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 57 29 13 6 39 70
Leukocyte Adhesion Deficiency 3 57 12 72 15
Leukocyte Adhesion Deficiency 1 Variant 57 12 72
Integrin Activation Deficiency Disease 57 12 72
Lad1v 57 12 72
Lad3 57 12 72
Iadd 57 12 72
Leukocyte Adhesion Deficiency Type Iii 12 58
Leukocyte Adhesion Deficiency 1 Variant; Lad1v 57
Integrin Activation Deficiency Disease; Iadd 57
Leukocyte Adhesion Deficiency-1 Variant 58
Leukocyte Adhesion Deficiency Type 1 70
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®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
delayed wound healing
delayed separation of umbilical cord
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® 57 612840
ICD10 via Orphanet 33 D84.8
UMLS via Orphanet 71 C2748536
Orphanet 58 ORPHA99844
MedGen 41 C2748536
UMLS 70 C0398738 C2748536

Summaries for Leukocyte Adhesion Deficiency, Type Iii

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). For a discussion of genetic heterogeneity of leukocyte adhesion deficiency, see 116920. (612840) (Updated 20-May-2021)

MalaCards based summary : Leukocyte Adhesion Deficiency, Type Iii, also known as leukocyte adhesion deficiency 3, is related to glanzmann thrombasthenia 1 and leukocyte adhesion deficiency, type i, and has symptoms including petechiae of skin An important gene associated with Leukocyte Adhesion Deficiency, Type Iii is FERMT3 (FERM Domain Containing Kindlin 3), and among its related pathways/superpathways are ERK Signaling and Response to elevated platelet cytosolic Ca2+. The drugs Ustekinumab and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include eye, bone marrow and bone, 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 : 72 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

Diseases related to Leukocyte Adhesion Deficiency, Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glanzmann thrombasthenia 1 29.8 RASGRP2 RAP1A FERMT3
2 leukocyte adhesion deficiency, type i 27.9 TLN1 RASGRP2 RASGRP1 RAP1A PLEK ITGB2
3 combined immunodeficiency 27.8 TLN1 RASGRP2 RASGRP1 ITGB2 ITGAD FERMT3
4 congenital disorder of glycosylation, type iic 11.1
5 autosomal recessive disease 10.1
6 osteopetrosis 10.1
7 thrombasthenia 10.1
8 bacterial infectious disease 10.0
9 kindler syndrome 9.9 FERMT3 FERMT2 FERMT1
10 bleeding disorder, platelet-type, 18 9.6 RASGRP2 RASGRP1 RAPGEF3 RAP1A FERMT3

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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 hematopoietic system MP:0005397 9.61 FERMT3 ITGAD ITGB2 PLEK RAP1A RAPGEF3
2 immune system MP:0005387 9.28 FERMT1 FERMT3 ITGAD ITGB2 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 Immunoglobulins Phase 1, Phase 2
3 Antibodies Phase 1, Phase 2
4 Interleukin-12 Phase 1, Phase 2
5 Antibodies, Monoclonal Phase 1, Phase 2
6 Dermatologic Agents 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

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
Eye, Bone Marrow, Bone, Endothelial, Neutrophil

Publications for Leukocyte Adhesion Deficiency, Type Iii

Articles related to Leukocyte Adhesion Deficiency, Type Iii:

(show all 32)
# 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 6 57
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. 57 6
20357244 2010
3
LAD-1/variant syndrome is caused by mutations in FERMT3. 57 6
19064721 2009
4
A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans. 57 6
19234460 2009
5
Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation. 57 6
19234463 2009
6
A novel form of integrin dysfunction involving beta1, beta2, and beta3 integrins. 57 6
12511588 2003
7
Novel aspects of Kindlin-3 function in humans based on a new case of leukocyte adhesion deficiency III. 6
22564402 2012
8
Hematologically important mutations: leukocyte adhesion deficiency (first update). 6
22134107 2012
9
LAD syndromes: FERMT3 kindles the signal. 57
19423742 2009
10
Kindlin-3 is required for beta2 integrin-mediated leukocyte adhesion to endothelial cells. 57
19234461 2009
11
Kindlin-3: a new gene involved in the pathogenesis of LAD-III. 6
18779414 2008
12
Kindlin-3 is essential for integrin activation and platelet aggregation. 57
18278053 2008
13
A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets. 57
17576779 2007
14
Natural history and early diagnosis of LAD-1/variant syndrome. 57
17185466 2007
15
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. 57
12595312 2003
16
Leukocyte adhesion deficiency type 1 (LAD-1)/variant. A novel immunodeficiency syndrome characterized by dysfunctional beta2 integrins. 57
9312170 1997
17
Kindlin3-Dependent CD11b/CD18-Integrin Activation Is Required for Potentiation of Neutrophil Cytotoxicity by CD47-SIRP╬▒ Checkpoint Disruption. 61
33355195 2021
18
Successful hematopoietic stem cell transplant in leukocyte adhesion deficiency type III presenting primarily as malignant infantile osteopetrosis. 61
32092470 2020
19
Novel variants in FERMT3 and RASGRP2-Genetic linkage in Glanzmann-like bleeding disorders. 61
31724816 2020
20
Diagnosis of platelet function disorders: A standardized, rational, and modular flow cytometric approach. 61
29227167 2018
21
Long-term management of leukocyte adhesion deficiency type III without hematopoietic stem cell transplantation. 61
29472353 2018
22
Hematopoietic stem cell transplantation for the treatment of leukocyte adhesion deficiency type III. 61
28827066 2017
23
An International Genetic Survey of Breed-Specific Diseases in Working Dogs from the United States, Israel, and Poland. 61
29421799 2017
24
Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3. 61
26359933 2016
25
The kindlin family: functions, signaling properties and implications for human disease. 61
26729028 2016
26
Kindlin-3-mediated integrin adhesion is dispensable for quiescent but essential for activated hematopoietic stem cells. 61
26282877 2015
27
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
28
Leukocyte adhesion deficiency type III: clinical features and treatment with stem cell transplantation. 61
25072369 2015
29
Kindlin-3-independent adhesion of neutrophils from patients with leukocyte adhesion deficiency type III. 61
24342549 2014
30
Kindlin-3 in the immune system. 61
24660120 2014
31
The ╬▓2 integrin-kindlin-3 interaction is essential for T-cell homing but dispensable for T-cell activation in vivo. 61
23823319 2013
32
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 132)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FERMT3 FERMT3, IVS13AS, A-G, -2 SNV Pathogenic 2708 GRCh37:
GRCh38:
2 FERMT3 NM_031471.6(FERMT3):c.48G>A (p.Trp16Ter) SNV Pathogenic 2709 rs121918296 GRCh37: 11:63974884-63974884
GRCh38: 11:64207412-64207412
3 FERMT3 NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter) SNV Pathogenic 2710 rs121918297 GRCh37: 11:63990566-63990566
GRCh38: 11:64223094-64223094
4 FERMT3 NM_031471.6(FERMT3):c.687G>A (p.Trp229Ter) SNV Pathogenic 2711 rs121918298 GRCh37: 11:63979120-63979120
GRCh38: 11:64211648-64211648
5 FERMT3 NM_031471.6(FERMT3):c.814dup (p.Tyr272fs) Duplication Pathogenic 652864 rs1591037806 GRCh37: 11:63986749-63986750
GRCh38: 11:64219277-64219278
6 FERMT3 NM_031471.6(FERMT3):c.1029+2T>C SNV Pathogenic 646802 rs1591038507 GRCh37: 11:63987132-63987132
GRCh38: 11:64219660-64219660
7 FERMT3 NM_031471.6(FERMT3):c.664_665del (p.Lys222fs) Deletion Pathogenic 643472 rs1591028090 GRCh37: 11:63978896-63978897
GRCh38: 11:64211424-64211425
8 FERMT3 NM_031471.6(FERMT3):c.1525C>T (p.Arg509Ter) SNV Pathogenic 2712 rs121918295 GRCh37: 11:63988121-63988121
GRCh38: 11:64220649-64220649
9 FERMT3 NM_031471.6(FERMT3):c.161-2A>C SNV Pathogenic 31528 rs1286499329 GRCh37: 11:63978081-63978081
GRCh38: 11:64210609-64210609
10 FERMT3 NM_031471.6(FERMT3):c.1275del (p.Glu426fs) Deletion Pathogenic 30687 rs775138431 GRCh37: 11:63987762-63987762
GRCh38: 11:64220290-64220290
11 FERMT3 NM_031471.6(FERMT3):c.1312-2A>C SNV Likely pathogenic 947116 GRCh37: 11:63987906-63987906
GRCh38: 11:64220434-64220434
12 FERMT3 NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr) SNV Conflicting interpretations of pathogenicity 625947 rs150869428 GRCh37: 11:63979169-63979169
GRCh38: 11:64211697-64211697
13 FERMT3 NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys) SNV Conflicting interpretations of pathogenicity 625944 rs140328152 GRCh37: 11:63978253-63978253
GRCh38: 11:64210781-64210781
14 FERMT3 NM_031471.6(FERMT3):c.558G>A (p.Ser186=) SNV Uncertain significance 625946 rs747094642 GRCh37: 11:63978790-63978790
GRCh38: 11:64211318-64211318
15 FERMT3 NM_031471.6(FERMT3):c.1237G>A (p.Gly413Ser) SNV Uncertain significance 646601 rs150164798 GRCh37: 11:63987724-63987724
GRCh38: 11:64220252-64220252
16 FERMT3 NM_031471.6(FERMT3):c.1472A>C (p.Asp491Ala) SNV Uncertain significance 645185 rs142686129 GRCh37: 11:63988068-63988068
GRCh38: 11:64220596-64220596
17 FERMT3 NM_031471.6(FERMT3):c.1658_1659del (p.Tyr553fs) Deletion Uncertain significance 643951 rs1591041141 GRCh37: 11:63988599-63988600
GRCh38: 11:64221127-64221128
18 FERMT3 NM_031471.6(FERMT3):c.565G>A (p.Ala189Thr) SNV Uncertain significance 649164 rs200176196 GRCh37: 11:63978797-63978797
GRCh38: 11:64211325-64211325
19 FERMT3 NM_031471.6(FERMT3):c.1400A>G (p.Gln467Arg) SNV Uncertain significance 664845 rs758346041 GRCh37: 11:63987996-63987996
GRCh38: 11:64220524-64220524
20 FERMT3 NM_031471.6(FERMT3):c.269G>A (p.Arg90His) SNV Uncertain significance 654615 rs552829558 GRCh37: 11:63978191-63978191
GRCh38: 11:64210719-64210719
21 FERMT3 NM_031471.6(FERMT3):c.41C>G (p.Ser14Trp) SNV Uncertain significance 643214 rs778799174 GRCh37: 11:63974877-63974877
GRCh38: 11:64207405-64207405
22 FERMT3 NM_031471.6(FERMT3):c.298G>A (p.Val100Ile) SNV Uncertain significance 583150 rs145048660 GRCh37: 11:63978220-63978220
GRCh38: 11:64210748-64210748
23 FERMT3 NM_031471.6(FERMT3):c.1924C>T (p.Arg642Trp) SNV Uncertain significance 581991 rs778780064 GRCh37: 11:63990896-63990896
GRCh38: 11:64223424-64223424
24 FERMT3 NM_031471.6(FERMT3):c.634C>T (p.Arg212Cys) SNV Uncertain significance 576929 rs369072342 GRCh37: 11:63978866-63978866
GRCh38: 11:64211394-64211394
25 FERMT3 NM_031471.6(FERMT3):c.386G>A (p.Arg129His) SNV Uncertain significance 575756 rs773077169 GRCh37: 11:63978308-63978308
GRCh38: 11:64210836-64210836
26 FERMT3 NM_031471.6(FERMT3):c.849G>T (p.Glu283Asp) SNV Uncertain significance 567337 rs568602034 GRCh37: 11:63986785-63986785
GRCh38: 11:64219313-64219313
27 FERMT3 NM_031471.6(FERMT3):c.447_449GAA[3] (p.Lys153del) Microsatellite Uncertain significance 537722 rs759155629 GRCh37: 11:63978575-63978577
GRCh38: 11:64211103-64211105
28 FERMT3 NM_031471.6(FERMT3):c.536G>A (p.Arg179Gln) SNV Uncertain significance 537720 rs778967874 GRCh37: 11:63978768-63978768
GRCh38: 11:64211296-64211296
29 FERMT3 NM_031471.6(FERMT3):c.683+5A>C SNV Uncertain significance 962092 GRCh37: 11:63978920-63978920
GRCh38: 11:64211448-64211448
30 FERMT3 NM_031471.6(FERMT3):c.941C>T (p.Ala314Val) SNV Uncertain significance 470173 rs566565776 GRCh37: 11:63987042-63987042
GRCh38: 11:64219570-64219570
31 FERMT3 NM_031471.6(FERMT3):c.308G>A (p.Arg103Gln) SNV Uncertain significance 935214 GRCh37: 11:63978230-63978230
GRCh38: 11:64210758-64210758
32 FERMT3 NM_031471.6(FERMT3):c.1501G>A (p.Gly501Ser) SNV Uncertain significance 938442 GRCh37: 11:63988097-63988097
GRCh38: 11:64220625-64220625
33 FERMT3 NM_031471.6(FERMT3):c.1231G>A (p.Val411Ile) SNV Uncertain significance 938839 GRCh37: 11:63987718-63987718
GRCh38: 11:64220246-64220246
34 FERMT3 NM_031471.6(FERMT3):c.901A>G (p.Ile301Val) SNV Uncertain significance 646303 rs906322276 GRCh37: 11:63987002-63987002
GRCh38: 11:64219530-64219530
35 FERMT3 NM_031471.6(FERMT3):c.1448C>T (p.Pro483Leu) SNV Uncertain significance 843422 GRCh37: 11:63988044-63988044
GRCh38: 11:64220572-64220572
36 FERMT3 NM_031471.6(FERMT3):c.140T>A (p.Leu47Gln) SNV Uncertain significance 843953 GRCh37: 11:63974976-63974976
GRCh38: 11:64207504-64207504
37 FERMT3 NM_031471.6(FERMT3):c.1504C>T (p.Leu502Phe) SNV Uncertain significance 855380 GRCh37: 11:63988100-63988100
GRCh38: 11:64220628-64220628
38 FERMT3 NM_031471.6(FERMT3):c.325G>A (p.Ala109Thr) SNV Uncertain significance 942982 GRCh37: 11:63978247-63978247
GRCh38: 11:64210775-64210775
39 FERMT3 NM_031471.6(FERMT3):c.862G>A (p.Glu288Lys) SNV Uncertain significance 956072 GRCh37: 11:63986798-63986798
GRCh38: 11:64219326-64219326
40 FERMT3 NM_031471.6(FERMT3):c.1841A>G (p.Asn614Ser) SNV Uncertain significance 470172 rs1337201735 GRCh37: 11:63990813-63990813
GRCh38: 11:64223341-64223341
41 FERMT3 NM_031471.6(FERMT3):c.922G>A (p.Gly308Arg) SNV Uncertain significance 579563 rs748770309 GRCh37: 11:63987023-63987023
GRCh38: 11:64219551-64219551
42 FERMT3 NM_031471.6(FERMT3):c.56G>A (p.Arg19Gln) SNV Uncertain significance 580905 rs150500299 GRCh37: 11:63974892-63974892
GRCh38: 11:64207420-64207420
43 FERMT3 NM_031471.6(FERMT3):c.731G>A (p.Gly244Glu) SNV Uncertain significance 845195 GRCh37: 11:63979164-63979164
GRCh38: 11:64211692-64211692
44 FERMT3 NM_031471.6(FERMT3):c.439_441AAG[1] (p.Lys148del) Microsatellite Uncertain significance 858157 GRCh37: 11:63978566-63978568
GRCh38: 11:64211094-64211096
45 FERMT3 NM_031471.6(FERMT3):c.967C>G (p.Leu323Val) SNV Uncertain significance 936549 GRCh37: 11:63987068-63987068
GRCh38: 11:64219596-64219596
46 FERMT3 NM_031471.6(FERMT3):c.728C>G (p.Ala243Gly) SNV Uncertain significance 959539 GRCh37: 11:63979161-63979161
GRCh38: 11:64211689-64211689
47 FERMT3 NM_031471.6(FERMT3):c.616G>A (p.Asp206Asn) SNV Uncertain significance 963292 GRCh37: 11:63978848-63978848
GRCh38: 11:64211376-64211376
48 FERMT3 NM_031471.6(FERMT3):c.1375G>A (p.Asp459Asn) SNV Uncertain significance 1051516 GRCh37: 11:63987971-63987971
GRCh38: 11:64220499-64220499
49 FERMT3 NM_031471.6(FERMT3):c.1465G>A (p.Gly489Ser) SNV Uncertain significance 1051541 GRCh37: 11:63988061-63988061
GRCh38: 11:64220589-64220589
50 FERMT3 NM_031471.6(FERMT3):c.56G>T (p.Arg19Leu) SNV Uncertain significance 1051610 GRCh37: 11:63974892-63974892
GRCh38: 11:64207420-64207420

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
13.61 TLN1 RASGRP2 RASGRP1 RAP1A ITGB2 ITGAD
2
Show member pathways
13.1 TLN1 RASGRP2 RASGRP1 RAPGEF3 RAP1A PLEK
3
Show member pathways
12.6 TLN1 RASGRP2 RAP1A ITGB2
4
Show member pathways
12.51 TLN1 RASGRP2 RASGRP1 RAPGEF3 RAP1A ITGB2
5 12.37 TLN1 RAPGEF3 RAP1A ITGB2 FERMT2 FERMT1
6
Show member pathways
12.24 TLN1 RASGRP1 RAP1A APBB1IP
7
Show member pathways
12.08 TLN1 RAP1A APBB1IP
8 12.04 ITGB2 ITGAD FERMT2
9 12 ITGB2 ITGAD FERMT2
10
Show member pathways
11.86 TLN1 RAP1A APBB1IP
11
Show member pathways
11.73 RASGRP2 RASGRP1 RAP1A
12 11.73 TLN1 RASGRP2 RASGRP1 RAP1A FERMT3 APBB1IP
13 11.54 RASGRP2 RASGRP1 RAP1A ITGB2 ITGAD
14 11.52 TLN1 RAP1A ITGB2 FERMT3 FERMT2 FERMT1
15 11.35 RASGRP2 RAPGEF3 RAP1A
16 11.34 TLN1 RAP1A ITGB2 ITGAD
17
Show member pathways
11.34 RASGRP2 RASGRP1 RAP1A
18
Show member pathways
11.09 RASGRP2 RASGRP1
19
Show member pathways
11.09 TLN1 RASGRP2 RASGRP1 RAPGEF3 RAP1A APBB1IP
20 10.99 RASGRP2 RASGRP1
21 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 membrane GO:0016020 10.26 TLN1 RASGRP2 RASGRP1 RAPGEF3 RAP1A PLEK
2 plasma membrane GO:0005886 10.15 TLN1 RASGRP2 RASGRP1 RAPGEF3 RAP1A PLEK
3 extracellular exosome GO:0070062 10 TLN1 RAPGEF3 RAP1A LAD1 ITGB2 H2AC18
4 cell projection GO:0042995 9.91 TLN1 RASGRP2 FERMT3 FERMT2 FERMT1 APBB1IP
5 cell surface GO:0009986 9.8 TLN1 ITGBL1 ITGB2 ITGAD FERMT2
6 cell junction GO:0030054 9.8 TLN1 RASGRP2 RAP1A FERMT3 FERMT2 FERMT1
7 integrin complex GO:0008305 9.5 ITGBL1 ITGB2 ITGAD
8 ruffle membrane GO:0032587 9.46 TLN1 RASGRP2 PLEK FERMT1
9 focal adhesion GO:0005925 9.43 TLN1 ITGBL1 ITGB2 FERMT2 FERMT1 APBB1IP
10 cell-substrate junction GO:0030055 8.8 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 cell adhesion GO:0007155 9.87 TLN1 ITGBL1 ITGB2 ITGAD FERMT3 FERMT2
2 intracellular signal transduction GO:0035556 9.85 RASGRP2 RASGRP1 RAPGEF3 PLEK
3 positive regulation of GTPase activity GO:0043547 9.8 RASGRP2 RASGRP1 RAPGEF3 RAP1A FERMT2
4 platelet degranulation GO:0002576 9.67 TLN1 PLEK FERMT3
5 small GTPase mediated signal transduction GO:0007264 9.67 RASGRP2 RASGRP1 RAPGEF3 RAP1A
6 platelet aggregation GO:0070527 9.61 TLN1 PLEK FERMT3
7 cortical actin cytoskeleton organization GO:0030866 9.58 TLN1 PLEK
8 leukocyte cell-cell adhesion GO:0007159 9.57 ITGB2 FERMT3
9 heterotypic cell-cell adhesion GO:0034113 9.56 ITGB2 ITGAD
10 cell adhesion mediated by integrin GO:0033627 9.54 ITGBL1 ITGB2
11 natural killer cell activation GO:0030101 9.52 RASGRP1 ITGB2
12 establishment of endothelial barrier GO:0061028 9.51 RAPGEF3 RAP1A
13 Rap protein signal transduction GO:0032486 9.48 RAPGEF3 RAP1A
14 positive regulation of wound healing, spreading of epidermal cells GO:1903691 9.46 FERMT2 FERMT1
15 positive regulation of integrin activation GO:0033625 9.43 PLEK FERMT2 FERMT1
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 actin filament binding GO:0051015 9.43 TLN1 FERMT2 FERMT1
2 guanyl-nucleotide exchange factor activity GO:0005085 9.26 RASGRP2 RASGRP1 RAPGEF3 RAP1A
3 diacylglycerol binding GO:0019992 9.16 RASGRP2 RASGRP1
4 integrin binding GO:0005178 9.1 TLN1 ITGBL1 ITGB2 FERMT3 FERMT2 FERMT1

Sources for Leukocyte Adhesion Deficiency, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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