Details of Disease | DrugMAP

General Information of Disease (ID: DISTEN13)

Disease Name	Leukocyte adhesion deficiency 3
Synonyms	integrin Activation deficiency disease; leukocyte adhesion deficiency, type III; leukocyte adhesion deficiency, type 3; leukocyte adhesion deficiency type 3; leukocyte adhesion deficiency caused by mutation in FERMT3; integrin activation deficiency disease; leukocyte adhesion deficiency 1 variant; LAD1 variant; leukocyte adhesion deficiency-1 variant; IADD; FERMT3 leukocyte adhesion deficiency; lad-1 variant; LAD3; lad-III; leukocyte adhesion deficiency 3; LAD1V; leukocyte adhesion deficiency type III
Definition	Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder.
Disease Hierarchy	DISEJ9VG: Leukocyte adhesion deficiency DIS8C3LZ: Infantile malignant osteopetrosis DISTEN13: Leukocyte adhesion deficiency 3
Disease Identifiers	MONDO ID MONDO_0013016 MESH ID C567555 UMLS CUI C2748536 OMIM ID 612840 MedGen ID 411605 Orphanet ID 99844 SNOMED CT ID 1269277004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RASGRP2	OTABVLVQ	Strong	Genetic Variation	[1]
FERMT3	OTFQOT3C	Definitive	Autosomal recessive	[2]
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References

1	Novel variants in FERMT3 and RASGRP2-Genetic linkage in Glanzmann-like bleeding disorders.Pediatr Blood Cancer. 2020 Feb;67(2):e28078. doi: 10.1002/pbc.28078. Epub 2019 Nov 14.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.