ORPHA:629
Short stature due to growth hormone qualitative anomaly
Also known as: Kowarski syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
20
30.9th percentile
Trials
0
Interventional, condition-specific
Researchers
119
Distinct authors in sample
Gene link
GH1
Strong
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009879
- MeSH:C537505
- OMIM:262650
- UMLS:C1849779
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — GH1
- LiteraturePresent
20 matched papers (13 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 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)
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?
20
20 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.
20 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).
13 in the last 10 years · high confidence · 30.9th percentile (publications denominator)
Phrase hits: 20 · MeSH hits: 0
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.
- 01Chihara K2 papers · 1998
Department of Internal Medicine, Kobe University School of Medicine, Hyogo, Japan.
Papers in Europe PMC - 02de Bruin C2 papers · 2021
Leiden University Medical Center, Department of Paediatrics, Leiden, The Netherlands
Papers in Europe PMC - 03Takahashi 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 - 04Wit JM2 papers · 2021
Leiden University Medical Center, Department of Paediatrics, Leiden, The Netherlands
Papers in Europe PMC - 05Yang 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 - 06Abe H1 paper · 1998Papers in Europe PMC
- 07Ammerpohl O1 paper · 2015
Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Papers in Europe PMC - 08Argente 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 - 09Arzilli F1 paper · 2025
Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
Papers in Europe PMC - 10Baus 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 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Short stature due to growth hormone qualitative anomaly" OR "Kowarski syndrome"
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" OR "GH1" OR "isolated congenital growth hormone deficiency" OR "combined pituitary hormone deficiencies, genetic form"
Recall-expansion terms: GH1, isolated congenital growth hormone deficiency, combined pituitary hormone deficiencies, genetic form
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, 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 2026-07-26T14:37:39.890Z