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 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:

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 ⁵⁶ 612840

ICD10 via Orphanet ³³ D84.8

UMLS via Orphanet ⁷² C2748536

Orphanet ⁵⁸ ORPHA99844

MedGen ⁴¹ C2748536

UMLS ⁷¹ C0398738 C2748536

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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.

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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:

(show all 12)

#	Related Disease	Score	Top Affiliating Genes
1	leukocyte adhesion deficiency, type i	28.2	TLN1 RASGRP2 RASGRP1 ITGB2 ITGAD FERMT3
2	congenital disorder of glycosylation, type iic	11.4
3	bacterial infectious disease	10.0
4	glanzmann thrombasthenia	10.0
5	autosomal recessive disease	10.0
6	osteopetrosis	10.0
7	thrombasthenia	10.0
8	western equine encephalitis	9.7	MHRT H2AC18
9	bleeding disorder, platelet-type, 18	9.6	RASGRP2 RASGRP1 RAPGEF3 RAP1A FERMT3
10	kindler syndrome	9.5	RDX FERMT3 FERMT2 FERMT1
11	cerebral cavernous malformations	9.4	RDX RAPGEF3 RAP1A APBB1IP
12	combined t cell and b cell immunodeficiency	8.9	RASGRP2 ITGB2 ITGAD H2AC18 FERMT3 FERMT2

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:

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

Sources

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

Antibodies

Phase 1, Phase 2

Antibodies, Monoclonal

Phase 1, Phase 2

Dermatologic Agents

Phase 1, Phase 2

Interleukin-12

Phase 1, Phase 2

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

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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

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

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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	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. ⁵⁶ ⁶	McDowall A...Hogg N	20357244	2010
3	LAD-1/variant syndrome is caused by mutations in FERMT3. ⁶ ⁵⁶	Kuijpers TW...Baas F	19064721	2009
4	Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation. ⁶ ⁵⁶	Svensson L...Hogg N	19234463	2009
5	A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans. ⁶ ⁵⁶	Malinin NL...Byzova TV	19234460	2009
6	A novel form of integrin dysfunction involving beta1, beta2, and beta3 integrins. ⁶ ⁵⁶	McDowall A...Hogg N	12511588	2003
7	LAD syndromes: FERMT3 kindles the signal. ⁵⁶	Zimmerman GA	19423742	2009
8	Kindlin-3 is required for beta2 integrin-mediated leukocyte adhesion to endothelial cells. ⁵⁶	Moser M...Fassler R	19234461	2009
9	Kindlin-3: a new gene involved in the pathogenesis of LAD-III. ⁶	Mory A...Alon R	18779414	2008
10	Kindlin-3 is essential for integrin activation and platelet aggregation. ⁵⁶	Moser M...Fassler R	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	Pasvolsky R...Alon R	17576779	2007
12	Natural history and early diagnosis of LAD-1/variant syndrome. ⁵⁶	Kuijpers TW...Roos D	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	Alon R...Etzioni A	12595312	2003
14	Leukocyte adhesion deficiency type 1 (LAD-1)/variant. A novel immunodeficiency syndrome characterized by dysfunctional beta2 integrins. ⁵⁶	Kuijpers TW...Roos D	9312170	1997
15	Successful hematopoietic stem cell transplant in leukocyte adhesion deficiency type III presenting primarily as malignant infantile osteopetrosis. ⁶¹	Essa MF...Alsultan A	32092470	2020
16	Novel variants in FERMT3 and RASGRP2-Genetic linkage in Glanzmann-like bleeding disorders. ⁶¹	Manukjan G...Andres O	31724816	2020
17	Diagnosis of platelet function disorders: A standardized, rational, and modular flow cytometric approach. ⁶¹	Andres O...Schulze H	29227167	2018
18	Long-term management of leukocyte adhesion deficiency type III without hematopoietic stem cell transplantation. ⁶¹	Saultier P...Chambost H	29472353	2018
19	Hematopoietic stem cell transplantation for the treatment of leukocyte adhesion deficiency type III. ⁶¹	Saultier P...Chambost H	28827066	2017
20	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
21	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
22	The kindlin family: functions, signaling properties and implications for human disease. ⁶¹	Rognoni E...Fassler R	26729028	2016
23	Kindlin-3-mediated integrin adhesion is dispensable for quiescent but essential for activated hematopoietic stem cells. ⁶¹	Ruppert R...Fassler R	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	Morrison VL...Fagerholm SC	25987740	2015
25	Leukocyte adhesion deficiency type III: clinical features and treatment with stem cell transplantation. ⁶¹	Stepensky PY...Weintraub M	25072369	2015
26	Kindlin-3-independent adhesion of neutrophils from patients with leukocyte adhesion deficiency type III. ⁶¹	van de Vijver E...Kuijpers TW	24342549	2014
27	Kindlin-3 in the immune system. ⁶¹	Fagerholm SC...Morrison VL	24660120	2014
28	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
29	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 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FERMT3	Fermitin Family Member 3	Protein Coding	1379.26	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)	18779414 19064721 12511588 (more) 20357244 19234463 21441448 19234460
2	RASGRP2	RAS Guanyl Releasing Protein 2	Protein Coding	13.9	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
3	RAP1A	RAP1A, Member Of RAS Oncogene Family	Protein Coding	11.79	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
4	RAPGEF3	Rap Guanine Nucleotide Exchange Factor 3	Protein Coding	10.25	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
5	FERMT1	Fermitin Family Member 1	Protein Coding	7.23	DISEASES inferred ¹⁵
6	FERMT2	Fermitin Family Member 2	Protein Coding	6.86	DISEASES inferred ¹⁵
7	H2AC18	H2A Clustered Histone 18	Protein Coding	6.58	DISEASES inferred ¹⁵ ¹⁵
8	RASGRP1	RAS Guanyl Releasing Protein 1	Protein Coding	6.44	DISEASES inferred ¹⁵
9	TLN1	Talin 1	Protein Coding	5.77	DISEASES inferred ¹⁵
10	ITGB2	Integrin Subunit Beta 2	Protein Coding	5.65	DISEASES inferred ¹⁵
11	APBB1IP	Amyloid Beta Precursor Protein Binding Family B Member 1 Interacting Protein	Protein Coding	5.6	DISEASES inferred ¹⁵
12	MHRT	Myosin Heavy Chain Associated RNA Transcript	RNA Gene	5.51	DISEASES inferred ¹⁵
13	LAD1	Ladinin 1	Protein Coding	5.4	DISEASES inferred ¹⁵
14	PLEK	Pleckstrin	Protein Coding	5.32	DISEASES inferred ¹⁵
15	ITGAD	Integrin Subunit Alpha D	Protein Coding	5.31	DISEASES inferred ¹⁵
16	ITGBL1	Integrin Subunit Beta Like 1	Protein Coding	5.3	DISEASES inferred ¹⁵
17	RDX	Radixin	Protein Coding	5.26	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 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>C	SNV	Pathogenic	646802		11:63987132-63987132	11:64219660-64219660
4	FERMT3	FERMT3, IVS13AS, A-G, -2	SNV	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>C	SNV	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

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 19)

#	Super pathways	Score	Top Affiliating Genes
1	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	13.13	TLN1 RASGRP2 RASGRP1 RAPGEF3 RAP1A PLEK
2	MAPK Erk Pathway ⁶⁶ Show member pathways Actin Dynamics Signaling Pathway ⁶⁶ G Protein coupled Receptors Signaling ⁶⁶	12.71	RASGRP1 RAPGEF3 RAP1A ITGB2 ITGAD FERMT2
3	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.61	TLN1 RASGRP2 RAP1A ITGB2
4	Ras signaling pathway ³⁶ Show member pathways Rap1 signaling pathway ³⁶	12.56	TLN1 RASGRP2 RASGRP1 RAPGEF3 RAP1A ITGB2
5	Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling ⁶⁴ Show member pathways Blood-Brain Barrier and Immune Cell Transmigration: CCL2/MCP-1 Signaling ⁶⁴ Blood-Brain Barrier and Immune Cell Transmigration: ICAM-1/CD54 Signaling ⁶⁴ Blood-Brain Barrier and Immune Cell Transmigration: VEGF Signaling ⁶⁴ Leukocyte transendothelial migration ³⁶	12.45	RDX RAPGEF3 RAP1A ITGB2
6	Cytoskeletal Signaling ⁴	12.35	TLN1 RDX RAPGEF3 RAP1A ITGB2 FERMT2
7	B Cell Receptor Signaling Pathway (sino) ⁶⁶ Show member pathways B Cell Receptor Signaling Pathway ⁶⁶	12.25	TLN1 RASGRP1 RAP1A APBB1IP
8	Oncogenic MAPK signaling ⁶⁵ Show member pathways Signaling by BRAF and RAF fusions ⁶⁵	11.87	TLN1 RAP1A APBB1IP
9	TCR signaling in naive CD4+ T cells ¹ Show member pathways TCR signaling in naive CD8+ T cells ¹	11.75	RASGRP2 RASGRP1 RAP1A
10	Platelet activation ³⁶	11.73	TLN1 RASGRP2 RASGRP1 RAP1A FERMT3 APBB1IP
11	G-protein signaling_RhoA regulation pathway ²²	11.58	RASGRP2 RASGRP1 RAP1A ITGB2 ITGAD
12	Adhesion ⁴	11.52	TLN1 RAP1A ITGB2 FERMT3 FERMT2 FERMT1
13	G-protein signaling_Rap1A regulation pathway ²²	11.39	RASGRP2 RAPGEF3 RAP1A
14	G-protein signaling TC21 regulation pathway ²² Show member pathways G-protein signaling M-RAS regulation pathway ²² Negative feedback regulation of MAPK pathway ⁶⁵	11.37	RASGRP2 RASGRP1 RAP1A
15	Cytoskeleton remodeling_RalA regulation pathway ²²	11.37	TLN1 RDX RAP1A ITGB2 ITGAD
16	Effects of PIP2 hydrolysis ⁶⁵ Show member pathways Arachidonate production from DAG ⁶⁵	11.09	RASGRP2 RASGRP1
17	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
18	G-protein signaling_K-RAS regulation pathway ²²	11.01	RASGRP2 RASGRP1
19	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	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

Sources for Leukocyte Adhesion Deficiency, Type Iii

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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¹⁰ dbSNP

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

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²⁷ GEO DataSets

²⁸ GO

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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

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⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

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⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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:

Symptoms via clinical synopsis from OMIM:

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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