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ORPHA:314811

Short stature due to GHSR deficiency

low confidenceDisorder

Also known as: Ghrelin receptor deficiency · Short stature due to growth hormone secretagogue receptor deficiency

Publications

7,957

Trials

0

Interventional, condition-specific

Researchers

66

Distinct authors in sample

Gene link

GHSR

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

ghrelin receptor deficiency · short stature due to growth hormone secretagogue receptor 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.”

3/6 stages with a signal

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — GHSR

  2. LiteraturePresent

    7,957 matched papers (3,885 in last 10 years) Source

  3. Phenotype characterisedPresent

    16 HPO annotations (e.g. Short stature; Delayed skeletal maturation; Small pituitary gland) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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 (GHSR).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

16

Associated phenotypes · MONDO:0014403

  • Short stature
  • Delayed skeletal maturation
  • Small pituitary gland
  • Postnatal growth retardation
  • Delayed puberty

Showing 5 of 16 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

7,957

7,957 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

7,957 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).

3,885 in the last 10 years · low confidence

Phrase hits: 11 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

66

Distinct author names in 11 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
    Elmquist JK2 papers · 2012
    Papers in Europe PMC
  2. 02
    Zigman JM2 papers · 2012

    Department of Internal Medicine, Division of Endocrinology and Metabolism, Center for Hypothalamic Research, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, 75390-9077, USA.

    Papers in Europe PMC
  3. 03
    Andrews ZB1 paper · 2018

    Biomedicine Discovery Institute, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Australia.

    Papers in Europe PMC
  4. 04
    Babaei-Balderlou F1 paper · 2016

    - Department of Animal Sciences, Faculty of Biological Sciences, Shahid Beheshti University, Tehran, Iran.

    Papers in Europe PMC
  5. 05
    Bruemmer D1 paper · 2011
    Papers in Europe PMC
  6. 06
    Butte NF1 paper · 2012
    Papers in Europe PMC
  7. 07
    Chang J1 paper · 2006
    Papers in Europe PMC
  8. 08
    Christiansen SH1 paper · 2016

    Laboratory of Molecular Pharmacology, Department of Neuroscience and Pharmacology, University of Copenhagen, Copenhagen, Denmark, and The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark (Mr Jensen, Ms Ratner, Dr Rudenko, Ms Skov, Ms Hundahl, and Dr Holst); Laboratory of Neural Plasticity, Department of Neuroscience and Pharmacology, University of Copenhagen, Copenhagen, Denmark (Drs Christiansen and Woldbye).

    Papers in Europe PMC
  9. 09
    Chuang JC1 paper · 2012
    Papers in Europe PMC
  10. 10
    Dai J1 paper · 2015

    Department of Cardiology, Shanghai ChestHospital, Shanghai Jiaotong University, Shanghai,200030, China.

    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.

low 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 Short stature due to GHSR 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.

("Short stature due to GHSR deficiency" OR "Ghrelin receptor deficiency" OR "Short stature due to growth hormone secretagogue receptor deficiency") OR ("GHSR" OR "GHSR syndrome" OR "GHSR-related")

Run this search on Europe PMC

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

"Short stature due to GHSR deficiency" OR "Ghrelin receptor deficiency" OR "Short stature due to growth hormone secretagogue receptor deficiency"

Study-type breakdown: 0 interventional · 0 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
  • Publication count (7957) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T13:14:18.167Z