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

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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:

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

See all MalaCards categories (disease lists)

ICD10: ³²

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 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

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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 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.

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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 24)

#	Related Disease	Score	Top Affiliating Genes
1	leukocyte adhesion deficiency, type i	29.1	TLN1 SLC35C1 RASGRP2 ITGB2 ITGAL ITGAD
2	combined immunodeficiency	28.0	TLN1 SLC35C1 RASGRP2 RASGRP1 ITGB2 ITGAL
3	congenital disorder of glycosylation, type iic	11.1
4	glanzmann thrombasthenia 1	10.2
5	thrombasthenia	10.2
6	exanthem	10.1
7	qualitative platelet defect	10.1
8	osteopetrosis	10.1
9	blood platelet disease	10.1
10	purpura	10.1
11	bleeding disorder, platelet-type, 18	10.1	RASGRP2 RASGRP1 FERMT3
12	immune deficiency disease	10.0
13	chronic venous insufficiency	9.9	ITGB2 ITGAL
14	polyarteritis nodosa	9.8	MSN ITGB2 ITGAL
15	papillon-lefevre syndrome	9.8	ITGB2 ITGAL
16	actinobacillosis	9.7	ITGAL EZR
17	petrous apex meningioma	9.7	RDX MSN EZR
18	deafness, autosomal recessive 24	9.7	RDX MSN EZR
19	immunodeficiency 50	9.6	RDX MSN EZR
20	neurofibromatosis, type ii	9.6	RDX MSN EZR
21	neurofibromatosis	9.6	RDX MSN EZR
22	acoustic neuroma	9.6	RDX MSN EZR
23	neurilemmoma	9.5	RDX MSN EZR
24	kindler syndrome	9.1	RDX MSN FERMT3 FERMT2 FERMT1 FBLIM1

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:

³⁰ (show all 15)

#	Description	HPO 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

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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

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

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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 3 ²⁸	FERMT3

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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

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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	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. ⁶² ⁵⁷ ⁵	McDowall A...Hogg N	20357244	2010
3	LAD-1/variant syndrome is caused by mutations in FERMT3. ⁶² ⁵⁷ ⁵	Kuijpers TW...Baas F	19064721	2009
4	Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation. ⁶² ⁵⁷ ⁵	Svensson L...Hogg N	19234463	2009
5	A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans. ⁶² ⁵⁷ ⁵	Malinin NL...Byzova TV	19234460	2009
6	A novel form of integrin dysfunction involving beta1, beta2, and beta3 integrins. ⁵⁷ ⁵	McDowall A...Hogg N	12511588	2003
7	Hematologically important mutations: leukocyte adhesion deficiency (first update). ⁶² ⁵	van de Vijver E...Roos D	22134107	2012
8	Kindlin-3 is required for beta2 integrin-mediated leukocyte adhesion to endothelial cells. ⁶² ⁵⁷	Moser M...Fassler R	19234461	2009
9	Kindlin-3: a new gene involved in the pathogenesis of LAD-III. ⁶² ⁵	Mory A...Alon R	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	Pasvolsky R...Alon R	17576779	2007
11	Natural history and early diagnosis of LAD-1/variant syndrome. ⁶² ⁵⁷	Kuijpers TW...Roos D	17185466	2007
12	Leukocyte adhesion deficiency type 1 (LAD-1)/variant. A novel immunodeficiency syndrome characterized by dysfunctional beta2 integrins. ⁶² ⁵⁷	Kuijpers TW...Roos D	9312170	1997
13	LAD syndromes: FERMT3 kindles the signal. ⁵⁷	Zimmerman GA	19423742	2009
14	Kindlin-3 is essential for integrin activation and platelet aggregation. ⁵⁷	Moser M...Fassler R	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	Alon R...Etzioni A	12595312	2003
16	Impact of disability diagnosis on dental care use for adults in the United States: Status matters. ⁶²	Chavis SE...Macek M	35527037	2022
17	Progressive skeletal defects caused by Kindlin3 deficiency, a model of autosomal recessive osteopetrosis in humans. ⁶²	Dudiki T...Byzova TV	35342016	2022
18	Successful allogeneic stem cell transplantation with a reduced-intensity conditioning in a case of leukocyte adhesion deficiency type III. ⁶²	Barhoom D...Hamidieh AA	35256330	2022
19	IADD: An integrated Arabic dialect identification dataset. ⁶²	Zahir J	35028349	2022
20	A novel ITGB2 variant with long survival in patients with leukocyte adhesion defect type-I. ⁶²	Celiksoy MH...Gungor S	34333755	2021
21	Intestinal microbiota and antibiotic-associated acute gastrointestinal injury in sepsis mice. ⁶²	Han C...Wang C	33818419	2021
22	Kindlin3-Dependent CD11b/CD18-Integrin Activation Is Required for Potentiation of Neutrophil Cytotoxicity by CD47-SIRPα Checkpoint Disruption. ⁶²	Bouti P...van den Berg TK	33355195	2021
23	Allogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type I and III. ⁶²	Bakhtiar S...Lankester A	33570653	2021
24	Case Report: A Case of Leukocyte Adhesion Deficiency, Type III Presenting With Impaired Platelet Function, Lymphocytosis and Granulocytosis. ⁶²	Yahya AM...Souid AK	34485203	2021
25	Successful hematopoietic stem cell transplant in leukocyte adhesion deficiency type III presenting primarily as malignant infantile osteopetrosis. ⁶²	Essa MF...Alsultan A	32092470	2020
26	Leukocyte adhesion defect: Where do we stand circa 2019? ⁶²	Das J...Rawat A	32181281	2020
27	Novel variants in FERMT3 and RASGRP2-Genetic linkage in Glanzmann-like bleeding disorders. ⁶²	Manukjan G...Andres O	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	Kambli PM...Madkaikar M	33391282	2020
29	Leucocyte adhesion deficiency-A multicentre national experience. ⁶²	Wolach B...Etzioni A	30412664	2019
30	Beta2-Integrins and Interacting Proteins in Leukocyte Trafficking, Immune Suppression, and Immunodeficiency Disease. ⁶²	Fagerholm SC...Uotila LM	30837997	2019
31	A Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family. ⁶²	Shahid S...Shamsi T	31068971	2019
32	A β2-Integrin/MRTF-A/SRF Pathway Regulates Dendritic Cell Gene Expression, Adhesion, and Traction Force Generation. ⁶²	Guenther C...Fagerholm SC	31191527	2019
33	Large Q and S waves in lead III on the electrocardiogram distinguish patients with hypertrophic cardiomyopathy from athletes. ⁶²	Chen AS...Perez MV	29680808	2018
34	Long-term management of leukocyte adhesion deficiency type III without hematopoietic stem cell transplantation. ⁶²	Saultier P...Chambost H	29472353	2018
35	Diagnosis of platelet function disorders: A standardized, rational, and modular flow cytometric approach. ⁶²	Andres O...Schulze H	29227167	2018
36	Hematopoietic stem cell transplantation for the treatment of leukocyte adhesion deficiency type III. ⁶²	Saultier P...Chambost H	28827066	2017
37	An International Genetic Survey of Breed-Specific Diseases in Working Dogs from the United States, Israel, and Poland. ⁶²	Shaffer LG...Ballif BC	29421799	2017
38	Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3. ⁶²	Suratannon N...Shotelersuk V	26359933	2016
39	Single-center experience in the management of spontaneous isolated abdominal aortic dissection. ⁶²	Bockler D...Hyhlik-Durr A	26395372	2016
40	The kindlin family: functions, signaling properties and implications for human disease. ⁶²	Rognoni E...Fassler R	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	Crazzolara R...Schulz AS	25854317	2015
42	Kindlin-3-mediated integrin adhesion is dispensable for quiescent but essential for activated hematopoietic stem cells. ⁶²	Ruppert R...Fassler R	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	Morrison VL...Fagerholm SC	25987740	2015
44	Leukocyte adhesion deficiency type III: clinical features and treatment with stem cell transplantation. ⁶²	Stepensky PY...Weintraub M	25072369	2015
45	Diverse functions of kindlin/fermitin proteins during embryonic development in Xenopus laevis. ⁶²	Rozario T...DeSimone DW	25173804	2014
46	Kindlin-3-independent adhesion of neutrophils from patients with leukocyte adhesion deficiency type III. ⁶²	van de Vijver E...Kuijpers TW	24342549	2014
47	A new leukocyte hyperadhesion syndrome of delayed cord separation, skin infection, and nephrosis. ⁶²	Simpson BN...Abdul-Rahman OA	24344107	2014
48	Kindlin-3 in the immune system. ⁶²	Fagerholm SC...Morrison VL	24660120	2014
49	Model the evolution of protein interaction network assisted with protein age. ⁶²	Luo J...Li G	23688824	2013
50	The molecular basis of leukocyte recruitment and its deficiencies. ⁶²	Schmidt S...Sperandio M	23253941	2013

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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	PubMed IDs
1	FERMT3	FERM Domain Containing Kindlin 3	Protein Coding	1383.89	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	12511588 18779414 19064721 (more) 19234460 19234463 20357244 21441448 22134107
2	FERMT1	FERM Domain Containing Kindlin 1	Protein Coding	7.08	DISEASES inferred ¹⁴
3	RASGRP2	RAS Guanyl Releasing Protein 2	Protein Coding	6.92	DISEASES inferred ¹⁴
4	FERMT2	FERM Domain Containing Kindlin 2	Protein Coding	6.68	DISEASES inferred ¹⁴
5	ITGB2	Integrin Subunit Beta 2	Protein Coding	6.03	DISEASES inferred ¹⁴
6	TLN1	Talin 1	Protein Coding	5.81	DISEASES inferred ¹⁴
7	RASGRP1	RAS Guanyl Releasing Protein 1	Protein Coding	5.74	DISEASES inferred ¹⁴
8	APBB1IP	Amyloid Beta Precursor Protein Binding Family B Member 1 Interacting Protein	Protein Coding	5.69	DISEASES inferred ¹⁴
9	ITGAD	Integrin Subunit Alpha D	Protein Coding	5.67	DISEASES inferred ¹⁴
10	MSN	Moesin	Protein Coding	5.63	DISEASES inferred ¹⁴
11	RDX	Radixin	Protein Coding	5.57	DISEASES inferred ¹⁴
12	FBLIM1	Filamin Binding LIM Protein 1	Protein Coding	5.56	DISEASES inferred ¹⁴
13	PIH1D2	PIH1 Domain Containing 2	Protein Coding	5.41	DISEASES inferred ¹⁴
14	ITGAL	Integrin Subunit Alpha L	Protein Coding	5.37	DISEASES inferred ¹⁴
15	SLC35C1	Solute Carrier Family 35 Member C1	Protein Coding	5.33	DISEASES inferred ¹⁴
16	EZR	Ezrin	Protein Coding	5.25	DISEASES inferred ¹⁴
17	PLEK	Pleckstrin	Protein Coding	5.22	DISEASES inferred ¹⁴

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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

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 31)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.66	FBLIM1 FERMT2 ITGAD ITGAL ITGB2 RASGRP1
2	Integrin Pathway ⁶⁴ Show member pathways FAK1 Signaling ⁶⁴ GnRH Signaling ⁶⁴ Inhibition of Angiogenesis by TSP1 ⁶⁴ Transendothelial Migration of Leukocytes ⁶⁴ UPA-UPAR Pathway ⁶⁴	13.24	TLN1 RDX MSN ITGB2 ITGAL ITGAD
3	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	13.03	APBB1IP FERMT3 ITGAL ITGB2 PLEK RASGRP1
4	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	12.66	TLN1 RASGRP2 ITGB2 ITGAL
5	DREAM Repression and Dynorphin Expression ⁶⁴ Show member pathways Arrhythmogenic right ventricular cardiomyopathy ⁷⁴ BMP Pathway ⁶⁴ Calpain Protease Regulates Cellular Mechanics ⁶⁴ Caspase Cascade ⁶⁴ nNOS Signaling in Skeletal Muscle ⁶⁴ Presynaptic depolarization and calcium channel opening ⁶⁶ TOB in Osteoblast Signaling ⁶⁴	12.6	TLN1 ITGB2 ITGAL ITGAD EZR
6	MAPK-Erk Pathway ⁶⁷ Show member pathways Actin Dynamics Signaling Pathway ⁶⁷ G Protein-coupled Receptors Signaling ⁶⁷	12.57	ITGB2 ITGAL ITGAD FERMT2
7	Autophagy pathway ⁶⁷ Show member pathways AKT Signaling Pathway ⁶⁷	12.29	ITGB2 ITGAL ITGAD FERMT2
8	Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling ⁶⁵ Show member pathways Blood-Brain Barrier and Immune Cell Transmigration: CCL2/MCP-1 Signaling ⁶⁵ Blood-Brain Barrier and Immune Cell Transmigration: ICAM-1/CD54 Signaling ⁶⁵ Blood-Brain Barrier and Immune Cell Transmigration: VEGF Signaling ⁶⁵	12.26	RDX MSN ITGB2 ITGAL EZR
9	L1CAM interactions ⁶⁶ Show member pathways CHL1 interactions ⁶⁶ Neurofascin interactions ⁶⁶ NrCAM interactions ⁶⁶ Recycling pathway of L1 ⁶⁶	12.1	RDX MSN EZR
10	Integrin-mediated cell adhesion ⁷⁴ Show member pathways HGF Pathway ⁶⁴	12.1	ITGAD ITGAL ITGB2 TLN1
11	MAPK Signaling: Mitogens ⁶⁵ Show member pathways Akt Signaling Pathway ⁶⁵	12.05	RASGRP1 ITGB2 ITGAL ITGAD
12	ECM proteoglycans ⁶⁶ Show member pathways Integrin cell surface interactions ⁶⁶ MED and pseudoachondroplasia genes ⁷⁴	12.03	ITGB2 ITGAL ITGAD
13	Cytoskeletal Signaling ³	11.99	TLN1 RDX MSN ITGB2 FERMT2 FERMT1
14	Regulation of actin cytoskeleton ⁷⁴	11.97	RDX MSN EZR
15	Integrin family cell surface interactions ⁶¹ Show member pathways Phagocytosis of Microbes ⁶⁴ Plexin-D1 Signaling ⁶¹	11.91	ITGB2 ITGAL ITGAD
16	Reelin Pathway (Cajal-Retzius cells) ⁶⁴	11.8	ITGB2 ITGAL ITGAD EZR
17	CCL18 signaling pathway ⁷⁴	11.73	ITGB2 ITGAL EZR
18	Integrin signaling ⁶⁶ Show member pathways GRB2:SOS provides linkage to MAPK signaling for Integrins ⁶⁶ p130Cas linkage to MAPK signaling for integrins ⁶⁶ Platelet Aggregation (Plug Formation) ⁶⁶	11.69	TLN1 RASGRP2 RASGRP1 APBB1IP
19	Adhesion ³	11.64	TLN1 ITGB2 FERMT3 FERMT2 FERMT1
20	TYROBP causal network in microglia ⁷⁴	11.5	PLEK ITGB2 APBB1IP
21	G-protein signaling_RhoA regulation pathway ²²	11.42	RASGRP2 RASGRP1 ITGB2 ITGAL ITGAD EZR
22	Regulation of Ras family activation ⁶¹ Show member pathways Activation of RAS in B cells ⁶⁶	11.15	RASGRP2 RASGRP1
23	Leukocyte-intrinsic Hippo pathway functions ⁷⁴	11.15	ITGAL FERMT3
24	Effects of PIP2 hydrolysis ⁶⁶ Show member pathways Arachidonate production from DAG ⁶⁶	11.14	RASGRP2 RASGRP1
25	Beta2 integrin cell surface interactions ⁶¹	11.12	ITGB2 ITGAL ITGAD
26	amb2 Integrin signaling ⁶¹	11.1	TLN1 ITGB2
27	G-protein signaling_K-RAS regulation pathway ²²	11.05	RASGRP2 RASGRP1
28	G-protein signaling_Rap2B regulation pathway ²²	10.84	RDX MSN ITGB2 ITGAL ITGAD EZR
29	Rap1 signalling ⁶⁶	10.8	RASGRP2 RASGRP1
30	Cytoskeleton remodeling_RalA regulation pathway ²²	10.71	TLN1 RDX MSN ITGB2 ITGAL ITGAD
31	PtdIns(4,5)P2 in cytokinesis pathway ⁷⁴	10.54	RDX MSN EZR

Sources

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

Sources for Leukocyte Adhesion Deficiency, Type Iii

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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	Data Licensing For inquiries, contact: [email protected]
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Leukocyte Adhesion Deficiency, Type Iii (LAD3)

Aliases & Classifications for Leukocyte Adhesion Deficiency, Type Iii

MalaCards integrated aliases for Leukocyte Adhesion Deficiency, Type Iii:

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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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Genetic Tests for Leukocyte Adhesion Deficiency, Type Iii

Genetic tests related to Leukocyte Adhesion Deficiency, Type Iii:

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Variations 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