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ORPHA:99844

Leukocyte adhesion deficiency type III

medium confidenceSubtype of disorder

Also known as: LAD-1 variant · LAD-III · Leukocyte adhesion deficiency-1 variant

Publications

375

78.6th percentile

Trials

0

Interventional, condition-specific

Researchers

1,126

Distinct authors in sample

Gene link

FERMT3

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of leukocyte adhesion deficiency (LAD) characterized by both severe bacterial infections and a severe bleeding disorder.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (13)

FERMT3 leukocyte adhesion deficiency · IADD · LAD1V · LAD3 · integrin activation deficiency disease · lad-1 variant · lad-III · leukocyte adhesion deficiency 1 variant · leukocyte adhesion deficiency 3 · leukocyte adhesion deficiency caused by mutation in FERMT3 · leukocyte adhesion deficiency type 3 · leukocyte adhesion deficiency type III · leukocyte adhesion deficiency-1 variant

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

    Definitive — FERMT3

  2. LiteraturePresent

    375 matched papers (199 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; 12 for broader category leukocyte adhesion deficiency

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 (FERMT3).

GenCC classification: Definitive.

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?

375

375 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.

375 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).

199 in the last 10 years · medium confidence · 78.6th percentile (publications denominator)

Phrase hits: 375 · MeSH hits: 3

Open Europe PMC search

Who's working on it?

1,126

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
    Kuijpers TW14 papers · 2023

    Department of Blood Cell Research, Sanquin Research, and Landsteiner Laboratory, Amsterdam, The Netherlands.

    Papers in Europe PMC
  2. 02
    Ma YQ10 papers · 2026

    Collaborative Research Program for Cell Adhesion Molecules, Shanghai University School of Life Sciences, Shanghai 200444, China yanqing.ma@bcw.edu zhen.xu@bcw.edu.

    Papers in Europe PMC
  3. 03
    Moser M10 papers · 2025

    Department of Molecular Medicine, Max Planck Institute of Biochemistry, Am Klopferspitz 18, 82152 Martinsried, Germany.

    Papers in Europe PMC
  4. 04
    Xu Z10 papers · 2026

    Collaborative Research Program for Cell Adhesion Molecules, Shanghai University School of Life Sciences, Shanghai 200444, China yanqing.ma@bcw.edu zhen.xu@bcw.edu.

    Papers in Europe PMC
  5. 05
    Fagerholm SC8 papers · 2021

    1] Medical Research Institute, Ninewells Hospital and Medical School, University of Dundee, Dundee DD1 9SY, UK [2] Institute of Biotechnology, University of Helsinki, Helsinki 00014, Finland.

    Papers in Europe PMC
  6. 06
    Plow EF7 papers · 2025

    Department of Cardiovascular and Metabolic Sciences, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA.

    Papers in Europe PMC
  7. 07
    Alessi MC6 papers · 2020

    Institut National de la Santé et de la Recherche Médicale (Inserm), UMR_S 1062, 13005 Marseille, France Inra, UMR_INRA 1260, 13005 Marseille, France Aix Marseille Université, 13005 Marseille, France marie-christine.alessi@univ-amu.fr.

    Papers in Europe PMC
  8. 08
    Fässler R6 papers · 2020

    Department of Molecular Medicine, Max Planck Institute of Biochemistry, 82152 Martinsried, Germany.

    Papers in Europe PMC
  9. 09
    Schulze H6 papers · 2024

    Institute of Experimental Biomedicine, University Hospital Würzburg, Würzburg, Germany.

    Papers in Europe PMC
  10. 10
    van den Berg TK6 papers · 2021

    Department of Blood Cell Research, Sanquin Research, and Landsteiner Laboratory, Amsterdam, The Netherlands.

    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). 12 trials are registered for leukocyte adhesion deficiency, 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.

medium 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.

12 interventional trials matched leukocyte adhesion deficiency, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: leukocyte adhesion deficiency

12

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

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

Likely covered — the policy lists Osteopetrosis as a category (Group 1), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

"Leukocyte adhesion deficiency type III" OR "LAD-1 variant" OR "LAD-III" OR "Leukocyte adhesion deficiency-1 variant" OR "FERMT3 leukocyte adhesion deficiency" OR "LAD1V" OR "integrin activation deficiency disease" OR "leukocyte adhesion deficiency 1 variant" OR "leukocyte adhesion deficiency 3" OR "leukocyte adhesion deficiency caused by mutation in FERMT3" OR "leukocyte adhesion deficiency type 3"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Leukocyte Adhesion Deficiency, Type III

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

"Leukocyte adhesion deficiency type III" OR "LAD-1 variant" OR "LAD-III" OR "Leukocyte adhesion deficiency-1 variant" OR "FERMT3 leukocyte adhesion deficiency" OR "LAD1V" OR "integrin activation deficiency disease" OR "leukocyte adhesion deficiency 1 variant" OR "leukocyte adhesion deficiency 3" OR "leukocyte adhesion deficiency caused by mutation in FERMT3" OR "leukocyte adhesion deficiency type 3" OR "Leukocyte Adhesion Deficiency, Type III" OR "FERMT3"

Recall-expansion terms: FERMT3

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

Parent-category trials query:

"leukocyte adhesion deficiency"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: IADD; LAD3

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T06:22:37.684Z