MCID: LKC001
MIFTS: 75

Leukocyte Adhesion Deficiency malady

Genetic diseases, Rare diseases, Blood diseases, Immune diseases categories

Summaries for Leukocyte Adhesion Deficiency

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OMIM:47 Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a... (116920) more...

MalaCards based summary: Leukocyte Adhesion Deficiency, also known as leukocyte adhesion deficiency type 1, is related to psoriasis and vasculitis, and has symptoms including abnormality of the tongue, abnormality of the palate and microcephaly. An important gene associated with Leukocyte Adhesion Deficiency is ITGB2 (integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)), and among its related pathways are amb2 Integrin signaling and Legionellosis. The compounds gdp fucose and tyrosine sulfate have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, monocytes and bone, and related mouse phenotypes are integument and respiratory system.

Genetics Home Reference:23 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.

Wikipedia:65 Leukocyte adhesion deficiency (LAD), is a rare autosomal recessive disorder characterized by... more...

Aliases & Classifications for Leukocyte Adhesion Deficiency

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Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 63UMLS via Orphanet, 36MESH via Orphanet, 28ICD10 via Orphanet
See all sources

Leukocyte Adhesion Deficiency, Aliases & Descriptions:

Name: Leukocyte Adhesion Deficiency 47 10 11 12 49
Leukocyte Adhesion Deficiency Type 1 43 22 23 62
Leukocyte-Adhesion Deficiency Syndrome 10 12 62
Congenital Leukocyte Adherence Deficiency 10 62
Leukocyte Adhesion Deficiency Type I 49 24
Lad 43 49
Lymphocyte Function-Associated Antigen 1 Immunodeficiency 43
Leukocyte Adhesion Molecule Deficiency Type 1 23
 
Leukocyte Adhesion Deficiency Syndrome 45
Leukocyte Adhesion Deficiency, Type I 45
Leucocyte Adhesion Deficiency Type 1 23
Lfa 1 Immunodeficiency 43
Lad 1 43
Lad-I 49
Lad1 23


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases, Immune diseases


Characteristics (Orphanet epidemiological data):

49
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


External Ids:

OMIM47 116920
Disease Ontology10 DOID:6612, DOID:611
NCIt40 C27874
MeSH35 D018370
SNOMED-CT57 77358003
Orphanet49 2968, 99842
UMLS via Orphanet63 C0242597, C0398738
MESH via Orphanet36 D018370, C535887
ICD10 via Orphanet28 D84.8

Related Diseases for Leukocyte Adhesion Deficiency

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Diseases related to Leukocyte Adhesion Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1psoriasis30.2SELE, SELP, ITGB2, ITGAL, IL1B
2vasculitis30.1SELL, SELP, ITGB2, ITGAX, SELE, ITGAM
3leukemia30.1ITGAX, ITGAM, ITGB2, SELL, ITGAL, RAP1A
4leukocyte adhesion deficiency, type iii10.6
5hematopoietic stem cell transplantation10.5
6periodontitis10.5
7pyoderma gangrenosum10.4
8pyoderma10.4
9congenital disorder of glycosylation, type iic10.4
10epidermolysis bullosa acquisita10.3
11linear iga disease10.3
12chronic granulomatous disease10.3
13endotheliitis10.3
14bullous pemphigoid10.2
15junctional epidermolysis bullosa10.2
16crohn's disease10.1
17liver cirrhosis10.1
18neutropenia10.1
19severe congenital neutropenia10.1
20focal epithelial hyperplasia10.1
21ecthyma10.1
22leukemoid reaction10.1
23amyloidosis10.1
24dermatitis10.1
25mastitis10.1
26osteomyelitis10.1
27otitis media10.1
28mast-cell sarcoma10.1
29sarcoma10.1
30pustulosis palmaris et plantaris10.1SELE
31peripheral vascular disease10.0SELP, SELE
32plummer's disease10.0SELL, SELE
33synovitis10.0ITGB2, IL1B, SELE
34thrombotic thrombocytopenic purpura, acquired10.0SELE, SELP
35tropical spastic paraparesis10.0ITGB2, ITGAL
36lichen planus10.0ITGAM, ITGB2, ITGAL
37thrombophilia due to thrombin defect10.0ITGB2, SELP, ITGAM
38malaria10.0SELP, IL1B, SELE
39peritonitis10.0SELP, IL1B, ITGB2
40acute respiratory distress syndrome10.0SELP, IL1B, SELE
41cutaneous t cell lymphoma10.0ITGAL, SELE, SELL
42glomerulonephritis10.0ITGAL, IL1B, ITGB2
43sickle cell disease10.0SELL, SELE, SELP
44iga glomerulonephritis10.0ITGAL, SELE, SELL
45hypercholesterolemia, familial10.0SELP, ITGAM, SELE
46systemic scleroderma10.0SELL, ITGB2, SELE
47congenital heart disease10.0SELE, IL1B, SELP
48myeloid leukemia10.0ITGAM, ITGB2, RAP1A, ITGAL
49graves' disease10.0ITGAL, ITGB2, SELE, SELL
50systemic lupus erythematosus10.0ITGB2, ITGAL, SELE, ITGAM

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



Diseases related to leukocyte adhesion deficiency

Symptoms for Leukocyte Adhesion Deficiency

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Symptoms by clinical synopsis from OMIM:

116920

Clinical features from OMIM:

116920

Symptoms:

 49 (show all 27)
  • microcephaly
  • flat face
  • hypertelorism
  • enlargment of jaw/large jaw
  • strabismus/squint
  • epicanthic folds
  • broad nasal root
  • anteverted nares/nostrils
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • high vaulted/narrow palate
  • low hair line (back)
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • red cell disorders
  • white cell disorders
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • dolichocephaly/scaphocephaly
  • large fontanelle/delayed fontanelle closure
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • anomalies of ear and hearing
  • low set ears/posteriorly rotated ears
  • umbilical hernia

HPO human phenotypes related to Leukocyte Adhesion Deficiency:

(show all 34)
id Description Frequency HPO Source Accession
1 abnormality of the tongue hallmark (90%) HP:0000157
2 abnormality of the palate hallmark (90%) HP:0000174
3 microcephaly hallmark (90%) HP:0000252
4 malar flattening hallmark (90%) HP:0000272
5 abnormality of the mandible hallmark (90%) HP:0000277
6 epicanthus hallmark (90%) HP:0000286
7 hypertelorism hallmark (90%) HP:0000316
8 wide nasal bridge hallmark (90%) HP:0000431
9 anteverted nares hallmark (90%) HP:0000463
10 strabismus hallmark (90%) HP:0000486
11 seizures hallmark (90%) HP:0001250
12 muscular hypotonia hallmark (90%) HP:0001252
13 abnormality of erythrocytes hallmark (90%) HP:0001877
14 abnormality of leukocytes hallmark (90%) HP:0001881
15 cerebral cortical atrophy hallmark (90%) HP:0002120
16 low posterior hairline hallmark (90%) HP:0002162
17 short stature hallmark (90%) HP:0004322
18 abnormality of immune system physiology hallmark (90%) HP:0010978
19 cognitive impairment hallmark (90%) HP:0100543
20 abnormality of the fontanelles or cranial sutures typical (50%) HP:0000235
21 dolichocephaly typical (50%) HP:0000268
22 hearing abnormality typical (50%) HP:0000364
23 low-set, posteriorly rotated ears typical (50%) HP:0000368
24 downslanted palpebral fissures typical (50%) HP:0000494
25 delayed eruption of teeth typical (50%) HP:0000684
26 umbilical hernia typical (50%) HP:0001537
27 autosomal recessive inheritance HP:0000007
28 gingivitis HP:0000230
29 periodontitis HP:0000704
30 abnormality of metabolism/homeostasis HP:0001939
31 leukocytosis HP:0001974
32 rectal abscess HP:0005224
33 recurrent gram-negative bacterial infections HP:0005420
34 recurrent staphylococcal infections HP:0007499

Drugs & Therapeutics for Leukocyte Adhesion Deficiency

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Drug clinical trials:

Search ClinicalTrials for Leukocyte Adhesion Deficiency

Search NIH Clinical Center for Leukocyte Adhesion Deficiency

Genetic Tests for Leukocyte Adhesion Deficiency

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Genetic tests related to Leukocyte Adhesion Deficiency:

id Genetic test Affiliating Genes
1 Leukocyte Adhesion Deficiency, Type 122 ITGB2
2 Leukocyte Adhesion Deficiency Type 124

Anatomical Context for Leukocyte Adhesion Deficiency

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MalaCards organs/tissues related to Leukocyte Adhesion Deficiency:

33
Neutrophil, Monocytes, Bone, Bone marrow, Tongue, Testes, Whole blood, Skin, Endothelial, Liver, Myeloid, Nk cells

Animal Models for Leukocyte Adhesion Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Leukocyte Adhesion Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.6CYSLTR2, SELL, SELE, SELP, FERMT3, ITGB2
2MP:00053888.5CYSLTR2, FUT8, SELL, SELE, SELP, SLC35C1
3MP:00053858.2CYSLTR2, SELL, SELE, SELP, FERMT3, ITGB2
4MP:00053847.6SELE, SELP, ITGB2, ITGAL, ITGAM, RAP1A
5MP:00107687.3FUT8, SELE, SELP, FERMT3, TSTA3, ITGB2
6MP:00053766.1CYSLTR2, SELL, SELE, SELP, FERMT3, TSTA3
7MP:00053974.9SLAMF6, SELL, SELE, SELP, FERMT3, TSTA3
8MP:00053874.8TSTA3, FERMT3, SELP, SELE, SELL, CYSLTR2

Publications for Leukocyte Adhesion Deficiency

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Articles related to Leukocyte Adhesion Deficiency:

(show top 50)    (show all 241)
idTitleAuthorsYear
1
Subgingival microbial communities in Leukocyte Adhesion Deficiency and their relationship with local immunopathology. (25741691)
2015
2
Bone loss in leukocyte adhesion deficiency reversed. (25080758)
2014
3
A Novel Mutation in Leukocyte Adhesion Deficiency Type II/CDGIIc. (25239688)
2014
4
Kindlin-3-independent adhesion of neutrophils from patients with leukocyte adhesion deficiency type III. (24342549)
2013
5
Leukocyte adhesion deficiency type I in a mixed-breed dog. (23417082)
2013
6
Hematologically important mutations: leukocyte adhesion deficiency (first update). (22134107)
2012
7
Identification of a null allele in genetic tests for bovine leukocyte adhesion deficiency in Pakistani Bos indicus A9 Bos taurus cattle. (22374219)
2012
8
Gene therapy of canine leukocyte adhesion deficiency using lentiviral vectors with human CD11b and CD18 promoters driving canine CD18 expression. (20859258)
2011
9
Screening for bovine leukocyte adhesion deficiency, deficiency of uridine monophosphate synthase, complex vertebral malformation, bovine citrullinaemia, and factor XI deficiency in Holstein cows reared in Turkey. (20929557)
2010
10
Leukocyte adhesion deficiency type 1 presenting with recurrent pyoderma gangrenosum and flaccid scarring. (20807363)
2010
11
Leukocyte adhesion deficiency: report of two family related newborn infants. (21279944)
2010
12
The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1. (18709451)
2009
13
ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency. (19864007)
2009
14
Leukocyte adhesion deficiency type 1: an important consideration in the clinical differential diagnosis of prepubertal periodontitis. A case report and review of the literature. (17618138)
2008
15
Genetics, biology and clinical management of myeloid cell primary immune deficiencies: chronic granulomatous disease and leukocyte adhesion deficiency. (17133097)
2007
16
Mice lacking the signaling molecule CalDAG-GEFI represent a model for leukocyte adhesion deficiency type III. (17492052)
2007
17
Leukocyte adhesion deficiency in a female patient without delayed umbilical cord separation. (17489834)
2007
18
Golgi GDP-fucose transporter-deficient mice mimic congenital disorder of glycosylation IIc/leukocyte adhesion deficiency II. (17276979)
2007
19
Low incidence of bovine leukocyte adhesion deficiency (BLAD) carriers in Indian cattle and buffalo breeds. (17495349)
2007
20
Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1. (17244687)
2007
21
Leukocyte adhesion deficiency type 1 presenting as leukemoid reaction. (18174651)
2007
22
Successful allogeneic stem cell transplant for leukocyte adhesion deficiency using an adjusted busulfan-containing regimen. (17493230)
2007
23
Preimplantation genetic diagnosis of leukocyte adhesion deficiency type I. (16595236)
2006
24
Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter. (16455955)
2006
25
Reproductive capability in dogs with canine leukocyte adhesion deficiency treated with nonmyeloablative conditioning prior to allogeneic hematopoietic stem cell transplantation. (16645166)
2006
26
Core fucosylation of N-linked glycans in leukocyte adhesion deficiency/congenital disorder of glycosylation IIc fibroblasts. (15917429)
2005
27
A novel genetic leukocyte adhesion deficiency in subsecond triggering of integrin avidity by endothelial chemokines results in impaired leukocyte arrest on vascular endothelium under shear flow. (12595312)
2003
28
Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation. (12116250)
2002
29
Cytokine profile of a Holstein calf with bovine leukocyte adhesion deficiency during the acute-phase inflammatory response. (12520109)
2002
30
The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. (11326279)
2001
31
Bilateral acute coalescent mastoiditis in an immunocompromised infant with a rare leukocyte adhesion deficiency. (10352452)
1999
32
Correction of leukocyte adhesion deficiency type II with oral fucose. (10590041)
1999
33
Leukocyte adhesion deficiency disorder in an infant. (12783642)
1999
34
A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1. (9884339)
1999
35
Defective intracellular activity of GDP-D-mannose-4,6-dehydratase in leukocyte adhesion deficiency type II syndrome. (9662431)
1998
36
Leukocyte emigration in normal calves and calves with leukocyte adhesion deficiency. (9450245)
1997
37
Prevalence and allele frequency estimation of bovine leukocyte adhesion deficiency (BLAD) in Holstein-Friesian cattle in Japan. (9152929)
1997
38
Relationship of bovine leukocyte adhesion deficiency with genetic merit for performance traits. (8792288)
1996
39
Molecular characterization of leukocyte adhesion deficiency in six patients. (7705401)
1995
40
Detection of bovine leukocyte adhesion deficiency by nonisotopic ligase chain reaction. (7912052)
1994
41
Leukocyte adhesion deficiency: recurrent childhood skin infections. (8034795)
1994
42
Aberrant capping of membrane proteins on neutrophils from patients with leukocyte adhesion deficiency. (8123856)
1994
43
Spin-trapping and chemiluminescence studies of neutrophils from a Holstein-Friesian calf with bovine leukocyte adhesion deficiency. (8396554)
1993
44
Ventral dermatitis and vasculitis in a calf with bovine leukocyte adhesion deficiency. (8440633)
1993
45
Defective mononuclear cell antibody-dependent cellular cytotoxicity (ADCC) in patients with leukocyte adhesion deficiency emphasizing on different CD11/CD18 requirement of Fc gamma RI versus Fc gamma RII in ADCC. (8098672)
1993
46
An in vivo animal model of gene therapy for leukocyte adhesion deficiency. (1680882)
1991
47
Transfection of cells from patients with leukocyte adhesion deficiency with an integrin beta subunit (CD18) restores lymphocyte function-associated antigen-1 expression and function. (1968909)
1990
48
Leukocyte adhesion deficiency. Aberrant splicing of a conserved integrin sequence causes a moderate deficiency phenotype. (2464599)
1989
49
Leukocyte adhesion deficiency: molecular basis and functional consequences. (3078709)
1988
50
Heterogeneous mutations in the beta subunit common to the LFA-1, Mac-1, and p150,95 glycoproteins cause leukocyte adhesion deficiency. (3594570)
1987

Variations for Leukocyte Adhesion Deficiency

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

64 (show all 15)
id Symbol AA change Variation ID SNP ID
1ITGB2p.Asp128AsnVAR_003984rs137852615
2ITGB2p.Leu149ProVAR_003985rs137852611
3ITGB2p.Gly169ArgVAR_003986rs137852612
4ITGB2p.Pro178LeuVAR_003987rs137852614
5ITGB2p.Lys196ThrVAR_003988rs137852610
6ITGB2p.Gly284SerVAR_003989rs137852616
7ITGB2p.Asn351SerVAR_003990rs137852613
8ITGB2p.Arg586TrpVAR_003991rs5030672
9ITGB2p.Arg593CysVAR_003992rs137852609
10ITGB2p.Ser138ProVAR_013402rs137852617
11ITGB2p.Gly273ArgVAR_013403rs137852618
12ITGB2p.Asp128TyrVAR_065661rs137852615
13ITGB2p.Ala239ThrVAR_065662rs179363873
14ITGB2p.Asp300ValVAR_065663rs179363874
15ITGB2p.Gly716AlaVAR_065664rs179363872

Clinvar genetic disease variations for Leukocyte Adhesion Deficiency:

7 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1ITGB2NM_000211.3(ITGB2): c.1030G> T (p.Glu344Ter)single nucleotide variantPathogenicrs483352816GRCh37Chr 21, 46314939: 46314939
2ITGB2NM_000211.3(ITGB2): c.1143delC (p.Tyr382Thrfs)deletionPathogenicrs483352817GRCh37Chr 21, 46313400: 46313400
3ITGB2NM_000211.3(ITGB2): c.1877+2T> Csingle nucleotide variantPathogenicrs483352818GRCh37Chr 21, 46309189: 46309189
4ITGB2NM_000211.3(ITGB2): c.1907delA (p.Lys636Argfs)deletionPathogenicrs483352819GRCh37Chr 21, 46308781: 46308781
5ITGB2NM_000211.3(ITGB2): c.329-6C> Tsingle nucleotide variantPathogenicrs9983887GRCh37Chr 21, 46323456: 46323456
6ITGB2NM_000211.3(ITGB2): c.576dupC (p.Asn193Glnfs)duplicationPathogenicrs483352813GRCh37Chr 21, 46321572: 46321572
7ITGB2NM_000211.3(ITGB2): c.706G> A (p.Gly236Arg)single nucleotide variantLikely pathogenicrs483352814GRCh37Chr 21, 46321442: 46321442
8ITGB2NM_000211.3(ITGB2): c.843delC (p.Asn282Thrfs)deletionPathogenicrs483352815GRCh37Chr 21, 46320289: 46320289
9ITGB2NM_000211.3(ITGB2): c.897+1G> Asingle nucleotide variantPathogenicrs201752283GRCh37Chr 21, 46320234: 46320234
10ITGB2NM_000211.3(ITGB2): c.897+1G> Tsingle nucleotide variantPathogenicrs201752283GRCh37Chr 21, 46320234: 46320234
11SLC35C1SLC35C1, GLU31TERundetermined variantPathogenic
12SLC35C1SLC35C1, 3-BP DEL, 501CTTdeletionPathogenic
13FERMT3FERMT3, IVS13AS, A-G, -2single nucleotide variantPathogenic
14FERMT3NM_178443.2(FERMT3): c.48G> A (p.Trp16Ter)single nucleotide variantPathogenicrs121918296GRCh37Chr 11, 63974884: 63974884
15FERMT3NM_178443.2(FERMT3): c.1729C> T (p.Arg577Ter)single nucleotide variantPathogenicrs121918297GRCh37Chr 11, 63990566: 63990566
16FERMT3NM_178443.2(FERMT3): c.687G> A (p.Trp229Ter)single nucleotide variantPathogenicrs121918298GRCh37Chr 11, 63979120: 63979120
17FERMT3NM_178443.2(FERMT3): c.1537C> T (p.Arg513Ter)single nucleotide variantPathogenicrs121918295GRCh37Chr 11, 63988121: 63988121
18FERMT3FERMT3, GLY308ARGsingle nucleotide variantPathogenic
19FERMT3FERMT3, 1-BP DEL, 1275TdeletionPathogenic
20FERMT3FERMT3, IVS2AS, A-C, -2single nucleotide variantPathogenic
21SLC35C1NM_018389.4(SLC35C1): c.439C> T (p.Arg147Cys)single nucleotide variantPathogenicrs28939087GRCh37Chr 11, 45827791: 45827791
22SLC35C1NM_018389.4(SLC35C1): c.923C> G (p.Thr308Arg)single nucleotide variantPathogenicrs28937886GRCh37Chr 11, 45832714: 45832714
23ITGB2NM_000211.3(ITGB2): c.382G> T (p.Asp128Tyr)single nucleotide variantPathogenicrs137852615GRCh37Chr 21, 46323397: 46323397
24ITGB2NM_000211.3(ITGB2): c.715G> A (p.Ala239Thr)single nucleotide variantPathogenicrs179363873GRCh37Chr 21, 46321433: 46321433

Expression for genes affiliated with Leukocyte Adhesion Deficiency

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Search GEO for disease gene expression data for Leukocyte Adhesion Deficiency.

Pathways for genes affiliated with Leukocyte Adhesion Deficiency

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Pathways related to Leukocyte Adhesion Deficiency according to GeneCards/GeneDecks:

(show all 43)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7SELP, ITGB2, ITGAM
29.6ITGB2, ITGAM, IL1B
39.6IL1B, ITGAM, ITGB2
49.6IL1B, ITGAM, ITGB2
59.6IL1B, ITGAM, ITGB2
6
Show member pathways
Immune response Alternative complement pathway60
Immune response Lectin Induced complement pathway60
Immune response Classic complement pathway60
9.3ITGAM, ITGAX, ITGB2
79.3RASGRP1, RAP1A, RASGRP2
8
Show member pathways
TCR signaling in naive CD8+ T cells38
9.3RASGRP1, RAP1A, RASGRP2
9
Show member pathways
G protein signaling M RAS regulation pathway60
9.3RASGRP2, RAP1A, RASGRP1
10
Show member pathways
9.3RASGRP2, RAP1A, RASGRP1
119.1ITGAM, ITGAL, ITGB2
129.1ITGAL, ITGB2, SELL
139.1ITGB2, ITGAL, IL1B
149.0ITGB2, ITGAX, ITGAM, IL1B
15
Show member pathways
MAPK signaling pathway38
8.9RASGRP1, RAP1A, RASGRP2, IL1B
168.8SELP, ITGB2, ITGAL, ITGAM
17
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
8.8ITGB2, ITGAL, RASGRP2, RAP1A
188.7ITGAM, ITGAL, ITGAX
198.7RAP1A, ITGAM, ITGAL, ITGB2
208.6SELE, SELP, ITGB2, ITGAL, IL1B
21
Show member pathways
8.5ITGAM, ITGAL, ITGAX, ITGB2
22
Show member pathways
8.5ITGB2, ITGAX, ITGAL, ITGAM
23
Show member pathways
8.5ITGB2, ITGAX, ITGAL, ITGAM
24
Show member pathways
8.5ITGB2, ITGAX, ITGAL, ITGAM
25
Show member pathways
8.5ITGAM, ITGAL, ITGAX, ITGB2
268.5ITGB2, ITGAX, ITGAL, ITGAM
27
Show member pathways
8.5ITGB2, ITGAX, ITGAL, ITGAM
28
Show member pathways
8.5ITGB2, ITGAX, ITGAL, ITGAM
298.5ITGAM, ITGAL, ITGAX, ITGB2
308.5ITGB2, ITGAX, ITGAL, ITGAM
318.3SELL, SELE, SELP, ITGB2, ITGAL, ITGAM
32
Show member pathways
8.1ITGB2, ITGAX, ITGAL, ITGAM, IL1B
33
Show member pathways
8.1ITGB2, ITGAX, ITGAL, ITGAM, IL1B
34
Show member pathways
8.1ITGB2, ITGAX, ITGAL, ITGAM, RAP1A
35
Show member pathways
8.1ITGB2, ITGAX, ITGAL, ITGAM, RAP1A
36
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
8.1ITGB2, ITGAX, ITGAL, ITGAM, RAP1A
37
Show member pathways
8.1ITGB2, ITGAX, ITGAL, ITGAM, RAP1A
38
Show member pathways
7.9ITGB2, ITGAL, ITGAM, RASGRP2, RAP1A, RASGRP1
39
Show member pathways
7.9SELL, ITGB2, ITGAL, RASGRP2, RAP1A, RASGRP1
40
Show member pathways
7.6SELL, SELE, SELP, ITGB2, ITGAX, ITGAL
41
Show member pathways
6.9ITGB2, ITGAX, ITGAL, ITGAM, IL1B, RASGRP2
42
Show member pathways
6.9ITGB2, ITGAX, ITGAL, ITGAM, IL1B, RASGRP2
43
Show member pathways
6.4RASGRP1, SELL, SELE, SELP, ITGB2, ITGAX

Compounds for genes affiliated with Leukocyte Adhesion Deficiency

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Compounds related to Leukocyte Adhesion Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 106)
idCompoundScoreTop Affiliating Genes
1gdp fucose4510.0GMDS, SELE, FUT8
2tyrosine sulfate459.9SELL, SELE, SELP
3sele459.9SELL, SELP, SELE
4polylactosamine459.9SELP, SELE, SELL
55-oxoete459.8ITGAM, CYSLTR2, SELL
6hydroxyethyl starch459.7ITGAM, SELP, SELE, SELL
7ptca459.7ITGB2, ITGAM, SELP
8piroxicam45 1310.6ITGB2, ITGAM, IL1B
9polyacrylonitrile459.5ITGB2, ITGAM, ITGAL
10polysulfone459.4ITGAM, IL1B, ITGB2, SELP, SELL
11dmso459.4SELE, ITGB2, SELL, ITGAM, SELP
12pentoxifylline45 1310.3SELL, ITGB2, ITGAM, SELP, IL1B
13rolipram45 61 3011.3SELL, SELE, ITGB2, ITGAM, RAP1A
14epinephrine45 26 1311.3SELE, SELL, ITGAM, SELP, CYSLTR2
15slea459.2ITGAL, SELP, SELE, SELL
16prostacyclin459.2SELE, IL1B, RAP1A, SELP, CYSLTR2
17sulfatide459.2ITGAL, SELP, SELE, SELL
18sb 20358045 6110.1IL1B, ITGAM, ITGB2, SELE, SELL
19genistein45 30 61 3 26 1314.0IL1B, ITGAM, ITGB2, SELP, SELE, SELL
20theophylline45 30 26 1312.0SELP, ITGAL, ITGAM, SELL
21atorvastatin45 51 30 26 1313.0SELL, SELE, ITGAM, SELP
22ly294002458.9ITGAM, RAP1A, IL1B, SELP, SELE, ITGB2
23adenylate458.9SELE, CYSLTR2, ITGB2, RAP1A, SELP, ITGAM
24pravastatin45 51 30 26 1312.9IL1B, ITGAL, SELP, SELE
25histamine45 30 2610.8ITGB2, SELP, IL1B, ITGAM, SELE, SELL
26indomethacin45 30 61 1311.8SELL, ITGAX, ITGAM, IL1B, ITGB2
27polysaccharide458.8FUT8, SELL, SELE, SELP, TSTA3, ITGB2
28slex458.7SELP, ITGAL, ITGB2, SELE, SELL, ITGAM
29prednisolone45 30 1310.7ITGAL, ITGAM, SELL, ITGB2
30simvastatin45 51 61 30 26 1313.7ITGAM, ITGB2, SELP, SELE, SELL, ITGAL
31phorbol-12-myristate458.6ITGAM, ITGAL, ITGB2, ITGAX, SELL
32cytochalasin d45 619.6ITGAL, SELL, SELE, ITGAX, ITGB2
33cuprophan458.6ITGAM, ITGB2, SELP, ITGAL, SELL, IL1B
34endotoxin458.6IL1B, ITGAM, ITGAL, ITGB2, SELE, SELL
35isoproterenol45 139.5RAP1A, ITGAM, SELE, ITGB2, SELL, ITGAL
36vegf458.4CYSLTR2, SELL, SELE, SELP, IL1B, ITGB2
37fibrinogen458.3ITGAL, ITGAM, ITGAX, ITGB2, SELP, SELE
38n-formylmethionyl-leucylphenylalanine458.3ITGB2, ITGAM, ITGAX, ITGAL, SELP, SELL
39rantes458.3IL1B, SELL, SELE, ITGB2, SELP, ITGAM
40aspirin45 51 30 2611.3SELL, ITGAM, ITGAL, IL1B, SELE, SELP
41phorbol458.1ITGB2, ITGAL, RAP1A, SELL, ITGAM, ITGAX
42cycloheximide457.9SELE, ITGAM, IL1B, ITGAL, ITGAX, SELL
43pge2457.8SELE, SELL, ITGAM, RAP1A, IL1B, CYSLTR2
44heparin45 30 26 1310.8SELE, SELP, SELL, CYSLTR2, ITGAX, ITGAM
45superoxide45 268.7ITGAX, SELL, ITGAL, ITGB2, RAP1A, IL1B
46leukotriene b445 61 269.7ITGB2, ITGAL, IL1B, ITGAM, CYSLTR2, ITGAX
47oxygen45 268.6RAP1A, ITGAL, CYSLTR2, SELL, ITGB2, ITGAX
48retinoic acid45 268.6SELP, ITGB2, ITGAX, ITGAL, ITGAM, IL1B
49nitric oxide45 26 139.3ITGAX, CYSLTR2, SELE, SELP, ITGB2, RAP1A
50fmlp457.2ITGB2, IL1B, RAP1A, ITGAM, ITGAL, SELP

GO Terms for genes affiliated with Leukocyte Adhesion Deficiency

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Cellular components related to Leukocyte Adhesion Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integrin complexGO:00083058.5ITGAM, ITGAL, ITGAX, ITGB2
2external side of plasma membraneGO:00098977.8SELL, SELP, ITGAX, ITGAL, ITGAM
3extracellular vesicular exosomeGO:00700627.3FERMT3, TSTA3, GMDS, ITGB2, ITGAL, RAP1A
4plasma membraneGO:00058865.5ITGB2, SELP, SELE, SELL, CYSLTR2, ITGAX

Biological processes related to Leukocyte Adhesion Deficiency according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1de novo GDP-L-fucose biosynthetic processGO:004235110.0GMDS, TSTA3
2GDP-mannose metabolic processGO:001967310.0GMDS, TSTA3
3leukocyte tethering or rollingGO:00509019.9SELP, SELE
4neutrophil chemotaxisGO:00305939.8ITGB2, ITGAM, IL1B
5response to ATPGO:00331989.8IL1B, SELL
6positive regulation of leukocyte migrationGO:00026879.7SELP, SELE
7activated T cell proliferationGO:00507989.4ITGAM, ITGAL
8heterophilic cell-cell adhesionGO:00071579.4SELE, SELP, ITGAL
9platelet activationGO:00301689.1SELP, RASGRP2, RAP1A, RASGRP1
10regulation of immune responseGO:00507769.1SELL, ITGB2, ITGAL
11inflammatory responseGO:00069548.8IL1B, ITGAL, ITGB2, SELP, SELE
12extracellular matrix organizationGO:00301988.6ITGAM, ITGAL, ITGAX, ITGB2
13integrin-mediated signaling pathwayGO:00072298.5FUT8, ITGB2, ITGAX, ITGAL, ITGAM
14leukocyte cell-cell adhesionGO:00071598.3ITGAM, SELE, SELP, FERMT3, TSTA3, ITGB2
15cell adhesionGO:00071558.1SELL, SELP, ITGB2, ITGAX, ITGAL, ITGAM
16leukocyte migrationGO:00509007.9SELL, SELE, SELP, ITGB2, ITGAX, ITGAL
17blood coagulationGO:00075966.7SELL, SELE, SELP, ITGB2, ITGAX, ITGAL

Molecular functions related to Leukocyte Adhesion Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1oligosaccharide bindingGO:007049210.0SELP, SELE
2glycosphingolipid bindingGO:00432089.7SELL, SELP
3glycoprotein bindingGO:00019489.7ITGAM, ITGB2, SELP
4sialic acid bindingGO:00336919.7SELP, SELE
5heparin bindingGO:00082019.5ITGAM, SELP, SELL

Products for genes affiliated with Leukocyte Adhesion Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Leukocyte Adhesion Deficiency

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet