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ORPHA:750

Pseudoachondroplasia

medium confidenceDisorder

Also known as: Pseudoachondroplastic dysplasia · Pseudoachondroplastic spondyloepiphyseal dysplasia

Publications

329,610

99.8th percentile

Trials

1

Interventional, condition-specific

Researchers

1,127

Distinct authors in sample

Gene link

COMP

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

pseudoachondroplasia · pseudoachondroplastic dysplasia · spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC

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 — COMP

  2. LiteraturePresent

    329,610 matched papers (137,618 in last 10 years) Source

  3. Phenotype characterisedPresent

    88 HPO annotations (e.g. Waddling gait; Delayed epiphyseal ossification; Arthralgia) Source

  4. Animal modelPresent

    4 genotype models (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

    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 (COMP).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

88

Associated phenotypes · MONDO:0008322

  • Waddling gait
  • Delayed epiphyseal ossification
  • Arthralgia
  • Metaphyseal widening
  • Short phalanx of finger

Showing 5 of 88 — 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

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?

329,610

329,610 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.

329,610 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).

137,618 in the last 10 years · medium confidence · 99.8th percentile (publications denominator)

Phrase hits: 905 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,127

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
    Hecht JT12 papers · 2025

    Department of Pediatrics, McGovern Medical School The University of Texas Health Science Center at Houston (UTHealth) Houston TX USA.

    Papers in Europe PMC
  2. 02
    Posey KL11 papers · 2025

    Department of Pediatrics, McGovern Medical School The University of Texas Health Science Center at Houston (UTHealth) Houston TX USA.

    Papers in Europe PMC
  3. 03
    Li Y10 papers · 2026

    Department of Pharmacology, Basic Medical School of Wuhan University, No.185 Donghu Road, Wuhan, Hubei Province, 430071, China.

    Papers in Europe PMC
  4. 04
    Wang H8 papers · 2026

    Department of Pharmacology, Basic Medical School of Wuhan University, No.185 Donghu Road, Wuhan, Hubei Province, 430071, China; Hubei Provincial Key Laboratory of Developmentally Originated Disease, No.185 Donghu Road, Wuhan, Hubei Province, 430071, China. Electronic address: wanghui19@whu.edu.cn.

    Papers in Europe PMC
  5. 05
    Hossain MG7 papers · 2024

    Department of Pediatrics, McGovern Medical School The University of Texas Health Science Center at Houston (UTHealth) Houston TX USA.

    Papers in Europe PMC
  6. 06
    Veerisetty AC7 papers · 2024

    Department of Pediatrics, McGovern Medical School The University of Texas Health Science Center at Houston (UTHealth) Houston TX USA.

    Papers in Europe PMC
  7. 07
    Chiu F6 papers · 2024

    Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston (UTHealth), Houston, TX 77030, USA.

    Papers in Europe PMC
  8. 08
    Briggs MD5 papers · 2025

    Biosciences Institute, Faculty of Medical Sciences, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

    Papers in Europe PMC
  9. 09
    Li J5 papers · 2025

    Hubei Provincial Key Laboratory of Developmentally Originated Disease, Wuhan 430071, China.

    Papers in Europe PMC
  10. 10
    Zhang J5 papers · 2026

    Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No. 1 Shuaifuyuan, Beijing, 100730, 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).

medium 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.

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 2026-07-29

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 Pseudoachondroplasia — 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.

("Pseudoachondroplasia" OR "Pseudoachondroplastic dysplasia" OR "Pseudoachondroplastic spondyloepiphyseal dysplasia" OR "spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC") OR ("COMP" OR "COMP syndrome" OR "COMP-related")

Run this search on Europe PMC

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

"Pseudoachondroplasia" OR "Pseudoachondroplastic dysplasia" OR "Pseudoachondroplastic spondyloepiphyseal dysplasia" OR "spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC"

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

Query health: ok — strategies attempted: phrase; with hits: phrase

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 2026-07-26T15:12:04.233Z