ORPHA:79445
Pseudopseudohypoparathyroidism
Also known as: AHO-PPHP syndrome · Albright hereditary osteodystrophy-PPHP syndrome
Publications
678
79.4th percentile
Trials
1
Interventional, condition-specific
Researchers
1,031
Distinct authors in sample
Gene link
GNAS
Strong
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012912
- MeSH:D011556
- OMIM:612463
- UMLS:C0033835
- NCIT:C129722
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — GNAS
- LiteraturePresent
678 matched papers (208 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
678
678 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.
678 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).
208 in the last 10 years · medium confidence · 79.4th percentile (publications denominator)
Phrase hits: 678 · MeSH hits: 13
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.
- 01Jüppner H13 papers · 2025
Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114.
Papers in Europe PMC - 02Mantovani 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 - 03Elli 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 - 04Levine 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 - 05Germain-Lee EL6 papers · 2025
Department of Pediatrics University of Connecticut School of Medicine Farmington CT USA.
Papers in Europe PMC - 06Pereda 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 - 07Kottler 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 - 08Reyes M5 papers · 2025
Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114.
Papers in Europe PMC - 09Shoemaker AH5 papers · 2025
Department of Pediatrics, Division of Pediatric Endocrinology, Vanderbilt University Medical Center, Nashville, Tennessee.
Papers in Europe PMC - 10
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 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).
medium 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.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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.
None of the matched observational studies is currently listed as recruiting.
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 2026-07-26This 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]"
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]" OR "GNAS"
Recall-expansion terms: GNAS
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 · 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, recall-expansion
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
Ingested 2026-07-27T02:25:56.807Z