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ORPHA:94089

Pseudohypoparathyroidism type 1B

low confidenceDisorder

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

Publications

12,278

Trials

0

Interventional, condition-specific

Researchers

1,057

Distinct authors in sample

Gene link

GNAS, GNAS-AS1, STX16

Strong

Readiness

4/6

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.”

4/6 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

    12,278 matched papers (8,911 in last 10 years) Source

  3. Phenotype characterisedPresent

    47 HPO annotations (e.g. Obesity; Brachydactyly; Short metacarpal) 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 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)

47

Associated phenotypes · MONDO:0011301

  • Obesity
  • Brachydactyly
  • Short metacarpal
  • Pseudohypoparathyroidism
  • Elevated circulating parathyroid hormone level

Showing 5 of 47 — 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?

12,278

12,278 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.

12,278 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).

8,911 in the last 10 years · low confidence

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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 8 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 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.

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

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 1B — 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 1B" OR "pseudohypoparathyroidism Ib") OR (MESH:"[OBSOLETE] Pseudohypoparathyroidism Type 1B") OR ("GNAS" OR "GNAS syndrome" OR "GNAS-related" OR "GNAS-AS1" OR "GNAS-AS1 syndrome" OR "GNAS-AS1-related" OR "STX16" OR "STX16 syndrome" OR "STX16-related")

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"

Study-type breakdown: 0 interventional · 0 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
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (12278) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T04:38:28.068Z