ORPHA:231692
Isolated growth hormone deficiency type III
Also known as: Congenital IGHD type III · Congenital isolated GH deficiency type III · Congenital isolated growth hormone deficiency type III · X-linked IGHD · X-linked isolated growth hormone deficiency
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
18
27.5th percentile
Trials
0
Interventional, condition-specific
Researchers
150
Distinct authors in sample
Gene link
BTK
Strong
Readiness
2/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010615
- MeSH:C537149
- OMIM:307200
- UMLS:C0472813
Additional Mondo synonyms (6)
Fleisher syndrome · congenital IGHD type III · congenital isolated GH deficiency type III · congenital isolated growth hormone deficiency type III · isolated growth hormone deficiency type III · isolated growth hormone deficiency, type IIi, with agammaglobulinemia, X-linked recessive
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 — BTK
- LiteraturePresent
18 matched papers (10 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 (BTK).
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?
18
18 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=5449) is 41.
18 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).
10 in the last 10 years · high confidence · 27.5th percentile (publications denominator)
Phrase hits: 18 · MeSH hits: 0
Who's working on it?
150
Distinct author names in 18 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.
- 01Mullis PE2 papers · 2010
Inselspital, Division of Paediatric Endocrinology, Diabetology&Metabolism, University Children's Hospital, Bern, Switzerland. primus.mullis@insel.ch
Papers in Europe PMC - 02Abbott KM1 paper · 2021
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Papers in Europe PMC - 03Abraham RS1 paper · 2025
Nationwide Children's Hospital, Columbus, Ohio. Electronic address: Roshini.Abraham@nationwidechildrens.org.
Papers in Europe PMC - 04Al Dhanhani H1 paper · 2020
Department of Pediatrics, Tawam Hospital, Alain, Abu Dhabi, UAE.
Papers in Europe PMC - 05Al-Hammadi S1 paper · 2020
Department of Pediatrics, College of Medicine and Health Sciences, UAE University, Abu Dhabi, UAE.
Papers in Europe PMC - 06
- 07Alkuwaiti NS1 paper · 2020
Department of Pediatrics, Tawam Hospital, Alain, Abu Dhabi, UAE.
Papers in Europe PMC - 08Almarzooqi F1 paper · 2020
Department of Pediatrics, College of Medicine and Health Sciences, UAE University, Abu Dhabi, UAE.
Papers in Europe PMC - 09Altman RB1 paper · 2017
Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA. rbaltman@stanford.edu.
Papers in Europe PMC - 10Amselem S1 paper · 2010Papers 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.
"Isolated growth hormone deficiency type III" OR "Congenital IGHD type III" OR "Congenital isolated GH deficiency type III" OR "Congenital isolated growth hormone deficiency type III" OR "X-linked IGHD" OR "X-linked isolated growth hormone deficiency" OR "Fleisher syndrome" OR "isolated growth hormone deficiency, type IIi, with agammaglobulinemia, X-linked recessive"
MeSH descriptor terms unioned into the query: Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated growth hormone deficiency type III" OR "Congenital IGHD type III" OR "Congenital isolated GH deficiency type III" OR "Congenital isolated growth hormone deficiency type III" OR "X-linked IGHD" OR "X-linked isolated growth hormone deficiency" OR "Fleisher syndrome" OR "isolated growth hormone deficiency, type IIi, with agammaglobulinemia, X-linked recessive" OR "Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked" OR "BTK" OR "isolated congenital growth hormone deficiency" OR "combined pituitary hormone deficiencies, genetic form"
Recall-expansion terms: BTK, 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, mesh, 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 2026-07-27T10:20:12.173Z