LAD
MCID: LKC001
MIFTS: 68

Leukocyte Adhesion Deficiency (LAD) malady

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

Summaries for Leukocyte Adhesion Deficiency

About this section
Sources:
22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
Genetics Home Reference:22 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.

MalaCards: Leukocyte Adhesion Deficiency, also known as leukocyte-adhesion deficiency syndrome, is related to psoriasis and vasculitis, and has symptoms including flat face, low hair line (back) and large fontanelle/delayed fontanelle closure. 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 Amoebiasis. The compounds gdp fucose and tyrosine sulfate have been mentioned in the context of this disorder. Affiliated tissues include monocytes, bone and bone marrow, and related mouse phenotypes are integument and respiratory system.

Wikipedia:66 Leukocyte adhesion deficiency (LAD), is a rare autosomal recessive disorder characterized by... more...

Description from OMIM:48 266265,116920,612840

Aliases & Classifications for Leukocyte Adhesion Deficiency

About this section
Sources:
9Disease Ontology, 10diseasecard, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 41NCIt, 59SNOMED-CT, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
leukocyte adhesion deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: Before age 5
leukocyte adhesion deficiency type i:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood; Age of death: Before age 5


Aliases & Descriptions:

leukocyte adhesion deficiency 9 10 48 11 50
leukocyte-adhesion deficiency syndrome 9 11 63
congenital leukocyte adherence deficiency 9 63
leukocyte adhesion deficiency syndrome 46
leukocyte adhesion deficiency type i 50
leukocyte adhesion deficiency type 1 63
lad-i 50
lad 50


External Ids:

Disease Ontology9 DOID:6612, DOID:611
NCIt41 C27874
MeSH36 D018370
SNOMED-CT59 77358003
MESH via Orphanet37 D018370, C535887
ICD10 via Orphanet27 D84.8
SNOMED-CT via Orphanet60 77358003, 234582006
UMLS via Orphanet64 C0242597, C0398738

Related Diseases for Leukocyte Adhesion Deficiency

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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
1psoriasis30.1SELE, SELP, ITGB2, ITGAL, IL1B
2vasculitis30.1SELL, SELP, ITGB2, ITGAX, SELE, ITGAM
3sepsis30.0SELL, ITGB2, IL1B, ITGAM, ITGAL, SELE
4leukocyte adhesion deficiency type 110.8
5leukocyte adhesion deficiency, type iii10.5
6hematopoietic stem cell transplantation10.5
7periodontitis10.5
8congenital disorder of glycosylation type 2c10.4
9pyoderma gangrenosum10.4
10congenital disorder of glycosylation10.4
11pyoderma10.4
12chronic granulomatous disease10.3
13endotheliitis10.3
14pustulosis palmaris et plantaris10.1SELE
15crohn's disease10.1
16factor xi deficiency10.1
17focal epithelial hyperplasia10.1
18ecthyma10.1
19leukemoid reaction10.1
20severe congenital neutropenia10.1
21amyloidosis10.1
22dermatitis10.1
23mastitis10.1
24neutropenia10.1
25osteomyelitis10.1
26otitis media10.1
27leucocyte adhesion defect10.1
28peripheral vascular disease10.1SELP, SELE
29plummer's disease10.1SELL, SELE
30synovitis10.0ITGB2, IL1B, SELE
31thrombotic thrombocytopenic purpura, acquired10.0SELE, SELP
32tropical spastic paraparesis10.0ITGB2, ITGAL
33lichen planus10.0ITGAM, ITGB2, ITGAL
34venous thrombosis10.0ITGB2, SELP, ITGAM
35peritonitis10.0SELP, IL1B, ITGB2
36cerebral malaria10.0SELP, IL1B, SELE
37adult respiratory distress syndrome10.0SELP, IL1B, SELE
38cutaneous t cell lymphoma10.0ITGAL, SELE, SELL
39glomerulonephritis10.0ITGAL, IL1B, ITGB2
40sickle cell disease10.0SELL, SELE, SELP
41iga glomerulonephritis10.0ITGAL, SELE, SELL
42hypercholesterolemia10.0SELP, ITGAM, SELE
43systemic scleroderma10.0SELL, ITGB2, SELE
44congenital heart disease10.0SELE, IL1B, SELP
45b-cell chronic lymphocytic leukemia10.0ITGB2, ITGAL, SELL
46myeloid leukemia10.0ITGAM, ITGB2, RAP1A, ITGAL
47graves' disease10.0ITGAL, ITGB2, SELE, SELL
48systemic lupus erythematosus10.0ITGB2, ITGAL, SELE, ITGAM
49skin disease10.0ITGAL, ITGB2, SELE, SELL
50ischemia10.0SELE, ITGAL, SELP, ITGB2

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



Diseases related to leukocyte adhesion deficiency

Symptoms for Leukocyte Adhesion Deficiency

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

116920

Clinical features from OMIM:

266265,116920,612840

Symptoms:

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

Drugs & Therapeutics for Leukocyte Adhesion Deficiency

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Leukocyte Adhesion Deficiency

Drug clinical trials:

Search ClinicalTrials for Leukocyte Adhesion Deficiency

Search NIH Clinical Center for Leukocyte Adhesion Deficiency

Search CenterWatch for Leukocyte Adhesion Deficiency

Genetic Tests for Leukocyte Adhesion Deficiency

About this section

Anatomical Context for Leukocyte Adhesion Deficiency

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Leukocyte Adhesion Deficiency:

34
Monocytes, Bone, Bone marrow, Tongue, Testes, Endothelial, Skin, Whole blood, Myeloid, Nk cells

Animal Models for Leukocyte Adhesion Deficiency or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Leukocyte Adhesion Deficiency:

38
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:00107687.2FUT8, 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

About this section
Sources:
53PubMed
See all sources

Articles related to Leukocyte Adhesion Deficiency:

(show top 50)    (show all 227)
idTitleAuthorsYear
1
Kindlin-3-independent adhesion of neutrophils from patients with leukocyte adhesion deficiency type III. (24342549)
2013
2
Leukocyte adhesion deficiency type I in a mixed-breed dog. (23417082)
2013
3
Hematologically important mutations: leukocyte adhesion deficiency (first update). (22134107)
2012
4
Identification of a null allele in genetic tests for bovine leukocyte adhesion deficiency in Pakistani Bos indicus A9 Bos taurus cattle. (22374219)
2012
5
Gene therapy of canine leukocyte adhesion deficiency using lentiviral vectors with human CD11b and CD18 promoters driving canine CD18 expression. (20859258)
2011
6
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
7
Leukocyte adhesion deficiency type 1 presenting with recurrent pyoderma gangrenosum and flaccid scarring. (20807363)
2010
8
Leukocyte adhesion deficiency: report of two family related newborn infants. (21279944)
2010
9
The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1. (18709451)
2009
10
ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency. (19864007)
2009
11
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
12
Genetics, biology and clinical management of myeloid cell primary immune deficiencies: chronic granulomatous disease and leukocyte adhesion deficiency. (17133097)
2007
13
Mice lacking the signaling molecule CalDAG-GEFI represent a model for leukocyte adhesion deficiency type III. (17492052)
2007
14
Leukocyte adhesion deficiency in a female patient without delayed umbilical cord separation. (17489834)
2007
15
Golgi GDP-fucose transporter-deficient mice mimic congenital disorder of glycosylation IIc/leukocyte adhesion deficiency II. (17276979)
2007
16
Low incidence of bovine leukocyte adhesion deficiency (BLAD) carriers in Indian cattle and buffalo breeds. (17495349)
2007
17
Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1. (17244687)
2007
18
Leukocyte adhesion deficiency type 1 presenting as leukemoid reaction. (18174651)
2007
19
Successful allogeneic stem cell transplant for leukocyte adhesion deficiency using an adjusted busulfan-containing regimen. (17493230)
2007
20
Preimplantation genetic diagnosis of leukocyte adhesion deficiency type I. (16595236)
2006
21
Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter. (16455955)
2006
22
Reproductive capability in dogs with canine leukocyte adhesion deficiency treated with nonmyeloablative conditioning prior to allogeneic hematopoietic stem cell transplantation. (16645166)
2006
23
Core fucosylation of N-linked glycans in leukocyte adhesion deficiency/congenital disorder of glycosylation IIc fibroblasts. (15917429)
2005
24
Nonmyeloablative conditioning with busulfan before matched littermate bone marrow transplantation results in reversal of the disease phenotype in canine leukocyte adhesion deficiency. (16182176)
2005
25
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
26
Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation. (12116250)
2002
27
Cytokine profile of a Holstein calf with bovine leukocyte adhesion deficiency during the acute-phase inflammatory response. (12520109)
2002
28
The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. (11326279)
2001
29
Bilateral acute coalescent mastoiditis in an immunocompromised infant with a rare leukocyte adhesion deficiency. (10352452)
1999
30
Correction of leukocyte adhesion deficiency type II with oral fucose. (10590041)
1999
31
Leukocyte adhesion deficiency disorder in an infant. (12783642)
1999
32
A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1. (9884339)
1999
33
Defective intracellular activity of GDP-D-mannose-4,6-dehydratase in leukocyte adhesion deficiency type II syndrome. (9662431)
1998
34
Leukocyte emigration in normal calves and calves with leukocyte adhesion deficiency. (9450245)
1997
35
Prevalence and allele frequency estimation of bovine leukocyte adhesion deficiency (BLAD) in Holstein-Friesian cattle in Japan. (9152929)
1997
36
Relationship of bovine leukocyte adhesion deficiency with genetic merit for performance traits. (8792288)
1996
37
Molecular characterization of leukocyte adhesion deficiency in six patients. (7705401)
1995
38
Detection of bovine leukocyte adhesion deficiency by nonisotopic ligase chain reaction. (7912052)
1994
39
Leukocyte adhesion deficiency: recurrent childhood skin infections. (8034795)
1994
40
Aberrant capping of membrane proteins on neutrophils from patients with leukocyte adhesion deficiency. (8123856)
1994
41
Chromosome and sperm size of Holsteins with and without bovine leukocyte adhesion deficiency. (8046065)
1994
42
Spin-trapping and chemiluminescence studies of neutrophils from a Holstein-Friesian calf with bovine leukocyte adhesion deficiency. (8396554)
1993
43
Ventral dermatitis and vasculitis in a calf with bovine leukocyte adhesion deficiency. (8440633)
1993
44
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
45
A point mutation associated with leukocyte adhesion deficiency type 1 of moderate severity. (7686755)
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

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

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

65 (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:

1 (show all 11)
id Gene Name 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.843delC (p.Asn282Thrfs)deletionPathogenicrs483352815GRCh37Chr 21, 46320289: 46320289
8ITGB2NM_000211.3(ITGB2): c.897+1G> Asingle nucleotide variantPathogenicrs201752283GRCh37Chr 21, 46320234: 46320234
9ITGB2NM_000211.3(ITGB2): c.897+1G> Tsingle nucleotide variantPathogenicrs201752283GRCh37Chr 21, 46320234: 46320234
10ITGB2NM_000211.3(ITGB2): c.382G> T (p.Asp128Tyr)single nucleotide variantPathogenicrs137852615GRCh37Chr 21, 46323397: 46323397
11ITGB2NM_000211.3(ITGB2): c.715G> A (p.Ala239Thr)single nucleotide variantPathogenicrs179363873GRCh37Chr 21, 46321433: 46321433

Expression for genes affiliated with Leukocyte Adhesion Deficiency

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Leukocyte Adhesion Deficiency

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

Pathways for genes affiliated with Leukocyte Adhesion Deficiency

About this section
Sources:
51PathCards, 39NCBI BioSystems Database, 31KEGG, 54QIAGEN, 61Thomson Reuters, 56Reactome, 58SinoBiological
See all sources

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

(show all 43)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7ITGB2, SELP, ITGAM
29.6IL1B, ITGB2, ITGAM
39.6ITGAM, ITGB2, IL1B
49.6IL1B, ITGAM, ITGB2
59.6IL1B, ITGAM, ITGB2
6
Show member pathways
Immune response Alternative complement pathway61
Immune response Lectin Induced complement pathway61
Immune response Classic complement pathway61
9.3ITGB2, ITGAM, ITGAX
7
Show member pathways
G protein signaling M RAS regulation pathway61
9.3RASGRP2, RASGRP1, RAP1A
8
Show member pathways
TCR signaling in naive CD8+ T cells39
9.3RASGRP2, RASGRP1, RAP1A
99.3RAP1A, RASGRP2, RASGRP1
10
Show member pathways
9.3RAP1A, RASGRP2, RASGRP1
119.1ITGAM, ITGAL, ITGB2
129.1ITGAL, ITGB2, SELL
139.1IL1B, ITGB2, ITGAL
149.0ITGAX, ITGAM, IL1B, ITGB2
15
Show member pathways
MAPK signaling pathway39
8.9RASGRP2, RAP1A, RASGRP1, IL1B
168.8ITGB2, SELP, ITGAM, ITGAL
17
Show member pathways
Development EDNRB signaling61
Development ACM2 and ACM4 activation of ERK61
Cell adhesion Integrin inside out signaling61
Development G Proteins mediated regulation MARK ERK signaling61
Signal transduction IP3 signaling61
Development Angiotensin signaling via PYK261
Development EPO induced MAPK pathway61
8.8RAP1A, RASGRP2, ITGAL, ITGB2
188.7ITGAM, ITGAX, ITGAL
198.7RAP1A, ITGB2, ITGAL, ITGAM
208.6ITGAL, SELE, ITGB2, SELP, IL1B
21
Show member pathways
8.5ITGB2, ITGAX, ITGAM, ITGAL
22
Show member pathways
8.5ITGB2, ITGAL, ITGAM, ITGAX
23
Show member pathways
8.5ITGAX, ITGAL, ITGAM, ITGB2
24
Show member pathways
8.5ITGB2, ITGAX, ITGAL, ITGAM
25
Show member pathways
8.5ITGAL, ITGB2, ITGAX, ITGAM
268.5ITGAM, ITGB2, ITGAX, ITGAL
27
Show member pathways
8.5ITGAM, ITGB2, ITGAX, ITGAL
288.5ITGAM, ITGAX, ITGB2, ITGAL
29
Show member pathways
8.5ITGAM, ITGB2, ITGAX, ITGAL
308.5ITGB2, ITGAM, ITGAL, ITGAX
318.3ITGAM, ITGAL, SELP, SELL, SELE, ITGB2
32
Show member pathways
8.1IL1B, ITGAL, ITGAX, ITGB2, ITGAM
33
Show member pathways
8.1IL1B, ITGAL, ITGB2, ITGAX, ITGAM
34
Show member pathways
8.1ITGB2, ITGAM, RAP1A, ITGAX, ITGAL
35
Show member pathways
8.1RAP1A, ITGAL, ITGAM, ITGB2, ITGAX
36
Show member pathways
Integrin-mediated cell adhesion39
Focal Adhesion39
8.1ITGAM, ITGAL, RAP1A, ITGB2, ITGAX
37
Show member pathways
8.1ITGAL, ITGAX, ITGB2, ITGAM, RAP1A
38
Show member pathways
7.9RASGRP2, RAP1A, ITGAM, ITGAL, RASGRP1, ITGB2
39
Show member pathways
7.9SELL, ITGB2, RASGRP2, ITGAL, RAP1A, RASGRP1
40
Show member pathways
7.6ITGAM, SELL, SELE, SELP, ITGB2, ITGAX
41
Show member pathways
6.9RASGRP1, RAP1A, RASGRP2, IL1B, ITGAM, ITGAL
42
Show member pathways
6.9RASGRP2, IL1B, ITGAM, ITGAL, RASGRP1, ITGAX
43
Show member pathways
6.4ITGAL, RAP1A, RASGRP1, RASGRP2, ITGAM, ITGAX

Compounds for genes affiliated with Leukocyte Adhesion Deficiency

About this section
Sources:
46Novoseek, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 25HMDB, 3BitterDB, 52PharmGKB
See all sources

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

(show top 50)    (show all 106)
idCompoundScoreTop Affiliating Genes
1gdp fucose4610.0GMDS, SELE, FUT8
2tyrosine sulfate469.9SELL, SELE, SELP
3sele469.9SELL, SELP, SELE
4polylactosamine469.9SELP, SELE, SELL
55-oxoete469.8ITGAM, CYSLTR2, SELL
6hydroxyethyl starch469.7ITGAM, SELP, SELE, SELL
7ptca469.7ITGB2, ITGAM, SELP
8piroxicam46 1210.6ITGB2, ITGAM, IL1B
9polyacrylonitrile469.5ITGB2, ITGAM, ITGAL
10dmso469.4SELE, ITGB2, SELL, ITGAM, SELP
11polysulfone469.4ITGAM, IL1B, ITGB2, SELP, SELL
12pentoxifylline46 1210.3SELL, ITGB2, ITGAM, SELP, IL1B
13rolipram46 62 3011.3SELL, SELE, ITGB2, ITGAM, RAP1A
14epinephrine46 25 1211.3SELE, SELL, ITGAM, SELP, CYSLTR2
15slea469.2ITGAL, SELP, SELE, SELL
16prostacyclin469.2SELE, IL1B, RAP1A, SELP, CYSLTR2
17sulfatide469.2ITGAL, SELP, SELE, SELL
18sb 20358046 6210.1IL1B, ITGAM, ITGB2, SELE, SELL
19genistein46 30 62 3 25 1214.0IL1B, ITGAM, ITGB2, SELP, SELE, SELL
20atorvastatin46 52 30 25 1213.0SELL, SELE, ITGAM, SELP
21theophylline46 30 25 1212.0SELP, ITGAL, ITGAM, SELL
22ly294002469.0ITGAM, RAP1A, IL1B, SELP, SELE, ITGB2
23adenylate468.9SELE, CYSLTR2, ITGB2, RAP1A, SELP, ITGAM
24pravastatin46 52 30 25 1212.9IL1B, ITGAL, SELP, SELE
25histamine46 30 2510.9ITGB2, SELP, IL1B, ITGAM, SELE, SELL
26polysaccharide468.8FUT8, SELL, SELE, SELP, TSTA3, ITGB2
27indomethacin46 30 62 1211.8SELL, ITGAX, ITGAM, IL1B, ITGB2
28slex468.7SELP, ITGAL, ITGB2, SELE, SELL, ITGAM
29prednisolone46 30 1210.7ITGAL, ITGAM, SELL, ITGB2
30simvastatin46 52 62 30 25 1213.7ITGAM, ITGB2, SELP, SELE, SELL, ITGAL
31cytochalasin d46 629.6ITGAL, SELL, SELE, ITGAX, ITGB2
32phorbol-12-myristate468.6ITGAM, ITGAL, ITGB2, ITGAX, SELL
33endotoxin468.6IL1B, ITGAM, ITGAL, ITGB2, SELE, SELL
34cuprophan468.6ITGAM, ITGB2, SELP, ITGAL, SELL, IL1B
35isoproterenol46 129.5RAP1A, ITGAM, SELE, ITGB2, SELL, ITGAL
36vegf468.4CYSLTR2, SELL, SELE, SELP, IL1B, ITGB2
37fibrinogen468.4ITGAL, ITGAM, ITGAX, ITGB2, SELP, SELE
38rantes468.3IL1B, SELL, SELE, ITGB2, SELP, ITGAM
39n-formylmethionyl-leucylphenylalanine468.3ITGB2, ITGAM, ITGAX, ITGAL, SELP, SELL
40aspirin46 52 30 2511.3SELL, ITGAM, ITGAL, IL1B, SELE, SELP
41phorbol468.1ITGB2, ITGAL, RAP1A, SELL, ITGAM, ITGAX
42cycloheximide467.9SELE, ITGAM, IL1B, ITGAL, ITGAX, SELL
43pge2467.8SELE, SELL, ITGAM, RAP1A, IL1B, CYSLTR2
44heparin46 30 25 1210.8SELE, SELP, SELL, CYSLTR2, ITGAX, ITGAM
45superoxide46 258.7ITGAX, SELL, ITGAL, ITGB2, RAP1A, IL1B
46leukotriene b446 62 259.7ITGB2, ITGAL, IL1B, ITGAM, CYSLTR2, ITGAX
47oxygen46 258.6RAP1A, ITGAL, CYSLTR2, SELL, ITGB2, ITGAX
48retinoic acid46 258.6SELP, ITGB2, ITGAX, ITGAL, ITGAM, IL1B
49nitric oxide46 25 129.3ITGAX, CYSLTR2, SELE, SELP, ITGB2, RAP1A
50fmlp467.2ITGB2, IL1B, RAP1A, ITGAM, ITGAL, SELP

GO Terms for genes affiliated with Leukocyte Adhesion Deficiency

About this section
Sources:
17Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1integrin complexGO:0083058.5ITGAX, ITGB2, ITGAL, ITGAM
2external side of plasma membraneGO:0098977.8SELL, SELP, ITGAX, ITGAL, ITGAM
3extracellular vesicular exosomeGO:0700627.3FERMT3, TSTA3, GMDS, ITGB2, ITGAL, RAP1A
4plasma membraneGO:0058865.6SLAMF6, CYSLTR2, SELL, SELE, SELP, ITGB2

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:04235110.0TSTA3, GMDS
2GDP-mannose metabolic processGO:01967310.0GMDS, TSTA3
3leukocyte tethering or rollingGO:0509019.9SELE, SELP
4neutrophil chemotaxisGO:0305939.8ITGB2, IL1B, ITGAM
5response to ATPGO:0331989.8IL1B, SELL
6positive regulation of leukocyte migrationGO:0026879.7SELE, SELP
7activated T cell proliferationGO:0507989.4ITGAL, ITGAM
8heterophilic cell-cell adhesionGO:0071579.4ITGAL, SELP, SELE
9platelet activationGO:0301689.1RASGRP1, RAP1A, SELP, RASGRP2
10regulation of immune responseGO:0507769.1SELL, ITGAL, ITGB2
11inflammatory responseGO:0069548.8IL1B, SELE, SELP, ITGB2, ITGAL
12extracellular matrix organizationGO:0301988.6ITGB2, ITGAM, ITGAL, ITGAX
13integrin-mediated signaling pathwayGO:0072298.5ITGAM, ITGAL, ITGAX, FUT8, ITGB2
14leukocyte cell-cell adhesionGO:0071598.3ITGAM, ITGAL, ITGB2, TSTA3, FERMT3, SELP
15cell adhesionGO:0071558.1ITGAL, ITGAM, SELL, SELP, ITGB2, ITGAX
16leukocyte migrationGO:0509007.9SELL, SELE, SELP, ITGB2, ITGAX, ITGAL
17blood coagulationGO:0075966.8ITGB2, RASGRP1, RASGRP2, ITGAM, ITGAL, ITGAX

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

idNameGO IDScoreTop Affiliating Genes
1oligosaccharide bindingGO:07049210.0SELP, SELE
2glycosphingolipid bindingGO:0432089.7SELL, SELP
3glycoprotein bindingGO:0019489.7ITGAM, ITGB2, SELP
4sialic acid bindingGO:0336919.7SELP, SELE
5heparin bindingGO:0082019.5ITGAM, SELP, SELL

Products for genes affiliated with Leukocyte Adhesion Deficiency

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leukocyte Adhesion Deficiency

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet