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LAD1
MCID: LKC009
MIFTS: 61

Leukocyte Adhesion Deficiency, Type I (LAD1)

Categories: Blood diseases, Eye diseases, Genetic diseases, Immune diseases, Rare 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 29 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: Eye diseases Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare eye diseases
Rare immunological diseases


External Ids:

OMIM 57 116920
Disease Ontology 12 DOID:6612
MeSH 44 D018370
MESH via Orphanet 45 D018370 C535887
ICD10 via Orphanet 34 D84.8
UMLS via Orphanet 74 C0242597 C0398738
KEGG 37 H00099
Sources

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 vasculitis. 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 Cytokine Signaling in Immune system. The drugs Ustekinumab and Interleukin-12 have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, bone and bone marrow, and related phenotypes are leukocytosis and gingivitis

Genetics Home Reference : 25 Leukocyte adhesion deficiency type 1 is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as viruses, bacteria, and fungi. Starting from birth, people with leukocyte adhesion deficiency type 1 develop serious bacterial and fungal infections.

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 top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 leukocyte adhesion deficiency, type iii 32.4 RASGRP2 ITGB2 FERMT3
2 vasculitis 29.7 SELL SELE ICAM1
3 congenital disorder of glycosylation, type iic 11.3
4 bullous pemphigoid 11.2
5 linear iga disease 11.2
6 epidermolysis bullosa, junctional, non-herlitz type 11.0
7 pyloric atresia 11.0
8 maturity-onset diabetes of the young, type 13 11.0
9 type 1 diabetes mellitus 5 11.0
10 type 1 diabetes mellitus 18 11.0
11 ochronosis 11.0
12 glucose metabolism disease 11.0
13 hematopoietic stem cell transplantation 10.2
14 boutonneuse fever 10.2 SELE SELL
15 retinitis pigmentosa 60 10.2 SELE SELL
16 pustulosis palmaris et plantaris 10.2 ITGB2 SELE
17 annular erythema 10.2 ITGB2 ICAM1
18 autoimmune enteropathy 10.1 IL17A ICAM1
19 autoimmune glomerulonephritis 10.1 ICAM1 ITGB2
20 heterophyiasis 10.1 SELE ICAM1
21 venous insufficiency 10.1 ICAM1 SELL
22 cohen syndrome 10.1 ITGAM SELL
23 pyoderma 10.1
24 periodontitis 10.1
25 pyoderma gangrenosum 10.1
26 hymenolepiasis 10.1 ICAM1 SELE
27 toxicodendron dermatitis 10.1 SELL ICAM1
28 aspiration pneumonia 10.1 IL17A ITGAM
29 subendocardial myocardial infarction 10.1 ICAM1 SELE
30 amebiasis 10.1 ICAM1 IL17A
31 actinic prurigo 10.1 ICAM1 SELE
32 autoimmune optic neuritis 10.1 IL17A ITGAM
33 periodontosis 10.1 ITGAM SELL
34 rheumatoid vasculitis 10.1 ICAM1 SELE
35 endophthalmitis 10.1 ICAM1 SELE
36 polyarteritis nodosa 10.1 SELE SELL
37 hydrocele 10.1 ICAM1 SELE
38 arthus reaction 10.1 ICAM1 SELL
39 hypersensitivity reaction type iii disease 10.1 ICAM1 SELE
40 shwartzman phenomenon 10.1 ICAM1 ITGAM
41 behcet syndrome 10.1 IL17A SELE SELL
42 chronic eosinophilic pneumonia 10.1 ICAM1 ITGAM
43 leishmaniasis 10.1 ITGB2 ITGAM IL17A
44 granulocytopenia 10.1 SELL ITGB2 ITGAM
45 plasmodium vivax malaria 10.1 ICAM1 SELE
46 vertebrobasilar insufficiency 10.0 ICAM1 SELE
47 mooren's ulcer 10.0 SELE ITGB2 ICAM1
48 bacterial infectious disease 10.0 SELL ITGAM IL17A
49 extrinsic cardiomyopathy 10.0 ICAM1 IL17A
50 allergic contact dermatitis 10.0 SELE IL17A ICAM1

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



Diseases related to Leukocyte Adhesion Deficiency, Type I
Sources

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 leukocytosis 32 frequent (33%) HP:0001974
2 gingivitis 32 HP:0000230
3 periodontitis 32 HP:0000704
4 rectal abscess 32 HP:0005224
5 recurrent staphylococcal infections 32 HP:0007499
6 recurrent gram-negative bacterial infections 32 HP:0005420

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.96 FERMT3 ICAM1 IL17A ITGAM ITGB2 RASGRP2
2 cellular MP:0005384 9.92 FERMT1 ICAM1 ITGAM ITGB2 SELE SELL
3 homeostasis/metabolism MP:0005376 9.9 FERMT1 FERMT3 ICAM1 IL17A ITGAM ITGB2
4 immune system MP:0005387 9.7 FERMT1 FERMT3 ICAM1 IL17A ITGAM ITGB2
5 integument MP:0010771 9.17 FERMT1 FERMT3 ICAM1 ITGB2 SELE SELL
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 all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ustekinumab Approved, Investigational Phase 2 815610-63-0
2 Interleukin-12 Phase 2
3 Dermatologic Agents Phase 2
4 Antibodies, Monoclonal Phase 2
5 Antibodies Phase 2
6 Immunologic Factors Phase 2
7 Immunoglobulins Phase 2
8 Yellow Dock

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Ustekinumab (Anti-IL-12/23p40 Monoclonal Antibody) in Patients With Leukocyte Adhesion Deficiency Type 1 (LAD1) Who Have Inflammatory Pathology Suspended NCT03366142 Phase 2
2 A Clinical Trial to Evaluate the Safety and Efficacy of RP-L201 in Subjects With Leukocyte Adhesion Deficiency-I Recruiting NCT03812263 Phase 1, Phase 2
3 Apheresis of Patients With Immunodeficiency Recruiting NCT01212055

Search NIH Clinical Center for Leukocyte Adhesion Deficiency, Type I

Cochrane evidence based reviews: leukocyte-adhesion deficiency syndrome

Sources

Genetic Tests for Leukocyte Adhesion Deficiency, Type I

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Genetic tests related to Leukocyte Adhesion Deficiency, Type I:

# Genetic test Affiliating Genes
1 Leukocyte Adhesion Deficiency 29
Sources

Anatomical Context for Leukocyte Adhesion Deficiency, Type I

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

41
Neutrophil, Bone, Bone Marrow, Monocytes, Endothelial, Skin, Liver
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 275)
# Title Authors Year
1
Allogeneic Hematopoietic Stem Cell Transplantation for Leukocyte Adhesion Deficiency. ( 29324573 )
2018
2
Long-term management of leukocyte adhesion deficiency type III without hematopoietic stem cell transplantation. ( 29472353 )
2018
3
Pyoderma Gangrenosum-like Wounds in Leukocyte Adhesion Deficiency: Case Report and Review of Literature. ( 30254829 )
2018
4
Leukocyte adhesion deficiency-I: A comprehensive review of all published cases. ( 29371071 )
2018
5
Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications. ( 29548898 )
2018
6
Genetic Analysis of 13 Iranian Families With Leukocyte Adhesion Deficiency Type 1. ( 29750748 )
2018
7
Leukocyte Adhesion Deficiency Type 1 with Low Expression of CD 11b. ( 29866230 )
2018
8
Palatal Ulcer in Leukocyte Adhesion Deficiency: an Unusual Occurrence. ( 30167939 )
2018
9
Leukocyte Adhesion Deficiency -A Multicenter National Experience. ( 30412664 )
2018
10
Hematopoietic stem cell transplantation for the treatment of leukocyte adhesion deficiency type III. ( 28827066 )
2017
11
Mutation characterization and heterodimer analysis of patients with leukocyte adhesion deficiency: Including one novel mutation. ( 28445705 )
2017
12
Interleukin-12 and Interleukin-23 Blockade in Leukocyte Adhesion Deficiency Type 1. ( 28328326 )
2017
13
Necrotizing Ulcer After BCG Vaccination in a Girl With Leukocyte-adhesion Deficiency Type 1. ( 28538512 )
2017
14
Leukocyte adhesion deficiency type I: A rare primary immunodeficiency disorder. ( 28107557 )
2017
15
Development of a fast and economical genotyping protocol for bovine leukocyte adhesion deficiency (BLAD) in cattle. ( 27652018 )
2016
16
Production and purification of high-titer foamy virus vector for the treatment of leukocyte adhesion deficiency. ( 27722179 )
2016
17
Mutation spectra of the ITGB2 gene in Iranian families with leukocyte adhesion deficiency type 1. ( 26639818 )
2016
18
Leukocyte Adhesion Deficiency Type 1 (LAD1) with Expressed but Nonfunctional CD11/CD18. ( 27492259 )
2016
19
Leukocyte Adhesion Deficiency IV. Monocyte Integrin Activation Deficiency in Cystic Fibrosis. ( 27174474 )
2016
20
Leukocyte Adhesion Deficiency-I: Clinical and Molecular Characterization in an Indian Population. ( 26924654 )
2016
21
Lentiviral Vector-Mediated Correction of a Mouse Model of Leukocyte Adhesion Deficiency Type I. ( 27056660 )
2016
22
Leukocyte Adhesion Deficiency III: Report of Two Siblings. ( 28043831 )
2016
23
Investigation of ITGB2 Gene in 12 New Cases of Leukocyte Adhesion Deficiency-Type I Revealed Four Novel Mutations from Iran. ( 26497373 )
2015
24
Role of bacteria in leukocyte adhesion deficiency-associated periodontitis. ( 26375893 )
2015
25
Budd-Chiari Syndrome in a Child With Leukocyte Adhesion Deficiency-A Rare Association. ( 26154877 )
2015
26
Molecular characterization of leukocyte adhesion deficiency-I in Indian patients: identification of 9 novel mutations. ( 25703682 )
2015
27
Subgingival microbial communities in Leukocyte Adhesion Deficiency and their relationship with local immunopathology. ( 25741691 )
2015
28
Successful adjunctive immunoglobulin treatment in patients affected by leukocyte adhesion deficiency type 1 (LAD-1). ( 25527966 )
2015
29
Highlighting the problematic reliance on CD18 for diagnosing leukocyte adhesion deficiency type 1. ( 26434744 )
2015
30
Loss of the Rap-1 effector RIAM results in leukocyte adhesion deficiency due to impaired I^2 integrin function in mice. ( 26337492 )
2015
31
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
32
Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3. ( 26359933 )
