MCID: XLN231
MIFTS: 41

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 6 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 alport syndrome 1, x-linked 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 smooth muscle, and related phenotypes are cardiovascular system and renal/urinary system

Related Diseases for X-Linked Alport Syndrome

Diseases in the Alport Syndrome 1, X-Linked family:

X-Linked Alport Syndrome

Diseases related to X-Linked Alport Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 alport syndrome 1, x-linked 32.5 COL4A5 COL4A4
2 x-linked alport syndrome-diffuse leiomyomatosis 32.4 COL4A6 COL4A5
3 proteinuria, chronic benign 31.3 COL4A5 COL4A4 COL4A3
4 leiomyomatosis 30.5 COL4A6 COL4A5 COL4A4 COL4A3
5 end stage renal disease 30.3 MYH9 COL4A5 COL4A4 COL4A3 CFH
6 brittle bone disorder 30.0 COL4A1 COL1A2 COL1A1
7 goodpasture syndrome 29.9 NID1 COL4A5 COL4A4 COL4A3
8 hematuria, benign familial 29.8 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
9 nephrotic syndrome 29.6 MYH9 COL4A5 COL4A4 COL4A3
10 kidney disease 29.5 MYH9 COL4A5 COL4A4 COL4A3 COL4A1 CFH
11 glomerulonephritis 29.5 NID1 MYH9 COL4A5 COL4A4 COL4A3 CFH
12 alport syndrome 29.0 TMEM164 SNORD96B NID1 MYH9 COL4A6 COL4A5
13 autosomal recessive alport syndrome 28.7 NID1 MYH9 COL4A6 COL4A5 COL4A4 COL4A3
14 branchiootic syndrome 1 10.7
15 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
16 sensorineural hearing loss 10.5
17 intravenous leiomyomatosis 10.4
18 malignant cylindroma 10.3 COL4A5 COL4A1
19 xia-gibbs syndrome 10.3 COL4A5 COL4A4
20 irregular astigmatism 10.2 COL4A4 COL4A3
21 alport syndrome 3, autosomal dominant 10.2 COL4A4 COL4A3
22 x-linked nonsyndromic deafness 10.2 COL4A6 COL4A5
23 corneal dystrophy, posterior polymorphous, 3 10.2 COL4A4 COL4A3
24 rapidly progressive glomerulonephritis 10.2 COL4A4 COL4A3
25 ehlers-danlos/osteogenesis imperfecta syndrome 10.2 COL1A2 COL1A1
26 digenic disease 10.2 COL4A5 COL4A3
27 col1a1/2 osteogenesis imperfecta 10.2 COL1A2 COL1A1
28 high bone mass osteogenesis imperfecta 10.2 COL1A2 COL1A1
29 arthrochalasia ehlers-danlos syndrome 10.2 COL1A2 COL1A1
30 larsen-like syndrome 10.2 COL1A2 COL1A1
31 fibrogenesis imperfecta ossium 10.2 COL1A2 COL1A1
32 ehlers-danlos syndrome, arthrochalasia type, 2 10.1 COL1A2 COL1A1
33 scleroderma, familial progressive 10.1 COL1A2 COL1A1
34 anti-basement membrane glomerulonephritis 10.1 COL4A5 COL4A4 COL4A3
35 tympanosclerosis 10.1 COL4A1 COL1A1
36 autoimmune disease of urogenital tract 10.1 COL4A5 COL4A4 COL4A3
37 diffuse scleroderma 10.1 COL1A2 COL1A1
38 syndromic x-linked intellectual disability cabezas type 10.1 COL1A2 COL1A1
39 osteogenesis imperfecta, type v 10.1 COL1A2 COL1A1
40 ehlers-danlos syndrome, cardiac valvular type 10.1 COL1A2 COL1A1
41 osteogenesis imperfecta, type vii 10.1 COL1A2 COL1A1
42 classic ehlers-danlos syndrome 10.1 COL1A2 COL1A1
43 bruck syndrome 10.1 COL1A2 COL1A1
44 caffey disease 10.1 COL1A2 COL1A1
45 retinoschisis 1, x-linked, juvenile 10.1
46 macular degeneration, age-related, 1 10.1
47 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 10.1
48 corneal dystrophy, posterior polymorphous, 1 10.1
49 corneal dystrophy 10.1
50 retinal drusen 10.1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.76 CFH COL1A1 COL1A2 COL4A1 COL4A3 COL4A5
2 renal/urinary system MP:0005367 9.5 CFH COL1A1 COL4A1 COL4A3 COL4A4 COL4A5
3 vision/eye MP:0005391 9.23 CFH COL1A1 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:

40
Skin, Kidney, Smooth Muscle, Endothelial

Publications for X-Linked Alport Syndrome

Articles related to X-Linked Alport Syndrome:

(show top 50) (show all 274)
# Title Authors PMID Year
1
X-Linked Glomerulopathy Due to COL4A5 Founder Variant. 6 61
29198386 2018
2
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. 61 6
28013382 2017
3
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. 6 61
26581810 2016
4
A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing. 61 6
26866448 2016
5
A Novel Mutation in a Japanese Family with X-linked Alport Syndrome. 61 6
27725546 2016
6
A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome. 61 6
26168235 2015
7
Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 61 6
24522658 2014
8
Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain. 6 61
24304881 2014
9
A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations. 61 6
24337245 2014
10
X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5. 6 61
21332469 2012
11
Genotype-phenotype correlation in X-linked Alport syndrome. 6 61
20378821 2010
12
Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure. 6 61
19965530 2010
13
MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome. 61 6
18616531 2008
14
Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples. 61 6
17660027 2007
15
Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. 6 61
15954103 2005
16
Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts. 61 6
15780079 2005
17
Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome. 61 6
12436246 2002
18
Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. 6 61
12105244 2002
19
Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome. 61 6
11462238 2001
20
Mutational analysis of COL4A5 gene in Korean Alport syndrome. 61 6
10684360 2000
21
Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q. 6 61
9150741 1997
22
Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. 6 61
8940267 1996
23
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. 6 61
8651296 1996
24
Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments. 6 61
1376965 1992
25
Alport syndrome caused by a 5' deletion within the COL4A5 gene. 61 6
1577459 1992
26
Identification of mutations in the COL4A5 collagen gene in Alport syndrome. 6 61
2349482 1990
27
Alport syndrome: impact of digenic inheritance in patients management. 6
27859054 2017
28
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. 6
28570636 2017
29
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
30
Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy. 6
26809805 2016
31
Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders. 6
26934356 2016
32
A COL4A5 mutation with glomerular disease and signs of chronic thrombotic microangiopathy. 6
26613025 2015
33
Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families. 6
25307721 2015
34
Improving mutation screening in familial hematuric nephropathies through next generation sequencing. 6
24854265 2014
35
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. 6
24033287 2014
36
Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome. 6
23732293 2013
37
Mutation c.359_363delGTATTinsATAC in the COL4A5 causes Alport syndrome in a Chinese family. 6
23085274 2013
38
Skin biopsy is a practical approach for the clinical diagnosis and molecular genetic analysis of X-linked Alport's syndrome. 6
22921432 2012
39
Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy. 6
21505094 2011
40
Mutation detection of COL4An gene based on mRNA of peripheral blood lymphocytes and prenatal diagnosis of Alport syndrome in China. 6
21143337 2011
41
Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption. 6
20881942 2011
42
Molecular testing for adult type Alport syndrome. 6
19919694 2009
43
Novel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome. 6
19693995 2009
44
Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria. 6
17396119 2007
45
A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome. 6
16941480 2006
46
Immunohistochemical and molecular genetic evidence for type IV collagen alpha5 chain abnormality in the anterior lenticonus associated with Alport syndrome. 6
12796257 2003
47
Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP. 6
11223851 2001
48
Sporadic case of X-chromosomal Alport syndrome in a consanguineous family. 6
10955921 2000
49
Spectrum of COL4A5 mutations in Finnish Alport syndrome patients. 6
10862091 2000
50
Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing. 6
10561141 1999

Variations for X-Linked Alport Syndrome

ClinVar genetic disease variations for X-Linked Alport Syndrome:

6 (show top 50) (show all 1024)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 2 genes NM_033380.3(COL4A5):c.(?_1)_(81+1_82_1)del (p.?) Deletion Pathogenic 24209 GRCh37:
GRCh38: X:108222855-108534527
2 overlap with 2 genes NM_000495.5(COL4A5):c.(?_-202)_(81_?)del Deletion Pathogenic 24211 GRCh37:
GRCh38: X:108310829-108539745
3 overlap with 2 genes NM_000495.5(COL4A5):c.(?_-202)_(81_?)del Deletion Pathogenic 24212 GRCh37:
GRCh38: X:108438186-108440206
4 overlap with 2 genes NM_000495.5(COL4A5):c.(?_-202)_(81_?)del Deletion Pathogenic 24213 GRCh37:
GRCh38: X:108310829-108539745
5 COL4A5 NP_203699.1:p.? Deletion Pathogenic 24215 GRCh37:
GRCh38:
6 COL4A5 NP_203699.1:p.? Deletion Pathogenic 24216 GRCh37:
GRCh38:
7 COL4A5 NP_203699.1:p.? Deletion Pathogenic 24218 GRCh37:
GRCh38:
8 COL4A5 NP_203699.1:p.? Deletion Pathogenic 24220 GRCh37:
GRCh38:
9 COL4A5 NP_203699.1:p.Ala28_Lys1082dup Duplication Pathogenic 24230 GRCh37:
GRCh38:
10 COL4A5 NM_000495.4(COL4A5):c.82-?_465+?del Deletion Pathogenic 24231 GRCh37:
GRCh38:
11 COL4A5 NM_000495.4(COL4A5):c.82-?_1165+?del Deletion Pathogenic 24232 GRCh37: X:107782976-107829977
GRCh38: X:108539746-108586747
12 COL4A5 NM_000495.4(COL4A5):c.82-?_3246+?del Deletion Pathogenic 24233 GRCh37: X:107782976-107869579
GRCh38: X:108539746-108626349
13 COL4A5 NM_000495.4(COL4A5):c.82-?_3373+?del Deletion Pathogenic 24234 GRCh37: X:107683437-107908736
GRCh38: X:108539746-108655457
14 COL4A5 COL4A5:c.82-?_141+?del (p.Ala28_Lys47del) Deletion Pathogenic 24237 GRCh37: X:107683437-107802293
GRCh38: X:108539746-108539805
15 COL4A5 NM_000495.4(COL4A5):c.142-?_3373+?del Deletion Pathogenic 24242 GRCh37: X:107783036-107908736
GRCh38: X:108559064-108655457
16 COL4A5 NM_000495.4(COL4A5):c.142-?_2677+?del Deletion Pathogenic 24243 GRCh37: X:107783036-107865032
GRCh38: X:108559064-108620426
17 COL4A5 NP_203699.1:p.Gly51fs Insertion Pathogenic 24245 GRCh37:
GRCh38:
18 COL4A5 COL4A5:c.142-?_231+?del(p.Gly48_Lys77del) Deletion Pathogenic 24246 GRCh37: X:107783036-107807111
GRCh38: X:108539806-108563881
19 COL4A5 NM_000495.4(COL4A5):c.232-?_2041+?del Deletion Pathogenic 24251 GRCh37: X:107807112-107844715
GRCh38: X:108559154-108601884
20 COL4A5 NM_000495.4(COL4A5):c.232-?_780+?del Deletion Pathogenic 24252 GRCh37:
GRCh38: X:108563881-108578384
21 COL4A5 NM_000495.4(COL4A5):c.232-?_4510+?del Deletion Pathogenic 24253 GRCh37: X:107802384-107935977
GRCh38: X:108563882-108687694
22 COL4A5 NM_000495.4(COL4A5):c.277-?_609+?del Deletion Pathogenic 24257 GRCh37:
GRCh38:
23 COL4A5 NP_203699.1:p.? SNV Pathogenic 24297 GRCh37:
GRCh38:
24 COL4A5 NP_203699.1:p.? Deletion Pathogenic 24321 GRCh37:
GRCh38:
25 COL4A5 NM_000495.4(COL4A5):c.781-?_1423+?del Deletion Pathogenic 24322 GRCh37:
GRCh38:
26 COL4A5 NM_000495.4(COL4A5):c.937-?_990+?del (p.Gly313_Lys330del) Deletion Pathogenic 24345 GRCh37: X:107826114-107826167
GRCh38: X:108582884-108582937
27 COL4A5 NM_000495.4(COL4A5):c.1033-?_1516+?del Deletion Pathogenic 24359 GRCh37:
GRCh38:
28 COL4A5 NM_000495.4(COL4A5):c.1166-?_1423+?del Deletion Pathogenic 24373 GRCh37:
GRCh38:
29 COL4A5 NM_000495.4(COL4A5):c.1166-?_1516+?del Deletion Pathogenic 24374 GRCh37:
GRCh38:
30 COL4A5 NM_000495.4(COL4A5):c.1166-?_2041+?del Deletion Pathogenic 24375 GRCh37:
GRCh38:
31 COL4A5 1567del9 Deletion Pathogenic 24401 GRCh37:
GRCh38:
32 COL4A5 NP_203699.1:p.? Deletion Pathogenic 24414 GRCh37:
GRCh38:
33 COL4A5 COL4A5, 3-PRIME AND PARTIAL 5-PRIME DELETION Deletion Pathogenic 10460 GRCh37:
GRCh38:
34 COL4A5 COL4A5, 38-KB DEL Deletion Pathogenic 10457 GRCh37:
GRCh38:
35 COL4A5 COL4A5, 450-KB DEL Deletion Pathogenic 10456 GRCh37:
GRCh38:
36 COL4A5 COL4A5, 10-15-KB INS, 40-KB DEL Indel Pathogenic 10455 GRCh37:
GRCh38:
37 COL4A5 C108S SNV Pathogenic 10454 GRCh37:
GRCh38:
38 COL4A5 COL4A5, EX5-10DEL Deletion Pathogenic 10453 GRCh37:
GRCh38:
39 COL4A5 1685del36 Deletion Pathogenic 24417 GRCh37:
GRCh38:
40 COL4A5 NM_000495.4(COL4A5):c.1949-?_3373+?del Deletion Pathogenic 24466 GRCh37: X:107842101-107908736
GRCh38: X:108598871-108665506
41 COL4A5 NM_000495.4(COL4A5):c.2147delG (p.Gly716Alafs) Deletion Pathogenic 24491 rs104886162 GRCh37: X:107846194-107846194
GRCh38: X:108602963-108602963
42 COL4A5 NM_000495.4(COL4A5):c.2147-?_2767+?dup621 Duplication Pathogenic 24492 GRCh37: X:107845220-107865905
GRCh38: X:108601990-108622675
43 COL4A5 2606-2623del Deletion Pathogenic 24517 GRCh37:
GRCh38:
44 COL4A5 COL4A5:c.2510-?_2677+?del (p.Gly837_Gly893delinsGly) Deletion Pathogenic 24534 GRCh37: X:107863489-107863656
GRCh38: X:108620259-108620426
45 COL4A5 NM_000495.4(COL4A5):c.2678-?_3246+?del Deletion Pathogenic 24552 GRCh37:
GRCh38:
46 COL4A5 NP_203699.1:p.? Deletion Pathogenic 24592 GRCh37:
GRCh38:
47 COL4A5 NM_000495.4(COL4A5):c.3247-?_5058+?del Deletion Pathogenic 24610 GRCh37:
GRCh38:
48 COL4A5 NM_000495.4(COL4A5):c.3374-?_3790+?del Deletion Pathogenic 24624 GRCh37: X:107898688-107913457
GRCh38: X:108665507-108668504
49 COL4A5 NM_000495.3(COL4A5):c.3374-?_5058+?del Deletion Pathogenic 24626 GRCh37:
GRCh38:
50 COL4A5 NP_203699.1:p.? Duplication Pathogenic 24627 GRCh37:
GRCh38:

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 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 MYH9 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
2
Show member pathways
13.33 MYH9 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
3
Show member pathways
13.01 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1 COL1A2
4
Show member pathways
12.96 MYH9 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
5
Show member pathways
12.94 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1 COL1A2
6
Show member pathways
12.86 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1 COL1A2
7
Show member pathways
12.79 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1 COL1A2
8 12.72 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
9
Show member pathways
12.66 NID1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
10
Show member pathways
12.6 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1 COL1A2
11
Show member pathways
12.48 MYH9 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
12
Show member pathways
12.11 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1 COL1A2
13 11.84 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
14 11.81 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1 COL1A2
15
Show member pathways
11.8 COL4A1 COL1A2 COL1A1
16 11.75 MYH9 COL4A5 COL4A4 COL4A3
17 11.7 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1 COL1A2
18 11.52 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
19 11.48 COL4A1 COL1A2 COL1A1
20 11.39 COL4A5 COL4A4 COL4A3 COL4A1
21 11.27 COL4A1 COL1A2
22 11.22 COL1A2 COL1A1
23 11.14 COL1A2 COL1A1
24 11.1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1 COL1A2
25 11.01 NID1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
26 10.98 COL1A2 COL1A1
27 10.98 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1 COL1A2

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 space GO:0005615 10.06 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1 COL1A2
2 extracellular region GO:0005576 10.06 NID1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
3 endoplasmic reticulum lumen GO:0005788 9.91 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1 COL1A2
4 collagen-containing extracellular matrix GO:0062023 9.86 NID1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
5 basement membrane GO:0005604 9.8 NID1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
6 extracellular matrix GO:0031012 9.76 NID1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
7 collagen trimer GO:0005581 9.5 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1 COL1A2
8 collagen type I trimer GO:0005584 9.43 COL1A2 COL1A1
9 collagen type IV trimer GO:0005587 9.02 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1

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

# Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.58 MYH9 COL1A2 COL1A1
2 extracellular matrix organization GO:0030198 9.56 NID1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
3 cellular response to amino acid stimulus GO:0071230 9.46 COL4A6 COL4A1 COL1A2 COL1A1
4 neuromuscular junction development GO:0007528 9.43 COL4A5 COL4A1
5 glomerular basement membrane development GO:0032836 9.43 NID1 COL4A4 COL4A3
6 basement membrane organization GO:0071711 9.37 NID1 COL4A1
7 skin morphogenesis GO:0043589 9.32 COL1A2 COL1A1
8 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.02 COL4A6 COL4A5 COL4A3 COL4A1 COL1A1

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 GO:0005201 9.56 NID1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
2 platelet-derived growth factor binding GO:0048407 9.33 COL4A1 COL1A2 COL1A1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.17 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1 COL1A2

Sources for X-Linked Alport Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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