ORPHA:99844
Leukocyte adhesion deficiency type III
Also known as: LAD-1 variant · LAD-III · Leukocyte adhesion deficiency-1 variant
Publications
1,216
Trials
0
Interventional, condition-specific
Researchers
1,126
Distinct authors in sample
Gene link
FERMT3
Definitive
Readiness
5/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013016
- MeSH:C567555
- OMIM:612840
- UMLS:C2748536
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.”
5/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — FERMT3
- LiteraturePresent
1,216 matched papers (836 in last 10 years) Source
- Phenotype characterisedPresent
17 HPO annotations (e.g. Abnormal bleeding; Hepatomegaly; Recurrent skin infections) Source
- Animal modelPresent
2 genotype models (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
17
Associated phenotypes · MONDO:0013016
- Abnormal bleeding
- Hepatomegaly
- Recurrent skin infections
- Subcutaneous nodule
- Anemia
Showing 5 of 17 — open Monarch for the full list.
Animal models (Monarch / Alliance)
2
Model associations linked to this Mondo ID
- Fermt3tm1Ref/Fermt3tm1Ref [background:] involves: 129S1/Sv * 129X1/SvJ·MGI:3795785·Mus musculus
- Rasgrp2tm1Amg/Rasgrp2tm1Amg [background:] Not Specified·MGI:3055194·Mus musculus
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?
1,216
1,216 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.
1,216 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).
836 in the last 10 years · low confidence
Phrase hits: 375 · MeSH hits: 3
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.
- 01Kuijpers TW14 papers · 2023
Department of Blood Cell Research, Sanquin Research, and Landsteiner Laboratory, Amsterdam, The Netherlands.
Papers in Europe PMC - 02Ma 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 - 03Moser M10 papers · 2025
Department of Molecular Medicine, Max Planck Institute of Biochemistry, Am Klopferspitz 18, 82152 Martinsried, Germany.
Papers in Europe PMC - 04Xu 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 - 05Fagerholm 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 - 06Plow EF7 papers · 2025
Department of Cardiovascular and Metabolic Sciences, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA.
Papers in Europe PMC - 07Alessi 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 - 08Fässler R6 papers · 2020
Department of Molecular Medicine, Max Planck Institute of Biochemistry, 82152 Martinsried, Germany.
Papers in Europe PMC - 09Schulze H6 papers · 2024
Institute of Experimental Biomedicine, University Hospital Würzburg, Würzburg, Germany.
Papers in Europe PMC - 10van 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 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.
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
- NCT05754450·RECRUITING·An Extension Study Assessing the Safety and Efficacy of AVTX-803 in Subjects With Leukocyte Adhesion Deficiency Type II
Conditions: Leukocyte Adhesion Deficiency·Matched via name phrase
- NCT05462587·RECRUITING·A Study to Evaluate Efficacy and Safety of AVTX-803 in Patients With Leukocyte Adhesion Deficiency Type II
Conditions: Leukocyte Adhesion Deficiency·Matched via name phrase
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 Leukocyte adhesion deficiency type III — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26Likely 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") OR (MESH:"Leukocyte Adhesion Deficiency, Type III") OR ("FERMT3" OR "FERMT3 syndrome" OR "FERMT3-related")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"
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; 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
- Publication count (1216) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T06:22:37.684Z