LAD3
MCID: LKC005
MIFTS: 47

Leukocyte Adhesion Deficiency, Type Iii (LAD3) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Blood diseases, Immune diseases

Aliases & Classifications for Leukocyte Adhesion Deficiency, Type Iii

Aliases & Descriptions for Leukocyte Adhesion Deficiency, Type Iii:

Name: Leukocyte Adhesion Deficiency, Type Iii 54 13 69
Leukocyte Adhesion Deficiency Type 1 50 25 69
Leukocyte Adhesion Deficiency 3 12 66 14
Lymphocyte Function-Associated Antigen 1 Immunodeficiency 50 24
Leukocyte Adhesion Deficiency 1 Variant 12 66
Leukocyte Adhesion Deficiency-1 Variant 56 29
Integrin Activation Deficiency Disease 12 66
Leukocyte Adhesion Deficiency Type Iii 12 56
Leukocyte Adhesion Deficiency, Type 3 24 29
Lad1v 12 66
Lad1 24 25
Iadd 12 66
Lad3 12 66
Leukocyte Adhesion Molecule Deficiency Type 1 25
Leukocyte Adhesion Deficiency, Type 1 24
Lad3, Leukocyte Adhesion Deficiency 3 24
Leukocyte Adhesion Deficiency Type I 50
Leucocyte Adhesion Deficiency Type 1 25
Lfa 1 Immunodeficiency 50
Lad-1 Variant 56
Lad1 Variant 12
Lad-Iii 56
Lad 1 50
Lad-I 50
Lad 50

Characteristics:

Orphanet epidemiological data:

56
leukocyte adhesion deficiency type iii
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: early childhood;

HPO:

32
leukocyte adhesion deficiency, type iii:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 612840
Disease Ontology 12 DOID:0110912
Orphanet 56 ORPHA99844
ICD10 via Orphanet 34 D84.8
MedGen 40 C2748536

Summaries for Leukocyte Adhesion Deficiency, Type Iii

OMIM : 54 Leukocyte adhesion deficiency-3 (LAD3), also known as LAD1 variant (LAD1V), is an autosomal recessive disorder... (612840) more...

MalaCards based summary : Leukocyte Adhesion Deficiency, Type Iii, also known as leukocyte adhesion deficiency type 1, is related to microcephalic osteodysplastic primordial dwarfism, type ii and clear cell chondrosarcoma, and has symptoms including splenomegaly, hepatomegaly and anemia. 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 Development Angiotensin activation of ERK. Affiliated tissues include bone and neutrophil, and related phenotypes are Decreased free cholesterol and cardiovascular system

Disease Ontology : 12 A leukocyte adhesion deficiency that has material basis in mutation of the KIND3 gene on chromosome 11q13.1.

Genetics Home Reference : 25 Leukocyte adhesion deficiency type 1 is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as viruses, bacteria, and fungi. Starting from birth, people with leukocyte adhesion deficiency type 1 develop serious bacterial and fungal infections.

UniProtKB/Swiss-Prot : 66 Leukocyte adhesion deficiency 3: A disorder characterized by recurrent bacterial infections without pus formation, leukocytosis and major bleeding disorders.

Related Diseases for Leukocyte Adhesion Deficiency, Type Iii

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

(show all 32)
id Related Disease Score Top Affiliating Genes
1 microcephalic osteodysplastic primordial dwarfism, type ii 10.2 FERMT3 ITGB2 RASGRP2
2 clear cell chondrosarcoma 10.1 ITGA2B TET1
3 leukocyte adhesion deficiency 10.1
4 fibrosarcoma of bone 10.0 APOB HMGCR LPA
5 dentinogenesis imperfecta type 2 10.0 APOB HMGCR
6 albinism, oculocutaneous, type v 10.0 APOA1 APOB LPA
7 hypopyon ulcer 9.9 ITGB2 VCAM1
8 transient retinal arterial occlusion 9.9 APOA1 APOB HMGCR
9 bird fancier's lung 9.9 APOA1 APOB LPA
10 chondrocalcinosis with early-onset osteoarthritis 9.9 APOA1 APOB LPA
11 stone in bladder diverticulum 9.9 APOA1 APOB LPA
12 bleeding disorder, east texas type 9.9 APOA1 APOB HMGCR
13 von willebrand disease, platelet-type 9.9 APOA1 APOB LPA
14 optic nerve neoplasm 9.9 APOA1 APOB LPA
15 neuropathy, hereditary sensory and autonomic, type ia 9.9 APOA1 APOB LPA
16 hypertriglyceridemia 9.9 APOA1 APOB LPA
17 skin squamous cell carcinoma 9.8 APOA1 APOB HMGCR LPA
18 immunodeficiency 18 9.8 APOA1 APOB LPA
19 acute apical periodontitis 9.8 APOA1 APOB HMGCR LPA
20 lipomatosis 9.8 APOA1 APOB HMGCR LPA
21 narcolepsy 6 9.8 APOA1 APOB HMGCR LPA
22 congenital chloride diarrhea 9.7 APOA1 APOB LPA VCAM1
23 macular degeneration, age-related, 12 9.7 APOA1 APOB HMGCR LPA
24 cervix small cell carcinoma 9.7 APOA1 APOB ITGA2B VCAM1
25 pyrimidine metabolic disorder 9.7 APOA1 APOB LPA VCAM1
26 myelophthisic anemia 9.6 APOA1 APOB HMGCR LPA VCAM1
27 autoimmune-related retinopathy and optic neuropathy 9.6 APOA1 APOB HMGCR LPA VCAM1
28 pericarditis 9.6 APOA1 APOB HMGCR LPA VCAM1
29 maturity-onset diabetes of the young 6 9.5 APOA1 APOB HMGCR LPA VCAM1
30 diabetes mellitus, insulin-dependent, 20 9.4 APOA1 APOB LAD1 LPA VCAM1
31 myocardial infarction 9.4 APOA1 APOB F2R HMGCR ITGA2B LPA
32 spinocerebellar ataxia 20 7.9 APOA1 APOB F2R FERMT1 FERMT2 FERMT3

Graphical network of the top 20 diseases related to Leukocyte Adhesion Deficiency, Type Iii:



Diseases related to Leukocyte Adhesion Deficiency, Type Iii

Symptoms & Phenotypes for Leukocyte Adhesion Deficiency, Type Iii

Symptoms by clinical synopsis from OMIM:

612840

Clinical features from OMIM:

612840

Human phenotypes related to Leukocyte Adhesion Deficiency, Type Iii:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hepatomegaly 32 HP:0002240
3 anemia 32 HP:0001903
4 leukocytosis 32 HP:0001974
5 epistaxis 32 HP:0000421
6 petechiae 32 HP:0000967
7 recurrent bacterial infections 32 HP:0002718
8 osteopetrosis 32 HP:0011002

GenomeRNAi Phenotypes related to Leukocyte Adhesion Deficiency, Type Iii according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.92 APOA1 APOB HMGCR LPA

MGI Mouse Phenotypes related to Leukocyte Adhesion Deficiency, Type Iii:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 ITGB2 PROM1 RAP1A RAPGEF3 VCAM1 APOA1
2 cellular MP:0005384 10.03 APOA1 APOB F2R FERMT1 FERMT2 ITGA2B
3 homeostasis/metabolism MP:0005376 9.93 APOB F2R FERMT1 FERMT3 HMGCR ITGA2B
4 immune system MP:0005387 9.7 APOB F2R FERMT1 FERMT3 ITGA2B ITGB2
5 mortality/aging MP:0010768 9.4 APOB F2R FERMT1 FERMT2 FERMT3 HMGCR

Drugs & Therapeutics for Leukocyte Adhesion Deficiency, Type Iii

Interventional clinical trials:


id Name Status NCT ID Phase
1 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341

Search NIH Clinical Center for Leukocyte Adhesion Deficiency, Type Iii

Genetic Tests for Leukocyte Adhesion Deficiency, Type Iii

Genetic tests related to Leukocyte Adhesion Deficiency, Type Iii:

id Genetic test Affiliating Genes
1 Leukocyte Adhesion Deficiency Type 1 29
2 Leukocyte Adhesion Deficiency, Type Iii 29
3 Leukocyte Adhesion Deficiency, Type 1 24 ITGB2
4 Leukocyte Adhesion Deficiency, Type 3 24 FERMT3

Anatomical Context for Leukocyte Adhesion Deficiency, Type Iii

MalaCards organs/tissues related to Leukocyte Adhesion Deficiency, Type Iii:

39
Bone, Neutrophil

Publications for Leukocyte Adhesion Deficiency, Type Iii

Articles related to Leukocyte Adhesion Deficiency, Type Iii:

id Title Authors Year
1
Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3. ( 26359933 )
2015
2
Leukocyte Adhesion Deficiency Type III: Clinical Features and Treatment With Stem Cell Transplantation. ( 25072369 )
2014
3
Kindlin-3-independent adhesion of neutrophils from patients with leukocyte adhesion deficiency type III. ( 24342549 )
2013
4
Mice lacking the signaling molecule CalDAG-GEFI represent a model for leukocyte adhesion deficiency type III. ( 17492052 )
2007

Variations for Leukocyte Adhesion Deficiency, Type Iii

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

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1 FERMT3 FERMT3, IVS13AS, A-G, -2 single nucleotide variant Pathogenic
2 FERMT3 NM_178443.2(FERMT3): c.48G> A (p.Trp16Ter) single nucleotide variant Pathogenic rs121918296 GRCh37 Chromosome 11, 63974884: 63974884
3 FERMT3 NM_178443.2(FERMT3): c.1729C> T (p.Arg577Ter) single nucleotide variant Pathogenic rs121918297 GRCh37 Chromosome 11, 63990566: 63990566
4 FERMT3 NM_178443.2(FERMT3): c.687G> A (p.Trp229Ter) single nucleotide variant Pathogenic rs121918298 GRCh37 Chromosome 11, 63979120: 63979120
5 FERMT3 NM_178443.2(FERMT3): c.1537C> T (p.Arg513Ter) single nucleotide variant Pathogenic rs121918295 GRCh37 Chromosome 11, 63988121: 63988121
6 FERMT3 FERMT3, GLY308ARG single nucleotide variant Pathogenic
7 FERMT3 FERMT3, 1-BP DEL, 1275T deletion Pathogenic
8 FERMT3 FERMT3, IVS2AS, A-C, -2 single nucleotide variant Pathogenic
9 ITGB2 NM_000211.4(ITGB2): c.382G> T (p.Asp128Tyr) single nucleotide variant Pathogenic rs137852615 GRCh37 Chromosome 21, 46323397: 46323397
10 ITGB2 NM_000211.4(ITGB2): c.715G> A (p.Ala239Thr) single nucleotide variant Pathogenic rs179363873 GRCh37 Chromosome 21, 46321433: 46321433
11 ITGB2 NM_000211.4(ITGB2): c.1030G> T (p.Glu344Ter) single nucleotide variant Pathogenic rs483352816 GRCh37 Chromosome 21, 46314939: 46314939
12 ITGB2 NM_000211.4(ITGB2): c.1143delC (p.Tyr382Thrfs) deletion Pathogenic rs483352817 GRCh37 Chromosome 21, 46313400: 46313400
13 ITGB2 NM_000211.4(ITGB2): c.1877+2T> C single nucleotide variant Pathogenic rs483352818 GRCh37 Chromosome 21, 46309189: 46309189
14 ITGB2 NM_000211.4(ITGB2): c.1907delA (p.Lys636Argfs) deletion Pathogenic rs483352819 GRCh37 Chromosome 21, 46308781: 46308781
15 ITGB2 NM_000211.4(ITGB2): c.576dupC (p.Asn193Glnfs) duplication Pathogenic rs483352813 GRCh37 Chromosome 21, 46321572: 46321572
16 ITGB2 NM_000211.4(ITGB2): c.843delC (p.Asn282Thrfs) deletion Pathogenic rs483352815 GRCh37 Chromosome 21, 46320289: 46320289
17 ITGB2 NM_000211.4(ITGB2): c.897+1G> A single nucleotide variant Pathogenic rs201752283 GRCh37 Chromosome 21, 46320234: 46320234
18 ITGB2 NM_000211.4(ITGB2): c.897+1G> T single nucleotide variant Pathogenic rs201752283 GRCh37 Chromosome 21, 46320234: 46320234

Expression for Leukocyte Adhesion Deficiency, Type Iii

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

Pathways for Leukocyte Adhesion Deficiency, Type Iii

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

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.89 APOA1 APOB F2R FERMT3 ITGA2B ITGB2
2
Show member pathways
12.67 F2R ITGA2B ITGB2 RAP1A RAPGEF3 RASGRP2
3
Show member pathways
12.49 F2R ITGA2B ITGB2 RAP1A RAPGEF3 RASGRP2
4 12.22 FERMT1 FERMT2 ITGA2B ITGB2 RAP1A RAPGEF3
5
Show member pathways
11.7 ITGA2B RAP1A RAPGEF3 RASGRP2
6 11.5 ITGA2B ITGB2 RAP1A RASGRP2
7
Show member pathways
11.5 APOA1 APOB HMGCR
8 11.44 F2R FERMT3 ITGA2B RAP1A RASGRP2
9 11.35 RAP1A RAPGEF3 RASGRP2
10 11.31 APOB ITGB2 LPA
11 11.14 FERMT1 FERMT2 FERMT3 ITGB2 RAP1A VCAM1
12 10.7 RAP1A RAPGEF3 RASGRP2

GO Terms for Leukocyte Adhesion Deficiency, Type Iii

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

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.97 APOA1 APOB F2R FERMT1 FERMT2 ITGA2B
2 very-low-density lipoprotein particle GO:0034361 9.46 APOA1 APOB
3 endocytic vesicle lumen GO:0071682 9.43 APOA1 APOB
4 low-density lipoprotein particle GO:0034362 9.4 APOA1 APOB
5 chylomicron GO:0042627 9.37 APOA1 APOB
6 early endosome GO:0005769 9.35 APOA1 APOB F2R RAP1A VCAM1
7 intermediate-density lipoprotein particle GO:0034363 9.26 APOA1 APOB
8 cell surface GO:0009986 9.17 APOA1 F2R FERMT2 ITGA2B ITGB2 PROM1
9 extracellular exosome GO:0070062 10.02 APOA1 APOB FERMT3 ITGA2B ITGB2 LAD1

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.75 APOA1 FERMT3 ITGA2B
2 lipid transport GO:0006869 9.74 APOA1 APOB LPA
3 steroid metabolic process GO:0008202 9.73 APOA1 APOB HMGCR
4 cholesterol metabolic process GO:0008203 9.7 APOA1 APOB HMGCR
5 response to nutrient GO:0007584 9.69 APOA1 HMGCR VCAM1
6 establishment of endothelial barrier GO:0061028 9.55 RAP1A RAPGEF3
7 low-density lipoprotein particle remodeling GO:0034374 9.54 APOB LPA
8 lipoprotein metabolic process GO:0042157 9.5 APOA1 APOB LPA
9 cell adhesion GO:0007155 9.5 FERMT1 FERMT2 FERMT3 ITGA2B ITGB2 NRXN2
10 response to carbohydrate GO:0009743 9.49 APOB RAP1A
11 lipoprotein biosynthetic process GO:0042158 9.48 APOA1 APOB
12 chylomicron assembly GO:0034378 9.46 APOA1 APOB
13 cell-matrix adhesion GO:0007160 9.46 FERMT2 ITGA2B ITGB2 VCAM1
14 Rap protein signal transduction GO:0032486 9.43 RAP1A RAPGEF3
15 leukocyte cell-cell adhesion GO:0007159 9.43 FERMT3 ITGB2 VCAM1
16 chylomicron remodeling GO:0034371 9.4 APOA1 APOB
17 integrin activation GO:0033622 9.37 FERMT2 FERMT3
18 integrin-mediated signaling pathway GO:0007229 9.02 APOA1 FERMT2 FERMT3 ITGA2B ITGB2

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

id Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.46 APOA1 APOB FERMT2 RASGRP2
2 lipid transporter activity GO:0005319 9.32 APOA1 APOB
3 cholesterol transporter activity GO:0017127 9.26 APOA1 APOB
4 cell adhesion molecule binding GO:0050839 9.13 ITGB2 NRXN2 VCAM1
5 Rap guanyl-nucleotide exchange factor activity GO:0017034 8.62 RAP1A RAPGEF3

Sources for Leukocyte Adhesion Deficiency, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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