leukocyte adhesion deficiency 3
Findings
No curated finding names leukocyte adhesion deficiency 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder.
Definition from the Mondo Disease Ontology (MONDO:0013016), read 2026-09-29. CC BY 4.0.
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of thrombocytesHPOHP:0001872
- Frequent (30% to 79% of cases)
- HepatosplenomegalyHPOHP:0001433
- Frequent (30% to 79% of cases)
- Recurrent bacterial infectionsHPOHP:0002718
- Frequent (30% to 79% of cases) · Infantile onset
- SplenomegalyHPOHP:0001744
- Frequent (30% to 79% of cases)
- EpistaxisHPOHP:0000421
- Occasional (5% to 29% of cases)
- Extramedullary hematopoiesisHPOHP:0001978
- Very rare (1% to 4% of cases)
- Abnormal bleedingHPOHP:0001892
- Abnormal lymph node morphologyHPOHP:0002733
- Increased total leukocyte countHPOHP:0001974
- PainHPOHP:0012531
- Recurrent skin infectionsHPOHP:0001581
- SepsisHPOHP:0100806
Show the remaining 1
- Subcutaneous noduleHPOHP:0001482
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FERMT3HGNC:23151
- Definitive · ClinGen · Autosomal recessive · 2019
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
12 names
Resolves to: leukocyte adhesion deficiency 3
- Also called
- FERMT3 leukocyte adhesion deficiencyIADDintegrin activation deficiency diseaselad-1 variantLAD-IIILAD1VLAD3leukocyte adhesion deficiency 1 variantleukocyte adhesion deficiency caused by mutation in FERMT3leukocyte adhesion deficiency type 3leukocyte adhesion deficiency type IIIleukocyte adhesion deficiency-1 variant