2015
33
Characterization of single amino acid substitutions in the I^2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1. ( 25514840 )
2015
34
Leukocyte Adhesion Deficiency-I with a Novel Intronic Mutation Presenting with Pyoderma Gangrenosum- Like Lesions. ( 25876705 )
2015
35
Correction: subgingival microbial communities in leukocyte adhesion deficiency and their relationship with local immunopathology. ( 25901574 )
2015
36
Defective neutrophil recruitment in leukocyte adhesion deficiency type I disease causes local IL-17-driven inflammatory bone loss. ( 24670684 )
2014
37
A Novel Mutation in Leukocyte Adhesion Deficiency Type II/CDGIIc. ( 25239688 )
2014
38
Bone loss in leukocyte adhesion deficiency reversed. ( 25080758 )
2014
39
Unusual neonatal presentation of type I leukocyte adhesion deficiency. ( 25024979 )
2014
40
Etiology of leukocyte adhesion deficiency-associated periodontitis revisited: not a raging infection but a raging inflammatory response. ( 24931458 )
2014
41
Prenatal diagnosis of leukocyte adhesion deficiency type-1 (five cases from iran with two new mutations). ( 24338230 )
2014
42
Leukocyte Adhesion Deficiency III - When Integrins Activation Fails. ( 25239689 )
2014
43
Leukocyte Adhesion Deficiency Type III: Clinical Features and Treatment With Stem Cell Transplantation. ( 25072369 )
2014
44
Type 1 leukocyte adhesion deficiency complicated by the presence of idiopathic liver cirrhosis. ( 25443357 )
2014
45
Long-term follow-up of foamy viral vector-mediated gene therapy for canine leukocyte adhesion deficiency. ( 23531552 )
2013
46
Incidence of bovine leukocyte adhesion deficiency, complex vertebral malformation, and deficiency of uridine-5-monophosphate synthase carriers in Brazilian Girolando cattle. ( 24065661 )
2013
47
Remission of Crohn's disease after cord blood transplantation for leukocyte adhesion deficiency type 1. ( 23334270 )
2013
48
Kindlin-3-independent adhesion of neutrophils from patients with leukocyte adhesion deficiency type III. ( 24342549 )
2013
49
Leukocyte adhesion deficiency type I in a mixed-breed dog. ( 23417082 )
2013
50
Lessons from rare maladies: leukocyte adhesion deficiency syndromes. ( 23207660 )
2013
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 277)
# Gene Variation Type Significance SNP ID Assembly Location
1 ITGB2 NM_000211.4(ITGB2): c.1777C> T (p.Arg593Cys) single nucleotide variant Pathogenic rs137852609 GRCh38 Chromosome 21, 44889376: 44889376
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.587A> C (p.Lys196Thr) single nucleotide variant Pathogenic rs137852610 GRCh37 Chromosome 21, 46321561: 46321561
4 ITGB2 NM_000211.4(ITGB2): c.587A> C (p.Lys196Thr) single nucleotide variant Pathogenic rs137852610 GRCh38 Chromosome 21, 44901646: 44901646
5 ITGB2 NM_000211.4(ITGB2): c.1777C> T (p.Arg593Cys) single nucleotide variant Pathogenic rs137852609 GRCh37 Chromosome 21, 46309291: 46309291
6 ITGB2 NM_000211.4(ITGB2): c.1756C> T (p.Arg586Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs5030672 GRCh37 Chromosome 21, 46309312: 46309312
7 ITGB2 NM_000211.4(ITGB2): c.1756C> T (p.Arg586Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs5030672 GRCh38 Chromosome 21, 44889397: 44889397
8 ITGB2 ITGB2, IVS?AS, -12, 12-BP INS insertion Pathogenic
9 ITGB2 NM_000211.4(ITGB2): c.1052A> G (p.Asn351Ser) single nucleotide variant Pathogenic rs137852613 GRCh37 Chromosome 21, 46314917: 46314917
10 ITGB2 NM_000211.4(ITGB2): c.1052A> G (p.Asn351Ser) single nucleotide variant Pathogenic rs137852613 GRCh38 Chromosome 21, 44895002: 44895002
11 ITGB2 NM_000211.4(ITGB2): c.533C> T (p.Pro178Leu) single nucleotide variant Pathogenic rs137852614 GRCh37 Chromosome 21, 46321615: 46321615
12 ITGB2 NM_000211.4(ITGB2): c.533C> T (p.Pro178Leu) single nucleotide variant Pathogenic rs137852614 GRCh38 Chromosome 21, 44901700: 44901700
13 ITGB2 NM_000211.4(ITGB2): c.382G> A (p.Asp128Asn) single nucleotide variant Pathogenic rs137852615 GRCh37 Chromosome 21, 46323397: 46323397
14 ITGB2 NM_000211.4(ITGB2): c.382G> A (p.Asp128Asn) single nucleotide variant Pathogenic rs137852615 GRCh38 Chromosome 21, 44903482: 44903482
15 ITGB2 ITGB2, IVSDS, G-A, +1 single nucleotide variant Pathogenic
16 ITGB2 NM_000211.4(ITGB2): c.850G> A (p.Gly284Ser) single nucleotide variant Pathogenic/Likely pathogenic rs137852616 GRCh37 Chromosome 21, 46320282: 46320282
17 ITGB2 NM_000211.4(ITGB2): c.850G> A (p.Gly284Ser) single nucleotide variant Pathogenic/Likely pathogenic rs137852616 GRCh38 Chromosome 21, 44900367: 44900367
18 ITGB2 NM_000211.4(ITGB2): c.412T> C (p.Ser138Pro) single nucleotide variant Pathogenic rs137852617 GRCh37 Chromosome 21, 46323367: 46323367
19 ITGB2 NM_000211.4(ITGB2): c.412T> C (p.Ser138Pro) single nucleotide variant Pathogenic rs137852617 GRCh38 Chromosome 21, 44903452: 44903452
20 ITGB2 NM_000211.4(ITGB2): c.817G> A (p.Gly273Arg) single nucleotide variant Pathogenic rs137852618 GRCh37 Chromosome 21, 46320315: 46320315
21 ITGB2 NM_000211.4(ITGB2): c.817G> A (p.Gly273Arg) single nucleotide variant Pathogenic rs137852618 GRCh38 Chromosome 21, 44900400: 44900400
22 ITGB2 ITGB2, IVS4AS, 169-BP DEL, -37 deletion Pathogenic
23 ITGB2 NM_000211.4(ITGB2): c.382G> T (p.Asp128Tyr) single nucleotide variant Pathogenic rs137852615 GRCh37 Chromosome 21, 46323397: 46323397
24 ITGB2 NM_000211.4(ITGB2): c.382G> T (p.Asp128Tyr) single nucleotide variant Pathogenic rs137852615 GRCh38 Chromosome 21, 44903482: 44903482
25 ITGB2 NM_000211.4(ITGB2): c.715G> A (p.Ala239Thr) single nucleotide variant Pathogenic rs179363873 GRCh37 Chromosome 21, 46321433: 46321433
26 ITGB2 NM_000211.4(ITGB2): c.715G> A (p.Ala239Thr) single nucleotide variant Pathogenic rs179363873 GRCh38 Chromosome 21, 44901518: 44901518
27 ITGB2 NM_000211.4(ITGB2): c.*403C> T single nucleotide variant Uncertain significance rs886057114 GRCh37 Chromosome 21, 46305880: 46305880
28 ITGB2 NM_000211.4(ITGB2): c.*403C> T single nucleotide variant Uncertain significance rs886057114 GRCh38 Chromosome 21, 44885965: 44885965
29 ITGB2 NM_000211.4(ITGB2): c.*167C> T single nucleotide variant Uncertain significance rs561251271 GRCh37 Chromosome 21, 46306116: 46306116
30 ITGB2 NM_000211.4(ITGB2): c.*167C> T single nucleotide variant Uncertain significance rs561251271 GRCh38 Chromosome 21, 44886201: 44886201
31 ITGB2 NM_000211.4(ITGB2): c.*145C> A single nucleotide variant Benign rs1160263 GRCh37 Chromosome 21, 46306138: 46306138
32 ITGB2 NM_000211.4(ITGB2): c.*145C> A single nucleotide variant Benign rs1160263 GRCh38 Chromosome 21, 44886223: 44886223
33 ITGB2 NM_000211.4(ITGB2): c.1464G> A (p.Arg488=) single nucleotide variant Conflicting interpretations of pathogenicity rs202051683 GRCh38 Chromosome 21, 44890171: 44890171
34 ITGB2 NM_000211.4(ITGB2): c.1464G> A (p.Arg488=) single nucleotide variant Conflicting interpretations of pathogenicity rs202051683 GRCh37 Chromosome 21, 46310086: 46310086
35 ITGB2 NM_000211.4(ITGB2): c.1413-8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs375743879 GRCh38 Chromosome 21, 44890230: 44890230
36 ITGB2 NM_000211.4(ITGB2): c.1413-8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs375743879 GRCh37 Chromosome 21, 46310145: 46310145
37 ITGB2 NM_000211.4(ITGB2): c.1323T> C (p.Val441=) single nucleotide variant Benign rs235326 GRCh38 Chromosome 21, 44891898: 44891898
38 ITGB2 NM_000211.4(ITGB2): c.1323T> C (p.Val441=) single nucleotide variant Benign rs235326 GRCh37 Chromosome 21, 46311813: 46311813
39 ITGB2 NM_000211.4(ITGB2): c.1026G> C (p.Val342=) single nucleotide variant Conflicting interpretations of pathogenicity rs142185460 GRCh37 Chromosome 21, 46314943: 46314943
40 ITGB2 NM_000211.4(ITGB2): c.1026G> C (p.Val342=) single nucleotide variant Conflicting interpretations of pathogenicity rs142185460 GRCh38 Chromosome 21, 44895028: 44895028
41 ITGB2 NM_000211.4(ITGB2): c.853C> T (p.Arg285Cys) single nucleotide variant Uncertain significance rs137959302 GRCh37 Chromosome 21, 46320279: 46320279
42 ITGB2 NM_000211.4(ITGB2): c.853C> T (p.Arg285Cys) single nucleotide variant Uncertain significance rs137959302 GRCh38 Chromosome 21, 44900364: 44900364
43 ITGB2 NM_000211.4(ITGB2): c.849C> T (p.Asp283=) single nucleotide variant Uncertain significance rs35013643 GRCh37 Chromosome 21, 46320283: 46320283
44 ITGB2 NM_000211.4(ITGB2): c.849C> T (p.Asp283=) single nucleotide variant Uncertain significance rs35013643 GRCh38 Chromosome 21, 44900368: 44900368
45 ITGB2 NM_000211.4(ITGB2): c.732C> T (p.Ala244=) single nucleotide variant Uncertain significance rs146557638 GRCh37 Chromosome 21, 46321416: 46321416
46 ITGB2 NM_000211.4(ITGB2): c.732C> T (p.Ala244=) single nucleotide variant Uncertain significance rs146557638 GRCh38 Chromosome 21, 44901501: 44901501
47 ITGB2 NM_000211.4(ITGB2): c.729C> T (p.Val243=) single nucleotide variant Uncertain significance rs199735877 GRCh37 Chromosome 21, 46321419: 46321419
48 ITGB2 NM_000211.4(ITGB2): c.729C> T (p.Val243=) single nucleotide variant Uncertain significance rs199735877 GRCh38 Chromosome 21, 44901504: 44901504
49 ITGB2 NM_000211.4(ITGB2): c.525C> T (p.Thr175=) single nucleotide variant Uncertain significance rs200134130 GRCh37 Chromosome 21, 46321623: 46321623
50 ITGB2 NM_000211.4(ITGB2): c.525C> T (p.Thr175=) single nucleotide variant Uncertain significance rs200134130 GRCh38 Chromosome 21, 44901708: 44901708
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 24)
# Super pathways Score Top Affiliating Genes
1
Cytokine Signaling in Immune system 66
Show member pathways
 13.08 ICAM1 IL17A ITGAM ITGB2 TLN1
2
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 12.94 FERMT3 ITGAM ITGB2 RASGRP2 SELE SELL
3
Ras signaling pathway 37
Show member pathways
 12.47 ITGAM ITGB2 RASGRP2 TLN1
4
Human T-cell leukemia virus 1 infection 37
12.18 ICAM1 ITGB2 TLN1
5
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 37
Show member pathways
 12.17 ITGAM ITGB2 TLN1
6
Immune response CCR3 signaling in eosinophils 22
Show member pathways
 12.08 ICAM1 ITGB2 TLN1
7
Cell surface interactions at the vascular wall 66
Show member pathways
 11.92 ITGAM ITGB2 SELE SELL
8
ECM-receptor interaction 37
Show member pathways
 11.89 ICAM1 ITGAM ITGB2
9
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell 66
11.82 ICAM1 ITGB2 SELL
10
Platelet activation 37
11.76 FERMT3 RASGRP2 TLN1
11
Rheumatoid arthritis 37
11.61 ICAM1 IL17A ITGB2
12
Interleukin-4 and 13 signaling 66
11.61 ICAM1 IL17A ITGAM ITGB2
13
Cell adhesion molecules (CAMs) 37
11.51 ICAM1 ITGAM ITGB2 SELE SELL
14
Staphylococcus aureus infection 37
11.38 ICAM1 ITGAM ITGB2
15
Malaria 37
11.3 ICAM1 ITGB2 SELE
16
Microglia Activation During Neuroinflammation: Steady-State Microglia 65
11.27 ITGAM ITGB2
17
Cytoskeleton remodeling_RalA regulation pathway 22
11.27 ITGAM ITGB2 TLN1
18
Thromboxane A2 receptor signaling 1
11.26 ICAM1 SELE
19
Paxillin-dependent events mediated by a4b1 1
Show member pathways
 11.25 ITGB2 TLN1
20
Immune response_Role of integrins in NK cells cytotoxicity 22
11.22 ICAM1 ITGAM ITGB2
21
Cell adhesion_Cell-matrix glycoconjugates 22
11.17 SELE SELL
22
amb2 Integrin signaling 1
11.14 ICAM1 ITGAM ITGB2 TLN1
23
African trypanosomiasis 37
11.11 ICAM1 SELE
24
Adhesion 4
11.11 FERMT1 FERMT3 ICAM1 ITGB2 TLN1
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 focal adhesion GO:0005925 9.67 FERMT1 ICAM1 ITGB2 TLN1
2 cell surface GO:0009986 9.65 ICAM1 ITGAM ITGB2 SELL TLN1
3 ruffle membrane GO:0032587 9.5 FERMT1 RASGRP2 TLN1
4 integrin complex GO:0008305 9.46 ITGAM ITGB2
5 membrane raft GO:0045121 9.46 ICAM1 ITGAM ITGB2 SELE
6 plasma membrane raft GO:0044853 9.4 ITGAM ITGB2
7 external side of plasma membrane GO:0009897 9.02 ICAM1 IL17A ITGAM ITGB2 SELL
8 integrin alphaM-beta2 complex GO:0034688 8.96 ITGAM ITGB2
9 membrane GO:0016020 10.13 FERMT1 FERMT3 ICAM1 ITGAM ITGB2 RASGRP2

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.77 ICAM1 ITGB2 SELL
2 extracellular matrix organization GO:0030198 9.77 ICAM1 ITGAM ITGB2
3 cytokine-mediated signaling pathway GO:0019221 9.73 ICAM1 IL17A ITGAM ITGB2
4 leukocyte migration GO:0050900 9.65 ICAM1 ITGAM ITGB2 SELE SELL
5 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.62 ICAM1 SELE
6 platelet aggregation GO:0070527 9.62 FERMT3 TLN1
7 positive regulation of nitric oxide biosynthetic process GO:0045429 9.61 ICAM1 ITGB2
8 positive regulation of neuron death GO:1901216 9.61 ITGAM ITGB2
9 positive regulation of protein targeting to membrane GO:0090314 9.58 ITGAM ITGB2
10 cell adhesion mediated by integrin GO:0033627 9.58 ICAM1 ITGB2
11 microglial cell activation GO:0001774 9.57 ITGAM ITGB2
12 leukocyte tethering or rolling GO:0050901 9.56 SELE SELL
13 toll-like receptor 4 signaling pathway GO:0034142 9.55 ITGAM ITGB2
14 positive regulation of superoxide anion generation GO:0032930 9.54 ITGAM ITGB2
15 amyloid-beta clearance GO:0097242 9.52 ITGAM ITGB2
16 cell-cell adhesion via plasma-membrane adhesion molecules GO:0098742 9.51 ITGAM ITGB2
17 integrin activation GO:0033622 9.49 FERMT3 TLN1
18 leukocyte migration involved in inflammatory response GO:0002523 9.48 ITGB2 SELE
19 positive regulation of microglial cell activation GO:1903980 9.46 ITGAM ITGB2
20 leukocyte cell-cell adhesion GO:0007159 9.46 FERMT3 ICAM1 ITGB2 SELE
21 negative regulation of dopamine metabolic process GO:0045963 9.4 ITGAM ITGB2
22 positive regulation of neutrophil degranulation GO:0043315 9.37 ITGAM ITGB2
23 integrin-mediated signaling pathway GO:0007229 9.35 FERMT1 FERMT3 ITGAM ITGB2 TLN1
24 positive regulation of prostaglandin-E synthase activity GO:2000363 9.32 ITGAM ITGB2
25 cell adhesion GO:0007155 9.23 FERMT1 FERMT3 ICAM1 ITGAM ITGB2 SELE

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 9.16 SELE SELL
2 complement component C3b binding GO:0001851 8.96 ITGAM ITGB2
3 integrin binding GO:0005178 8.92 FERMT3 ICAM1 ITGB2 TLN1
Sources

Sources for Leukocyte Adhesion Deficiency, Type I

About this section
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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