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ORPHA:231662

Isolated growth hormone deficiency type IA

low confidenceSubtype of disorder

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

Publications

2,252

Trials

1

Interventional, condition-specific

Researchers

1,448

Distinct authors in sample

Gene link

GH1

Definitive

Readiness

3/6

Stages with a signal

Orphanet entry

Cross-references

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

Additional Mondo synonyms (8)

Illig-type growth hormone deficiency · congenital IGHD type IA · congenital isolated GH deficiency type IA · congenital isolated growth hormone deficiency type IA · growth hormone deficiency, isolated, type IA · isolated growth hormone deficiency type IA · primordial dwarfism · sexual ateleiotic dwarfism

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

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

  1. Gene identifiedPresent

    Definitive — GH1

  2. LiteraturePresent

    2,252 matched papers (1,233 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

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: Definitive.

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?

2,252

2,252 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.

2,252 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).

1,233 in the last 10 years · low confidence

Phrase hits: 2,242 · MeSH hits: 28

Open Europe PMC search

Who's working on it?

1,448

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
    Bober MB8 papers · 2025

    Division of Orthogenetics, Nemours/A.I. duPont Hospital for Children, Wilmington, Delaware, USA.

    Papers in Europe PMC
  2. 02
    Duker AL7 papers · 2026

    Division of Orthogenetics, Nemours/A.I. duPont Hospital for Children, Wilmington, Delaware, USA.

    Papers in Europe PMC
  3. 03
    Edery P5 papers · 2026

    Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France; Centre de Recherche en Neurosciences de Lyon, équipe GENDEV, INSERM U1028 CNRS UMR5292 UCBL1, Lyon, France.

    Papers in Europe PMC
  4. 04
    Putoux A5 papers · 2026

    Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France; Centre de Recherche en Neurosciences de Lyon, équipe GENDEV, INSERM U1028 CNRS UMR5292 UCBL1, Lyon, France. Electronic address: audrey.putoux@chu-lyon.fr.

    Papers in Europe PMC
  5. 05
    Wang Y5 papers · 2025

    Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

    Papers in Europe PMC
  6. 06
    Alkuraya FS4 papers · 2026

    College of Medicine, Alfaisal University, Riyadh, Saudi Arabia; Lifera Omics, Riyadh, Saudi Arabia; Department of Translational Genomics, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  7. 07
    Cuinat S4 papers · 2026

    Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France. Electronic address: silvestre.cuinat@hotmail.fr.

    Papers in Europe PMC
  8. 08
    Delous M4 papers · 2026

    Centre de Recherche en Neurosciences de Lyon, équipe GENDEV, INSERM U1028 CNRS UMR5292 UCBL1, Lyon, France.

    Papers in Europe PMC
  9. 09
    Hamada N4 papers · 2026

    Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan.

    Papers in Europe PMC
  10. 10
    Iwamoto I4 papers · 2026

    Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

low confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

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

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 2026-07-26

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.

"Isolated growth hormone deficiency type IA" OR "Congenital IGHD type IA" OR "Congenital isolated GH deficiency type IA" OR "Congenital isolated growth hormone deficiency type IA" OR "Illig-type growth hormone deficiency" OR "growth hormone deficiency, isolated, type IA" OR "primordial dwarfism" OR "sexual ateleiotic dwarfism"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Pituitary dwarfism 1

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

"Isolated growth hormone deficiency type IA" OR "Congenital IGHD type IA" OR "Congenital isolated GH deficiency type IA" OR "Congenital isolated growth hormone deficiency type IA" OR "Illig-type growth hormone deficiency" OR "growth hormone deficiency, isolated, type IA" OR "primordial dwarfism" OR "sexual ateleiotic dwarfism" OR "Pituitary dwarfism 1" OR "GH1"

Recall-expansion terms: GH1

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: 1 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh

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
  • Publication count (2252) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T10:19:28.275Z