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ORPHA:631

Non-acquired isolated growth hormone deficiency

high confidenceDisorder

Also known as: Congenital IGHD · Congenital isolated GH deficiency · Congenital isolated growth hormone deficiency

Publications

1,218

83.3th percentile

Trials

3

Interventional, condition-specific

Researchers

1,109

Distinct authors in sample

Gene link

—

Readiness

4/6

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).

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,218 matched papers (501 in last 10 years) Source

  3. Phenotype characterisedPresent

    83 HPO annotations (e.g. Delayed puberty; Decreased response to growth hormone stimulation test; Abnormally high-pitched voice) Source

  4. Animal modelPresent

    7 genotype models (Mus musculus, Rattus norvegicus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

83

Associated phenotypes · MONDO:0000050

  • Delayed puberty
  • Decreased response to growth hormone stimulation test
  • Abnormally high-pitched voice
  • Neonatal hypoglycemia
  • Prominent forehead

Showing 5 of 83 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

Model associations linked to this Mondo ID

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?

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=3967) is 59.

1,218 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).

501 in the last 10 years · high confidence · 83.3th percentile (publications denominator)

Phrase hits: 1,218 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Salvatori R15 papers · 2026

    Division of Endocrinology and Metabolism, The Johns Hopkins University School of Medicine, Baltimore, Maryland.

    Papers in Europe PMC
  2. 02
    Aguiar-Oliveira MH13 papers · 2025

    Division of Endocrinology, Federal University of Sergipe, Aracaju, Sergipe, Brazil.

    Papers in Europe PMC
  3. 03
    Oliveira CRP9 papers · 2026

    Division of Endocrinology, Federal University of Sergipe, Aracaju, Sergipe, Brazil.

    Papers in Europe PMC
  4. 04
    Campos VC8 papers · 2026

    Division of Endocrinology, Federal University of Sergipe, Aracaju, Sergipe, Brazil.

    Papers in Europe PMC
  5. 05
    Oliveira-Santos AA8 papers · 2024

    Division of Endocrinology, Federal University of Sergipe, Aracaju, Sergipe, Brazil.

    Papers in Europe PMC
  6. 06
    Barros-Oliveira CS6 papers · 2025

    Division of Endocrinology, Federal University of Sergipe, Aracaju, Sergipe, Brazil.

    Papers in Europe PMC
  7. 07
    Brue 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
  8. 08
    Melo EV6 papers · 2024

    Division of Endocrinology, Federal University of Sergipe, Aracaju, Sergipe, Brazil.

    Papers in Europe PMC
  9. 09
    Santos EG6 papers · 2024

    Division of Endocrinology, Federal University of Sergipe, Aracaju, Sergipe, Brazil.

    Papers in Europe PMC
  10. 10
    Kauli 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 11 September 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

high confidence · 86.7th 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

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Non-acquired isolated growth hormone deficiency — 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.

"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"

Run this search on Europe PMC

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