MCID: XLN231
MIFTS: 33

X-Linked Alport Syndrome

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for X-Linked Alport Syndrome

MalaCards integrated aliases for X-Linked Alport Syndrome:

Name: X-Linked Alport Syndrome 12 15
Nephropathy and Deafness, X-Linked 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110034

Summaries for X-Linked Alport Syndrome

Disease Ontology : 12 An Alport syndrome that has material basis in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5).

MalaCards based summary : X-Linked Alport Syndrome, also known as nephropathy and deafness, x-linked, is related to leiomyomatosis and x-linked alport syndrome-diffuse leiomyomatosis. An important gene associated with X-Linked Alport Syndrome is COL4A5 (Collagen Type IV Alpha 5 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include skin, kidney and testes, and related phenotypes are immune system and renal/urinary system

Related Diseases for X-Linked Alport Syndrome

Graphical network of the top 20 diseases related to X-Linked Alport Syndrome:



Diseases related to X-Linked Alport Syndrome

Symptoms & Phenotypes for X-Linked Alport Syndrome

MGI Mouse Phenotypes related to X-Linked Alport Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.55 CFH COL4A1 COL4A3 COL4A4 COL4A5
2 renal/urinary system MP:0005367 9.35 CFH COL4A1 COL4A3 COL4A4 COL4A5
3 vision/eye MP:0005391 9.02 CFH COL4A1 COL4A3 COL4A4 COL4A5

Drugs & Therapeutics for X-Linked Alport Syndrome

Search Clinical Trials , NIH Clinical Center for X-Linked Alport Syndrome

Genetic Tests for X-Linked Alport Syndrome

Anatomical Context for X-Linked Alport Syndrome

MalaCards organs/tissues related to X-Linked Alport Syndrome:

42
Skin, Kidney, Testes, Smooth Muscle

Publications for X-Linked Alport Syndrome

Articles related to X-Linked Alport Syndrome:

(show top 50) (show all 82)
# Title Authors Year
1
Establishment of X-linked Alport syndrome model mice with a Col4a5 R471X mutation. ( 30582011 )
2019
2
Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X-linked Alport syndrome. ( 30883042 )
2019
3
A family case of X-linked Alport syndrome patients with a novel variant in COL4A5. ( 30293132 )
2018
4
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males. ( 30577881 )
2018
5
Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome. ( 29959198 )
2018
6
Germline mosaicism is a pitfall in the diagnosis of "sporadic" X-linked Alport syndrome. ( 30062677 )
2018
7
The Chemical Chaperone, PBA, Reduces ER Stress and Autophagy and Increases Collagen IV α5 Expression in Cultured Fibroblasts From Men With X-Linked Alport Syndrome and Missense Mutations. ( 29142990 )
2017
8
Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS). ( 29150092 )
2017
9
Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome. ( 29270492 )
2017
10
A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing. ( 26866448 )
2016
11
Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome. ( 28013382 )
2016
12
Female X-linked Alport syndrome with somatic mosaicism. ( 27796712 )
2016
13
A Novel Mutation in a Japanese Family with X-linked Alport Syndrome. ( 27725546 )
2016
14
X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene. ( 26581810 )
2015
15
Phenotypic heterogeneity in females with X-linked Alport syndrome. ( 26249550 )
2015
16
A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome. ( 26168235 )
2015
17
Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome. ( 26014433 )
2015
18
Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. ( 24522658 )
2014
19
X-Linked Alport Syndrome Caused by Splicing Mutations in COL4A5. ( 25183659 )
2014
20
Clinical and genetic features in autosomal recessive and X-linked Alport syndrome. ( 24178893 )
2013
21
Temporal macular thinning associated with X-linked Alport syndrome. ( 23572034 )
2013
22
Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome. ( 23371956 )
2013
23
Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV I+5 chain. ( 24304881 )
2013
24
The variable course of women with X-linked Alport Syndrome. ( 24286007 )
2013
25
A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations. ( 24337245 )
2013
26
Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5. ( 22335431 )
2012
27
COL4A5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH9. ( 23144074 )
2012
28
X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5. ( 21332469 )
2012
29
Attitudes toward genetic diagnosis and prenatal diagnosis of X-linked Alport syndrome in China. ( 22239175 )
2012
30
Bilateral macular retinoschisis in a patient with x-linked alport syndrome. ( 25390697 )
2012
31
The value of clinical criteria in identifying patients with X-linked Alport syndrome. ( 20884774 )
2011
32
X-inactivation modifies disease severity in female carriers of murine X-linked Alport syndrome. ( 19854849 )
2010
33
Genotype-phenotype correlation in X-linked Alport syndrome. ( 20378821 )
2010
34
The dot-and-fleck retinopathy of X linked Alport syndrome is independent of complement factor H (CFH) gene polymorphisms. ( 19019939 )
2009
35
MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome. ( 18616531 )
2008
36
The use of ocular abnormalities to diagnose X-linked Alport syndrome in children. ( 18343956 )
2008
37
[Prenatal diagnosis and genetic counseling of X-linked Alport syndrome in China]. ( 17953801 )
2007
38
Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples. ( 17660027 )
2007
39
Gene expression analysis in a canine model of X-linked Alport syndrome. ( 16964446 )
2006
40
Tissue-specific distribution of an alternatively spliced COL4A5 isoform and non-random X chromosome inactivation reflect phenotypic variation in heterozygous X-linked Alport syndrome. ( 16517570 )
2006
41
Resolution of proteinuria in a patient with X-linked Alport syndrome treated with cyclosporine. ( 17130107 )
2006
42
Dysregulation of renal MMP-3 and MMP-7 in canine X-linked Alport syndrome. ( 15782307 )
2005
43
Male-to-male transmission of X-linked Alport syndrome in a boy with a 47,XXY karyotype. ( 15957001 )
2005
44
[Detection of a novel mutation in COL4A5 gene from a Chinese family with X-linked alport syndrome]. ( 15651669 )
2004
45
Mouse model of X-linked Alport syndrome. ( 15153557 )
2004
46
Differential diagnosis between X-linked Alport syndrome and thin basement membrane nephropathy. ( 15327434 )
2004
47
Genetic cause of X-linked Alport syndrome in a family of domestic dogs. ( 12879362 )
2003
48
Confocal microscopy of the skin in the diagnosis of X-linked Alport syndrome. ( 12839584 )
2003
49
X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study. ( 14514738 )
2003
50
Increased expression of MMP-2, MMP-9 (type IV collagenases/gelatinases), and MT1-MMP in canine X-linked Alport syndrome (XLAS). ( 12675849 )
2003

Variations for X-Linked Alport Syndrome

Expression for X-Linked Alport Syndrome

Search GEO for disease gene expression data for X-Linked Alport Syndrome.

Pathways for X-Linked Alport Syndrome

Pathways related to X-Linked Alport Syndrome according to GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.47 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
2
Show member pathways
13.13 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
3
Show member pathways
13.12 COL4A1 COL4A3 COL4A4 COL4A5
4
Show member pathways
12.87 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
5
Show member pathways
12.84 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
6
Show member pathways
12.84 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
7
Show member pathways
12.79 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
8
Show member pathways
12.71 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
9 12.63 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
10
Show member pathways
12.61 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
11
Show member pathways
12.53 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
12
Show member pathways
12.41 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
13
Show member pathways
12.04 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
14
Show member pathways
11.98 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
15 11.77 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
16 11.7 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
17 11.64 COL4A3 COL4A4 COL4A5
18 11.62 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
19 11.34 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
20 11.3 COL4A1 COL4A3 COL4A4 COL4A5
21 11.04 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
22 10.83 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
23 10.62 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6

GO Terms for X-Linked Alport Syndrome

Cellular components related to X-Linked Alport Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.91 CFH COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
2 extracellular space GO:0005615 9.85 CFH COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
3 extracellular matrix GO:0031012 9.72 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
4 collagen-containing extracellular matrix GO:0062023 9.71 COL4A1 COL4A3 COL4A5 COL4A6
5 endoplasmic reticulum lumen GO:0005788 9.65 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
6 basement membrane GO:0005604 9.55 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
7 collagen trimer GO:0005581 9.35 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
8 collagen type IV trimer GO:0005587 9.02 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6

Biological processes related to X-Linked Alport Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.35 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
2 cellular response to amino acid stimulus GO:0071230 9.32 COL4A1 COL4A6
3 neuromuscular junction development GO:0007528 9.26 COL4A1 COL4A5
4 glomerular basement membrane development GO:0032836 9.16 COL4A3 COL4A4
5 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.92 COL4A1 COL4A3 COL4A5 COL4A6

Molecular functions related to X-Linked Alport Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.26 COL4A1 COL4A3 COL4A5 COL4A6
2 extracellular matrix structural constituent GO:0005201 9.02 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6

Sources for X-Linked Alport Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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