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ORPHA:93299

Achondrogenesis type 1A

high confidenceSubtype of disorder

Also known as: Achondrogenesis, Houston-Harris type

Publications

547

79.8th percentile

Trials

0

Interventional, condition-specific

Researchers

281

Distinct authors in sample

Gene link

TRIP11

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, lethal type of achondrogenesis characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.

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)

achondrogenesis, Houston-Harris type

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 matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — TRIP11

  2. LiteraturePresent

    547 matched papers (366 in last 10 years) Source

  3. Phenotype characterisedPresent

    68 HPO annotations (e.g. Micrognathia; Anteverted nares; Short neck) Source

  4. Animal modelPresent

    3 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (TRIP11).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

68

Associated phenotypes · MONDO:0008701

  • Micrognathia
  • Anteverted nares
  • Short neck
  • Thickened nuchal skin fold
  • Narrow chest

Showing 5 of 68 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

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?

547

547 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=3967) is 59.

547 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).

366 in the last 10 years · high confidence · 79.8th percentile (publications denominator)

Phrase hits: 54 · MeSH hits: 2

Open Europe PMC search

Who's working on it?

281

Distinct author names in 54 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
    Lowe M7 papers · 2025

    School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PT, UK philip.woodman@manchester.ac.uk martin.lowe@manchester.ac.uk.

    Papers in Europe PMC
  2. 02
    Superti-Furga A5 papers · 2021

    Division of Genetic Medicine, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

    Papers in Europe PMC
  3. 03
    Warman ML4 papers · 2018

    Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, The Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts, USA.

    Papers in Europe PMC
  4. 04
    Cormier-Daire V3 papers · 2014

    Département de Génétique, Unité INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker Enfants Malades, Paris, France.

    Papers in Europe PMC
  5. 05
    Krakow D3 papers · 2015

    International Skeletal Dysplasia Registry, University of California Los Angeles, Los Angeles, California.

    Papers in Europe PMC
  6. 06
    Nishimura G3 papers · 2019

    Department of Radiology and Medical Imaging, Tokyo Metropolitan Kiyose Children's Hospital, Kiyose, Japan.

    Papers in Europe PMC
  7. 07
    Bitar-Alatorre WE2 papers · 2019

    Traumatología y Ortopedia, Hospital Ángeles del Carmen, México.

    Papers in Europe PMC
  8. 08
    Cavalcanti DP2 papers · 2020

    Skeletal Dysplasia Group, Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, Brazil.

    Papers in Europe PMC
  9. 09
    Cervantes-Aragón I2 papers · 2019

    Instituto de Genética Humana Dr. Enrique Corona Rivera, Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la Salud, Benemérita Universidad de Guadalajara, México.

    Papers in Europe PMC
  10. 10
    Cohn DH2 papers · 2015

    Department of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, California.

    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).

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.

high 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.

Broader category achondrogenesis also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: achondrogenesis

0

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

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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 Achondrogenesis 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.

("Achondrogenesis type 1A" OR "Achondrogenesis, Houston-Harris type") OR (MESH:"Achondrogenesis type 1A") OR ("TRIP11" OR "TRIP11 syndrome" OR "TRIP11-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Achondrogenesis type 1A

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

"Achondrogenesis type 1A" OR "Achondrogenesis, Houston-Harris type"

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

Parent-category trials query:

"achondrogenesis"

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

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 2026-07-27T04:13:14.380Z