ORPHA:631
Non-acquired isolated growth hormone deficiency
Also known as: Congenital IGHD · Congenital isolated GH deficiency · Congenital isolated growth hormone deficiency
Publications
1,218
90.2th percentile
Trials
3
Interventional, condition-specific
Researchers
1,109
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare non-acquired pituitary hormone deficiency characterized by growth deficiency, delayed bone age, and short stature of variable severity and age of onset, and with variable response to treatment with recombinant human growth hormone, depending on the respective subtype of the disease. Hormone deficiency may be quantitative or qualitative in nature.
How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0000050
- UMLS:C5679572
Additional Mondo synonyms (5)
ICGHD · congenital IGHD · congenital isolated GH deficiency · congenital isolated growth hormone deficiency · isolated growth hormone deficiency
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1,218 matched papers (501 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 trialPresent
3 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
1,218
1,218 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=5449) is 41.
1,218 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).
501 in the last 10 years · high confidence · 90.2th percentile (publications denominator)
Phrase hits: 1,218 · MeSH hits: 0
Who's working on it?
1,109
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.
- 01Salvatori R15 papers · 2026
Division of Endocrinology and Metabolism, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
Papers in Europe PMC - 02Aguiar-Oliveira MH13 papers · 2025
Division of Endocrinology, Federal University of Sergipe, Aracaju, Sergipe, Brazil.
Papers in Europe PMC - 03Oliveira CRP9 papers · 2026
Division of Endocrinology, Federal University of Sergipe, Aracaju, Sergipe, Brazil.
Papers in Europe PMC - 04Campos VC8 papers · 2026
Division of Endocrinology, Federal University of Sergipe, Aracaju, Sergipe, Brazil.
Papers in Europe PMC - 05Oliveira-Santos AA8 papers · 2024
Division of Endocrinology, Federal University of Sergipe, Aracaju, Sergipe, Brazil.
Papers in Europe PMC - 06Barros-Oliveira CS6 papers · 2025
Division of Endocrinology, Federal University of Sergipe, Aracaju, Sergipe, Brazil.
Papers in Europe PMC - 07Brue T6 papers · 2026
Department of Endocrinology, APHM, Aix Marseille Univ, INSERM, MMG, MarMaRa Institute, UMR 1251, La Conception University Hospital, 13385 Marseille, France.
Papers in Europe PMC - 08Melo EV6 papers · 2024
Division of Endocrinology, Federal University of Sergipe, Aracaju, Sergipe, Brazil.
Papers in Europe PMC - 09Santos EG6 papers · 2024
Division of Endocrinology, Federal University of Sergipe, Aracaju, Sergipe, Brazil.
Papers in Europe PMC - 10Kauli R5 papers · 2019
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
3
interventional trials for this specific condition
3 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).
high confidence · 85.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
3 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
2 observational studies match 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
- NCT03812913·RECRUITING·Neuropsychological Assessment of Children and Adolescents With Turner Syndrome
Conditions: Turner Syndrome · Isolated Growth Hormone Deficiency · Cognitive Functions · Social Cognition·Matched via name phrase
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.
"Non-acquired isolated growth hormone deficiency" OR "Congenital IGHD" OR "Congenital isolated GH deficiency" OR "Congenital isolated growth hormone deficiency" OR "ICGHD" OR "isolated growth hormone deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Non-acquired isolated growth hormone deficiency" OR "Congenital IGHD" OR "Congenital isolated GH deficiency" OR "Congenital isolated growth hormone deficiency" OR "ICGHD" OR "isolated growth hormone deficiency"
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: 3 interventional · 2 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 2026-07-26T14:37:57.665Z