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ORPHA:79445

Pseudopseudohypoparathyroidism

low confidenceDisorder

Also known as: AHO-PPHP syndrome · Albright hereditary osteodystrophy-PPHP syndrome

Publications

11,871

Trials

1

Interventional, condition-specific

Researchers

1,031

Distinct authors in sample

Gene link

GNAS

Strong

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP).

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous] · aho-PPHP syndrome · pseudopseudohypoparathyroidism

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — GNAS

  2. LiteraturePresent

    11,871 matched papers (8,474 in last 10 years) Source

  3. Phenotype characterisedPresent

    35 HPO annotations (e.g. Brachydactyly; Short neck; Intellectual disability) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationPartial

    1 FDA designation (none yet with FDA orphan-indication approval) — e.g. Teriparatide Source

  6. Interventional trialPresent

    1 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?

Yes — we know a specific gene responsible (GNAS).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

35

Associated phenotypes · MONDO:0012912

  • Brachydactyly
  • Short neck
  • Intellectual disability
  • Full cheeks
  • Depressed nasal bridge

Showing 5 of 35 — 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)

1

Designation · no FDA orphan-indication approval yet

  • FDA Teriparatide (Parathar)Hypocalcemia Hypoparathyroidism Pseudohypoparathyroidism · 1987-01-09

Sources: FDA OOPD · EMA orphan designations

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?

11,871

11,871 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.

11,871 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).

8,474 in the last 10 years · low confidence

Phrase hits: 678 · MeSH hits: 13

Open Europe PMC search

Who's working on it?

1,031

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
    Jüppner H13 papers · 2025

    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114.

    Papers in Europe PMC
  2. 02
    Mantovani G10 papers · 2025

    Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.

    Papers in Europe PMC
  3. 03
    Elli FM8 papers · 2021

    Department of Clinical Sciences and Community Health, University of Milan, Endocrinology and Diabetology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

    Papers in Europe PMC
  4. 04
    Levine MA7 papers · 2025

    Department of Pediatrics, Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia;, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania

    Papers in Europe PMC
  5. 05
    Germain-Lee EL6 papers · 2025

    Department of Pediatrics University of Connecticut School of Medicine Farmington CT USA.

    Papers in Europe PMC
  6. 06
    Pereda A6 papers · 2024

    Rare Diseases Research Group, Molecular (Epi)Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Araba, Spain.

    Papers in Europe PMC
  7. 07
    Kottler ML5 papers · 2020

    Department of Genetics, Reference centre for rare disease of calcium and phosphorus metabolism, Caen University Hospital, 14033 Caen, France. Electronic address: Kottler-ml@chu-caen.fr.

    Papers in Europe PMC
  8. 08
    Reyes M5 papers · 2025

    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114.

    Papers in Europe PMC
  9. 09
    Shoemaker AH5 papers · 2025

    Department of Pediatrics, Division of Pediatric Endocrinology, Vanderbilt University Medical Center, Nashville, Tennessee.

    Papers in Europe PMC
  10. 10
    Li Y4 papers · 2024

    Basecare Medical Device Co., Ltd., Suzhou, China.

    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; none in our sample are currently recruiting.

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.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

1 observational study matches 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.

None of the matched observational studies is currently listed as 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 Pseudopseudohypoparathyroidism — 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.

("Pseudopseudohypoparathyroidism" OR "AHO-PPHP syndrome" OR "Albright hereditary osteodystrophy-PPHP syndrome" OR "Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]") OR (MESH:"Pseudopseudohypoparathyroidism") OR ("GNAS" OR "GNAS syndrome" OR "GNAS-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Pseudopseudohypoparathyroidism

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

"Pseudopseudohypoparathyroidism" OR "AHO-PPHP syndrome" OR "Albright hereditary osteodystrophy-PPHP syndrome" OR "Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]"

Interventional trials matched via: both (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 · 1 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (11871) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T02:25:56.807Z