MCID: ALP004
MIFTS: 69

Alport Syndrome malady

Eye diseases, Nephrological diseases, Ear diseases, Fetal diseases, Genetic diseases categories

Summaries for Alport Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 leiomyomatosis 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 kidney, eye and skin, 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:63 Alport syndrome or hereditary nephritis is a genetic disorder characterized by glomerulonephritis,... more...

Description from OMIM:46 301050,104200,203780

Aliases & Classifications for Alport Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 56SNOMED-CT, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
x-linked alport syndrome:
Inheritance: X-linked dominant; Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

alport syndrome 8 9 42 22 21 46 10 60
hemorrhagic hereditary nephritis 42 21 60
alport syndrome, x-linked 42 44 60
congenital hereditary hematuria 42 21
hemorrhagic familial nephritis 42 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 48
alports syndrome 44


External Ids:

Disease Ontology8 DOID:10983
MeSH34 D009394
SNOMED-CT56 57333009, 399340005
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C1567742

Related Diseases for Alport Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Alport Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1leiomyomatosis31.0COL4A6, COL4A5
2autosomal dominant alport syndrome30.9COL4A4, COL4A3
3autosomal recessive alport syndrome30.9COL4A4, COL4A3
4proteinuria30.5COL4A5, COL4A4, COL4A3, MYH9, CD79A
5glomerulonephritis30.2COL4A5, COL4A4, COL4A3, MYH9, CD79A
6goodpasture syndrome29.9COL4A3, COL4A3BP
7thin basement membrane nephropathy29.9COL4A4, COL4A3
8cataract29.9MMP3, MYH9, COL4A6, COL4A5
9alport syndrome and thin basement membrane nephropathy10.5
10esophagitis10.4
11macular holes10.3
12collagen disease10.3
13retinitis10.3
14x-linked disease10.3
15leiomyomatosis, esophageal and vulval, with nephropathy10.3
16adult syndrome10.3
17good syndrome10.2
18kidney disease10.2
19alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis10.2
20end stage renal failure10.1
21peritonitis10.1
22image syndrome10.1
23alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis10.1
24mental retardation10.0ACSL4, COL4A5
25corneal ectasia10.0VSX1
26keratoconus10.0MMP3, VSX1
27diabetic nephropathy10.0
28neurofibromatosis10.0
29membranoproliferative glomerulonephritis10.0
30smooth muscle tumor10.0
31frasier syndrome10.0
32balkan hemorrhagic fever10.0
33polycystic kidney disease10.0
34nephrocalcinosis10.0
35balkan nephropathy10.0
36erythropoietic protoporphyria10.0
37horner's syndrome10.0
38autosomal dominant disease10.0
39craniopharyngioma10.0
40gingivitis10.0
41hemorrhagic fever with renal syndrome10.0
42herpes simplex10.0
43intellectual disability10.0
44keratitis10.0
45periodontitis10.0
46retinal degeneration10.0
47retinal detachment10.0
48skin disease10.0
49ventricular septal defect10.0
50myh9 related thrombocytopenia10.0

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



Diseases related to alport syndrome

Clinical Features for Alport Syndrome

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Sources:
46OMIM
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Clinical features from OMIM:

301050,104200,203780

Clinical synopsis from OMIM:

301050

Drugs & Therapeutics for Alport Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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22GTR
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Genetic tests related to Alport Syndrome:

id Genetic test Affiliating Genes
1 Alport Syndrome22

Anatomical Context for Alport Syndrome

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Sources:
30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Alport Syndrome:

32
Kidney, Eye, Skin, Testes, Smooth muscle, Bone, 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

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36MGI
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MGI Mouse Phenotypes related to Alport Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.5LAMA5, COL4A5, COL4A1, COL4A4, COL4A3, MYH9
2MP:00107689.1COL4A3BP, COL4A1, COL4A4, COL4A3, ITGA5, MYH9
3MP:00053859.1COL4A5, COL4A3BP, COL4A1, COL4A3, ITGA5, MYH9
4MP:00053769.0COL4A5, COL4A3BP, COL4A1, COL4A4, COL4A3, MYH9

Publications for Alport Syndrome

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50PubMed
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Articles related to Alport Syndrome:

(show top 50)    (show all 458)
idTitleAuthorsYear
1
Pregnancy in women with Alport syndrome. (22418765)
2013
2
A Case of Alport Syndrome with Posttransplant Antiglomerular Basement Membrane Disease despite Negative Antiglomerular Basement Membrane Antibodies by EIA Treated with Plasmapheresis and Intravenous Immunoglobulin. (24363950)
2013
3
Alport syndrome--insights from basic and clinical research. (23165304)
2013
4
Structure-function correlation of focal and diffuse temporal perifoveolar thinning in Alport syndrome. (24119173)
2013
5
Mutation c.359_363delGTATTinsATAC in the COL4A5 causes Alport syndrome in a Chinese family. (23085274)
2013
6
Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5. (22335431)
2012
7
Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis. (23259488)
2012
8
Advances in Alport syndrome diagnosis using next-generation sequencing. (21897443)
2012
9
Ocular abnormalities in Alport syndrome. (20117741)
2010
10
Retinal basement membrane abnormalities and the retinopathy of Alport syndrome. (19850830)
2010
11
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. (19129241)
2009
12
Living donor kidney transplantation from relatives with mild urinary abnormalities in Alport syndrome: long-term risk, benefit and outcome. (19028755)
2009
13
Atypical Alport syndrome associated with a novel COL4A5 mutation. (19281745)
2009
14
Treatment of Alport syndrome: beyond animal models. (19536083)
2009
15
Opinion: Ocular features aid the diagnosis of Alport syndrome. (19474829)
2009
16
Antigen retrieval with protease digestion applied in immunohistochemical diagnosis of Alport syndrome. (18524789)
2008
17
Is anterior lenticonus the most common ocular finding in Alport syndrome? (18165055)
2008
18
The use of ocular abnormalities to diagnose X-linked Alport syndrome in children. (18343956)
2008
19
Prenatal diagnosis and genetic counseling of a Chinese Alport syndrome kindred. (18373399)
2008
20
Alport syndrome and the X chromosome: implications of a diagnosis of Alport syndrome in females. (17400558)
2007
21
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families. (16338941)
2006
22
Resolution of proteinuria in a patient with X-linked Alport syndrome treated with cyclosporine. (17130107)
2006
23
Is genetic testing of healthy pre-symptomatic children with possible Alport syndrome ethical? (16491420)
2006
24
Alport syndrome in southern Sweden. (16114783)
2005
25
Discordant phenotypic expression of Alport syndrome in monozygotic twins. (15524063)
2004
26
A new point mutation in the COL4A5 gene described in a Spanish family with X-linked Alport syndrome. (11961405)
2002
27
Animal models of Alport syndrome. (12147777)
2002
28
Angiotensin converting enzyme inhibitor therapy in children with Alport syndrome: effect on urinary albumin, TGF-beta, and nitrite excretion. (11869456)
2002
29
Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome. (11462238)
2001
30
Bilateral anterior lenticonus: Scheimpflug imaging system documentation and ultrastructural confirmation of Alport syndrome in the lens capsule. (10900100)
2000
31
Psychosocial impact of an X-linked hereditary disease: a study of Alport syndrome patients and family members. (10921441)
2000
32
Alport syndrome. (10868210)
2000
33
Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene. (11004279)
2000
34
Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients. (10563487)
1999
35
FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. (9480748)
1998
36
Alport syndrome: clinical and genetic correlation in a type-IV collagen disease. (9399052)
1997
37
Molecular diagnosis of Alport syndrome: the experience in Siena. (9399055)
1997
38
Alport syndrome: clinical experience with 21 paediatric patients. (8750811)
1996
39
Application of linked markers for genetic diagnosis of Alport syndrome. (8801047)
1996
40
A single-base mutation in exon 31 converting glycine 852 to arginine in the collagenous domain in an Alport syndrome patient. (8893151)
1996
41
COL4A5 gene deletion and production of post-transplant anti-alpha 3(IV) collagen alloantibodies in Alport syndrome. (8196274)
1994
42
Type IV collagen alpha 5 chain. Normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody. (8178947)
1994
43
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. (7987301)
1994
44
Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome. (8225325)
1993
45
Alport syndrome: from bedside to genome to bedside. (8238007)
1993
46
CECIL: a database for storing and retrieving clinical and molecular information on patients with Alport syndrome. (8130555)
1993
47
DNA rearrangements in the alpha 5(IV) collagen gene (COL4A5) of individuals with Alport syndrome: further refinement using pulsed-field gel electrophoresis. (1330889)
1992
48
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. (1376965)
1992
49
Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome. (1783380)
1991
50
Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome. (1672282)
1991

Genetic Variations for Alport Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Alport Syndrome:

62 (show all 144)
id Symbol AA change Variation ID 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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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53Reactome, 29KEGG, 49PharmGKB, 12EMD Millipore, 37NCBI BioSystems Database, 51QIAGEN
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

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44Novoseek, 49PharmGKB, 11DrugBank
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Compounds related to Alport Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arresten4410.2COL4A3, COL4A1
2adalimumab44 49 1112.2MMP3, CD79A
3piroxicam44 1111.1MMP3, CD79A
4vegf449.4COL4A3, ITGA5, CD79A, MMP3, LAMA5

GO Terms for genes affiliated with Alport Syndrome

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16Gene Ontology
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Cellular components related to Alport Syndrome according to GeneCards/GeneDecks:

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

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:0051789.8LAMB1, LAMA5, ITGA5, COL4A3
2extracellular matrix structural constituentGO:0052019.4LAMB1, COL4A5, COL4A6, COL4A1, COL4A4, COL4A3

Products for genes affiliated with Alport Syndrome

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Sources for Alport Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet