MCID: ALP004
MIFTS: 55

Alport Syndrome malady

Eye, Nephrological, Ear, Fetal, Genetic categories

Summaries for Alport Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

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NIH Rare Diseases:43 Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. people with alport syndrome also frequently develop sensorineural hearing loss in late childhood or early adolescence. the eye abnormalities seen in this condition seldom lead to vision loss. in 80% of cases, alport syndrome is inherited in an x-linked manner and is caused by mutations in the col4a5 gene. in the remaining cases, it may be inherited in either an autosomal recessive or autosomal dominant manner and caused by mutations in the col4a3 or col4a4 genes. treatment may include use of a hearing aid; hemodialysis and peritoneal dialysis to treat those with end-stage renal failure; and kidney transplantation. last updated: 8/1/2013

MalaCards: Alport Syndrome, also known as hemorrhagic hereditary nephritis, is related to autosomal recessive alport syndrome and autosomal dominant alport syndrome. An important gene associated with Alport Syndrome is COL4A5 (collagen, type IV, alpha 5), and among its related pathways are NCAM signaling for neurite out-growth and Signaling by FGFR. The compounds arresten and adalimumab have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and kidney, and related mouse phenotypes are renal/urinary system and mortality/aging.

Disease Ontology:8 A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.

Genetics Home Reference:21 Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.

Wikipedia:64 Alport syndrome or hereditary nephritis is a genetic disorder characterized by glomerulonephritis,... more...

Description from OMIM:47 301050,104200,203780

Aliases & Classifications for Alport Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 57SNOMED-CT, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Genetic
Anatomical: Eye, Nephrological, Ear


Characteristics (Orphanet epidemiological data):

49
x-linked alport syndrome:
Inheritance: X-linked dominant; Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

alport syndrome 8 9 43 22 21 47 10 61
hemorrhagic hereditary nephritis 43 21 61
alport syndrome, x-linked 43 45 61
congenital hereditary hematuria 43 21
hemorrhagic familial nephritis 43 21
hereditary nephritis 8 21
hereditary familial congenital hemorrhagic nephritis 21
hematuria-nephropathy-deafness syndrome 21
hereditary interstitial pyelonephritis 21
hematuric hereditary nephritis 21
hereditary hematuria syndrome 21
x-linked alport syndrome 49
alports syndrome 45


External Ids:

Disease Ontology8 DOID:10983
MeSH35 D009394
SNOMED-CT57 57333009, 399340005
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet62 C1567742

Related Diseases for Alport Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Alport Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1autosomal recessive alport syndrome31.2COL4A4, COL4A3
2autosomal dominant alport syndrome31.1COL4A3, COL4A4
3nephritis30.8MYH9, COL4A5, COL4A4, COL4A3, CD79A
4thin basement membrane nephropathy30.7COL4A3, COL4A4
5mental retardation30.4COL4A5, ACSL4
6goodpasture syndrome30.0COL4A3BP, COL4A3
7n syndrome10.9
8kid syndrome10.6
9micro syndrome10.4
10char syndrome10.4
11good syndrome10.3
12adult syndrome10.3
13leiomyomatosis, esophageal and vulval, with nephropathy10.3
14young syndrome10.3
15alport syndrome and thin basement membrane nephropathy10.2
16alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis10.2
17alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis10.1
18beta thalassemia10.0
19thalassemia10.0
20dyschondrosteosis nephritis10.0
21epidermolysis bullosa, pretibial10.0
22thalassemia minor10.0
23diabetic nephropathy10.0
24neurofibromatosis10.0
25membranoproliferative glomerulonephritis10.0
26klinefelter's syndrome10.0
27smooth muscle tumor10.0
28frasier syndrome10.0
29balkan hemorrhagic fever10.0
30west syndrome10.0
31alpha chain disease10.0
32macular holes10.0
33polycystic kidney disease10.0
34nephrocalcinosis10.0
35balkan nephropathy10.0
36erythropoietic protoporphyria10.0
37horner's syndrome10.0
38autosomal dominant disease10.0
39ventricular septal defect10.0
403-m syndrome10.0
41bod syndrome10.0
42myh9 related thrombocytopenia10.0
43hemorrhagic fever10.0
44vitreoretinal degeneration10.0
45sebastian syndrome10.0
46hypotonia10.0
47herpes simplex virus keratitis10.0
48leiomyomatosis10.0COL4A5, COL4A6
49corneal ectasia10.0VSX1
50keratoconus10.0VSX1, MMP3

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



Diseases related to alport syndrome

Clinical Features for Alport Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

301050,104200,203780

Clinical synopsis from OMIM:

301050

Drugs & Therapeutics for Alport Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Alport Syndrome

Drug clinical trials:

Search ClinicalTrials for Alport Syndrome

Search NIH Clinical Center for Alport Syndrome

Search CenterWatch for Alport Syndrome

Genetic Tests for Alport Syndrome

Sources:
22GTR
See all sources

Genetic tests related to Alport Syndrome:

id Genetic test Affiliating Genes
1 Alport Syndrome22

Anatomical Context for Alport Syndrome

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Alport Syndrome:

33
Skin, Brain, Kidney, Bone marrow, Smooth muscle, T cells, B lymphoblasts, B cells, Fetal brain

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Alport Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 KidneyGlomerular Basement Membrane  Affected by disease

Animal Models for Alport Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Alport Syndrome

Sources:
51PubMed
See all sources

Articles related to Alport Syndrome:

(show top 50)    (show all 482)
idTitleAuthorsYear
1
The variable course of women with X-linked Alport Syndrome. (24286007)
2013
2
Deciphering Alport syndrome. (23538369)
2013
3
Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. (23349312)
2013
4
Alport syndrome: About time--treating children with Alport syndrome. (22641079)
2012
5
Attitudes toward genetic diagnosis and prenatal diagnosis of X-linked Alport syndrome in China. (22239175)
2012
6
Pulmonary outcome of Alport syndrome with familial diffuse esophageal leiomyomatosis. (21284097)
2011
7
Bilateral vocal cord paralysis in a patient with chronic renal failure associated with Alport syndrome. (20221644)
2010
8
Ocular manifestations of Alport syndrome. (22553540)
2010
9
Stem cell therapies benefit Alport syndrome. (19833902)
2009
10
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. (19129241)
2009
11
A novel COL4A5 splicing mutation causing Alport syndrome in a Chinese family]. (19065523)
2008
12
Spectrum of collagen type IV nephropathies: from thin basement membrane nephropathy to Alport syndrome. (20804103)
2008
13
Prenatal diagnosis and genetic counseling of a Chinese Alport syndrome kindred. (18373399)
2008
14
Alport syndrome with recurrent herpes simplex virus keratitis. (18043194)
2007
15
Glomerular morphometry in biopsy evaluation of minimal change disease, membranous glomerulonephritis, thin basement membrane disease and Alport's syndrome. (17672378)
2007
16
Alport syndrome and the X chromosome: implications of a diagnosis of Alport syndrome in females. (17400558)
2007
17
Discordance between skin biopsy and kidney biopsy in an X-linked carrier of Alport syndrome. (17294221)
2007
18
Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. (15954103)
2005
19
From the molecular genetics of Alport's syndrome to principles of organo-protection in chronic renal diseases]. (16453099)
2005
20
Diagnosis of Alport syndrome. (15327435)
2004
21
Epidermal basement membrane alpha 5(IV) expression in females with Alport syndrome and severity of renal disease. (14531812)
2003
22
Alport syndrome-like basement membrane changes in Frasier syndrome: an electron microscopy study. (12722046)
2003
23
Genetic cause of X-linked Alport syndrome in a family of domestic dogs. (12879362)
2003
24
Alport Syndrome and Thin Basement Membrane Nephropathy: Diseases Arising from Mutations in Type IV Collagen. (17657099)
2003
25
Cyclosporine a slows the progressive renal disease of alport syndrome (X-linked hereditary nephritis): results from a canine model. (12595505)
2003
26
Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR). (12011158)
2002
27
Animal models of Alport syndrome. (12147777)
2002
28
Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome. (11318937)
2001
29
Familial hematuric syndromes--Alport syndrome, thin glomerular basement membrane disease and Fechtner/Epstein syndromes. (11688406)
2001
30
Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties. (11135492)
2000
31
Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys. (10854213)
2000
32
Gelatinase B (MMP-9) is not essential in the normal kidney and does not influence progression of renal disease in a mouse model of Alport syndrome. (10880400)
2000
33
Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients. (10563487)
1999
34
Detection of mutations in COL4A5 in patients with Alport syndrome. (10094548)
1999
35
A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome. (9934986)
1999
36
Alport syndrome with a peculiar pattern of distribution of the alpha3-alpha6 chains of type IV collagen in renal basement membrane. (9730729)
1998
37
Spontaneous anterior capsular rupture in Alport syndrome. (9614538)
1998
38
A mutation causing Alport syndrome with tardive hearing loss is common in the western United States. (8651292)
1996
39
Molecular and functional defects in kidneys of mice lacking collagen alpha 3(IV): implications for Alport syndrome. (8947561)
1996
40
Evolution of glomerular basement membrane lesions in a male patient with Alport syndrome: ultrastructural and morphometric study. (8918631)
1996
41
Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: a study of 250 patients with hematuria and suspected of having Alport syndrome. (8738805)
1996
42
Expression of type IV collagen alpha 3 and alpha 4 chain mRNA in X-linked Alport syndrome. (8793804)
1996
43
A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome. (7731166)
1995
44
Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. (7987396)
1994
45
Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome. (8406498)
1993
46
Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome. (1635357)
1992
47
Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome. (1783380)
1991
48
Cloning of Alport syndrome gene. (1930913)
1991
49
Genetic heterogeneity of Alport syndrome. (4010153)
1985
50
The genetics of the Alport syndrome. (4470916)
1974

Genetic Variations for Alport Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Alport Syndrome:

63 (show all 144)
id Symbol AA change Variation SNP ID
1COL4A5p.Gly54AspVAR_001914
2COL4A5p.Gly129GluVAR_001915
3COL4A5p.Gly129ValVAR_001916
4COL4A5p.Gly174ArgVAR_001917
5COL4A5p.Gly177ArgVAR_001918
6COL4A5p.Gly216ArgVAR_001919
7COL4A5p.Gly219SerVAR_001920
8COL4A5p.Gly289ValVAR_001921
9COL4A5p.Gly292ValVAR_001922
10COL4A5p.Gly325GluVAR_001923
11COL4A5p.Gly325ArgVAR_001924
12COL4A5p.Gly365GluVAR_001925
13COL4A5p.Gly371GluVAR_001927
14COL4A5p.Gly374AlaVAR_001928
15COL4A5p.Gly383AspVAR_001929
16COL4A5p.Gly400GluVAR_001930
17COL4A5p.Gly406ValVAR_001931
18COL4A5p.Gly409AspVAR_001932
19COL4A5p.Gly466GluVAR_001936
20COL4A5p.Gly494AspVAR_001937
21COL4A5p.Gly521CysVAR_001939
22COL4A5p.Gly521SerVAR_001940
23COL4A5p.Gly567AlaVAR_001941
24COL4A5p.Gly609ValVAR_001942
25COL4A5p.Gly638ValVAR_001943
26COL4A5p.Gly638AlaVAR_001944
27COL4A5p.Gly653ArgVAR_001945
28COL4A5p.Gly684ValVAR_001947
29COL4A5p.Gly740GluVAR_001948
30COL4A5p.Gly772AspVAR_001949
31COL4A5p.Gly796ArgVAR_001950
32COL4A5p.Gly852ArgVAR_001951
33COL4A5p.Gly866GluVAR_001952
34COL4A5p.Gly869ArgVAR_001953
35COL4A5p.Gly872ArgVAR_001954
36COL4A5p.Gly1104ValVAR_001956
37COL4A5p.Gly1143AspVAR_001957
38COL4A5p.Gly1143SerVAR_001958
39COL4A5p.Gly1182ArgVAR_001959
40COL4A5p.Gly1241CysVAR_001960
41COL4A5p.Gly1270SerVAR_001961
42COL4A5p.Gly1379ValVAR_001962
43COL4A5p.Arg1410CysVAR_001963
44COL4A5p.Gly1421TrpVAR_001964
45COL4A5p.Arg1422CysVAR_001965
46COL4A5p.Gly1451SerVAR_001966
47COL4A5p.Ala1498AspVAR_001967
48COL4A5p.Pro1517ThrVAR_001968
49COL4A5p.Trp1538SerVAR_001969
50COL4A5p.Arg1563GlnVAR_001970
51COL4A5p.Cys1564SerVAR_001971
52COL4A5p.Gly1596AspVAR_001972
53COL4A5p.Leu1649ArgVAR_001973
54COL4A5p.Arg1677GlnVAR_001974
55COL4A5p.Gly114SerVAR_007991
56COL4A5p.Gly331ValVAR_007992
57COL4A5p.Gly472ArgVAR_007993
58COL4A5p.Gly545ArgVAR_007994
59COL4A5p.Gly545ValVAR_007995
60COL4A5p.Gly561ArgVAR_007996
61COL4A5p.Gly579ArgVAR_007997
62COL4A5p.Gly635AspVAR_007998
63COL4A5p.Gly638SerVAR_007999
64COL4A5p.Gly669AlaVAR_008000
65COL4A5p.Gly687GluVAR_008001
66COL4A5p.Gly743AspVAR_008002
67COL4A5p.Gly808GluVAR_008003
68COL4A5p.Gly852GluVAR_008005
69COL4A5p.Gly878ArgVAR_008006
70COL4A5p.Gly1107ArgVAR_008008
71COL4A5p.Gly1161ArgVAR_008009
72COL4A5p.Gly1211ArgVAR_008010
73COL4A5p.Gly1220AspVAR_008011
74COL4A5p.Gly1333SerVAR_008012
75COL4A5p.Gly1427ValVAR_008013
76COL4A5p.Gly1442AspVAR_008014
77COL4A5p.Gly1486AlaVAR_008015
78COL4A5p.Gly177CysVAR_011220
79COL4A5p.Gly192ArgVAR_011221
80COL4A5p.Gly204ValVAR_011222
81COL4A5p.Gly230ArgVAR_011223
82COL4A5p.Gly239GluVAR_011224
83COL4A5p.Gly264ArgVAR_011225
84COL4A5p.Gly292ArgVAR_011226
85COL4A5p.Gly295AspVAR_011227
86COL4A5p.Gly298SerVAR_011228
87COL4A5p.Gly319ArgVAR_011229
88COL4A5p.Gly412ValVAR_011230
89COL4A5p.Gly415ArgVAR_011231
90COL4A5p.Gly420GluVAR_011232
91COL4A5p.Gly420ValVAR_011233
92COL4A5p.Gly423GluVAR_011234
93COL4A5p.Gly491GluVAR_011235
94COL4A5p.Gly497CysVAR_011236
95COL4A5p.Gly524AspVAR_011237
96COL4A5p.Gly558ArgVAR_011238
97COL4A5p.Gly573AspVAR_011239
98COL4A5p.Gly579GluVAR_011240
99COL4A5p.Gly603ValVAR_011241
100COL4A5p.Gly609ArgVAR_011242
101COL4A5p.Gly621CysVAR_011244
102COL4A5p.Gly624AspVAR_011245
103COL4A5p.Gly629AspVAR_011246
104COL4A5p.Gly632AspVAR_011247
105COL4A5p.Glu633LysVAR_011248
106COL4A5p.Gly681AspVAR_011249
107COL4A5p.Gly722GluVAR_011250
108COL4A5p.Pro739SerVAR_011252rs104886164
109COL4A5p.Gly802ArgVAR_011253
110COL4A5p.Gly811ValVAR_011255
111COL4A5p.Gly822ArgVAR_011256
112COL4A5p.Met898ValVAR_011258
113COL4A5p.Gly902ValVAR_011259
114COL4A5p.Gly911GluVAR_011260
115COL4A5p.Gly941CysVAR_011261
116COL4A5p.Gly947AspVAR_011262
117COL4A5p.Gly953ValVAR_011263rs78972735
118COL4A5p.Gly1006AlaVAR_011264
119COL4A5p.Gly1006ValVAR_011265
120COL4A5p.Gly1015GluVAR_011266
121COL4A5p.Gly1015ValVAR_011267
122COL4A5p.Gly1030SerVAR_011268
123COL4A5p.Gly1036ValVAR_011269
124COL4A5p.Gly1039SerVAR_011270
125COL4A5p.Gly1045GluVAR_011271
126COL4A5p.Gly1066ArgVAR_011272
127COL4A5p.Gly1066SerVAR_011273
128COL4A5p.Gly1086AspVAR_011274
129COL4A5p.Gly1158ArgVAR_011275
130COL4A5p.Gly1167SerVAR_011276
131COL4A5p.Gly1170SerVAR_011277
132COL4A5p.Gly1196ArgVAR_011278
133COL4A5p.Gly1205CysVAR_011279
134COL4A5p.Gly1211GluVAR_011280
135COL4A5p.Gly1229AspVAR_011281
136COL4A5p.Gly1244AspVAR_011282
137COL4A5p.Gly1252SerVAR_011283
138COL4A5p.Gly1261GluVAR_011284
139COL4A5p.Gly1357SerVAR_011285
140COL4A5p.Ser1488PheVAR_011287
141COL4A5p.Arg1511HisVAR_011288
142COL4A5p.Cys1567ArgVAR_011289
143COL4A5p.Arg1677ProVAR_011290
144COL4A5p.Cys1678TrpVAR_011291

Expression for genes affiliated with Alport Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Alport Syndrome

Search GEO for disease gene expression data for Alport Syndrome.

Pathways for genes affiliated with Alport Syndrome

Sources:
54Reactome, 30KEGG, 50PharmGKB, 12EMD Millipore, 38NCBI BioSystems Database, 52QIAGEN
See all sources

Pathways related to Alport Syndrome according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.0COL4A3, COL4A4, COL4A1, COL4A5
2
Hide members
10.0COL4A3, COL4A4, COL4A1, COL4A5
3
Hide members
10.0COL4A4, COL4A1, COL4A6, COL4A5
49.9COL4A5, COL4A6, COL4A1, COL4A4, COL4A3
59.9COL4A5, COL4A6, COL4A1, COL4A4, COL4A3
69.9COL4A5, COL4A6, COL4A1, COL4A4, COL4A3
7
Hide members
9.8COL4A3, ITGA5, LAMA5, LAMB1
8
Hide members
9.7COL4A5, COL4A6, COL4A1, COL4A4, COL4A3, MMP3
9
Hide members
9.7COL4A5, COL4A1, COL4A4, COL4A3, ITGA5, MYH9
109.7COL4A5, COL4A6, COL4A1, COL4A4, COL4A3, LAMB1
11
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
Hide members
9.5LAMB1, COL4A5, COL4A6, COL4A1, COL4A4, COL4A3
129.5COL4A5, COL4A6, COL4A1, COL4A4, COL4A3, LAMA5
139.5COL4A5, COL4A6, COL4A1, COL4A4, COL4A3, LAMA5
149.5COL4A5, COL4A6, COL4A1, COL4A4, COL4A3, LAMA5
15
Cell adhesion Integrin-mediated cell adhesion and migration
Hide members
9.4COL4A5, COL4A6, COL4A1, COL4A4, COL4A3, ITGA5
16
Cell adhesion ECM remodeling
Hide members
9.4COL4A5, COL4A6, COL4A1, COL4A4, COL4A3, ITGA5
17
Hide members
9.3COL4A5, COL4A6, COL4A1, COL4A4, COL4A3, ITGA5
189.3COL4A5, COL4A6, COL4A1, COL4A4, COL4A3, ITGA5
19
Hide members
9.2COL4A5, COL4A6, COL4A1, COL4A4, COL4A3, ITGA5
20
Hide members
9.2COL4A5, COL4A6, COL4A1, COL4A4, COL4A3, ITGA5
21
Hide members
9.2COL4A5, COL4A6, COL4A1, COL4A4, COL4A3, ITGA5
22
Hide members
9.1COL4A5, COL4A6, COL4A1, COL4A4, COL4A3, ITGA5

Compounds for genes affiliated with Alport Syndrome

Sources:
45Novoseek, 50PharmGKB, 11DrugBank
See all sources

Compounds related to Alport Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arresten4510.2COL4A3, COL4A1
2adalimumab45 50 1112.2MMP3, CD79A
3piroxicam45 1111.1MMP3, CD79A
4vegf459.4COL4A3, ITGA5, CD79A, MMP3, LAMA5

GO Terms for genes affiliated with Alport Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Alport Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basal laminaGO:00560510.1COL4A4, LAMA5, COL4A5
2laminin-10 complexGO:04325910.1LAMB1, LAMA5
3collagen type IVGO:00558710.0COL4A6, COL4A1, COL4A4, COL4A3, COL4A5
4basement membraneGO:00560410.0COL4A3, LAMB1, LAMA5
5endoplasmic reticulum lumenGO:00578810.0COL4A3, COL4A4, COL4A1, COL4A6, COL4A5
6laminin-1 complexGO:0056069.8LAMB1, LAMA5
7extracellular regionGO:0055769.3COL4A6, COL4A4, COL4A1, MMP3, COL4A3, COL4A5

Biological processes related to Alport Syndrome according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:03283610.2COL4A3, COL4A4
2cellular response to amino acid stimulusGO:07123010.1COL4A6, COL4A1, MMP3
3collagen catabolic processGO:0305749.9COL4A5, COL4A6, COL4A1, COL4A4, COL4A3, MMP3
4extracellular matrix disassemblyGO:0226179.8COL4A5, COL4A6, COL4A1, COL4A4, COL4A3, MMP3
5angiogenesisGO:0015259.8LAMA5, MYH9, ITGA5, COL4A1
6integrin-mediated signaling pathwayGO:0072299.7ITGA5, MYH9, LAMA5
7axon guidanceGO:0074119.6COL4A5, COL4A1, COL4A4, COL4A3, ITGA5, MYH9
8extracellular matrix organizationGO:0301989.4LAMB1, COL4A5, COL4A6, COL4A1, COL4A4, COL4A3

Molecular functions related to Alport Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integrin bindingGO:0051789.8COL4A3, ITGA5, LAMA5, LAMB1
2extracellular matrix structural constituentGO:0052019.4COL4A5, COL4A6, COL4A1, COL4A4, COL4A3, LAMB1

Products for genes affiliated with Alport Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alport Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet