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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

2,256

Trials

1

Interventional, condition-specific

Researchers

1,448

Distinct authors in sample

Gene link

GH1

Definitive

Readiness

5/6

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — GH1

  2. LiteraturePresent

    2,256 matched papers (1,236 in last 10 years) Source

  3. Phenotype characterisedPresent

    9 HPO annotations (e.g. Persistent open anterior fontanelle; High forehead; Reduced circulating growth hormone concentration) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

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

  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)

9

Associated phenotypes · MONDO:0009876

  • Persistent open anterior fontanelle
  • High forehead
  • Reduced circulating growth hormone concentration
  • Depressed nasal ridge
  • Hypoglycemia

Showing 5 of 9 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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?

2,256

2,256 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.

2,256 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).

1,236 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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th 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

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

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).

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 Isolated growth hormone deficiency type IA — 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.

("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 (MESH:"Pituitary dwarfism 1") OR ("GH1 syndrome" OR "GH1-related")

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"

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; 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 (2256) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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