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ORPHA:94089

Pseudohypoparathyroidism type 1B

high confidenceDisorder

Publications

234

74.7th percentile

Trials

0

Interventional, condition-specific

Researchers

1,057

Distinct authors in sample

Gene link

GNAS, GNAS-AS1, STX16

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.

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 (1)

pseudohypoparathyroidism Ib

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — GNAS, GNAS-AS1, STX16

  2. LiteraturePresent

    234 matched papers (158 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 8 for broader category pseudohypoparathyroidism

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, GNAS-AS1, STX16).

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?

234

234 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=5449) is 41.

234 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).

158 in the last 10 years · high confidence · 74.7th percentile (publications denominator)

Phrase hits: 234 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,057

Distinct author names in 200 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
    Jüppner H24 papers · 2026

    Endocrine Unit and Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.

    Papers in Europe PMC
  2. 02
    Kagami M14 papers · 2026

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

    Papers in Europe PMC
  3. 03
    Fukami M12 papers · 2026

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

    Papers in Europe PMC
  4. 04
    Reyes M12 papers · 2025

    Endocrine Unit and Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, United States.

    Papers in Europe PMC
  5. 05
    Bastepe M10 papers · 2025

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

    Papers in Europe PMC
  6. 06
    Ogata T9 papers · 2025

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

    Papers in Europe PMC
  7. 07
    Levine MA8 papers · 2024

    Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia (CHOP), Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  8. 08
    Linglart A8 papers · 2025

    INSERM U986, Hôpital Bicêtre, Le Kremlin Bicêtre 94276, France; Service d'Endocrinologie Pédiatrique, Hôpital Bicêtre-AP-HP, Le Kremlin Bicêtre 94276, France; Centre de Référence des Maladies Rares du Métabolisme Phospho-Calcique Hôpital Bicêtre, Le Kremlin Bicêtre 94276, France.

    Papers in Europe PMC
  9. 09
    Iwasaki Y7 papers · 2026

    Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

    Papers in Europe PMC
  10. 10
    Nakamura A7 papers · 2025

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 8 trials are registered for pseudohypoparathyroidism, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th 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.

8 interventional trials matched pseudohypoparathyroidism, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: pseudohypoparathyroidism

8

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

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

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 2026-07-26

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 1B" OR "pseudohypoparathyroidism Ib"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: [OBSOLETE] Pseudohypoparathyroidism Type 1B

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

"Pseudohypoparathyroidism type 1B" OR "pseudohypoparathyroidism Ib" OR "[OBSOLETE] Pseudohypoparathyroidism Type 1B" OR "GNAS" OR "GNAS-AS1" OR "STX16"

Recall-expansion terms: GNAS, GNAS-AS1, STX16

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"pseudohypoparathyroidism"

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion

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 2026-07-27T04:38:28.068Z