leiden, The Netherlands

    Papers in Europe PMC
  5. 05
    Yang X2 papers · 2024

    Department of Pediatrics, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, No. 1095 Jie Fang Avenue, Hankou, Wuhan, 430030, People's Republic of China.

    Papers in Europe PMC
  6. 06
    Abe H1 paper · 1998
    Papers in Europe PMC
  7. 07
    Ammerpohl O1 paper · 2015

    Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.

    Papers in Europe PMC
  8. 08
    Argente J1 paper · 2019

    Hospital Infantil Universitario Niño Jesús, Universidad Autónoma de Madrid, CIBER de Fisiopatología de la Obesidad y Nutrición, Instituto de Salud Carlos III and IMDEA Institute, Madrid, Spain.

    Papers in Europe PMC
  9. 09
    Arzilli F1 paper · 2025

    Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.

    Papers in Europe PMC
  10. 10
    Baus I1 paper · 2015

    Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.

    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).

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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 2026-07-29

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 Short stature due to growth hormone qualitative anomaly — 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.

("Short stature due to growth hormone qualitative anomaly" OR "Kowarski syndrome") OR ("GH1 syndrome" OR "GH1-related")

Run this search on Europe PMC

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

"Short stature due to growth hormone qualitative anomaly" OR "Kowarski syndrome"

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

Query health: ok — strategies attempted: phrase; 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 2026-07-26T14:37:39.890Z