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ORPHA:231679

Isolated growth hormone deficiency type II

high confidenceSubtype of disorder

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

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

36

35.5th percentile

Trials

0

Interventional, condition-specific

Researchers

206

Distinct authors in sample

Gene link

GH1

Strong

Readiness

4/6

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 (4)

congenital IGHD type II · congenital isolated GH deficiency type II · congenital isolated growth hormone deficiency type II · growth hormone deficiency, isolated, type II

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

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — GH1

  2. LiteraturePresent

    36 matched papers (19 in last 10 years) Source

  3. Phenotype characterisedPresent

    6 HPO annotations (e.g. Anterior pituitary hypoplasia; Pituitary dwarfism; Decreased circulating insulin-like growth factor 1 concentration) Source

  4. Animal modelPresent

    2 genotype models (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 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 (GH1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

6

Associated phenotypes · MONDO:0008250

  • Anterior pituitary hypoplasia
  • Pituitary dwarfism
  • Decreased circulating insulin-like growth factor 1 concentration
  • Decreased response to growth hormone stimulation test
  • Severe short stature

Showing 5 of 6 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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?

36

36 papers have ever been published on this condition (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=3967) is 59.

36 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).

19 in the last 10 years · high confidence · 35.5th percentile (publications denominator)

Phrase hits: 32 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

206

Distinct author names in 32 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.

  1. 01
    Phillips JA 3rd6 papers · 2011
    Papers in Europe PMC
  2. 02
    Patton JG5 papers · 2009
    Papers in Europe PMC
  3. 03
    Wang L4 papers · 2026

    BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.

    Papers in Europe PMC
  4. 04
    Ariyasu D3 papers · 2019

    Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto 860-0811, Japan. daisukeariyasu@gmail.com.

    Papers in Europe PMC
  5. 05
    Ambrosio MR2 papers · 2014
    Papers in Europe PMC
  6. 06
    Araki K2 papers · 2019

    Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan.

    Papers in Europe PMC
  7. 07
    Cogan JD2 papers · 2011
    Papers in Europe PMC
  8. 08
    Dedov II2 papers · 2006
    Papers in Europe PMC
  9. 09
    Evgrafov OV2 papers · 2006
    Papers in Europe PMC
  10. 10
    Fofanova OV2 papers · 2006

    Endocrinological Research Center, Russian Academy of Medical Sciences. olga-vf@yandex.ru

    Papers 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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.

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 II — 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 II" OR "Congenital IGHD type II" OR "Congenital isolated GH deficiency type II" OR "Congenital isolated growth hormone deficiency type II" OR "growth hormone deficiency, isolated, type II") OR (MESH:"Isolated Growth Hormone Deficiency, Type II") OR ("GH1 syndrome" OR "GH1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Isolated Growth Hormone Deficiency, Type II

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

"Isolated growth hormone deficiency type II" OR "Congenital IGHD type II" OR "Congenital isolated GH deficiency type II" OR "Congenital isolated growth hormone deficiency type II" OR "growth hormone deficiency, isolated, type II" OR "Isolated Growth Hormone Deficiency, Type II"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh; 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 2026-07-27T10:19:51.892Z