LAD
MCID: LKC001
MIFTS: 60

Leukocyte Adhesion Deficiency (LAD) malady

Blood category

Summaries for Leukocyte Adhesion Deficiency

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Leukocyte adhesion deficiency (LAD), is a rare autosomal recessive disorder characterized by... more...

MalaCards: Leukocyte Adhesion Deficiency, also known as leukocyte-adhesion deficiency syndrome, is related to vasculitis and sepsis, and has symptoms including hypertelorism, low set ears/posteriorly rotated ears and autosomal recessive inheritance. 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 Classical antibody-mediated complement activation and amb2 Integrin signaling. The compounds tyrosine sulfate and sele have been mentioned in the context of this disorder. Affiliated tissues include skin, bone marrow and whole blood, and related mouse phenotypes are integument and respiratory system.

Description from OMIM:47 266265,116920,612840

Aliases & Classifications for Leukocyte Adhesion Deficiency

Sources:
8Disease Ontology, 9diseasecard, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 45Novoseek, 40NCIt, 57SNOMED-CT, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood


Characteristics (Orphanet epidemiological data):

49
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 8 9 47 10 49
leukocyte-adhesion deficiency syndrome 8 10 61
congenital leukocyte adherence deficiency 8 61
leukocyte adhesion deficiency syndrome 45
leukocyte adhesion deficiency type 1 61
leukocyte adhesion deficiency type i 49
lad-i 49
lad 49


External Ids:

Disease Ontology8 DOID:6612, DOID:611
NCIt40 C27874
MeSH35 D018370
SNOMED-CT57 77358003
MESH via Orphanet36 D018370, C535887
ICD10 via Orphanet26 D84.8
SNOMED-CT via Orphanet58 77358003, 234582006
UMLS via Orphanet62 C0242597, C0398738

Related Diseases for Leukocyte Adhesion Deficiency

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 119)
idRelated DiseaseScoreTop Affiliating Genes
1vasculitis35.1ITGAM, ITGB2, ITGAX, SELL, SELE, SELP
2sepsis35.1ITGAM, ITGB2, ITGAL, IL1B, SELL, SELE
3non-hodgkin lymphoma13.3SELL, ITGAX, ITGAL, ITGAM
4iga glomerulonephritis13.3ITGAL, SELL, SELE
5atopic dermatitis13.3ITGAM, SELL, SELE, SELP
6plummer's disease13.3SELL, SELE
7pulmonary sarcoidosis13.3ITGAM, ITGAL, SELL
8newborn respiratory distress syndrome13.3ITGAM, ITGB2, IL1B, SELL
9cadasil13.3ITGB2, ITGAL, SELL, SELP
10allergic asthma13.3ITGAM, ITGB2, ITGAL, CYSLTR2, SELL, SELE
11ulcerative colitis13.3ITGB2, ITGAX, IL1B, SELL, SELE, SELP
12kawasaki disease13.3SELE, SELL
13graves' disease13.3ITGB2, ITGAL, SELL, SELE
14acute leukemia13.3SELL, ITGAX, ITGB2, ITGAM
15acute lymphocytic leukemia13.3SELL, ITGAL, ITGB2, ITGAM
16adenocarcinoma13.3SELL, ITGB2
17asthma13.3ITGAM, ITGB2, ITGAL, CYSLTR2, IL1B, SELL
18atherosclerosis13.3ITGAM, ITGAL, CYSLTR2, IL1B, SELL, SELE
19cutaneous t cell lymphoma13.3ITGAL, SELL, SELE
20diabetes mellitus13.3ITGAM, ITGB2, IL1B, SELL, SELE, SELP
21diabetic retinopathy13.3SELL
22hepatitis13.3SELL
23leukemia13.3ITGAM, ITGB2, ITGAL, ITGAX, IL1B, RAP1A
24myeloma13.3ITGAM, ITGB2, ITGAL, IL1B, SELL
25myocardial infarction13.3ITGAM, ITGAL, CYSLTR2, SELL, SELP
26obesity13.3CYSLTR2, SELL, SELE
27pre-eclampsia13.3ITGAM, ITGB2, ITGAX, SELL, SELE, SELP
28rheumatoid arthritis13.3ITGAM, ITGB2, ITGAL, IL1B, RAP1A, SELL
29skin disease13.3SELE, SELL, ITGAL, ITGB2
30systemic scleroderma13.3SELE, SELL, ITGB2
31tuberculosis13.3ITGAM, ITGB2, ITGAL, IL1B, SELL
32vascular disease13.3ITGAM, IL1B, SELL, SELP
33sickle cell disease13.3SELP, SELE, SELL
34bronchopulmonary dysplasia13.3SELL, ITGAM
35septic shock13.3ITGAM, IL1B, SELL, SELE
36insulin resistance13.3SELE, SELL
37b-cell chronic lymphocytic leukemia13.3SELL, ITGAL, ITGB2
38t cell deficiency10.8
39leukocyte adhesion deficiency type 110.5
40b cell deficiency10.5
41hematopoietic stem cell transplantation10.5
42t lymphocyte deficiency10.4
43congenital disorder of glycosylation type 2c10.4
44leukocyte adhesion deficiency, type iii10.4
45pyoderma gangrenosum10.4
46cytokine deficiency10.4
47chronic granulomatous disease10.3
48factor v deficiency10.3
49n syndrome10.3
50char syndrome10.3

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



Diseases related to leukocyte adhesion deficiency

Clinical Features for Leukocyte Adhesion Deficiency

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

266265,116920,612840

Clinical synopsis from OMIM:

116920

Symptoms:

49 (show all 27)
  • hypertelorism
  • 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
  • dolichocephaly/scaphocephaly
  • broad nasal root
  • anomalies of ear and hearing
  • 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

Drugs & Therapeutics for Leukocyte Adhesion Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Anatomical Context for Leukocyte Adhesion Deficiency

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Leukocyte Adhesion Deficiency:

33
Skin, Bone marrow, Whole blood, Myeloid, Monocytes, Nk cells, T cells, Endothelial

Animal Models for Leukocyte Adhesion Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Leukocyte Adhesion Deficiency

Sources:
51PubMed
See all sources

Articles related to Leukocyte Adhesion Deficiency:

(show top 50)    (show all 233)
idTitleAuthorsYear
1
Remission of Crohn's disease after cord blood transplantation for leukocyte adhesion deficiency type 1. (23334270)
2013
2
Lessons from rare maladies: leukocyte adhesion deficiency syndromes. (23207660)
2013
3
Loss of kindlin-3 alters the threshold for NK cell activation in human leukocyte adhesion deficiency-III. (22983444)
2012
4
Leukocyte adhesion deficiency-I variant syndrome (LAD-Iv, LAD-III): molecular characterization of the defect in an index family. (22139635)
2012
5
Pyoderma gangrenosum-like lesions in leukocyte adhesion deficiency I treated with intravenous immunoglobulin. (21366684)
2011
6
A novel 3' splice-site mutation and a novel gross deletion in leukocyte adhesion deficiency (LAD)-1. (21195692)
2011
7
Delayed wound healing in leukocyte adhesion deficiency type 1. (20843524)
2011
8
Osteomyelitis in leukocyte adhesion deficiency type 1 syndrome. (20351460)
2010
9
The effect of gentamicin-induced readthrough on a novel premature termination codon of CD18 leukocyte adhesion deficiency patients. (21103413)
2010
10
Neutrophil function and molecular analysis in severe leukocyte adhesion deficiency type I without separation delay of the umbilical cord. (17651379)
2008
11
Genetics, biology and clinical management of myeloid cell primary immune deficiencies: chronic granulomatous disease and leukocyte adhesion deficiency. (17133097)
2007
12
Mice lacking the signaling molecule CalDAG-GEFI represent a model for leukocyte adhesion deficiency type III. (17492052)
2007
13
Low incidence of bovine leukocyte adhesion deficiency (BLAD) carriers in Indian cattle and buffalo breeds. (17495349)
2007
14
Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1. (17244687)
2007
15
Leukocyte adhesion deficiency type 1 presenting as leukemoid reaction. (18174651)
2007
16
Functional characterization of natural killer cells in type I leukocyte adhesion deficiency. (17272509)
2007
17
Adiponectin deficiency increases leukocyte-endothelium interactions via upregulation of endothelial cell adhesion molecules in vivo. (17549259)
2007
18
Matched unrelated bone marrow transplantation with reduced-intensity conditioning for leukocyte adhesion deficiency. (16489359)
2006
19
Bone marrow transplantation for leukocyte adhesion deficiency-I: case report. (17186693)
2006
20
Core fucosylation of N-linked glycans in leukocyte adhesion deficiency/congenital disorder of glycosylation IIc fibroblasts. (15917429)
2005
21
Nonmyeloablative hematopoietic stem cell transplantation corrects the disease phenotype in the canine model of leukocyte adhesion deficiency. (15911095)
2005
22
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
23
Canine leukocyte adhesion deficiency colony for investigation of novel hematopoietic therapies. (12842608)
2003
24
Analysis of serum cytokine profile in a holstein heifer with leukocyte adhesion deficiency which survived for long period. (12237512)
2002
25
Two Novel Frame Shift, Recurrent and De Novo Mutations in the ITGB2 (CD18) Gene Causing Leukocyte Adhesion Deficiency in a Highly Inbred North African Population. (12488604)
2001
26
Successful human leukocyte antigen one antigen-mismatched related bone marrow transplantation in a 6-year-old boy with leukocyte adhesion deficiency syndrome. (11380931)
2001
27
Systemic kappaAL amyloidosis associated with bovine leukocyte adhesion deficiency. (10643989)
2000
28
Gene therapy for leukocyte adhesion deficiency. (11249768)
2000
29
Correction of leukocyte adhesion deficiency type II with oral fucose. (10590041)
1999
30
Leukocyte adhesion deficiency disorder in an infant. (12783642)
1999
31
Leukocyte adhesion deficiency type II. (10571012)
1999
32
Survival of transfused CD18-positive granulocytes and their chemiluminescent response in a heifer with leukocyte adhesion deficiency. (9524955)
1998
33
Prevalence and allele frequency estimation of bovine leukocyte adhesion deficiency (BLAD) in Holstein-Friesian cattle in Japan. (9152929)
1997
34
Enhancement of PCR-RFLP typing of bovine leukocyte adhesion deficiency. (9298201)
1997
35
Relationship of bovine leukocyte adhesion deficiency with genetic merit for performance traits. (8792288)
1996
36
Fever, leukocytosis and skin ulcerations in a four-month-old male. Leukocyte adhesion deficiency (LAD). (8878236)
1996
37
Enhanced expression of Fc receptors on neutrophils from calves with leukocyte adhesion deficiency. (8577284)
1995
38
Complement component C3b and immunoglobulin Fc receptors on neutrophils from calves with leukocyte adhesion deficiency. (7785817)
1995
39
Aberrant capping of membrane proteins on neutrophils from patients with leukocyte adhesion deficiency. (8123856)
1994
40
Serum biochemical changes and chemiluminescent responses of whole blood in Holstein cattle with leukocyte adhesion deficiency. (7999886)
1994
41
Post-mortem findings in calves suffering from bovine leukocyte adhesion deficiency (BLAD). (7912019)
1994
42
In vivo neutrophil and lymphocyte function studies in a patient with leukocyte adhesion deficiency type II. (8068953)
1994
43
The detection of a mutation of CD18 gene in bovine leukocyte adhesion deficiency (BLAD). (8096402)
1993
44
In vivo behavior of neutrophils from two patients with distinct inherited leukocyte adhesion deficiency syndromes. (7685776)
1993
45
Bovine leukocyte adhesion deficiency in Danish Holstein-Friesian cattle. II. Patho-anatomical description of affected calves. (8310896)
1993
46
Leukocyte adhesion deficiency among Holstein cattle. (1623723)
1992
47
Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency. (1279426)
1992
48
Molecular basis for a severe case of leukocyte adhesion deficiency. (1352501)
1992
49
Prenatal diagnostic procedure for leukocyte adhesion deficiency. (1710068)
1991
50
Oral manifestations associated with leukocyte adhesion deficiency: a five-year case study. (2133935)
1990

Genetic Variations for Leukocyte Adhesion Deficiency

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Leukocyte Adhesion Deficiency:

63 (show all 15)
id Symbol AA change Variation 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

Expression for genes affiliated with Leukocyte Adhesion Deficiency

Sources:
1BioGPS, 15Gene 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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 52QIAGEN, 12EMD Millipore
See all sources

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

(show all 43)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.7RASGRP1, RASGRP2
29.7SELP, ITGB2, ITGAM
39.7ITGAL
49.6IL1B, ITGB2, ITGAM
59.6ITGAM, ITGB2, IL1B
69.6ITGAM, ITGB2, IL1B
79.6ITGAM, ITGB2, IL1B
89.5ITGAL, ITGB2
9
Immune response Lectin induced complement pathway
Hide members
9.4ITGAM, ITGB2, ITGAX
10
Hide members
9.3RASGRP1, RAP1A, RASGRP2
11
Hide members
9.3RASGRP2, RAP1A, RASGRP1
12
Hide members
9.3RASGRP1, RAP1A, RASGRP2
13
Hide members
9.3RASGRP1, RAP1A, RASGRP2
149.3RASGRP2, RAP1A, RASGRP1
159.1ITGAL, ITGB2, ITGAM
169.1ITGAM, ITGB2, ITGAX, IL1B
17
Hide members
8.9RASGRP2, RAP1A, RASGRP1, IL1B
188.8ITGAM, ITGB2, ITGAL, SELP
198.8ITGAX, ITGAL, ITGAM
20
Hide members
8.8ITGB2, ITGAL, RAP1A, RASGRP2
21
Hide members
8.8RASGRP1, RAP1A, RASGRP2, SELE, SELP
22
Hide members
8.7RAP1A, ITGAX, ITGAL
238.7RAP1A, ITGAL, ITGB2, ITGAM
248.6ITGAM, ITGB2, ITGAL, SELE, SELP
25
Hide members
8.6ITGAM, ITGB2, ITGAL, ITGAX
26
Hide members
8.6ITGAM, ITGB2, ITGAL, ITGAX
27
Hide members
8.6ITGAM, ITGB2, ITGAL, ITGAX
288.6ITGAM, ITGB2, ITGAL, ITGAX
29
Hide members
8.6ITGAX, ITGAL, ITGB2, ITGAM
30
Hide members
8.6ITGAX, ITGAL, ITGB2, ITGAM
31
Hide members
8.6ITGAX, ITGAL, ITGB2, ITGAM
328.6ITGAM, ITGB2, ITGAL, ITGAX
33
Hide members
8.6ITGAM, ITGB2, ITGAL, ITGAX
34
Hide members
8.3ITGAM, ITGB2, ITGAL, ITGAX, IL1B
35
Hide members
8.3ITGAM, ITGB2, ITGAL, ITGAX, IL1B
36
Hide members
8.2ITGAM, ITGB2, ITGAL, ITGAX, RAP1A
37
Hide members
8.2ITGAM, ITGB2, ITGAL, ITGAX, RAP1A
38
Hide members
8.2ITGAM, ITGB2, ITGAL, ITGAX, RAP1A
398.1SELP, ITGAM, ITGB2, ITGAL, ITGAX, SELE
40
Hide members
7.4ITGAM, ITGB2, ITGAL, ITGAX, RASGRP1, RAP1A
41
Hide members
7.1ITGAM, ITGB2, ITGAL, ITGAX, IL1B, RASGRP1
42
Hide members
7.1ITGAM, ITGB2, ITGAL, ITGAX, IL1B, RASGRP1
43
Hide members
6.8ITGAM, ITGB2, ITGAL, ITGAX, CYSLTR2, RASGRP1

Compounds for genes affiliated with Leukocyte Adhesion Deficiency

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 50PharmGKB, 24HMDB, 2BitterDB
See all sources

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

(show top 50)    (show all 96)
idCompoundScoreTop Affiliating Genes
1tyrosine sulfate4510.3SELP, SELE
2sele4510.2SELE, SELP
3polylactosamine4510.2SELP, SELE
45-oxoete4510.2CYSLTR2, ITGAM
5fucoidan4510.1SELE, SELP
6gdp fucose4510.1GMDS, SELE, FUT8
7hydroxyethyl starch4510.1ITGAM, SELE, SELP
8fc 774510.0SELP, SELE
9cycloheximide4510.0ITGAM, ITGAX
10piroxicam45 1110.8IL1B, ITGB2, ITGAM
11ptca459.8ITGAM, ITGB2, SELP
12polysulfone459.8SELP, IL1B, ITGB2, ITGAM
13dmso459.7SELP, SELE, ITGB2, ITGAM
14pentoxifylline45 1110.7ITGAM, ITGB2, IL1B, SELP
15rolipram45 60 2911.7ITGAM, ITGB2, RAP1A, SELE
16atorvastatin45 50 29 11 2413.6ITGAM, SELE, SELP
17epinephrine45 11 2411.6ITGAM, CYSLTR2, SELE, SELP
18sb 20358045 6010.6ITGAM, ITGB2, IL1B, SELE
19slea459.6ITGAL, SELE, SELP
20sulfatide459.5ITGAL, SELE, SELP
21polyacrylonitrile459.5ITGAM, ITGB2, ITGAL
22genistein45 29 60 2 11 2414.4ITGAM, ITGB2, IL1B, SELE, SELP
23theophylline45 29 11 2412.3ITGAM, ITGAL, SELP
24histamine45 29 2411.2ITGAM, ITGB2, CYSLTR2, IL1B, SELE, SELP
25rantes459.2ITGAM, ITGB2, ITGAL, IL1B
26prostacyclin459.2CYSLTR2, IL1B, RAP1A, SELE, SELP
27polysaccharide459.2ITGAM, ITGB2, SELE, SELP, TSTA3, FUT8
28cytochalasin d45 6010.1SELE, ITGAX, ITGAL, ITGB2
29slex459.1ITGAM, ITGB2, ITGAL, SELE, SELP
30phorbol-12-myristate459.0ITGAM, ITGB2, ITGAL, ITGAX
31prednisolone45 29 1111.0ITGAM, ITGB2, ITGAL
32simvastatin45 50 60 29 11 2414.0ITGAM, ITGB2, ITGAL, SELE, SELP
33ly294002459.0ITGAM, ITGB2, IL1B, RAP1A, SELE, SELP
34cuprophan458.9ITGAM, ITGB2, ITGAL, IL1B, SELP
35endotoxin458.9ITGAM, ITGB2, ITGAL, IL1B, SELE
36adenylate458.9ITGAM, ITGB2, CYSLTR2, RAP1A, SELE, SELP
37isoproterenol45 119.8ITGAM, ITGB2, ITGAL, RAP1A, SELE
38n-formylmethionyl-leucylphenylalanine458.8ITGAM, ITGB2, ITGAL, ITGAX, SELP
39heparin45 29 11 2411.8ITGAM, ITGB2, ITGAL, CYSLTR2, SELE, SELP
40vegf458.7ITGAM, ITGB2, CYSLTR2, IL1B, RAP1A, SELE
41aspirin45 50 29 2411.6ITGAM, ITGAL, CYSLTR2, IL1B, SELE, SELP
42phorbol458.6ITGAM, ITGB2, ITGAL, ITGAX, RAP1A
43fibrinogen458.4SELP, SELE, ITGAX, ITGAL, ITGB2, ITGAM
44superoxide45 249.2ITGAM, ITGB2, ITGAL, ITGAX, IL1B, RAP1A
45pge2458.2ITGAM, ITGAL, CYSLTR2, IL1B, RAP1A, SELE
46leukotriene b445 60 2410.2ITGAM, ITGB2, ITGAL, ITGAX, CYSLTR2, IL1B
47retinoic acid45 249.0ITGB2, ITGAL, ITGAX, IL1B, SELP, ITGAM
48fmlp457.7SELP, ITGAM, ITGB2, ITGAL, ITGAX, CYSLTR2
49oxygen45 248.6ITGAM, ITGB2, ITGAL, ITGAX, CYSLTR2, RAP1A
50nitric oxide45 11 249.4ITGAM, ITGB2, ITGAL, ITGAX, CYSLTR2, IL1B

GO Terms for genes affiliated with Leukocyte Adhesion Deficiency

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098978.5SELP, ITGAX, ITGAL, ITGAM
2integrin complexGO:0083058.5ITGAX, ITGAL, ITGB2, ITGAM
3plasma membraneGO:0058865.3CD53, ITGAX, ITGAL, ITGB2, ITGAM, CYSLTR2

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1response to ATPGO:03319810.1IL1B
2de novo GDP-L-fucose biosynthetic processGO:04235110.1GMDS, TSTA3
3GDP-mannose metabolic processGO:01967310.1TSTA3, GMDS
4positive regulation of leukocyte migrationGO:00268710.0SELP, SELE
5leukocyte tethering or rollingGO:0509019.9SELE, SELP
6neutrophil chemotaxisGO:0305939.8IL1B, ITGB2, ITGAM
7activated T cell proliferationGO:0507989.4ITGAL, ITGAM
8heterophilic cell-cell adhesionGO:0071579.4SELP, SELE, ITGAL
9regulation of immune responseGO:0507769.2ITGAL, ITGB2
10platelet activationGO:0301689.1RASGRP1, RAP1A, RASGRP2, SELP
11inflammatory responseGO:0069548.8ITGB2, ITGAL, IL1B, SELE, SELP
12cell adhesionGO:0071558.6SELP, ITGAX, ITGAL, ITGB2, ITGAM
13integrin-mediated signaling pathwayGO:0072298.6ITGAM, ITGB2, ITGAL, ITGAX, FUT8
14leukocyte migrationGO:0509008.4ITGAM, ITGB2, ITGAL, ITGAX, SELE, SELP
15leukocyte cell-cell adhesionGO:0071598.3TSTA3, FERMT3, ITGAM, ITGB2, ITGAL, SELE
16signal transductionGO:0071657.8ITGAL, CD53, IL1B, RASGRP1, RAP1A, RASGRP2
17blood coagulationGO:0075967.2ITGAM, ITGB2, ITGAL, ITGAX, RASGRP1, RAP1A

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

idNameGO IDScoreTop Affiliating Genes
1sialic acid bindingGO:03369110.0SELP, SELE
2glycosphingolipid bindingGO:0432089.9SELP
3oligosaccharide bindingGO:0704929.9SELP, SELE
4glycoprotein bindingGO:0019489.7SELP, ITGB2, ITGAM

Products for genes affiliated with Leukocyte Adhesion Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leukocyte Adhesion Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet