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ORPHA:79443

Pseudohypoparathyroidism type 1A

low confidenceDisorder

Also known as: AHO-PHP syndrome Ia · Albright hereditary osteodystrophy-PHP syndrome Ia

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

Publications

13,002

Trials

6

Interventional, condition-specific

Researchers

1,011

Distinct authors in sample

Gene link

GNAS

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright osteodystrophy (AHO).

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 (4)

Albright hereditary osteodystrophy · Albright hereditary osteodystrophy with multiple hormone resistance · PHP1A · Pseudohypoparathyroidism Ia

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 — GNAS

  2. LiteraturePresent

    13,002 matched papers (8,990 in last 10 years) Source

  3. Phenotype characterisedPresent

    98 HPO annotations (e.g. Low urinary cyclic AMP response to PTH administration; Delayed eruption of teeth; Brachydactyly) Source

  4. Animal modelPresent

    4 genotype models (Danio rerio, 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

    6 matched on ClinicalTrials.gov (2 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 (GNAS).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

98

Associated phenotypes · MONDO:0007078

  • Low urinary cyclic AMP response to PTH administration
  • Delayed eruption of teeth
  • Brachydactyly
  • Short stature
  • Thickened calvaria

Showing 5 of 98 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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

2

Drugs / clinical candidates · MONDO_0007078

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

13,002

13,002 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.

13,002 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).

8,990 in the last 10 years · low confidence

Phrase hits: 2,359 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,011

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
    Linglart A8 papers · 2026

    Department of Endocrinology and Diabetology for Children and Department of Adolescent Medicine, AP-HP, Bicêtre Paris-Saclay University Hospital, 94270 Le Kremlin-Bicêtre, France.

    Papers in Europe PMC
  2. 02
    Li M7 papers · 2026

    Department of Endocrinology, The First Affiliated Hospital of Dalian Medical University , ,

    Papers in Europe PMC
  3. 03
    Berkenou J6 papers · 2026

    Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, AP-HP, Filière OSCAR and Platform of expertise for rare diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, 94270 Le Kremlin-Bicêtre, France.

    Papers in Europe PMC
  4. 04
    Del Sindaco G6 papers · 2026

    Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

    Papers in Europe PMC
  5. 05
    Mantovani G6 papers · 2026

    Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

    Papers in Europe PMC
  6. 06
    Pagnano A6 papers · 2026

    Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

    Papers in Europe PMC
  7. 07
    Rothenbuhler A6 papers · 2026

    Department of Endocrinology and Diabetology for Children and Department of Adolescent Medicine, AP-HP, Bicêtre Paris-Saclay University Hospital, 94270 Le Kremlin-Bicêtre, France.

    Papers in Europe PMC
  8. 08
    Chen X4 papers · 2026

    Department of Endocrinology, Laboratory of Endocrinology and Metabolism, West China Hospital, Sichuan University, Chengdu, 610041, China. onlycx@163.com.

    Papers in Europe PMC
  9. 09
    Jüppner H4 papers · 2025

    Department of Medicine, Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, United States.

    Papers in Europe PMC
  10. 10
    Kagami M4 papers · 2026

    Department of Molecular Endocrinology, National Center for Child Health and Development, Tokyo 157-8535, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; 2 currently recruiting in our sample. 2 trials are registered for pseudohypoparathyroidism, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 2026

6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).

low confidence · 90.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

6 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: pseudohypoparathyroidism

2

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

3 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.

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 Pseudohypoparathyroidism type 1A — 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.

("Pseudohypoparathyroidism type 1A" OR "AHO-PHP syndrome Ia" OR "Albright hereditary osteodystrophy-PHP syndrome Ia" OR "Albright hereditary osteodystrophy" OR "Albright hereditary osteodystrophy with multiple hormone resistance" OR "PHP1A" OR "Pseudohypoparathyroidism Ia") OR (MESH:"[OBSOLETE] Albright's hereditary osteodystrophy") OR ("GNAS" OR "GNAS syndrome" OR "GNAS-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: [OBSOLETE] Albright's hereditary osteodystrophy

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

"Pseudohypoparathyroidism type 1A" OR "AHO-PHP syndrome Ia" OR "Albright hereditary osteodystrophy-PHP syndrome Ia" OR "Albright hereditary osteodystrophy" OR "Albright hereditary osteodystrophy with multiple hormone resistance" OR "PHP1A" OR "Pseudohypoparathyroidism Ia" OR "[OBSOLETE] Albright's hereditary osteodystrophy"

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: 6 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"pseudohypoparathyroidism"

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
  • "Albright hereditary osteodystrophy" also appears on ORPHA:665
  • Publication count (13002) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T02:25:38.269Z