Leukocyte Adhesion Deficiency, Type Iii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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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 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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases Bone diseases Blood diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Other immunodeficiencies

Other specified immunodeficiencies

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

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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.

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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:

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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

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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

Ustekinumab

Approved, Investigational

Phase 1, Phase 2

815610-63-0

Immunoglobulins

Phase 1, Phase 2

Antibodies

Phase 1, Phase 2

Interleukin-12

Phase 1, Phase 2

Antibodies, Monoclonal

Phase 1, Phase 2

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

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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

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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

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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	Robert P...Alessi MC	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	McDowall A...Hogg N	20357244	2010
3	LAD-1/variant syndrome is caused by mutations in FERMT3. ⁵⁷ ⁶	Kuijpers TW...Baas F	19064721	2009
4	A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans. ⁵⁷ ⁶	Malinin NL...Byzova TV	19234460	2009
5	Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation. ⁵⁷ ⁶	Svensson L...Hogg N	19234463	2009
6	A novel form of integrin dysfunction involving beta1, beta2, and beta3 integrins. ⁵⁷ ⁶	McDowall A...Hogg N	12511588	2003
7	Novel aspects of Kindlin-3 function in humans based on a new case of leukocyte adhesion deficiency III. ⁶	Meller J...Byzova TV	22564402	2012
8	Hematologically important mutations: leukocyte adhesion deficiency (first update). ⁶	van de Vijver E...Roos D	22134107	2012
9	LAD syndromes: FERMT3 kindles the signal. ⁵⁷	Zimmerman GA	19423742	2009
10	Kindlin-3 is required for beta2 integrin-mediated leukocyte adhesion to endothelial cells. ⁵⁷	Moser M...Fassler R	19234461	2009
11	Kindlin-3: a new gene involved in the pathogenesis of LAD-III. ⁶	Mory A...Alon R	18779414	2008
12	Kindlin-3 is essential for integrin activation and platelet aggregation. ⁵⁷	Moser M...Fassler R	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	Pasvolsky R...Alon R	17576779	2007
14	Natural history and early diagnosis of LAD-1/variant syndrome. ⁵⁷	Kuijpers TW...Roos D	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	Alon R...Etzioni A	12595312	2003
16	Leukocyte adhesion deficiency type 1 (LAD-1)/variant. A novel immunodeficiency syndrome characterized by dysfunctional beta2 integrins. ⁵⁷	Kuijpers TW...Roos D	9312170	1997
17	Kindlin3-Dependent CD11b/CD18-Integrin Activation Is Required for Potentiation of Neutrophil Cytotoxicity by CD47-SIRPα Checkpoint Disruption. ⁶¹	Bouti P...van den Berg TK	33355195	2021
18	Successful hematopoietic stem cell transplant in leukocyte adhesion deficiency type III presenting primarily as malignant infantile osteopetrosis. ⁶¹	Essa MF...Alsultan A	32092470	2020
19	Novel variants in FERMT3 and RASGRP2-Genetic linkage in Glanzmann-like bleeding disorders. ⁶¹	Manukjan G...Andres O	31724816	2020
20	Diagnosis of platelet function disorders: A standardized, rational, and modular flow cytometric approach. ⁶¹	Andres O...Schulze H	29227167	2018
21	Long-term management of leukocyte adhesion deficiency type III without hematopoietic stem cell transplantation. ⁶¹	Saultier P...Chambost H	29472353	2018
22	Hematopoietic stem cell transplantation for the treatment of leukocyte adhesion deficiency type III. ⁶¹	Saultier P...Chambost H	28827066	2017
23	An International Genetic Survey of Breed-Specific Diseases in Working Dogs from the United States, Israel, and Poland. ⁶¹	Shaffer LG...Ballif BC	29421799	2017
24	Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3. ⁶¹	Suratannon N...Shotelersuk V	26359933	2016
25	The kindlin family: functions, signaling properties and implications for human disease. ⁶¹	Rognoni E...Fassler R	26729028	2016
26	Kindlin-3-mediated integrin adhesion is dispensable for quiescent but essential for activated hematopoietic stem cells. ⁶¹	Ruppert R...Fassler R	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	Morrison VL...Fagerholm SC	25987740	2015
28	Leukocyte adhesion deficiency type III: clinical features and treatment with stem cell transplantation. ⁶¹	Stepensky PY...Weintraub M	25072369	2015
29	Kindlin-3-independent adhesion of neutrophils from patients with leukocyte adhesion deficiency type III. ⁶¹	van de Vijver E...Kuijpers TW	24342549	2014
30	Kindlin-3 in the immune system. ⁶¹	Fagerholm SC...Morrison VL	24660120	2014
31	The β2 integrin-kindlin-3 interaction is essential for T-cell homing but dispensable for T-cell activation in vivo. ⁶¹	Morrison VL...Fagerholm SC	23823319	2013
32	Mice lacking the signaling molecule CalDAG-GEFI represent a model for leukocyte adhesion deficiency type III. ⁶¹	Bergmeier W...Wagner DD	17492052	2007

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Genes for Leukocyte Adhesion Deficiency, Type Iii

Genes related to Leukocyte Adhesion Deficiency, Type Iii (1 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FERMT3	FERM Domain Containing Kindlin 3	Protein Coding	1404.51	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)	19234463 22564402 19064721 (more) 22134107
2	RASGRP2	RAS Guanyl Releasing Protein 2	Protein Coding	14.48	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
3	RAP1A	RAP1A, Member Of RAS Oncogene Family	Protein Coding	12.36	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
4	RAPGEF3	Rap Guanine Nucleotide Exchange Factor 3	Protein Coding	10.83	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
5	FERMT1	FERM Domain Containing Kindlin 1	Protein Coding	7.26	DISEASES inferred ¹⁵
6	FERMT2	FERM Domain Containing Kindlin 2	Protein Coding	6.89	DISEASES inferred ¹⁵
7	H2AC18	H2A Clustered Histone 18	Protein Coding	6.52	DISEASES inferred ¹⁵ ¹⁵
8	RASGRP1	RAS Guanyl Releasing Protein 1	Protein Coding	6.48	DISEASES inferred ¹⁵
9	TLN1	Talin 1	Protein Coding	5.79	DISEASES inferred ¹⁵
10	ITGB2	Integrin Subunit Beta 2	Protein Coding	5.7	DISEASES inferred ¹⁵
11	APBB1IP	Amyloid Beta Precursor Protein Binding Family B Member 1 Interacting Protein	Protein Coding	5.62	DISEASES inferred ¹⁵
12	LAD1	Ladinin 1	Protein Coding	5.6	DISEASES inferred ¹⁵
13	PLEK	Pleckstrin	Protein Coding	5.35	DISEASES inferred ¹⁵
14	ITGAD	Integrin Subunit Alpha D	Protein Coding	5.34	DISEASES inferred ¹⁵
15	ITGBL1	Integrin Subunit Beta Like 1	Protein Coding	5.33	DISEASES inferred ¹⁵

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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

Sources

Expression for Leukocyte Adhesion Deficiency, Type Iii

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

Sources

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	ERK Signaling ⁶³ Show member pathways ILK Signaling ⁶³ MAPK Signaling ⁶³ Molecular Mechanisms of Cancer ⁶³ Rho Family GTPases ⁶³	13.61	TLN1 RASGRP2 RASGRP1 RAP1A ITGB2 ITGAD
2	Response to elevated platelet cytosolic Ca2+ ⁶⁵ Show member pathways Disinhibition of SNARE formation ⁶⁵ Hemostasis ⁶⁵ Platelet activation, signaling and aggregation ⁶⁵ Platelet degranulation ⁶⁵	13.1	TLN1 RASGRP2 RASGRP1 RAPGEF3 RAP1A PLEK
3	Development Angiotensin activation of ERK ²³ Show member pathways Cell adhesion Integrin inside-out signaling ²³ Development ACM2 and ACM4 activation of ERK ²³ Development Angiotensin signaling via PYK2 ²³ Development EDNRB signaling ²³ Development EPO-induced MAPK pathway ²³ Development G-Proteins mediated regulation MARK-ERK signaling ²³ Signal transduction IP3 signaling ²³	12.6	TLN1 RASGRP2 RAP1A ITGB2
4	Ras signaling pathway ³⁶ Show member pathways Rap1 signaling pathway ³⁶	12.51	TLN1 RASGRP2 RASGRP1 RAPGEF3 RAP1A ITGB2
5	Cytoskeletal Signaling ⁴	12.37	TLN1 RAPGEF3 RAP1A ITGB2 FERMT2 FERMT1
6	B Cell Receptor Signaling Pathway (sino) ⁶⁶ Show member pathways T Cell Receptor Signaling Pathway ⁶⁶	12.24	TLN1 RASGRP1 RAP1A APBB1IP
7	Signaling by moderate kinase activity BRAF mutants ⁶⁵ Show member pathways MAP2K and MAPK activation ⁶⁵ Paradoxical activation of RAF signaling by kinase inactive BRAF ⁶⁵ Signaling by high-kinase activity BRAF mutants ⁶⁵ Signaling by RAS mutants ⁶⁵	12.08	TLN1 RAP1A APBB1IP
8	Autophagy Pathway ⁶⁶	12.04	ITGB2 ITGAD FERMT2
9	Actin Dynamics Signaling Pathway ⁶⁶	12	ITGB2 ITGAD FERMT2
10	Oncogenic MAPK signaling ⁶⁵ Show member pathways Signaling by BRAF and RAF fusions ⁶⁵	11.86	TLN1 RAP1A APBB1IP
11	TCR signaling in naive CD4+ T cells ¹ Show member pathways TCR signaling in naive CD8+ T cells ¹	11.73	RASGRP2 RASGRP1 RAP1A
12	Platelet activation ³⁶	11.73	TLN1 RASGRP2 RASGRP1 RAP1A FERMT3 APBB1IP
13	G-protein signaling_RhoA regulation pathway ²³	11.54	RASGRP2 RASGRP1 RAP1A ITGB2 ITGAD
14	Adhesion ⁴	11.52	TLN1 RAP1A ITGB2 FERMT3 FERMT2 FERMT1
15	G-protein signaling_Rap1A regulation pathway ²³	11.35	RASGRP2 RAPGEF3 RAP1A
16	Cytoskeleton remodeling_RalA regulation pathway ²³	11.34	TLN1 RAP1A ITGB2 ITGAD
17	G-protein signaling M-RAS regulation pathway ²³ Show member pathways G-protein signaling TC21 regulation pathway ²³ Negative feedback regulation of MAPK pathway ⁶⁵	11.34	RASGRP2 RASGRP1 RAP1A
18	Effects of PIP2 hydrolysis ⁶⁵ Show member pathways Arachidonate production from DAG ⁶⁵	11.09	RASGRP2 RASGRP1
19	Integrin alphaIIb beta3 signaling ⁶⁵ Show member pathways GRB2-SOS provides linkage to MAPK signaling for Integrins ⁶⁵ p130Cas linkage to MAPK signaling for integrins ⁶⁵ Platelet Aggregation (Plug Formation) ⁶⁵	11.09	TLN1 RASGRP2 RASGRP1 RAPGEF3 RAP1A APBB1IP
20	G-protein signaling_K-RAS regulation pathway ²³	10.99	RASGRP2 RASGRP1
21	Rap1 signalling ⁶⁵	10.76	RASGRP2 RASGRP1 RAPGEF3 RAP1A

Sources

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

Sources for Leukocyte Adhesion Deficiency, Type Iii

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Leukocyte Adhesion Deficiency, Type Iii (LAD3)

Aliases & Classifications for Leukocyte Adhesion Deficiency, Type Iii

MalaCards integrated aliases for Leukocyte Adhesion Deficiency, Type Iii:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

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Summaries for Leukocyte Adhesion Deficiency, Type Iii

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:

Graphical network of the top 20 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:

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UMLS symptoms related to Leukocyte Adhesion Deficiency, Type Iii:

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Drugs & Therapeutics for Leukocyte Adhesion Deficiency, Type Iii

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Expression 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:

GO Terms for Leukocyte Adhesion Deficiency, Type Iii

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

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

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

Sources for Leukocyte Adhesion Deficiency, Type Iii