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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
leukocyte adhesion deficiency 3
Summary
- Synonym
-
- IADD
- LAD1 variant
- LAD1V
- LAD3
- integrin activation deficiency disease
- leukocyte adhesion deficiency 1 variant
- leukocyte adhesion deficiency type III
- Definition
- A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12.
- Super Class
- leukocyte adhesion deficiency
External Links
- Disease Ontology
- DOID:0110912
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P09622 | Dihydrolipoyl dehydrogenase, mitochondrial |
