LAD3
MCID: LKC005
MIFTS: 55

Leukocyte Adhesion Deficiency, Type Iii (LAD3)

Categories: Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases
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Aliases & Classifications for Leukocyte Adhesion Deficiency, Type Iii

MalaCards integrated aliases for Leukocyte Adhesion Deficiency, Type Iii:

Name: Leukocyte Adhesion Deficiency, Type Iii 57 12 38 71
Leukocyte Adhesion Deficiency 3 57 11 73 28 5 14
Leukocyte Adhesion Deficiency 1 Variant 57 11 73
Integrin Activation Deficiency Disease 57 11 73
Lad1v 57 11 73
Lad3 57 11 73
Iadd 57 11 73
Leukocyte Adhesion Deficiency Type Iii 11 58
Leukocyte Adhesion Deficiency-1 Variant 58
Leukocyte Adhesion Deficiency Type 1 71
Lad-1 Variant 58
Lad1 Variant 11
Lad-Iii 58

Characteristics:


Inheritance:

Leukocyte Adhesion Deficiency, Type Iii: Autosomal recessive 57
Leukocyte Adhesion Deficiency Type Iii: Autosomal recessive 58

Prevelance:

Leukocyte Adhesion Deficiency Type Iii: <1/1000000 (Worldwide) 58

Age Of Onset:

Leukocyte Adhesion Deficiency Type Iii: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
delayed wound healing
delayed separation of umbilical cord
can be treated by bone marrow transplantation


Classifications:

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


External Ids:

Disease Ontology 11 DOID:0110912
OMIM® 57 612840
ICD10 via Orphanet 32 D84.8
UMLS via Orphanet 72 C2748536
Orphanet 58 ORPHA99844
MedGen 40 C2748536
UMLS 71 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 08-Dec-2022)

MalaCards based summary: Leukocyte Adhesion Deficiency, Type Iii, also known as leukocyte adhesion deficiency 3, is related to leukocyte adhesion deficiency, type i and combined immunodeficiency, 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 Integrin Pathway. The drugs Ustekinumab and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and eye, and related phenotypes are abnormality of thrombocytes and hepatosplenomegaly

Disease Ontology: 11 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.

Orphanet: 58 Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder.

UniProtKB/Swiss-Prot: 73 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:

30 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of thrombocytes 30 Frequent (33%) HP:0001872
2 hepatosplenomegaly 30 Frequent (33%) HP:0001433
3 recurrent bacterial infections 30 Frequent (33%) HP:0002718
4 epistaxis 30 Occasional (7.5%) HP:0000421
5 osteopetrosis 30 Occasional (7.5%) HP:0011002
6 extramedullary hematopoiesis 30 Very rare (1%) HP:0001978
7 hepatomegaly 30 HP:0002240
8 anemia 30 HP:0001903
9 subcutaneous nodule 30 HP:0001482
10 sepsis 30 HP:0100806
11 petechiae 30 HP:0000967
12 leukocytosis 30 HP:0001974
13 recurrent skin infections 30 HP:0001581
14 pain 30 HP:0012531
15 abnormality of the lymph nodes 30 HP:0002733

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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 homeostasis/metabolism MP:0005376 9.93 APBB1IP FERMT1 FERMT3 ITGAD ITGAL ITGB2
2 immune system MP:0005387 9.77 APBB1IP EZR FBLIM1 FERMT1 FERMT3 ITGAD
3 hematopoietic system MP:0005397 9.44 APBB1IP FBLIM1 FERMT3 ITGAD ITGAL ITGB2

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 Interleukin-12 Phase 1, Phase 2
4 Antibodies, Monoclonal Phase 1, Phase 2
5 Antibodies 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 3 28 FERMT3

Anatomical Context for Leukocyte Adhesion Deficiency, Type Iii

Organs/tissues related to Leukocyte Adhesion Deficiency, Type Iii:

MalaCards : Bone Marrow, Bone, Eye, Endothelial, Neutrophil, Skin
ODiseA: Blood And Bone Marrow

Publications for Leukocyte Adhesion Deficiency, Type Iii

Articles related to Leukocyte Adhesion Deficiency, Type Iii:

(show top 50) (show all 81)
# 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. 62 57 5
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. 62 57 5
20357244 2010
3
LAD-1/variant syndrome is caused by mutations in FERMT3. 62 57 5
19064721 2009
4
Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation. 62 57 5
19234463 2009
5
A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans. 62 57 5
19234460 2009
6
A novel form of integrin dysfunction involving beta1, beta2, and beta3 integrins. 57 5
12511588 2003
7
Hematologically important mutations: leukocyte adhesion deficiency (first update). 62 5
22134107 2012
8
Kindlin-3 is required for beta2 integrin-mediated leukocyte adhesion to endothelial cells. 62 57
19234461 2009
9
Kindlin-3: a new gene involved in the pathogenesis of LAD-III. 62 5
18779414 2008
10
A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets. 62 57
17576779 2007
11
Natural history and early diagnosis of LAD-1/variant syndrome. 62 57
17185466 2007
12
Leukocyte adhesion deficiency type 1 (LAD-1)/variant. A novel immunodeficiency syndrome characterized by dysfunctional beta2 integrins. 62 57
9312170 1997
13
LAD syndromes: FERMT3 kindles the signal. 57
19423742 2009
14
Kindlin-3 is essential for integrin activation and platelet aggregation. 57
18278053 2008
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
Impact of disability diagnosis on dental care use for adults in the United States: Status matters. 62
35527037 2022
17
Progressive skeletal defects caused by Kindlin3 deficiency, a model of autosomal recessive osteopetrosis in humans. 62
35342016 2022
18
Successful allogeneic stem cell transplantation with a reduced-intensity conditioning in a case of leukocyte adhesion deficiency type III. 62
35256330 2022
19
IADD: An integrated Arabic dialect identification dataset. 62
35028349 2022
20
A novel ITGB2 variant with long survival in patients with leukocyte adhesion defect type-I. 62
34333755 2021
21
Intestinal microbiota and antibiotic-associated acute gastrointestinal injury in sepsis mice. 62
33818419 2021
22
Kindlin3-Dependent CD11b/CD18-Integrin Activation Is Required for Potentiation of Neutrophil Cytotoxicity by CD47-SIRPα Checkpoint Disruption. 62
33355195 2021
23
Allogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type I and III. 62
33570653 2021
24
Case Report: A Case of Leukocyte Adhesion Deficiency, Type III Presenting With Impaired Platelet Function, Lymphocytosis and Granulocytosis. 62
34485203 2021
25
Successful hematopoietic stem cell transplant in leukocyte adhesion deficiency type III presenting primarily as malignant infantile osteopetrosis. 62
32092470 2020
26
Leukocyte adhesion defect: Where do we stand circa 2019? 62
32181281 2020
27
Novel variants in FERMT3 and RASGRP2-Genetic linkage in Glanzmann-like bleeding disorders. 62
31724816 2020
28
Clinical and Genetic Spectrum of a Large Cohort of Patients With Leukocyte Adhesion Deficiency Type 1 and 3: A Multicentric Study From India. 62
33391282 2020
29
Leucocyte adhesion deficiency-A multicentre national experience. 62
30412664 2019
30
Beta2-Integrins and Interacting Proteins in Leukocyte Trafficking, Immune Suppression, and Immunodeficiency Disease. 62
30837997 2019
31
A Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family. 62
31068971 2019
32
A β2-Integrin/MRTF-A/SRF Pathway Regulates Dendritic Cell Gene Expression, Adhesion, and Traction Force Generation. 62
31191527 2019
33
Large Q and S waves in lead III on the electrocardiogram distinguish patients with hypertrophic cardiomyopathy from athletes. 62
29680808 2018
34
Long-term management of leukocyte adhesion deficiency type III without hematopoietic stem cell transplantation. 62
29472353 2018
35
Diagnosis of platelet function disorders: A standardized, rational, and modular flow cytometric approach. 62
29227167 2018
36
Hematopoietic stem cell transplantation for the treatment of leukocyte adhesion deficiency type III. 62
28827066 2017
37
An International Genetic Survey of Breed-Specific Diseases in Working Dogs from the United States, Israel, and Poland. 62
29421799 2017
38
Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3. 62
26359933 2016
39
Single-center experience in the management of spontaneous isolated abdominal aortic dissection. 62
26395372 2016
40
The kindlin family: functions, signaling properties and implications for human disease. 62
26729028 2016
41
A new mutation in the KINDLIN-3 gene ablates integrin-dependent leukocyte, platelet, and osteoclast function in a patient with leukocyte adhesion deficiency-III. 62
25854317 2015
42
Kindlin-3-mediated integrin adhesion is dispensable for quiescent but essential for activated hematopoietic stem cells. 62
26282877 2015
43
Optimal T Cell Activation and B Cell Antibody Responses In Vivo Require the Interaction between Leukocyte Function-Associated Antigen-1 and Kindlin-3. 62
25987740 2015
44
Leukocyte adhesion deficiency type III: clinical features and treatment with stem cell transplantation. 62
25072369 2015
45
Diverse functions of kindlin/fermitin proteins during embryonic development in Xenopus laevis. 62
25173804 2014
46
Kindlin-3-independent adhesion of neutrophils from patients with leukocyte adhesion deficiency type III. 62
24342549 2014
47
A new leukocyte hyperadhesion syndrome of delayed cord separation, skin infection, and nephrosis. 62
24344107 2014
48
Kindlin-3 in the immune system. 62
24660120 2014
49
Model the evolution of protein interaction network assisted with protein age. 62
23688824 2013
50
The molecular basis of leukocyte recruitment and its deficiencies. 62
23253941 2013

Variations for Leukocyte Adhesion Deficiency, Type Iii

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

5 (show top 50) (show all 323)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FERMT3 NM_031471.6(FERMT3):c.1671-2A>G SNV Pathogenic
2708 GRCh37: 11:63990518-63990518
GRCh38: 11:64223046-64223046
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.1275del (p.Glu426fs) DEL Pathogenic
30687 rs775138431 GRCh37: 11:63987762-63987762
GRCh38: 11:64220290-64220290
5 FERMT3 NM_031471.6(FERMT3):c.161-2A>C SNV Pathogenic
31528 rs1286499329 GRCh37: 11:63978081-63978081
GRCh38: 11:64210609-64210609
6 FERMT3 NM_031471.6(FERMT3):c.540del (p.Met181fs) DEL Pathogenic
1453537 GRCh37: 11:63978768-63978768
GRCh38: 11:64211296-64211296
7 FERMT3 NM_031471.6(FERMT3):c.664_665del (p.Lys222fs) DEL Pathogenic
643472 rs1591028090 GRCh37: 11:63978896-63978897
GRCh38: 11:64211424-64211425
8 FERMT3 NM_031471.6(FERMT3):c.921del (p.Ser307fs) DEL Pathogenic
1686803 GRCh37: 11:63987022-63987022
GRCh38: 11:64219550-64219550
9 FERMT3 NM_031471.6(FERMT3):c.1029+2T>C SNV Pathogenic
646802 rs1591038507 GRCh37: 11:63987132-63987132
GRCh38: 11:64219660-64219660
10 FERMT3 NM_031471.6(FERMT3):c.814dup (p.Tyr272fs) DUP Pathogenic
652864 rs1591037806 GRCh37: 11:63986749-63986750
GRCh38: 11:64219277-64219278
11 FERMT3 NM_031471.6(FERMT3):c.687G>A (p.Trp229Ter) SNV Pathogenic
2711 rs121918298 GRCh37: 11:63979120-63979120
GRCh38: 11:64211648-64211648
12 FERMT3 NM_031471.6(FERMT3):c.1525C>T (p.Arg509Ter) SNV Pathogenic
2712 rs121918295 GRCh37: 11:63988121-63988121
GRCh38: 11:64220649-64220649
13 FERMT3 NM_031471.6(FERMT3):c.2T>C (p.Met1Thr) SNV Likely Pathogenic
1324393 GRCh37: 11:63974838-63974838
GRCh38: 11:64207366-64207366
14 FERMT3 NM_031471.6(FERMT3):c.1312-2A>C SNV Likely Pathogenic
947116 rs760261349 GRCh37: 11:63987906-63987906
GRCh38: 11:64220434-64220434
15 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
16 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
17 FERMT3 NM_031471.6(FERMT3):c.1516C>A (p.Arg506Ser) SNV Uncertain Significance
1475579 GRCh37: 11:63988112-63988112
GRCh38: 11:64220640-64220640
18 FERMT3 NM_031471.6(FERMT3):c.593T>C (p.Leu198Pro) SNV Uncertain Significance
1703847 GRCh37: 11:63978825-63978825
GRCh38: 11:64211353-64211353
19 FERMT3 NM_031471.6(FERMT3):c.827G>A (p.Arg276Gln) SNV Uncertain Significance
1425216 GRCh37: 11:63986763-63986763
GRCh38: 11:64219291-64219291
20 FERMT3 NM_031471.6(FERMT3):c.790G>C (p.Asp264His) SNV Uncertain Significance
1361645 GRCh37: 11:63986726-63986726
GRCh38: 11:64219254-64219254
21 FERMT3 NM_031471.6(FERMT3):c.74A>G (p.Glu25Gly) SNV Uncertain Significance
1400293 GRCh37: 11:63974910-63974910
GRCh38: 11:64207438-64207438
22 FERMT3 NM_031471.6(FERMT3):c.1867A>G (p.Ser623Gly) SNV Uncertain Significance
1433522 GRCh37: 11:63990839-63990839
GRCh38: 11:64223367-64223367
23 FERMT3 NM_031471.6(FERMT3):c.765C>A (p.Ser255Arg) SNV Uncertain Significance
1461351 GRCh37: 11:63979198-63979198
GRCh38: 11:64211726-64211726
24 FERMT3 NM_031471.6(FERMT3):c.28G>A (p.Asp10Asn) SNV Uncertain Significance
1477670 GRCh37: 11:63974864-63974864
GRCh38: 11:64207392-64207392
25 FERMT3 NM_031471.6(FERMT3):c.500T>C (p.Val167Ala) SNV Uncertain Significance
1441006 GRCh37: 11:63978629-63978629
GRCh38: 11:64211157-64211157
26 FERMT3 NM_031471.6(FERMT3):c.389T>G (p.Leu130Arg) SNV Uncertain Significance
1447014 GRCh37: 11:63978311-63978311
GRCh38: 11:64210839-64210839
27 FERMT3 NM_031471.6(FERMT3):c.599G>A (p.Arg200Gln) SNV Uncertain Significance
1449453 GRCh37: 11:63978831-63978831
GRCh38: 11:64211359-64211359
28 FERMT3 NM_031471.6(FERMT3):c.37G>A (p.Asp13Asn) SNV Uncertain Significance
1483571 GRCh37: 11:63974873-63974873
GRCh38: 11:64207401-64207401
29 FERMT3 NM_031471.6(FERMT3):c.1104C>G (p.Gly368=) SNV Uncertain Significance
1486496 GRCh37: 11:63987387-63987387
GRCh38: 11:64219915-64219915
30 FERMT3 NM_031471.6(FERMT3):c.886G>A (p.Ala296Thr) SNV Uncertain Significance
1473367 GRCh37: 11:63986822-63986822
GRCh38: 11:64219350-64219350
31 FERMT3 NM_031471.6(FERMT3):c.1708G>A (p.Ala570Thr) SNV Uncertain Significance
834563 rs756707894 GRCh37: 11:63990557-63990557
GRCh38: 11:64223085-64223085
32 FERMT3 NM_031471.6(FERMT3):c.1808G>A (p.Arg603Gln) SNV Uncertain Significance
836250 rs751183978 GRCh37: 11:63990657-63990657
GRCh38: 11:64223185-64223185
33 FERMT3 NM_031471.6(FERMT3):c.1520T>G (p.Phe507Cys) SNV Uncertain Significance
842912 rs1267328953 GRCh37: 11:63988116-63988116
GRCh38: 11:64220644-64220644
34 FERMT3 NM_031471.6(FERMT3):c.1448C>T (p.Pro483Leu) SNV Uncertain Significance
843422 rs561391251 GRCh37: 11:63988044-63988044
GRCh38: 11:64220572-64220572
35 FERMT3 NM_031471.6(FERMT3):c.140T>A (p.Leu47Gln) SNV Uncertain Significance
843953 rs1946338724 GRCh37: 11:63974976-63974976
GRCh38: 11:64207504-64207504
36 FERMT3 NM_031471.6(FERMT3):c.25G>A (p.Gly9Arg) SNV Uncertain Significance
844514 rs200509898 GRCh37: 11:63974861-63974861
GRCh38: 11:64207389-64207389
37 FERMT3 NM_031471.6(FERMT3):c.731G>A (p.Gly244Glu) SNV Uncertain Significance
845195 rs776202905 GRCh37: 11:63979164-63979164
GRCh38: 11:64211692-64211692
38 FERMT3 NM_031471.6(FERMT3):c.1504C>T (p.Leu502Phe) SNV Uncertain Significance
855380 rs773617643 GRCh37: 11:63988100-63988100
GRCh38: 11:64220628-64220628
39 FERMT3 NM_031471.6(FERMT3):c.536G>T (p.Arg179Leu) SNV Uncertain Significance
855910 rs778967874 GRCh37: 11:63978768-63978768
GRCh38: 11:64211296-64211296
40 FERMT3 NM_031471.6(FERMT3):c.1363C>T (p.Arg455Cys) SNV Uncertain Significance
857857 rs775462582 GRCh37: 11:63987959-63987959
GRCh38: 11:64220487-64220487
41 FERMT3 NM_031471.6(FERMT3):c.439AAG[1] (p.Lys148del) MICROSAT Uncertain Significance
858157 rs776324976 GRCh37: 11:63978566-63978568
GRCh38: 11:64211094-64211096
42 FERMT3 NM_031471.6(FERMT3):c.1507G>A (p.Val503Ile) SNV Uncertain Significance
859362 rs769458086 GRCh37: 11:63988103-63988103
GRCh38: 11:64220631-64220631
43 FERMT3 NM_031471.6(FERMT3):c.1165G>A (p.Glu389Lys) SNV Uncertain Significance
861209 rs377759054 GRCh37: 11:63987448-63987448
GRCh38: 11:64219976-64219976
44 FERMT3 NM_031471.6(FERMT3):c.635G>A (p.Arg212His) SNV Uncertain Significance
864692 rs200467635 GRCh37: 11:63978867-63978867
GRCh38: 11:64211395-64211395
45 FERMT3 NM_031471.6(FERMT3):c.308G>A (p.Arg103Gln) SNV Uncertain Significance
935214 rs1430138108 GRCh37: 11:63978230-63978230
GRCh38: 11:64210758-64210758
46 FERMT3 NM_031471.6(FERMT3):c.1361G>A (p.Gly454Asp) SNV Uncertain Significance
935325 rs371103107 GRCh37: 11:63987957-63987957
GRCh38: 11:64220485-64220485
47 FERMT3 NM_031471.6(FERMT3):c.967C>G (p.Leu323Val) SNV Uncertain Significance
936549 rs1177180183 GRCh37: 11:63987068-63987068
GRCh38: 11:64219596-64219596
48 FERMT3 NM_031471.6(FERMT3):c.535C>T (p.Arg179Trp) SNV Uncertain Significance
936929 rs754848089 GRCh37: 11:63978767-63978767
GRCh38: 11:64211295-64211295
49 FERMT3 NM_031471.6(FERMT3):c.1501G>A (p.Gly501Ser) SNV Uncertain Significance
938442 rs142543888 GRCh37: 11:63988097-63988097
GRCh38: 11:64220625-64220625
50 FERMT3 NM_031471.6(FERMT3):c.1231G>A (p.Val411Ile) SNV Uncertain Significance
938839 rs779562122 GRCh37: 11:63987718-63987718
GRCh38: 11:64220246-64220246

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 31)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.66 FBLIM1 FERMT2 ITGAD ITGAL ITGB2 RASGRP1
2
Show member pathways
13.24 TLN1 RDX MSN ITGB2 ITGAL ITGAD
3
Show member pathways
13.03 APBB1IP FERMT3 ITGAL ITGB2 PLEK RASGRP1
4
Show member pathways
12.66 TLN1 RASGRP2 ITGB2 ITGAL
5
Show member pathways
12.6 TLN1 ITGB2 ITGAL ITGAD EZR
6
Show member pathways
12.57 ITGB2 ITGAL ITGAD FERMT2
7
Show member pathways
12.29 ITGB2 ITGAL ITGAD FERMT2
8
Show member pathways
12.26 RDX MSN ITGB2 ITGAL EZR
9
Show member pathways
12.1 RDX MSN EZR
10
Show member pathways
12.1 ITGAD ITGAL ITGB2 TLN1
11
Show member pathways
12.05 RASGRP1 ITGB2 ITGAL ITGAD
12
Show member pathways
12.03 ITGB2 ITGAL ITGAD
13 11.99 TLN1 RDX MSN ITGB2 FERMT2 FERMT1
14 11.97 RDX MSN EZR
15
Show member pathways
11.91 ITGB2 ITGAL ITGAD
16 11.8 ITGB2 ITGAL ITGAD EZR
17 11.73 ITGB2 ITGAL EZR
18
Show member pathways
11.69 TLN1 RASGRP2 RASGRP1 APBB1IP
19 11.64 TLN1 ITGB2 FERMT3 FERMT2 FERMT1
20 11.5 PLEK ITGB2 APBB1IP
21 11.42 RASGRP2 RASGRP1 ITGB2 ITGAL ITGAD EZR
22
Show member pathways
11.15 RASGRP2 RASGRP1
23 11.15 ITGAL FERMT3
24
Show member pathways
11.14 RASGRP2 RASGRP1
25 11.12 ITGB2 ITGAL ITGAD
26 11.1 TLN1 ITGB2
27 11.05 RASGRP2 RASGRP1
28 10.84 RDX MSN ITGB2 ITGAL ITGAD EZR
29 10.8 RASGRP2 RASGRP1
30 10.71 TLN1 RDX MSN ITGB2 ITGAL ITGAD
31 10.54 RDX MSN EZR

GO Terms for Leukocyte Adhesion Deficiency, Type Iii

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.62 APBB1IP EZR FERMT1 FERMT2 FERMT3 ITGAD
2 membrane GO:0016021 10.62 ITGAD ITGAL ITGB2 SLC35C1
3 cell surface GO:0009986 10.27 FERMT2 ITGAD ITGAL ITGB2 MSN TLN1
4 cytoskeleton GO:0005856 10.26 TLN1 RDX MSN FERMT2 FERMT1 FBLIM1
5 adherens junction GO:0005912 10.1 TLN1 RDX MSN FERMT2 EZR
6 apical part of cell GO:0045177 10.03 RDX MSN EZR
7 filopodium GO:0030175 10.01 RDX MSN EZR
8 microvillus GO:0005902 9.99 RDX MSN EZR
9 ruffle membrane GO:0032587 9.96 TLN1 RASGRP2 PLEK FERMT1 EZR
10 integrin complex GO:0008305 9.93 ITGAD ITGAL ITGB2
11 uropod GO:0001931 9.85 MSN EZR
12 anchoring junction GO:0070161 9.85 APBB1IP FBLIM1 FERMT1 FERMT2 FERMT3 TLN1
13 cell periphery GO:0071944 9.85 EZR FBLIM1 FERMT1 MSN RDX
14 cell-substrate junction GO:0030055 9.8 FERMT3 FERMT2 FERMT1
15 integrin alphaL-beta2 complex GO:0034687 9.73 ITGB2 ITGAL
16 cell projection GO:0042995 9.7 TLN1 RDX RASGRP2 MSN FERMT3 FERMT2
17 focal adhesion GO:0005925 9.58 TLN1 RDX MSN ITGB2 FERMT2 FERMT1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cell-cell adhesion GO:0098609 10.21 FBLIM1 ITGAD ITGAL ITGB2 TLN1
2 cell adhesion GO:0007155 10.18 TLN1 ITGB2 ITGAL ITGAD FERMT3 FERMT2
3 regulation of cell shape GO:0008360 10.1 RDX MSN ITGB2 FERMT2 FBLIM1 EZR
4 positive regulation of protein catabolic process GO:0045732 10.07 EZR MSN RDX
5 platelet aggregation GO:0070527 10.05 TLN1 PLEK FERMT3
6 cell adhesion mediated by integrin GO:0033627 10.03 ITGAD ITGAL ITGB2
7 establishment of endothelial barrier GO:0061028 9.97 RDX MSN EZR
8 integrin activation GO:0033622 9.95 TLN1 FERMT3 FERMT2
9 positive regulation of integrin activation GO:0033625 9.93 PLEK FERMT2 FERMT1
10 cell-matrix adhesion GO:0007160 9.93 ITGB2 ITGAL ITGAD FERMT3 FERMT2 FERMT1
11 regulation of cell size GO:0008361 9.92 RDX MSN EZR
12 positive regulation of protein localization to early endosome GO:1902966 9.91 EZR MSN RDX
13 protein kinase A signaling GO:0010737 9.9 RDX EZR
14 membrane to membrane docking GO:0022614 9.87 MSN EZR
15 positive regulation of wound healing, spreading of epidermal cells GO:1903691 9.85 FERMT2 FERMT1
16 positive regulation of early endosome to late endosome transport GO:2000643 9.85 RDX MSN EZR
17 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell GO:0002291 9.84 ITGAL APBB1IP
18 gland morphogenesis GO:0022612 9.76 MSN EZR
19 regulation of organelle assembly GO:1902115 9.73 EZR MSN RDX
20 leukocyte cell-cell adhesion GO:0007159 9.65 EZR FERMT3 ITGAL ITGB2 MSN
21 integrin-mediated signaling pathway GO:0007229 9.53 TLN1 PLEK ITGB2 ITGAL 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 lipid binding GO:0008289 9.98 RASGRP2 RASGRP1 FERMT3 FERMT2
2 actin filament binding GO:0051015 9.97 TLN1 FERMT2 FERMT1 EZR
3 actin binding GO:0003779 9.91 EZR FERMT2 MSN RDX TLN1
4 diacylglycerol binding GO:0019992 9.71 RASGRP2 RASGRP1
5 cell adhesion molecule binding GO:0050839 9.65 RDX MSN ITGB2 ITGAL EZR
6 cytoskeletal protein binding GO:0008092 9.5 RDX MSN EZR
7 integrin binding GO:0005178 9.47 TLN1 ITGB2 ITGAL ITGAD FERMT3 FERMT2
8 ICAM-3 receptor activity GO:0030369 9.46 ITGB2 ITGAL

Sources for Leukocyte Adhesion Deficiency, Type Iii

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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