LAD3
MCID: LKC005
MIFTS: 50

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 56 29 13 6 39 71
Leukocyte Adhesion Deficiency 3 56 12 73 15
Leukocyte Adhesion Deficiency 1 Variant 56 12 73
Integrin Activation Deficiency Disease 56 12 73
Lad1v 56 12 73
Lad3 56 12 73
Iadd 56 12 73
Leukocyte Adhesion Deficiency Type Iii 12 58
Leukocyte Adhesion Deficiency 1 Variant; Lad1v 56
Integrin Activation Deficiency Disease; Iadd 56
Leukocyte Adhesion Deficiency-1 Variant 58
Leukocyte Adhesion Deficiency Type 1 71
Lad-1 Variant 58
Lad1 Variant 12
Lad-Iii 58

Characteristics:

Orphanet epidemiological data:

58
leukocyte adhesion deficiency type iii
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
leukocyte adhesion deficiency, type iii:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0110912
OMIM 56 612840
ICD10 via Orphanet 33 D84.8
UMLS via Orphanet 72 C2748536
Orphanet 58 ORPHA99844
MedGen 41 C2748536
UMLS 71 C0398738 C2748536

Summaries for Leukocyte Adhesion Deficiency, Type Iii

OMIM : 56 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)

MalaCards based summary : Leukocyte Adhesion Deficiency, Type Iii, also known as leukocyte adhesion deficiency 3, is related to leukocyte adhesion deficiency, type i and congenital disorder of glycosylation, type iic, 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 Response to elevated platelet cytosolic Ca2+ and MAPK Erk Pathway. The drugs Ustekinumab and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and endothelial, and related phenotypes are splenomegaly and hepatosplenomegaly

Disease Ontology : 12 A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has material basis in mutation in FERMT3 gene on chromosome 11q12.

UniProtKB/Swiss-Prot : 73 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

Human phenotypes related to Leukocyte Adhesion Deficiency, Type Iii:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 frequent (33%) HP:0001744
2 hepatosplenomegaly 31 frequent (33%) HP:0001433
3 recurrent bacterial infections 31 frequent (33%) HP:0002718
4 abnormal thrombocyte morphology 31 frequent (33%) HP:0001872
5 epistaxis 31 occasional (7.5%) HP:0000421
6 osteopetrosis 31 occasional (7.5%) HP:0011002
7 extramedullary hematopoiesis 31 very rare (1%) HP:0001978
8 hepatomegaly 31 HP:0002240
9 anemia 31 HP:0001903
10 subcutaneous nodule 31 HP:0001482
11 sepsis 31 HP:0100806
12 petechiae 31 HP:0000967
13 leukocytosis 31 HP:0001974
14 recurrent skin infections 31 HP:0001581
15 pain 31 HP:0012531
16 abnormality of the lymph nodes 31 HP:0002733

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

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

Skin Nails Hair Skin:
petechiae

Abdomen Gastrointestinal:
mucosal bleeding

Abdomen Liver:
hepatomegaly

Head And Neck Nose:
epistaxis

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

Skeletal:
osteopetrosis (in severe cases)

Clinical features from OMIM:

612840

UMLS symptoms related to Leukocyte Adhesion Deficiency, Type Iii:


petechiae of skin

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.32 FERMT3 ITGAD ITGB2 PLEK RAP1A RAPGEF3

Drugs & Therapeutics for Leukocyte Adhesion Deficiency, Type Iii

Drugs for Leukocyte Adhesion Deficiency, Type Iii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ustekinumab Approved, Investigational Phase 1, Phase 2 815610-63-0
2 Antibodies Phase 1, Phase 2
3 Antibodies, Monoclonal Phase 1, Phase 2
4 Dermatologic Agents Phase 1, Phase 2
5 Interleukin-12 Phase 1, Phase 2
6 Immunoglobulins Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Use of Ustekinumab (Anti-IL-12/23p40 Monoclonal Antibody) in Patients With Leukocyte Adhesion Deficiency Type 1 (LAD1) Who Have Inflammatory Pathology Recruiting NCT03366142 Phase 1, Phase 2 Ustekinumab
2 Apheresis and CD34+ Selection of Mobilized Peripheral Blood CD34+ Cells From Patients With DOCK8 Deficiency, LAD-1, and GATA2 Deficiency Recruiting NCT01212055

Search 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 Iii 29 FERMT3

Anatomical Context for Leukocyte Adhesion Deficiency, Type Iii

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

40
Bone, Skin, Endothelial, Neutrophil, Bone Marrow, Eye, Lymph Node

Publications for Leukocyte Adhesion Deficiency, Type Iii

Articles related to Leukocyte Adhesion Deficiency, Type Iii:

(show all 29)
# Title Authors PMID Year
1
A novel leukocyte adhesion deficiency III variant: kindlin-3 deficiency results in integrin- and nonintegrin-related defects in different steps of leukocyte adhesion. 61 56 6
21441448 2011
2
Two mutations in the KINDLIN3 gene of a new leukocyte adhesion deficiency III patient reveal distinct effects on leukocyte function in vitro. 56 6
20357244 2010
3
LAD-1/variant syndrome is caused by mutations in FERMT3. 6 56
19064721 2009
4
Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation. 6 56
19234463 2009
5
A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans. 6 56
19234460 2009
6
A novel form of integrin dysfunction involving beta1, beta2, and beta3 integrins. 6 56
12511588 2003
7
LAD syndromes: FERMT3 kindles the signal. 56
19423742 2009
8
Kindlin-3 is required for beta2 integrin-mediated leukocyte adhesion to endothelial cells. 56
19234461 2009
9
Kindlin-3: a new gene involved in the pathogenesis of LAD-III. 6
18779414 2008
10
Kindlin-3 is essential for integrin activation and platelet aggregation. 56
18278053 2008
11
A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets. 56
17576779 2007
12
Natural history and early diagnosis of LAD-1/variant syndrome. 56
17185466 2007
13
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. 56
12595312 2003
14
Leukocyte adhesion deficiency type 1 (LAD-1)/variant. A novel immunodeficiency syndrome characterized by dysfunctional beta2 integrins. 56
9312170 1997
15
Successful hematopoietic stem cell transplant in leukocyte adhesion deficiency type III presenting primarily as malignant infantile osteopetrosis. 61
32092470 2020
16
Novel variants in FERMT3 and RASGRP2-Genetic linkage in Glanzmann-like bleeding disorders. 61
31724816 2020
17
Diagnosis of platelet function disorders: A standardized, rational, and modular flow cytometric approach. 61
29227167 2018
18
Long-term management of leukocyte adhesion deficiency type III without hematopoietic stem cell transplantation. 61
29472353 2018
19
Hematopoietic stem cell transplantation for the treatment of leukocyte adhesion deficiency type III. 61
28827066 2017
20
An International Genetic Survey of Breed-Specific Diseases in Working Dogs from the United States, Israel, and Poland. 61
29421799 2017
21
Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3. 61
26359933 2016
22
The kindlin family: functions, signaling properties and implications for human disease. 61
26729028 2016
23
Kindlin-3-mediated integrin adhesion is dispensable for quiescent but essential for activated hematopoietic stem cells. 61
26282877 2015
24
Optimal T Cell Activation and B Cell Antibody Responses In Vivo Require the Interaction between Leukocyte Function-Associated Antigen-1 and Kindlin-3. 61
25987740 2015
25
Leukocyte adhesion deficiency type III: clinical features and treatment with stem cell transplantation. 61
25072369 2015
26
Kindlin-3-independent adhesion of neutrophils from patients with leukocyte adhesion deficiency type III. 61
24342549 2014
27
Kindlin-3 in the immune system. 61
24660120 2014
28
The β2 integrin-kindlin-3 interaction is essential for T-cell homing but dispensable for T-cell activation in vivo. 61
23823319 2013
29
Mice lacking the signaling molecule CalDAG-GEFI represent a model for leukocyte adhesion deficiency type III. 61
17492052 2007

Variations for Leukocyte Adhesion Deficiency, Type Iii

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

6 (show top 50) (show all 89) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FERMT3 NM_031471.6(FERMT3):c.664_665del (p.Lys222fs)deletion Pathogenic 643472 11:63978896-63978897 11:64211424-64211425
2 FERMT3 NM_031471.6(FERMT3):c.814dup (p.Tyr272fs)duplication Pathogenic 652864 11:63986749-63986750 11:64219277-64219278
3 FERMT3 NM_031471.6(FERMT3):c.1029+2T>CSNV Pathogenic 646802 11:63987132-63987132 11:64219660-64219660
4 FERMT3 FERMT3, IVS13AS, A-G, -2SNV Pathogenic 2708
5 FERMT3 NM_031471.6(FERMT3):c.48G>A (p.Trp16Ter)SNV Pathogenic 2709 rs121918296 11:63974884-63974884 11:64207412-64207412
6 FERMT3 NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter)SNV Pathogenic 2710 rs121918297 11:63990566-63990566 11:64223094-64223094
7 FERMT3 NM_031471.6(FERMT3):c.687G>A (p.Trp229Ter)SNV Pathogenic 2711 rs121918298 11:63979120-63979120 11:64211648-64211648
8 FERMT3 NM_031471.6(FERMT3):c.1525C>T (p.Arg509Ter)SNV Pathogenic 2712 rs121918295 11:63988121-63988121 11:64220649-64220649
9 FERMT3 NM_031471.6(FERMT3):c.1275del (p.Glu426fs)deletion Pathogenic 30687 rs775138431 11:63987762-63987762 11:64220290-64220290
10 FERMT3 NM_031471.6(FERMT3):c.161-2A>CSNV Pathogenic 31528 rs1286499329 11:63978081-63978081 11:64210609-64210609
11 FERMT3 NM_031471.6(FERMT3):c.1188G>A (p.Gln396=)SNV Conflicting interpretations of pathogenicity 193746 rs148021416 11:63987471-63987471 11:64219999-64219999
12 FERMT3 NM_031471.6(FERMT3):c.1893C>T (p.Ile631=)SNV Conflicting interpretations of pathogenicity 194564 rs142025489 11:63990865-63990865 11:64223393-64223393
13 FERMT3 NM_031471.6(FERMT3):c.130G>A (p.Gly44Arg)SNV Conflicting interpretations of pathogenicity 195388 rs149000560 11:63974966-63974966 11:64207494-64207494
14 FERMT3 NM_031471.6(FERMT3):c.615C>T (p.Pro205=)SNV Conflicting interpretations of pathogenicity 289660 rs142774418 11:63978847-63978847 11:64211375-64211375
15 FERMT3 NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys)SNV Conflicting interpretations of pathogenicity 625944 rs140328152 11:63978253-63978253 11:64210781-64210781
16 FERMT3 NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr)SNV Conflicting interpretations of pathogenicity 625947 rs150869428 11:63979169-63979169 11:64211697-64211697
17 FERMT3 NM_031471.6(FERMT3):c.41C>G (p.Ser14Trp)SNV Uncertain significance 643214 11:63974877-63974877 11:64207405-64207405
18 FERMT3 NM_031471.6(FERMT3):c.269G>A (p.Arg90His)SNV Uncertain significance 654615 11:63978191-63978191 11:64210719-64210719
19 FERMT3 NM_031471.6(FERMT3):c.517G>A (p.Val173Met)SNV Uncertain significance 662681 11:63978749-63978749 11:64211277-64211277
20 FERMT3 NM_031471.6(FERMT3):c.565G>A (p.Ala189Thr)SNV Uncertain significance 649164 11:63978797-63978797 11:64211325-64211325
21 FERMT3 NM_031471.6(FERMT3):c.536G>A (p.Arg179Gln)SNV Uncertain significance 537720 rs778967874 11:63978768-63978768 11:64211296-64211296
22 FERMT3 NM_031471.6(FERMT3):c.901A>G (p.Ile301Val)SNV Uncertain significance 646303 11:63987002-63987002 11:64219530-64219530
23 FERMT3 NM_031471.6(FERMT3):c.992A>C (p.Glu331Ala)SNV Uncertain significance 655163 11:63987093-63987093 11:64219621-64219621
24 FERMT3 NM_031471.6(FERMT3):c.1237G>A (p.Gly413Ser)SNV Uncertain significance 646601 11:63987724-63987724 11:64220252-64220252
25 FERMT3 NM_031471.6(FERMT3):c.1400A>G (p.Gln467Arg)SNV Uncertain significance 664845 11:63987996-63987996 11:64220524-64220524
26 FERMT3 NM_031471.6(FERMT3):c.1472A>C (p.Asp491Ala)SNV Uncertain significance 645185 11:63988068-63988068 11:64220596-64220596
27 FERMT3 NM_031471.6(FERMT3):c.1658_1659del (p.Tyr553fs)deletion Uncertain significance 643951 11:63988599-63988600 11:64221127-64221128
28 FERMT3 NM_031471.6(FERMT3):c.86C>T (p.Ala29Val)SNV Uncertain significance 417964 rs144256756 11:63974922-63974922 11:64207450-64207450
29 FERMT3 NM_031471.6(FERMT3):c.941C>T (p.Ala314Val)SNV Uncertain significance 470173 rs566565776 11:63987042-63987042 11:64219570-64219570
30 FERMT3 NM_031471.6(FERMT3):c.1841A>G (p.Asn614Ser)SNV Uncertain significance 470172 rs1337201735 11:63990813-63990813 11:64223341-64223341
31 FERMT3 NM_031471.6(FERMT3):c.268C>T (p.Arg90Cys)SNV Uncertain significance 537721 rs373315115 11:63978190-63978190 11:64210718-64210718
32 FERMT3 NM_031471.6(FERMT3):c.447_449GAA[3] (p.Lys153del)short repeat Uncertain significance 537722 rs759155629 11:63978575-63978577 11:64211103-64211105
33 FERMT3 NM_031471.6(FERMT3):c.298G>A (p.Val100Ile)SNV Uncertain significance 583150 rs145048660 11:63978220-63978220 11:64210748-64210748
34 FERMT3 NM_031471.6(FERMT3):c.849G>T (p.Glu283Asp)SNV Uncertain significance 567337 rs568602034 11:63986785-63986785 11:64219313-64219313
35 FERMT3 NM_031471.6(FERMT3):c.56G>A (p.Arg19Gln)SNV Uncertain significance 580905 rs150500299 11:63974892-63974892 11:64207420-64207420
36 FERMT3 NM_031471.6(FERMT3):c.386G>A (p.Arg129His)SNV Uncertain significance 575756 rs773077169 11:63978308-63978308 11:64210836-64210836
37 FERMT3 NM_031471.6(FERMT3):c.634C>T (p.Arg212Cys)SNV Uncertain significance 576929 rs369072342 11:63978866-63978866 11:64211394-64211394
38 FERMT3 NM_031471.6(FERMT3):c.1924C>T (p.Arg642Trp)SNV Uncertain significance 581991 rs778780064 11:63990896-63990896 11:64223424-64223424
39 FERMT3 NM_031471.6(FERMT3):c.922G>A (p.Gly308Arg)SNV Uncertain significance 579563 rs748770309 11:63987023-63987023 11:64219551-64219551
40 FERMT3 NM_031471.6(FERMT3):c.332G>A (p.Arg111His)SNV Uncertain significance 578258 rs145419469 11:63978254-63978254 11:64210782-64210782
41 FERMT3 NM_031471.6(FERMT3):c.1895G>T (p.Gly632Val)SNV Uncertain significance 577139 rs1565299599 11:63990867-63990867 11:64223395-64223395
42 FERMT3 NM_031471.6(FERMT3):c.558G>A (p.Ser186=)SNV Uncertain significance 625946 rs747094642 11:63978790-63978790 11:64211318-64211318
43 FERMT3 NM_031471.6(FERMT3):c.25G>A (p.Gly9Arg)SNV Uncertain significance 844514 11:63974861-63974861 11:64207389-64207389
44 FERMT3 NM_031471.6(FERMT3):c.140T>A (p.Leu47Gln)SNV Uncertain significance 843953 11:63974976-63974976 11:64207504-64207504
45 FERMT3 NM_031471.6(FERMT3):c.439_441AAG[1] (p.Lys148del)short repeat Uncertain significance 858157 11:63978566-63978568 11:64211094-64211096
46 FERMT3 NM_031471.6(FERMT3):c.536G>T (p.Arg179Leu)SNV Uncertain significance 855910 11:63978768-63978768 11:64211296-64211296
47 FERMT3 NM_031471.6(FERMT3):c.608C>T (p.Pro203Leu)SNV Uncertain significance 837686 11:63978840-63978840 11:64211368-64211368
48 FERMT3 NM_031471.6(FERMT3):c.635G>A (p.Arg212His)SNV Uncertain significance 864692 11:63978867-63978867 11:64211395-64211395
49 FERMT3 NM_031471.6(FERMT3):c.731G>A (p.Gly244Glu)SNV Uncertain significance 845195 11:63979164-63979164 11:64211692-64211692
50 FERMT3 NM_031471.6(FERMT3):c.1165G>A (p.Glu389Lys)SNV Uncertain significance 861209 11:63987448-63987448 11:64219976-64219976

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 TLN1 RASGRP2 RASGRP1 RAPGEF3 RAP1A PLEK
2
Show member pathways
12.71 RASGRP1 RAPGEF3 RAP1A ITGB2 ITGAD FERMT2
3
Show member pathways
12.61 TLN1 RASGRP2 RAP1A ITGB2
4
Show member pathways
12.56 TLN1 RASGRP2 RASGRP1 RAPGEF3 RAP1A ITGB2
5
Show member pathways
12.45 RDX RAPGEF3 RAP1A ITGB2
6 12.35 TLN1 RDX RAPGEF3 RAP1A ITGB2 FERMT2
7
Show member pathways
12.25 TLN1 RASGRP1 RAP1A APBB1IP
8
Show member pathways
11.87 TLN1 RAP1A APBB1IP
9
Show member pathways
11.75 RASGRP2 RASGRP1 RAP1A
10 11.73 TLN1 RASGRP2 RASGRP1 RAP1A FERMT3 APBB1IP
11 11.58 RASGRP2 RASGRP1 RAP1A ITGB2 ITGAD
12 11.52 TLN1 RAP1A ITGB2 FERMT3 FERMT2 FERMT1
13 11.39 RASGRP2 RAPGEF3 RAP1A
14
Show member pathways
11.37 RASGRP2 RASGRP1 RAP1A
15 11.37 TLN1 RDX RAP1A ITGB2 ITGAD
16
Show member pathways
11.09 RASGRP2 RASGRP1
17
Show member pathways
11.09 TLN1 RASGRP2 RASGRP1 RAPGEF3 RAP1A APBB1IP
18 11.01 RASGRP2 RASGRP1
19 10.76 RASGRP2 RASGRP1 RAPGEF3 RAP1A

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 plasma membrane GO:0005886 10.18 TLN1 RDX RASGRP2 RASGRP1 RAPGEF3 RAP1A
2 extracellular exosome GO:0070062 10.03 TLN1 RDX RAPGEF3 RAP1A LAD1 ITGB2
3 cell projection GO:0042995 9.95 TLN1 RDX RASGRP2 FERMT3 FERMT2 FERMT1
4 cell junction GO:0030054 9.87 TLN1 RASGRP2 RAP1A FERMT3 FERMT2 FERMT1
5 cell surface GO:0009986 9.85 TLN1 ITGBL1 ITGB2 ITGAD FERMT2
6 ruffle membrane GO:0032587 9.46 TLN1 RASGRP2 PLEK FERMT1
7 integrin complex GO:0008305 9.43 ITGBL1 ITGB2 ITGAD
8 focal adhesion GO:0005925 9.17 TLN1 RDX ITGBL1 ITGB2 FERMT2 FERMT1
9 cell-substrate junction GO:0030055 9.13 FERMT3 FERMT2 FERMT1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 intracellular signal transduction GO:0035556 9.88 RASGRP2 RASGRP1 RAPGEF3 PLEK
2 cell adhesion GO:0007155 9.8 TLN1 ITGBL1 ITGB2 ITGAD FERMT3 FERMT2
3 positive regulation of GTPase activity GO:0043547 9.78 RASGRP2 RASGRP1 RAPGEF3 RAP1A
4 regulation of cell shape GO:0008360 9.71 RDX ITGB2 FERMT2
5 platelet degranulation GO:0002576 9.67 TLN1 PLEK FERMT3
6 small GTPase mediated signal transduction GO:0007264 9.67 RASGRP2 RASGRP1 RAPGEF3 RAP1A
7 platelet aggregation GO:0070527 9.58 TLN1 PLEK FERMT3
8 cortical actin cytoskeleton organization GO:0030866 9.57 TLN1 PLEK
9 leukocyte cell-cell adhesion GO:0007159 9.56 ITGB2 FERMT3
10 heterotypic cell-cell adhesion GO:0034113 9.55 ITGB2 ITGAD
11 natural killer cell activation GO:0030101 9.52 RASGRP1 ITGB2
12 cell adhesion mediated by integrin GO:0033627 9.51 ITGBL1 ITGB2
13 establishment of endothelial barrier GO:0061028 9.5 RDX RAPGEF3 RAP1A
14 microvillus assembly GO:0030033 9.46 RDX RAP1A
15 Rap protein signal transduction GO:0032486 9.43 RAPGEF3 RAP1A
16 cell-matrix adhesion GO:0007160 9.35 ITGBL1 ITGB2 FERMT3 FERMT2 FERMT1
17 integrin activation GO:0033622 9.33 TLN1 FERMT3 FERMT2
18 integrin-mediated signaling pathway GO:0007229 9.23 TLN1 PLEK ITGBL1 ITGB2 ITGAD FERMT3

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

# Name GO ID Score Top Affiliating Genes
1 diacylglycerol binding GO:0019992 9.16 RASGRP2 RASGRP1
2 integrin binding GO:0005178 9.1 TLN1 ITGBL1 ITGB2 FERMT3 FERMT2 FERMT1
3 Rap guanyl-nucleotide exchange factor activity GO:0017034 8.96 RAPGEF3 RAP1A

Sources for Leukocyte Adhesion Deficiency, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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