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LAD1
MCID: LKC009
MIFTS: 57

Leukocyte Adhesion Deficiency, Type I (LAD1)

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Leukocyte Adhesion Deficiency, Type I

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MalaCards integrated aliases for Leukocyte Adhesion Deficiency, Type I:

Name: Leukocyte Adhesion Deficiency, Type I 57 55
Leukocyte Adhesion Deficiency 57 12 59 37 13 6 15
Congenital Leukocyte Adherence Deficiency 12 73
Leukocyte Adhesion Deficiency Syndrome 76 55
Leukocyte-Adhesion Deficiency Syndrome 44 73
Lad1 57 75
Lad 57 59
Lymphocyte Function-Associated Antigen 1 Immunodeficiency 57
Leukocyte Adhesion Deficiency Type I 59
Leukocyte Adhesion Deficiency Type 1 73
Leukocyte Adhesion Deficiency 1 75
Lfa1 Immunodeficiency 57
Lad-I 59

Characteristics:

Orphanet epidemiological data:

59
leukocyte adhesion deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: early childhood;
leukocyte adhesion deficiency type i
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
corrected by bone marrow transplantation
delayed separation of umbilical cord


HPO:

32
leukocyte adhesion deficiency, type i:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 116920
Disease Ontology 12 DOID:6612
ICD10 33 D84.8
MeSH 44 D018370
NCIt 50 C27874
SNOMED-CT 68 77358003
MESH via Orphanet 45 D018370 C535887
ICD10 via Orphanet 34 D84.8
UMLS via Orphanet 74 C0242597 C0398738
KEGG 37 H00099
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Summaries for Leukocyte Adhesion Deficiency, Type I

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OMIM : 57 Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression. (116920)

MalaCards based summary : Leukocyte Adhesion Deficiency, Type I, also known as leukocyte adhesion deficiency, is related to leukocyte adhesion deficiency, type iii and mooren's ulcer. An important gene associated with Leukocyte Adhesion Deficiency, Type I is ITGB2 (Integrin Subunit Beta 2), and among its related pathways/superpathways are Leukocyte transendothelial migration and Ras signaling pathway. The drugs alemtuzumab and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, monocytes and bone, and related phenotypes are gingivitis and periodontitis

UniProtKB/Swiss-Prot : 75 Leukocyte adhesion deficiency 1: LAD1 patients have recurrent bacterial infections and their leukocytes are deficient in a wide range of adhesion-dependent functions.

Wikipedia : 76 Leukocyte adhesion deficiency (LAD), is a rare autosomal recessive disorder characterized by... more...

Sources

Related Diseases for Leukocyte Adhesion Deficiency, Type I

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Diseases related to Leukocyte Adhesion Deficiency, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 leukocyte adhesion deficiency, type iii 31.9 FERMT3 ITGB2 RASGRP2
2 mooren's ulcer 10.6 ITGB2 SELE
3 scleritis 10.6 ITGB2 SELE
4 plummer's disease 10.5 SELE SELL
5 boutonneuse fever 10.5 SELE SELL
6 retinitis pigmentosa 60 10.5 SELE SELL
7 lymphocytic vasculitis 10.4 ITGAM SELE
8 pustulosis palmaris et plantaris 10.4 ITGB2 SELE
9 leukostasis 10.4 SELE SELL
10 granulocytopenia 10.4 ITGAM SELL
11 type i 10.4
12 aspiration pneumonia 10.3 IL17A ITGAM
13 cohen syndrome 10.3 ITGAM SELL
14 periodontosis 10.3 ITGAM SELL
15 behcet syndrome 10.1 IL17A SELE SELL
16 chronic venous insufficiency 10.1 ITGAM SELL
17 wegener granulomatosis 10.1 ITGAM ITGB2 SELE
18 bronchopulmonary dysplasia 10.1 ITGAM SELL
19 neutrophil migration 10.1 ITGAM ITGB2
20 shwartzman phenomenon 10.0 ITGAM SELE SELL
21 periodontitis 10.0
22 psoriasis 9.8
23 kindler syndrome 9.7 FERMT1 FERMT3
24 pre-eclampsia 9.5 ITGAM SELE SELL
25 asthma 8.9 IL17A ITGAM SELE SELL

Graphical network of the top 20 diseases related to Leukocyte Adhesion Deficiency, Type I:



Diseases related to Leukocyte Adhesion Deficiency, Type I
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Symptoms & Phenotypes for Leukocyte Adhesion Deficiency, Type I

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
gingivitis

Hematology:
leukocytosis with predominant granulocytosis (20,000-100,000 /mm3) common

Laboratory Abnormalities:
low levels of cd11/cd18 (lfa-1 or leukocyte function antigen-1) glycoprotein

Head And Neck Teeth:
periodontitis

Immunology:
perirectal abscesses
recurrent staphylococcal and gram-negative infections
poor adhesion related functions, such as adhesion to endothelial cells, chemotaxis, and antibody-dependent cellular cytotoxicity


Clinical features from OMIM:

116920

Human phenotypes related to Leukocyte Adhesion Deficiency, Type I:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 gingivitis 32 HP:0000230
2 periodontitis 32 HP:0000704
3 leukocytosis 32 frequent (33%) HP:0001974
4 rectal abscess 32 HP:0005224
5 recurrent gram-negative bacterial infections 32 HP:0005420
6 recurrent staphylococcal infections 32 HP:0007499

MGI Mouse Phenotypes related to Leukocyte Adhesion Deficiency, Type I:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.91 FERMT3 IL17A ITGAM ITGB2 RASGRP2 SELE
2 cellular MP:0005384 9.87 FERMT1 ITGAM ITGB2 SELE SELL SLC35C1
3 homeostasis/metabolism MP:0005376 9.85 SELE SELL SLC35C1 TLN1 FERMT1 FERMT3
4 immune system MP:0005387 9.65 FERMT1 FERMT3 IL17A ITGAM ITGB2 RASGRP2
5 integument MP:0010771 9.1 FERMT1 FERMT3 ITGB2 SELE SELL SLC35C1
Sources

Drugs & Therapeutics for Leukocyte Adhesion Deficiency, Type I

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Drugs for Leukocyte Adhesion Deficiency, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 73)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2,Early Phase 1 216503-57-0
2
Fludarabine Approved Phase 2,Early Phase 1 21679-14-1, 75607-67-9 30751
3
Melphalan Approved Phase 2 148-82-3 4053 460612
4
Methylprednisolone Approved, Vet_approved Phase 2,Not Applicable 83-43-2 6741
5
Prednisolone Approved, Vet_approved Phase 2,Not Applicable 50-24-8 5755
6
Prednisone Approved, Vet_approved Phase 2,Not Applicable 53-03-2 5865
7
Ustekinumab Approved, Investigational Phase 2 815610-63-0
8
Hydroxyurea Approved Phase 2 127-07-1 3657
9
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
10 Anti-Infective Agents Phase 2,Early Phase 1,Not Applicable
11 Antiviral Agents Phase 2,Early Phase 1
12 Interferon-gamma Phase 2
13 interferons Phase 2
14 Cyclosporins Phase 2,Phase 1,Not Applicable
15 Methylprednisolone acetate Phase 2,Not Applicable
16 Methylprednisolone Hemisuccinate Phase 2,Not Applicable
17 Prednisolone acetate Phase 2,Not Applicable
18 Prednisolone hemisuccinate Phase 2,Not Applicable
19 Prednisolone phosphate Phase 2,Not Applicable
20 Antibodies Phase 2
21 Antibodies, Monoclonal Phase 2
22 Dermatologic Agents Phase 2,Not Applicable
23 Immunoglobulins Phase 2
24 Interleukin-12 Phase 2
25 Alkylating Agents Phase 2,Early Phase 1,Not Applicable
26 Antimetabolites Phase 2,Early Phase 1,Not Applicable
27 Antimetabolites, Antineoplastic Phase 2,Early Phase 1,Not Applicable
28 Antineoplastic Agents, Alkylating Phase 2,Early Phase 1,Not Applicable
29 Immunosuppressive Agents Phase 2,Phase 1,Early Phase 1,Not Applicable
30 Nucleic Acid Synthesis Inhibitors Phase 2,Not Applicable
31
Abatacept Approved Phase 1 332348-12-6 10237
32
Mycophenolate mofetil Approved, Investigational Phase 1 128794-94-5 5281078
33
Mycophenolic acid Approved Phase 1 24280-93-1 446541
34 Antirheumatic Agents Phase 1,Not Applicable
35
Busulfan Approved, Investigational Early Phase 1,Not Applicable 55-98-1 2478
36
Everolimus Approved Early Phase 1 159351-69-6 6442177
37
Lenograstim Approved, Investigational Early Phase 1 135968-09-1
38
Miconazole Approved, Investigational, Vet_approved Early Phase 1,Not Applicable 22916-47-8 4189
39
Sirolimus Approved, Investigational Early Phase 1 53123-88-9 5284616 6436030 46835353
40
Vidarabine Approved, Investigational Early Phase 1 24356-66-9 32326 21704
41
Cyclophosphamide Approved, Investigational Not Applicable 50-18-0, 6055-19-2 2907
42
Etoposide Approved Not Applicable 33419-42-0 36462
43
Methotrexate Approved Not Applicable 1959-05-2, 59-05-2 126941
44
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
45
leucovorin Approved, Nutraceutical Not Applicable 58-05-9 143 6006
46 Adjuvants, Immunologic Early Phase 1
47 Anti-Bacterial Agents Early Phase 1
48 Antibiotics, Antitubercular Early Phase 1
49 Antifungal Agents Early Phase 1,Not Applicable
50 Autoantibodies

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Study of ORL-1F in Patients With Leukocyte Adhesion Deficiency Type II Completed NCT03354533 Phase 1, Phase 2 ORL-1F
2 Stem Cell Transplantation to Treat Leukocyte Adhesion Deficiency Completed NCT00031005 Phase 2
3 Interferon Gamma to Treat Leukocyte Adhesion Deficiency Type I Completed NCT00001905 Phase 2 Interferon gamma
4 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Completed NCT01998633 Phase 2
5 Ustekinumab (Anti-IL-12/23p40 Monoclonal Antibody) in Patients With Leukocyte Adhesion Deficiency Type 1 (LAD1) Who Have Inflammatory Pathology Recruiting NCT03366142 Phase 2
6 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
7 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
8 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
9 Gene Therapy for Patients With Leukocyte Adherence Deficiency (Follow-Up of Phase 1 Trial) Completed NCT00023010
10 Apheresis of Patients With Immunodeficiency Recruiting NCT01212055
11 Evaluation of Patients With Immune Function Abnormalities Recruiting NCT00128973
12 Donor Stem Cell Transplantation for Congenital Immunodeficiencies Recruiting NCT00426517 Early Phase 1 Fludarabine;Total Body Irradiation, Busulfan, Campath-1H, or h-ATG, Fludarabine;Sirolimus or equivalent based on response;Granulocyte Colony Stimulating Factor (G-CSF)
13 Use of G-CSF to Obtain Blood Cell Precursors Recruiting NCT00001405
14 Detection and Characterization of Infections and Infection Susceptibility Recruiting NCT00404560
15 Natural History of Intestinal Inflammation in People With Primary Immune Dysregulations Recruiting NCT03278912
16 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone
17 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Not Applicable Alefacept

Search NIH Clinical Center for Leukocyte Adhesion Deficiency, Type I

Cochrane evidence based reviews: leukocyte-adhesion deficiency syndrome

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Genetic Tests for Leukocyte Adhesion Deficiency, Type I

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Anatomical Context for Leukocyte Adhesion Deficiency, Type I

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MalaCards organs/tissues related to Leukocyte Adhesion Deficiency, Type I:

41
Neutrophil, Monocytes, Bone, Bone Marrow, Endothelial, Testes, Whole Blood
Sources

Publications for Leukocyte Adhesion Deficiency, Type I

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Articles related to Leukocyte Adhesion Deficiency, Type I:

(show top 50) (show all 261)
# Title Authors Year
1
Hematopoietic stem cell transplantation for the treatment of leukocyte adhesion deficiency type III. ( 28827066 )
2017
2
Mutation characterization and heterodimer analysis of patients with leukocyte adhesion deficiency: Including one novel mutation. ( 28445705 )
2017
3
Interleukin-12 and Interleukin-23 Blockade in Leukocyte Adhesion Deficiency Type 1. ( 28328326 )
2017
4
Necrotizing Ulcer After BCG Vaccination in a Girl With Leukocyte-adhesion Deficiency Type 1. ( 28538512 )
2017
5
Leukocyte adhesion deficiency type I: A rare primary immunodeficiency disorder. ( 28107557 )
2017
6
Development of a fast and economical genotyping protocol for bovine leukocyte adhesion deficiency (BLAD) in cattle. ( 27652018 )
2016
7
Production and purification of high-titer foamy virus vector for the treatment of leukocyte adhesion deficiency. ( 27722179 )
2016
8
Mutation spectra of the ITGB2 gene in Iranian families with leukocyte adhesion deficiency type 1. ( 26639818 )
2016
9
Leukocyte Adhesion Deficiency Type 1 (LAD1) with Expressed but Nonfunctional CD11/CD18. ( 27492259 )
2016
10
Leukocyte Adhesion Deficiency IV. Monocyte Integrin Activation Deficiency in Cystic Fibrosis. ( 27174474 )
2016
11
Leukocyte Adhesion Deficiency-I: Clinical and Molecular Characterization in an Indian Population. ( 26924654 )
2016
12
Lentiviral Vector-Mediated Correction of a Mouse Model of Leukocyte Adhesion Deficiency Type I. ( 27056660 )
2016
13
Leukocyte Adhesion Deficiency III: Report of Two Siblings. ( 28043831 )
2016
14
Investigation of ITGB2 Gene in 12 New Cases of Leukocyte Adhesion Deficiency-Type I Revealed Four Novel Mutations from Iran. ( 26497373 )
2015
15
Role of bacteria in leukocyte adhesion deficiency-associated periodontitis. ( 26375893 )
2015
16
Budd-Chiari Syndrome in a Child With Leukocyte Adhesion Deficiency-A Rare Association. ( 26154877 )
2015
17
Molecular characterization of leukocyte adhesion deficiency-I in Indian patients: identification of 9 novel mutations. ( 25703682 )
2015
18
Subgingival microbial communities in Leukocyte Adhesion Deficiency and their relationship with local immunopathology. ( 25741691 )
2015
19
Successful adjunctive immunoglobulin treatment in patients affected by leukocyte adhesion deficiency type 1 (LAD-1). ( 25527966 )
2015
20
Highlighting the problematic reliance on CD18 for diagnosing leukocyte adhesion deficiency type 1. ( 26434744 )
2015
21
Loss of the Rap-1 effector RIAM results in leukocyte adhesion deficiency due to impaired I^2 integrin function in mice. ( 26337492 )
2015
22
A new mutation in the KINDLIN-3 gene ablates integrin-dependent leukocyte, platelet, and osteoclast function in a patient with leukocyte adhesion deficiency-III. ( 25854317 )
2015
23
Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3. ( 26359933 )
2015
24
Characterization of single amino acid substitutions in the I^2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1. ( 25514840 )
2015
25
Leukocyte Adhesion Deficiency-I with a Novel Intronic Mutation Presenting with Pyoderma Gangrenosum- Like Lesions. ( 25876705 )
2015
26
Correction: Subgingival Microbial Communities in Leukocyte Adhesion Deficiency and Their Relationship with Local Immunopathology. ( 25901574 )
2015
27
Defective neutrophil recruitment in leukocyte adhesion deficiency type I disease causes local IL-17-driven inflammatory bone loss. ( 24670684 )
2014
28
A Novel Mutation in Leukocyte Adhesion Deficiency Type II/CDGIIc. ( 25239688 )
2014
29
Bone loss in leukocyte adhesion deficiency reversed. ( 25080758 )
2014
30
Unusual neonatal presentation of type I leukocyte adhesion deficiency. ( 25024979 )
2014
31
Etiology of leukocyte adhesion deficiency-associated periodontitis revisited: not a raging infection but a raging inflammatory response. ( 24931458 )
2014
32
Prenatal diagnosis of leukocyte adhesion deficiency type-1 (five cases from iran with two new mutations). ( 24338230 )
2014
33
Leukocyte Adhesion Deficiency III - When Integrins Activation Fails. ( 25239689 )
2014
34
Leukocyte Adhesion Deficiency Type III: Clinical Features and Treatment With Stem Cell Transplantation. ( 25072369 )
2014
35
Type 1 leukocyte adhesion deficiency complicated by the presence of idiopathic liver cirrhosis. ( 25443357 )
2014
36
Long-term follow-up of foamy viral vector-mediated gene therapy for canine leukocyte adhesion deficiency. ( 23531552 )
2013
37
Incidence of bovine leukocyte adhesion deficiency, complex vertebral malformation, and deficiency of uridine-5-monophosphate synthase carriers in Brazilian Girolando cattle. ( 24065661 )
2013
38
Remission of Crohn's disease after cord blood transplantation for leukocyte adhesion deficiency type 1. ( 23334270 )
2013
39
Kindlin-3-independent adhesion of neutrophils from patients with leukocyte adhesion deficiency type III. ( 24342549 )
2013
40
Leukocyte adhesion deficiency type I in a mixed-breed dog. ( 23417082 )
2013
41
Lessons from rare maladies: leukocyte adhesion deficiency syndromes. ( 23207660 )
2013
42
Leukocyte adhesion deficiency syndrome: report on the first case in Chile and South America. ( 22965369 )
2012
43
Loss of kindlin-3 alters the threshold for NK cell activation in human leukocyte adhesion deficiency-III. ( 22983444 )
2012
44
A novel method for rapid and reliable detection of complex vertebral malformation and bovine leukocyte adhesion deficiency in Holstein cattle. ( 22958243 )
2012
45
Novel aspects of Kindlin-3 function in humans based on a new case of leukocyte adhesion deficiency III. ( 22564402 )
2012
46
Leukocyte adhesion deficiency-I variant syndrome (LAD-Iv, LAD-III): molecular characterization of the defect in an index family. ( 22139635 )
2012
47
Clinical profile of leukocyte adhesion deficiency type I. ( 21719937 )
2012
48
Hematologically important mutations: leukocyte adhesion deficiency (first update). ( 22134107 )
2012
49
Identification of a null allele in genetic tests for bovine leukocyte adhesion deficiency in Pakistani Bos indicus A9 Bos taurus cattle. ( 22374219 )
2012
50
Leukocyte adhesion deficiency: a case report and review. ( 22828768 )
2012
Sources

Variations for Leukocyte Adhesion Deficiency, Type I

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UniProtKB/Swiss-Prot genetic disease variations for Leukocyte Adhesion Deficiency, Type I:

75 (show all 15)
# Symbol AA change Variation ID SNP ID
1 ITGB2 p.Asp128Asn VAR_003984 rs137852615
2 ITGB2 p.Leu149Pro VAR_003985 rs137852611
3 ITGB2 p.Gly169Arg VAR_003986 rs137852612
4 ITGB2 p.Pro178Leu VAR_003987 rs137852614
5 ITGB2 p.Lys196Thr VAR_003988 rs137852610
6 ITGB2 p.Gly284Ser VAR_003989 rs137852616
7 ITGB2 p.Asn351Ser VAR_003990 rs137852613
8 ITGB2 p.Arg586Trp VAR_003991 rs5030672
9 ITGB2 p.Arg593Cys VAR_003992 rs137852609
10 ITGB2 p.Ser138Pro VAR_013402 rs137852617
11 ITGB2 p.Gly273Arg VAR_013403 rs137852618
12 ITGB2 p.Asp128Tyr VAR_065661 rs137852615
13 ITGB2 p.Ala239Thr VAR_065662 rs179363873
14 ITGB2 p.Asp300Val VAR_065663 rs179363874
15 ITGB2 p.Gly716Ala VAR_065664 rs179363872

ClinVar genetic disease variations for Leukocyte Adhesion Deficiency, Type I:

6
(show top 50) (show all 231)
# Gene Variation Type Significance SNP ID Assembly Location
1 ITGB2 NM_000211.4(ITGB2): c.446T> C (p.Leu149Pro) single nucleotide variant Pathogenic rs137852611 GRCh37 Chromosome 21, 46323333: 46323333
2 ITGB2 NM_000211.4(ITGB2): c.505G> A (p.Gly169Arg) single nucleotide variant Pathogenic rs137852612 GRCh38 Chromosome 21, 44901728: 44901728
3 ITGB2 NM_000211.4(ITGB2): c.446T> C (p.Leu149Pro) single nucleotide variant Pathogenic rs137852611 GRCh38 Chromosome 21, 44903418: 44903418
4 ITGB2 NM_000211.4(ITGB2): c.505G> A (p.Gly169Arg) single nucleotide variant Pathogenic rs137852612 GRCh37 Chromosome 21, 46321643: 46321643
5 ITGB2 NM_000211.4(ITGB2): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs387906411 GRCh37 Chromosome 21, 46330696: 46330696
6 ITGB2 NM_000211.4(ITGB2): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs387906411 GRCh38 Chromosome 21, 44910781: 44910781
7 ITGB2 NM_000211.4(ITGB2): c.587A> C (p.Lys196Thr) single nucleotide variant Pathogenic rs137852610 GRCh37 Chromosome 21, 46321561: 46321561
8 ITGB2 NM_000211.4(ITGB2): c.587A> C (p.Lys196Thr) single nucleotide variant Pathogenic rs137852610 GRCh38 Chromosome 21, 44901646: 44901646
9 ITGB2 NM_000211.4(ITGB2): c.1777C> T (p.Arg593Cys) single nucleotide variant Pathogenic rs137852609 GRCh37 Chromosome 21, 46309291: 46309291
10 ITGB2 NM_000211.4(ITGB2): c.1777C> T (p.Arg593Cys) single nucleotide variant Pathogenic rs137852609 GRCh38 Chromosome 21, 44889376: 44889376
11 ITGB2 ITGB2, IVS?AS, -12, 12-BP INS insertion Pathogenic
12 ITGB2 NM_000211.4(ITGB2): c.1052A> G (p.Asn351Ser) single nucleotide variant Pathogenic rs137852613 GRCh37 Chromosome 21, 46314917: 46314917
13 ITGB2 NM_000211.4(ITGB2): c.1052A> G (p.Asn351Ser) single nucleotide variant Pathogenic rs137852613 GRCh38 Chromosome 21, 44895002: 44895002
14 ITGB2 NM_000211.4(ITGB2): c.533C> T (p.Pro178Leu) single nucleotide variant Pathogenic rs137852614 GRCh37 Chromosome 21, 46321615: 46321615
15 ITGB2 NM_000211.4(ITGB2): c.533C> T (p.Pro178Leu) single nucleotide variant Pathogenic rs137852614 GRCh38 Chromosome 21, 44901700: 44901700
16 ITGB2 NM_000211.4(ITGB2): c.382G> A (p.Asp128Asn) single nucleotide variant Pathogenic rs137852615 GRCh37 Chromosome 21, 46323397: 46323397
17 ITGB2 NM_000211.4(ITGB2): c.382G> A (p.Asp128Asn) single nucleotide variant Pathogenic rs137852615 GRCh38 Chromosome 21, 44903482: 44903482
18 ITGB2 ITGB2, IVSDS, G-A, +1 single nucleotide variant Pathogenic
19 ITGB2 NM_000211.4(ITGB2): c.850G> A (p.Gly284Ser) single nucleotide variant Likely pathogenic rs137852616 GRCh37 Chromosome 21, 46320282: 46320282
20 ITGB2 NM_000211.4(ITGB2): c.850G> A (p.Gly284Ser) single nucleotide variant Likely pathogenic rs137852616 GRCh38 Chromosome 21, 44900367: 44900367
21 ITGB2 NM_000211.4(ITGB2): c.412T> C (p.Ser138Pro) single nucleotide variant Pathogenic rs137852617 GRCh37 Chromosome 21, 46323367: 46323367
22 ITGB2 NM_000211.4(ITGB2): c.412T> C (p.Ser138Pro) single nucleotide variant Pathogenic rs137852617 GRCh38 Chromosome 21, 44903452: 44903452
23 ITGB2 NM_000211.4(ITGB2): c.817G> A (p.Gly273Arg) single nucleotide variant Pathogenic rs137852618 GRCh37 Chromosome 21, 46320315: 46320315
24 ITGB2 NM_000211.4(ITGB2): c.817G> A (p.Gly273Arg) single nucleotide variant Pathogenic rs137852618 GRCh38 Chromosome 21, 44900400: 44900400
25 ITGB2 ITGB2, IVS4AS, 169-BP DEL, -37 deletion Pathogenic
26 ITGB2 NM_000211.4(ITGB2): c.382G> T (p.Asp128Tyr) single nucleotide variant Pathogenic rs137852615 GRCh37 Chromosome 21, 46323397: 46323397
27 ITGB2 NM_000211.4(ITGB2): c.382G> T (p.Asp128Tyr) single nucleotide variant Pathogenic rs137852615 GRCh38 Chromosome 21, 44903482: 44903482
28 ITGB2 NM_000211.4(ITGB2): c.715G> A (p.Ala239Thr) single nucleotide variant Pathogenic rs179363873 GRCh37 Chromosome 21, 46321433: 46321433
29 ITGB2 NM_000211.4(ITGB2): c.715G> A (p.Ala239Thr) single nucleotide variant Pathogenic rs179363873 GRCh38 Chromosome 21, 44901518: 44901518
30 ITGB2 NM_000211.4(ITGB2): c.1030G> T (p.Glu344Ter) single nucleotide variant Pathogenic rs483352816 GRCh37 Chromosome 21, 46314939: 46314939
31 ITGB2 NM_000211.4(ITGB2): c.1030G> T (p.Glu344Ter) single nucleotide variant Pathogenic rs483352816 GRCh38 Chromosome 21, 44895024: 44895024
32 ITGB2 NM_000211.4(ITGB2): c.1143delC (p.Tyr382Thrfs) deletion Pathogenic rs483352817 GRCh37 Chromosome 21, 46313400: 46313400
33 ITGB2 NM_000211.4(ITGB2): c.1143delC (p.Tyr382Thrfs) deletion Pathogenic rs483352817 GRCh38 Chromosome 21, 44893485: 44893485
34 ITGB2 NM_000211.4(ITGB2): c.1877+2T> C single nucleotide variant Pathogenic rs483352818 GRCh37 Chromosome 21, 46309189: 46309189
35 ITGB2 NM_000211.4(ITGB2): c.1877+2T> C single nucleotide variant Pathogenic rs483352818 GRCh38 Chromosome 21, 44889274: 44889274
36 ITGB2 NM_000211.4(ITGB2): c.1907delA (p.Lys636Argfs) deletion Pathogenic rs483352819 GRCh37 Chromosome 21, 46308781: 46308781
37 ITGB2 NM_000211.4(ITGB2): c.1907delA (p.Lys636Argfs) deletion Pathogenic rs483352819 GRCh38 Chromosome 21, 44888866: 44888866
38 ITGB2 NM_000211.4(ITGB2): c.576dupC (p.Asn193Glnfs) duplication Pathogenic rs483352813 GRCh37 Chromosome 21, 46321572: 46321572
39 ITGB2 NM_000211.4(ITGB2): c.576dupC (p.Asn193Glnfs) duplication Pathogenic rs483352813 GRCh38 Chromosome 21, 44901657: 44901657
40 ITGB2 NM_000211.4(ITGB2): c.706G> A (p.Gly236Arg) single nucleotide variant Likely pathogenic rs483352814 GRCh37 Chromosome 21, 46321442: 46321442
41 ITGB2 NM_000211.4(ITGB2): c.706G> A (p.Gly236Arg) single nucleotide variant Likely pathogenic rs483352814 GRCh38 Chromosome 21, 44901527: 44901527
42 ITGB2 NM_000211.4(ITGB2): c.843delC (p.Asn282Thrfs) deletion Pathogenic rs483352815 GRCh37 Chromosome 21, 46320289: 46320289
43 ITGB2 NM_000211.4(ITGB2): c.843delC (p.Asn282Thrfs) deletion Pathogenic rs483352815 GRCh38 Chromosome 21, 44900374: 44900374
44 ITGB2 NM_000211.4(ITGB2): c.897+1G> A single nucleotide variant Pathogenic rs201752283 GRCh37 Chromosome 21, 46320234: 46320234
45 ITGB2 NM_000211.4(ITGB2): c.897+1G> A single nucleotide variant Pathogenic rs201752283 GRCh38 Chromosome 21, 44900319: 44900319
46 ITGB2 NM_000211.4(ITGB2): c.897+1G> T single nucleotide variant Pathogenic rs201752283 GRCh37 Chromosome 21, 46320234: 46320234
47 ITGB2 NM_000211.4(ITGB2): c.897+1G> T single nucleotide variant Pathogenic rs201752283 GRCh38 Chromosome 21, 44900319: 44900319
48 ITGB2 NM_000211.4(ITGB2): c.*349delA deletion Likely benign rs145404701 GRCh38 Chromosome 21, 44886019: 44886019
49 ITGB2 NM_000211.4(ITGB2): c.*349delA deletion Likely benign rs145404701 GRCh37 Chromosome 21, 46305934: 46305934
50 ITGB2 NM_000211.4(ITGB2): c.2210G> A (p.Arg737His) single nucleotide variant Uncertain significance rs138714119 GRCh38 Chromosome 21, 44886773: 44886773
Sources

Expression for Leukocyte Adhesion Deficiency, Type I

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Search GEO for disease gene expression data for Leukocyte Adhesion Deficiency, Type I.
Sources

Pathways for Leukocyte Adhesion Deficiency, Type I

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Pathways related to Leukocyte Adhesion Deficiency, Type I according to KEGG:

37
# Name Kegg Source Accession
1 Leukocyte transendothelial migration hsa04670

Pathways related to Leukocyte Adhesion Deficiency, Type I according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Ras signaling pathway 37
Show member pathways
 12.38 ITGAM ITGB2 RASGRP2 TLN1
2
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 12.25 FERMT3 ITGAM ITGB2 RASGRP2 SELE SELL
3
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 37
Show member pathways
 12.08 ITGAM ITGB2 TLN1
4
Cell surface interactions at the vascular wall 66
Show member pathways
 11.81 ITGAM ITGB2 SELE SELL
5
Platelet activation 37
11.67 FERMT3 RASGRP2 TLN1
6
Cell adhesion molecules (CAMs) 37
11.62 ITGAM ITGB2 SELE SELL
7
Interleukin-4 and 13 signaling 66
11.6 IL17A ITGAM ITGB2
8
Adhesion 4
11.35 FERMT1 FERMT3 ITGB2 TLN1
9
Malaria 37
11.24 ITGB2 SELE
10
MSP-RON Signaling 64
11.22 ITGAM ITGB2
11
Cytoskeleton remodeling_RalA regulation pathway 22
11.18 ITGAM ITGB2 TLN1
12
amb2 Integrin signaling 1
11.18 ITGAM ITGB2 TLN1
13
Immune response_Role of integrins in NK cells cytotoxicity 22
11.17 ITGAM ITGB2
14
Paxillin-dependent events mediated by a4b1 1
Show member pathways
 11.15 ITGB2 TLN1
15
Cell adhesion_Cell-matrix glycoconjugates 22
11.07 SELE SELL
Sources

GO Terms for Leukocyte Adhesion Deficiency, Type I

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Cellular components related to Leukocyte Adhesion Deficiency, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.71 ITGAM ITGB2 SELL TLN1
2 membrane raft GO:0045121 9.61 ITGAM ITGB2 SELE
3 ruffle membrane GO:0032587 9.33 FERMT1 RASGRP2 TLN1
4 integrin complex GO:0008305 9.32 ITGAM ITGB2
5 plasma membrane raft GO:0044853 9.26 ITGAM ITGB2
6 external side of plasma membrane GO:0009897 9.26 IL17A ITGAM ITGB2 SELL
7 integrin alphaM-beta2 complex GO:0034688 8.62 ITGAM ITGB2
8 membrane GO:0016020 10.07 FERMT1 FERMT3 FUT6 ITGAM ITGB2 RASGRP2

Biological processes related to Leukocyte Adhesion Deficiency, Type I according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.62 ITGAM ITGB2 SELE SELL
2 platelet aggregation GO:0070527 9.52 FERMT3 TLN1
3 leukocyte tethering or rolling GO:0050901 9.51 SELE SELL
4 cell adhesion GO:0007155 9.5 FERMT1 FERMT3 ITGAM ITGB2 SELE SELL
5 toll-like receptor 4 signaling pathway GO:0034142 9.49 ITGAM ITGB2
6 positive regulation of superoxide anion generation GO:0032930 9.48 ITGAM ITGB2
7 cell-cell adhesion via plasma-membrane adhesion molecules GO:0098742 9.46 ITGAM ITGB2
8 amyloid-beta clearance GO:0097242 9.43 ITGAM ITGB2
9 integrin activation GO:0033622 9.4 FERMT3 TLN1
10 leukocyte migration involved in inflammatory response GO:0002523 9.37 ITGB2 SELE
11 leukocyte cell-cell adhesion GO:0007159 9.33 FERMT3 ITGB2 SELE
12 positive regulation of neutrophil degranulation GO:0043315 9.26 ITGAM ITGB2
13 integrin-mediated signaling pathway GO:0007229 9.02 FERMT1 FERMT3 ITGAM ITGB2 TLN1

Molecular functions related to Leukocyte Adhesion Deficiency, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oligosaccharide binding GO:0070492 8.96 SELE SELL
2 complement component C3b binding GO:0001851 8.62 ITGAM ITGB2
Sources

Sources for Leukocyte Adhesion Deficiency, Type I

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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