LAD3
MCID: LKC005
MIFTS: 54

Leukocyte Adhesion Deficiency, Type Iii (LAD3)

Categories: Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Leukocyte Adhesion Deficiency, Type Iii

MalaCards integrated aliases for Leukocyte Adhesion Deficiency, Type Iii:

Name: Leukocyte Adhesion Deficiency, Type Iii 57 29 13 6 40 73
Leukocyte Adhesion Deficiency Type 1 53 25 29 6 40 73
Leukocyte Adhesion Deficiency 3 57 12 75 15
Leukocyte Adhesion Deficiency 1 Variant 57 12 75
Integrin Activation Deficiency Disease 57 12 75
Lad1v 57 12 75
Lad3 57 12 75
Iadd 57 12 75
Lymphocyte Function-Associated Antigen 1 Immunodeficiency 12 53
Leukocyte Adhesion Deficiency Type Iii 12 59
Leukocyte Adhesion Deficiency Type I 12 53
Leukocyte Adhesion Deficiency 1 12 15
Lad1 12 25
Leukocyte Adhesion Deficiency 1 Variant; Lad1v 57
Leukocyte Adhesion Molecule Deficiency Type 1 25
Integrin Activation Deficiency Disease; Iadd 57
Leukocyte Adhesion Deficiency-1 Variant 59
Leucocyte Adhesion Deficiency Type 1 25
Lfa 1 Immunodeficiency 53
Lfa1 Immunodeficiency 12
Lad-1 Variant 59
Lad1 Variant 12
Lad-Iii 59
Lad 1 53
Lad-I 53
Lad 53

Characteristics:

Orphanet epidemiological data:

59
leukocyte adhesion deficiency type iii
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
delayed separation of umbilical cord
delayed wound healing
can be treated by bone marrow transplantation


HPO:

32
leukocyte adhesion deficiency, type iii:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Leukocyte Adhesion Deficiency, Type Iii

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 99842Disease definitionLeukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections.EpidemiologyLAD-I affects 1 individual per million.Clinical descriptionUsually the first signs occur in infancy or early childhood. Patients present recurrent, life-threatening bacterial infections of the skin, mouth, and respiratory tract. Delayed umbilical cord separation is common. Skin infections may evolve into large ulcers. Severe periodontitis is often present later in life and leads to early tooth loss. A lack of swelling, redness, heat, or pus is observed in the area of infection.EtiologyLAD-I is caused by mutations in the ITGB2 gene (21q22.3), encoding the beta-2-integrin, CD18, which is essential for firm adhesion of leukocytes to the endothelium. Severity of the disease correlates with the degree of CD18 deficiency.Diagnostic methodsDiagnosis is based on complete blood counts revealing neutrophilic leukocytosis. Flow cytometric analyses reveal reduced CD18 expression on leukocytes. Genetic analyses of mutations in the ITGB2 gene confirm the diagnosis.Differential diagnosisDifferential diagnoses include IRAK-4 deficiency, autosomal dominant hyper IgE syndrome, chronic granulomatous disease, other primary immunodeficiencies (see these terms) and a leukemoid reaction.Antenatal diagnosisAntenatal diagnosis is possible through biochemical or molecular analysis of chorionic villus cells or amniocytes in affected families for which the mutation has been identified. Flow cytometry can be performed at 20 weeks of gestation.Genetic counselingTransmission is autosomal recessive.Management and treatmentManagement should focus on controlling infections and includes antibiotics. Hematopoietic cell transplantation represents the only cure for LAD-I, but gene therapy may be available in the future.PrognosisPrognosis depends on the severity of the disease. Without hematopoietic stem cell transplantation, death in patients with severe LAD-I occurs from infection within the first 2 years of life, whereas patients with a moderate form of the disease have abetter chance of surviving into adulthood. Survival rate after bone marrow transplantation is 75%.Visit the Orphanet disease page for more resources.

MalaCards based summary : Leukocyte Adhesion Deficiency, Type Iii, also known as leukocyte adhesion deficiency type 1, is related to leukocyte adhesion deficiency, type i and thrombasthenia, and has symptoms including petechiae of skin An important gene associated with Leukocyte Adhesion Deficiency, Type Iii is FERMT3 (Fermitin Family Member 3), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways. Affiliated tissues include bone, skin and neutrophil, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 A leukocyte adhesion deficiency that has material basis in mutation of the KIND3 gene on chromosome 11q13.1.

OMIM : 57 Leukocyte adhesion deficiency-3 (LAD3), also known as LAD1 variant (LAD1V), is an autosomal recessive disorder characterized by LAD1 (116920)-like immune deficiency and Glanzmann thrombasthenia (GT; 273800)-like bleeding problems. LAD3 results from mutations in FERMT3, or KINDLIN3, which encodes an intracellular protein that interacts with beta-integrins in hematopoietic cells. In LAD3, the adhesive functions of integrins on both leukocytes and platelets are disrupted, most likely due to defects in activation-dependent alterations of surface integrins that enable high-avidity binding to ligands on target cells, a process termed 'inside-out signaling' (Svensson et al., 2009; Zimmerman, 2009). (612840)

UniProtKB/Swiss-Prot : 75 Leukocyte adhesion deficiency 3: A disorder characterized by recurrent bacterial infections without pus formation, leukocytosis and major bleeding disorders.

Related Diseases for Leukocyte Adhesion Deficiency, Type Iii

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



Diseases related to Leukocyte Adhesion Deficiency, Type Iii

Symptoms & Phenotypes for Leukocyte Adhesion Deficiency, Type Iii

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
splenomegaly

Hematology:
anemia
bleeding tendency
defective platelet adhesion with normal platelet count

Head And Neck Nose:
epistaxis

Abdomen Gastrointestinal:
mucosal bleeding

Abdomen Liver:
hepatomegaly

Immunology:
leukocytosis
recurrent bacterial infections
fungal infections
defective neutrophil adhesion to endothelial cells

Skin Nails Hair Skin:
petechiae

Skeletal:
osteopetrosis (in severe cases)


Clinical features from OMIM:

612840

Human phenotypes related to Leukocyte Adhesion Deficiency, Type Iii:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 frequent (33%) HP:0001744
2 hepatomegaly 32 HP:0002240
3 subcutaneous nodule 32 HP:0001482
4 anemia 32 HP:0001903
5 pain 32 HP:0012531
6 leukocytosis 32 HP:0001974
7 epistaxis 32 occasional (7.5%) HP:0000421
8 sepsis 32 HP:0100806
9 petechiae 32 HP:0000967
10 recurrent bacterial infections 32 frequent (33%) HP:0002718
11 recurrent skin infections 32 HP:0001581
12 osteopetrosis 32 occasional (7.5%) HP:0011002
13 hepatosplenomegaly 32 frequent (33%) HP:0001433
14 abnormality of the lymph nodes 32 HP:0002733
15 extramedullary hematopoiesis 32 very rare (1%) HP:0001978
16 abnormal thrombocyte morphology 32 frequent (33%) HP:0001872

UMLS symptoms related to Leukocyte Adhesion Deficiency, Type Iii:


petechiae of skin

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 F2R FERMT3 ITGA2B ITGB2 RAP1A RAPGEF3
2 hematopoietic system MP:0005397 9.76 F2R FERMT3 ITGA2B ITGB2 RAP1A RAPGEF3
3 homeostasis/metabolism MP:0005376 9.5 F2R FERMT3 ITGA2B ITGB2 RAPGEF3 RASGRP2
4 immune system MP:0005387 9.23 F2R FERMT3 ITGA2B ITGB2 RAP1A RAPGEF3

Drugs & Therapeutics for Leukocyte Adhesion Deficiency, Type Iii

Search Clinical Trials , NIH Clinical Center for Leukocyte Adhesion Deficiency, Type Iii

Genetic Tests for Leukocyte Adhesion Deficiency, Type Iii

Genetic tests related to Leukocyte Adhesion Deficiency, Type Iii:

# Genetic test Affiliating Genes
1 Leukocyte Adhesion Deficiency Type 1 29 ITGB2
2 Leukocyte Adhesion Deficiency, Type Iii 29 FERMT3

Anatomical Context for Leukocyte Adhesion Deficiency, Type Iii

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

41
Bone, Skin, Neutrophil, Bone Marrow, Lymph Node, Eye, Endothelial

Publications for Leukocyte Adhesion Deficiency, Type Iii

Articles related to Leukocyte Adhesion Deficiency, Type Iii:

# Title Authors Year
1
Long-term management of leukocyte adhesion deficiency type III without hematopoietic stem cell transplantation. ( 29472353 )
2018
2
Genetic Analysis of 13 Iranian Families With Leukocyte Adhesion Deficiency Type 1. ( 29750748 )
2018
3
Leukocyte Adhesion Deficiency Type 1 with Low Expression of CD 11b. ( 29866230 )
2018
4
Hematopoietic stem cell transplantation for the treatment of leukocyte adhesion deficiency type III. ( 28827066 )
2017
5
Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3. ( 26359933 )
2015
6
Leukocyte Adhesion Deficiency Type III: Clinical Features and Treatment With Stem Cell Transplantation. ( 25072369 )
2014
7
Kindlin-3-independent adhesion of neutrophils from patients with leukocyte adhesion deficiency type III. ( 24342549 )
2013
8
Mice lacking the signaling molecule CalDAG-GEFI represent a model for leukocyte adhesion deficiency type III. ( 17492052 )
2007
9
Retroviral-mediated gene transfer of the leukocyte integrin CD18 into peripheral blood CD34+ cells derived from a patient with leukocyte adhesion deficiency type 1. ( 9473215 )
1998

Variations for Leukocyte Adhesion Deficiency, Type Iii

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

6 (show top 50) (show all 72)
# Gene Variation Type Significance SNP ID Assembly Location
1 FERMT3 FERMT3, IVS13AS, A-G, -2 single nucleotide variant Pathogenic
2 FERMT3 NM_178443.2(FERMT3): c.48G> A (p.Trp16Ter) single nucleotide variant Pathogenic rs121918296 GRCh37 Chromosome 11, 63974884: 63974884
3 FERMT3 NM_178443.2(FERMT3): c.48G> A (p.Trp16Ter) single nucleotide variant Pathogenic rs121918296 GRCh38 Chromosome 11, 64207412: 64207412
4 FERMT3 NM_178443.2(FERMT3): c.1729C> T (p.Arg577Ter) single nucleotide variant Pathogenic rs121918297 GRCh37 Chromosome 11, 63990566: 63990566
5 FERMT3 NM_178443.2(FERMT3): c.1729C> T (p.Arg577Ter) single nucleotide variant Pathogenic rs121918297 GRCh38 Chromosome 11, 64223094: 64223094
6 FERMT3 NM_178443.2(FERMT3): c.687G> A (p.Trp229Ter) single nucleotide variant Pathogenic rs121918298 GRCh37 Chromosome 11, 63979120: 63979120
7 FERMT3 NM_178443.2(FERMT3): c.687G> A (p.Trp229Ter) single nucleotide variant Pathogenic rs121918298 GRCh38 Chromosome 11, 64211648: 64211648
8 FERMT3 NM_178443.2(FERMT3): c.1537C> T (p.Arg513Ter) single nucleotide variant Pathogenic rs121918295 GRCh37 Chromosome 11, 63988121: 63988121
9 FERMT3 NM_178443.2(FERMT3): c.1537C> T (p.Arg513Ter) single nucleotide variant Pathogenic rs121918295 GRCh38 Chromosome 11, 64220649: 64220649
10 FERMT3 FERMT3, GLY308ARG single nucleotide variant Pathogenic
11 FERMT3 FERMT3, 1-BP DEL, 1275T deletion Pathogenic
12 FERMT3 FERMT3, IVS2AS, A-C, -2 single nucleotide variant Pathogenic
13 FERMT3 NM_178443.2(FERMT3): c.1905C> T (p.Ile635=) single nucleotide variant Conflicting interpretations of pathogenicity rs142025489 GRCh37 Chromosome 11, 63990865: 63990865
14 FERMT3 NM_178443.2(FERMT3): c.1905C> T (p.Ile635=) single nucleotide variant Conflicting interpretations of pathogenicity rs142025489 GRCh38 Chromosome 11, 64223393: 64223393
15 FERMT3 NM_031471.5(FERMT3): c.1917G> A (p.Thr639=) single nucleotide variant Benign rs150686744 GRCh37 Chromosome 11, 63990889: 63990889
16 FERMT3 NM_031471.5(FERMT3): c.1917G> A (p.Thr639=) single nucleotide variant Benign rs150686744 GRCh38 Chromosome 11, 64223417: 64223417
17 FERMT3 NM_031471.5(FERMT3): c.159C> G (p.Ile53Met) single nucleotide variant Likely benign rs142815441 GRCh37 Chromosome 11, 63974995: 63974995
18 FERMT3 NM_031471.5(FERMT3): c.159C> G (p.Ile53Met) single nucleotide variant Likely benign rs142815441 GRCh38 Chromosome 11, 64207523: 64207523
19 FERMT3 NM_031471.5(FERMT3): c.130G> A (p.Gly44Arg) single nucleotide variant Benign rs149000560 GRCh37 Chromosome 11, 63974966: 63974966
20 FERMT3 NM_031471.5(FERMT3): c.130G> A (p.Gly44Arg) single nucleotide variant Benign rs149000560 GRCh38 Chromosome 11, 64207494: 64207494
21 FERMT3 NM_031471.5(FERMT3): c.405C> T (p.His135=) single nucleotide variant Benign rs78810429 GRCh37 Chromosome 11, 63978534: 63978534
22 FERMT3 NM_031471.5(FERMT3): c.405C> T (p.His135=) single nucleotide variant Benign rs78810429 GRCh38 Chromosome 11, 64211062: 64211062
23 FERMT3 NM_031471.5(FERMT3): c.86C> T (p.Ala29Val) single nucleotide variant Uncertain significance rs144256756 GRCh38 Chromosome 11, 64207450: 64207450
24 FERMT3 NM_031471.5(FERMT3): c.86C> T (p.Ala29Val) single nucleotide variant Uncertain significance rs144256756 GRCh37 Chromosome 11, 63974922: 63974922
25 FERMT3 NM_031471.5(FERMT3): c.941C> T (p.Ala314Val) single nucleotide variant Uncertain significance rs566565776 GRCh38 Chromosome 11, 64219570: 64219570
26 FERMT3 NM_031471.5(FERMT3): c.941C> T (p.Ala314Val) single nucleotide variant Uncertain significance rs566565776 GRCh37 Chromosome 11, 63987042: 63987042
27 FERMT3 NM_031471.5(FERMT3): c.1320G> A (p.Gln440=) single nucleotide variant Benign rs76744324 GRCh38 Chromosome 11, 64220444: 64220444
28 FERMT3 NM_031471.5(FERMT3): c.1320G> A (p.Gln440=) single nucleotide variant Benign rs76744324 GRCh37 Chromosome 11, 63987916: 63987916
29 FERMT3 NM_031471.5(FERMT3): c.1841A> G (p.Asn614Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 64223341: 64223341
30 FERMT3 NM_031471.5(FERMT3): c.1841A> G (p.Asn614Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 63990813: 63990813
31 FERMT3 NM_031471.5(FERMT3): c.1404C> T (p.Ala468=) single nucleotide variant Benign/Likely benign rs201501349 GRCh38 Chromosome 11, 64220528: 64220528
32 FERMT3 NM_031471.5(FERMT3): c.1404C> T (p.Ala468=) single nucleotide variant Benign/Likely benign rs201501349 GRCh37 Chromosome 11, 63988000: 63988000
33 FERMT3 NM_178443.2(FERMT3): c.1329G> A (p.Gln443=) single nucleotide variant Benign/Likely benign rs72920390 GRCh38 Chromosome 11, 64220441: 64220441
34 FERMT3 NM_178443.2(FERMT3): c.1329G> A (p.Gln443=) single nucleotide variant Benign/Likely benign rs72920390 GRCh37 Chromosome 11, 63987913: 63987913
35 FERMT3 NM_031471.5(FERMT3): c.607C> T (p.Pro203Ser) single nucleotide variant Likely benign rs143873934 GRCh38 Chromosome 11, 64211367: 64211367
36 FERMT3 NM_031471.5(FERMT3): c.607C> T (p.Pro203Ser) single nucleotide variant Likely benign rs143873934 GRCh37 Chromosome 11, 63978839: 63978839
37 FERMT3 NM_031471.5(FERMT3): c.268C> T (p.Arg90Cys) single nucleotide variant Uncertain significance rs373315115 GRCh38 Chromosome 11, 64210718: 64210718
38 FERMT3 NM_031471.5(FERMT3): c.268C> T (p.Arg90Cys) single nucleotide variant Uncertain significance rs373315115 GRCh37 Chromosome 11, 63978190: 63978190
39 FERMT3 NM_031471.5(FERMT3): c.456_458delGAA (p.Lys153del) deletion Uncertain significance GRCh37 Chromosome 11, 63978585: 63978587
40 FERMT3 NM_031471.5(FERMT3): c.456_458delGAA (p.Lys153del) deletion Uncertain significance GRCh38 Chromosome 11, 64211113: 64211115
41 FERMT3 NM_031471.5(FERMT3): c.1158C> G (p.Ser386Arg) single nucleotide variant Likely benign rs75295961 GRCh37 Chromosome 11, 63987441: 63987441
42 FERMT3 NM_031471.5(FERMT3): c.1158C> G (p.Ser386Arg) single nucleotide variant Likely benign rs75295961 GRCh38 Chromosome 11, 64219969: 64219969
43 FERMT3 NM_031471.5(FERMT3): c.684-10C> G single nucleotide variant Benign rs201247420 GRCh37 Chromosome 11, 63979107: 63979107
44 FERMT3 NM_031471.5(FERMT3): c.684-10C> G single nucleotide variant Benign rs201247420 GRCh38 Chromosome 11, 64211635: 64211635
45 FERMT3 NM_031471.5(FERMT3): c.1080-4G> A single nucleotide variant Likely benign rs764978388 GRCh38 Chromosome 11, 64219887: 64219887
46 FERMT3 NM_031471.5(FERMT3): c.1080-4G> A single nucleotide variant Likely benign rs764978388 GRCh37 Chromosome 11, 63987359: 63987359
47 FERMT3 NM_031471.5(FERMT3): c.320G> A (p.Arg107His) single nucleotide variant Likely benign rs138704967 GRCh38 Chromosome 11, 64210770: 64210770
48 FERMT3 NM_031471.5(FERMT3): c.320G> A (p.Arg107His) single nucleotide variant Likely benign rs138704967 GRCh37 Chromosome 11, 63978242: 63978242
49 FERMT3 NM_031471.5(FERMT3): c.536G> A (p.Arg179Gln) single nucleotide variant Uncertain significance rs778967874 GRCh38 Chromosome 11, 64211296: 64211296
50 FERMT3 NM_031471.5(FERMT3): c.536G> A (p.Arg179Gln) single nucleotide variant Uncertain significance rs778967874 GRCh37 Chromosome 11, 63978768: 63978768

Expression for Leukocyte Adhesion Deficiency, Type Iii

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

Pathways for Leukocyte Adhesion Deficiency, Type Iii

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.61 F2R ITGA2B ITGB2 RAP1A RAPGEF3 RASGRP2
2
Show member pathways
12.36 ITGB2 RAP1A RAPGEF3
3 12.33 F2R ITGA2B ITGB2
4
Show member pathways
12.3 F2R FERMT3 ITGA2B ITGB2 RAP1A RAPGEF3
5
Show member pathways
12.27 F2R ITGA2B ITGB2 RAP1A RAPGEF3 RASGRP2
6 12.25 ITGA2B ITGB2 RAP1A RAPGEF3
7
Show member pathways
12.02 F2R RAP1A RAPGEF3
8
Show member pathways
11.92 F2R ITGA2B ITGB2 RAP1A
9 11.83 ITGB2 NRXN2 SELP
10 11.74 FERMT3 ITGB2 RAP1A
11
Show member pathways
11.61 ITGA2B RAP1A RAPGEF3 RASGRP2
12 11.44 F2R FERMT3 ITGA2B RAP1A RASGRP2
13 11.42 ITGA2B ITGB2 RAP1A RASGRP2
14 11.33 ITGB2 SELP
15 11.28 F2R ITGA2B
16 11.28 RAP1A RAPGEF3 RASGRP2
17 11.26 ITGB2 SELP
18 11.24 ITGB2 SELP
19 11.24 ITGA2B ITGB2 RAP1A
20 11.1 ITGA2B ITGB2 RAP1A
21 10.64 RAP1A RAPGEF3 RASGRP2

GO Terms for Leukocyte Adhesion Deficiency, Type Iii

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.81 F2R FERMT3 ITGA2B ITGB2 NRXN2 RAP1A
2 external side of plasma membrane GO:0009897 9.5 ITGA2B ITGB2 SELP
3 integrin complex GO:0008305 9.26 ITGA2B ITGB2
4 plasma membrane GO:0005886 9.23 F2R ITGA2B ITGB2 NRXN2 RAP1A RAPGEF3
5 platelet alpha granule membrane GO:0031092 8.96 ITGA2B SELP

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.91 F2R NRXN2 RAP1A RAPGEF3 RASGRP2
2 inflammatory response GO:0006954 9.71 F2R ITGB2 SELP
3 platelet degranulation GO:0002576 9.58 FERMT3 ITGA2B SELP
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.55 F2R SELP
5 regulation of insulin secretion GO:0050796 9.52 RAP1A RAPGEF3
6 small GTPase mediated signal transduction GO:0007264 9.5 RAP1A RAPGEF3 RASGRP2
7 cellular response to cAMP GO:0071320 9.49 RAP1A RAPGEF3
8 platelet aggregation GO:0070527 9.48 FERMT3 ITGA2B
9 establishment of endothelial barrier GO:0061028 9.46 RAP1A RAPGEF3
10 positive regulation of GTPase activity GO:0043547 9.46 F2R RAP1A RAPGEF3 RASGRP2
11 positive regulation of leukocyte migration GO:0002687 9.43 ITGA2B SELP
12 integrin-mediated signaling pathway GO:0007229 9.43 FERMT3 ITGA2B ITGB2
13 Rap protein signal transduction GO:0032486 9.37 RAP1A RAPGEF3
14 cell adhesion GO:0007155 9.35 FERMT3 ITGA2B ITGB2 NRXN2 SELP
15 leukocyte cell-cell adhesion GO:0007159 8.8 FERMT3 ITGB2 SELP

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion molecule binding GO:0050839 8.96 ITGB2 NRXN2
2 Rap guanyl-nucleotide exchange factor activity GO:0017034 8.62 RAP1A RAPGEF3

Sources for Leukocyte Adhesion Deficiency, Type Iii

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
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