Alport Syndrome malady

NIH Rare Diseases: 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 frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About 80 percent of cases are inherited in an X-linked pattern and are caused by mutations in the COL4A5 gene.³⁰

MalaCards: Alport Syndrome, also known as hemorrhagic hereditary nephritis, is related to polycystic kidney disease and autosomal recessive alport syndrome. An important gene associated with Alport Syndrome is COL4A5 (collagen, type IV, alpha 5), and among its related pathways are Cell adhesion_Integrin inside-out signaling and Cell adhesion Integrin inside-out signaling. The drugs cefepime and albumin,human and the compounds Collagenase and arresten have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and smooth muscle, and related mouse phenotypes are renal/urinary system and embryogenesis.

Disease Ontology: A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.⁶

Genetics Home Reference: Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.¹⁷

Wikipedia: Alport syndrome or hereditary nephritis is a genetic disorder characterized by glomerulonephritis,...⁴⁴ more...

OMIM: 301050

Aliases & Descriptions:

alport syndrome 6 7 30 17 8 33 43 hemorrhagic hereditary nephritis 30 17 43 hereditary nephritis 6 17 43 congenital hereditary hematuria 30 17 hemorrhagic familial nephritis 30 17 alport syndrome, x-linked 30 32 hereditary familial congenital hemorrhagic nephritis 17

hematuria-nephropathy-deafness syndrome 17 hereditary interstitial pyelonephritis 17 hematuric hereditary nephritis 17 hereditary hematuria syndrome 17 alports syndrome 32 kidney diseases 43 pyelonephritis 43

Diseases related to alport syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 399)

id	Related Disease	Score	Top Affiliating Genes
1	polycystic kidney disease	36.0	LAMA5, LAMB1, CD79A, ITGA2, ALB, HMGCR
2	autosomal recessive alport syndrome	35.4	COL4A5, COL4A3, COL4A4
3	autosomal dominant alport syndrome	35.0	COL4A3, COL4A4
4	leiomyomatosis	33.5	LAMB1, ITGA5, COL4A5, COL4A6, COL4A3, COL4A4
5	collagen iv-related nephropathies (alport syndrome and thin basement membrane nephropathy)	32.8	COL4A5, COL4A3, COL4A4
6	hematuria	31.6	CD79A, COL4A1, COL4A5, COL4A6, COL4A3, COL4A4
7	alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis	31.2	KCNE1L, AMMEC, AMMECR1, AMMECR1L, COL4A5, ACSL4
8	primary hyperoxaluria	30.7	CD79A, ALB, COL4A5, COL4A4
9	elliptocytosis	30.6	KCNE1L, AMMEC, AMMECR1, AMMECR1L, COL4A5, ACSL4
10	hearing loss	30.2	HLA-DRB1, COL1A1, COL4A5, COL1A2, COL4A3, MYH9
11	hypertension	29.3	BMP6, CD79A, ITGA2, ALB, HMGCR, HLA-DRB1
12	anemia	29.3	BMP6, CD79A, ITGA2, ITGA5, ALB, HLA-DRB1
13	smooth muscle tumor	28.7	COL4A5, COL4A6, DES
14	hepatitis	28.6	ALB, HLA-DRB1, TGFB1, GGT1
15	end stage renal failure	28.3	CD79A, ALB, COL4A5, TGFB1, GGT1
16	proteinuria	27.9	BMP6, CD79A, ALB, HMGCR, COL4A5, COL4A3
17	nephritis	27.2	BMP6, LAMA1, CD79A, ALB, HLA-DRB1, COL4A5
18	intellectual disability	27.2	LAMA2, AMMECR1, ALB, COL4A5, ACSL4
19	chronic kidney failure	26.9	CD79A, ALB, HMGCR
20	cystic fibrosis	26.7	BMP6, CD79A, ALB, COL1A1, COL4A5, COL1A2
21	marfan syndrome	26.5	BMP6, COL1A2, TGFB1
22	lupus nephritis	26.4	BMP6, CD79A, ALB, HLA-DRB1, TGFB1, MYH9
23	pure red-cell aplasia	25.9	CD79A, ALB, HLA-DRB1
24	membranous glomerulonephritis	25.8	LAMB1, CD79A, ALB, TGFB1
25	atherosclerosis	25.5	BMP6, LAMA1, CD79A, ITGA2, ITGA5, ALB
26	prostate disease	25.5	BMP6, ALB, TGFB1
27	type 2 diabetes mellitus	25.4	ALB, HMGCR, HLA-DRB1, TGFB1, GGT1, MYH9
28	esophagitis	25.4	BMP6, CD79A, ITGA2, ALB, HLA-DRB1, COL4A1
29	iga glomerulonephritis	25.4	BMP6, CD79A, ALB, TGFB1
30	aldosteronism	25.3	BMP6, ALB, COL1A1, COL1A2, TGFB1
31	atrial fibrillation	25.0	KCNE1L, ITGA2, ALB, HMGCR, TGFB1
32	hepatitis a	24.8	CD79A, ALB, HLA-DRB1, TGFB1, GGT1
33	nephrotic syndrome	24.8	BMP6, CD79A, ALB, HMGCR, HLA-DRB1, COL4A4
34	gout	24.7	LAMA5, CD79A, ALB, HLA-DRB1, TGFB1
35	congestive heart failure	24.7	ALB, TGFB1, DES, GGT1
36	hypothyroidism	24.7	CD79A, ALB, HLA-DRB1, TGFB1, DES
37	myocardial infarction	24.4	BMP6, CD79A, ITGA2, ALB, HMGCR, COL1A1
38	twinning	24.4	LAMA2, CD79A, ITGA2, ALB, HLA-DRB1, COL1A1
39	peritonitis	24.4	BMP6, CD79A, ITGA2, ITGA5, ALB, HMGCR
40	periodontitis	24.3	BMP6, CD79A, ITGA2, ALB, HMGCR, HLA-DRB1
41	celiac disease	24.3	CD79A, ALB, HLA-DRB1, TGFB1, DES, GGT1
42	multiple myeloma	24.0	BMP6, CD79A, ITGA2, ITGA5, ALB, HMGCR
43	myeloma	23.9	BMP6, CD79A, ITGA2, ITGA5, ALB, HMGCR
44	cataract	23.9	BMP6, ALB, COL4A5, COL4A6, COL4A4, TGFB1
45	hepatitis c	23.9	BMP6, CD79A, ITGA2, ALB, HMGCR, HLA-DRB1
46	lupus erythematosus	23.7	BMP6, LAMB1, CD79A, ITGA2, ALB, HMGCR
47	hypoxia	23.7	BMP6, ITGA2, ITGA5, ALB, HMGCR, COL1A1
48	coronary heart disease	23.6	CD79A, ITGA2, ALB, HMGCR, HLA-DRB1, TGFB1
49	liver cirrhosis	23.6	BMP6, CD79A, ALB, HLA-DRB1, COL1A1, TGFB1
50	neuropathy	23.4	LAMA2, CD79A, ALB, HMGCR, HLA-DRB1, TGFB1

Clinical features from OMIM: 301050

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 albumin,human, albumin,human inj [va product], cefepime, cefepime hydrochloride, dopamine, dopamine hydrochloride, ertapenem, gatifloxacin, levofloxacin, moxifloxacin, moxifloxacin hcl

MalaCards organs/tissues related to alport syndrome:

²²

id	Organ / Tissue -> Anatomical Compartment -> Cell	Relevance
1	Kidney -> Glomerular Basement Membrane	Affected by disease

MGI Mouse Phenotypes related to alport syndrome:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	renal/urinary system phenotype	MP:0005367	9.5	MYH9, COL4A4, COL4A3, COL4A5, COL4A1, LAMA5
2	embryogenesis phenotype	MP:0005380	9.5	LAMA5, ITGA5, COL1A1, COL4A3BP
3	other phenotype	MP:0005395	9.1	COL4A3, COL4A2, COL4A1, LAMA5, LAMA2
4	reproductive system phenotype	MP:0005389	8.9	LAMA1, LAMA2, COL4A3BP, ACSL4, TGFB1
5	cardiovascular system phenotype	MP:0005385	7.4	MYH9, DES, TGFB1, COL4A3, COL4A2, COL1A2
6	normal phenotype	MP:0002873	7.3	MYH9, ACSL4, COL4A6, COL1A2, COL1A1, HMGCR
7	growth/size phenotype	MP:0005378	6.9	COL1A2, COL4A2, COL4A3, COL4A4, GGT1, MYH9
8	cellular phenotype	MP:0005384	6.6	COL4A3BP, COL1A2, COL4A2, TGFB1, MYH9, COL4A1
9	homeostasis/metabolism phenotype	MP:0005376	5.7	COL4A3, COL4A4, ACSL4, TGFB1, DES, GGT1
10	mortality/aging	MP:0010768	5.0	LAMA1, COL1A2, COL4A2, COL4A3, COL4A4, TGFB1

Articles related to alport syndrome:

(show top 50)    (show all 181)

id	Title	Authors	Year	Affiliating Genes
1	Alport syndrome and leiomyomatosis: the first deletio n extending beyond COL4A6 intron 2. (21380622)	Uliana V.... Salviati L.	2011	COL4A6, COL4A5
2	Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. (19129241)	Marcocci E.... Mari F.	2009	COL4A3, COL4A4
3	Atypical Alport syndrome associated with a novel COL4A5 mutation. (19281745)	HAPpker K.... Benzing T.	2009	COL4A5
4	Novel human pathological mutations. Gene symbol: COL4 A5. Disease: Alport syndrome. (19693995)	Ellison J.	2009	COL4A5
5	MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome. (18616531)	Hertz J.M.... Marcussen N.	2008	COL4A5
6	Alport syndrome and thin basement membrane nephropathy. (17570934)	Thorner P.S.	2007	COL4A3, COL4A5, COL4A4
7	A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome. (16941480)	King K.... Green P.M.	2006	COL4A5
8	Autosomal dominant Alport's syndrome: study of a large Tunisian family. (16970251)	Kharrat M.... Hachicha J.	2006	COL4A3, COL4A4, COL4A3BP
9	Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. (15086897)	Pescucci C.... Renieri A.	2004	COL4A3, COL4A4
10	Detection of a novel mutation in COL4A5 gene from a Chinese family with X-linked alport syndrome (15651669)	Peng C.L.... Hu S.N.	2004	COL4A5
11	Discordant phenotypic expression of Alport syndrome in monozygotic twins. (15524063)	Matsukura H.... Miyawaki T.	2004	COL4A5
12	Alport syndrome: HLA association and kidney graft outcome. (15182324)	Barocci S.... Nocera A.	2004	HLA-DRB1
13	A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia. (15149316)	Arrondel C.... Heidet L.	2004	COL4A5
14	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)	Jais J.P.... Gubler M.C.	2003	COL4A5
15	Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases. (14582039)	Tazon Vega B.... Torra R.	2003	COL4A3, COL4A4
16	Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth. (14517961)	Thielen B.K.... Segal Y.	2003	COL4A6, COL4A5
17	Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome. (12436246)	King K.... Green P.M.	2002	COL4A5
18	Phenotypic and genotypic features of Alport syndrome in Chinese children. (12478350)	Wang F.... Yang J.	2002	COL4A6, COL4A5
19	Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome. (11318937)	Buzza M.... Savige J.	2001	COL4A5
20	Abnormal glomerular basement membrane laminins in murine, canine, and human Alport syndrome: aberrant laminin alpha2 deposition is species independent. (11158215)	Kashtan C.E.... Miner J.H.	2001	COL4A1, LAMA2
21	Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. (11044206)	van der Loop F.T.... Smeets H.J.	2000	COL4A3, COL4A4
22	The use of frailty models in genetic studies: application to the relationship between end-stage renal failure and mutation type in Alport syndrome. European Community Alport Syndrome Concerted Action Group (ECASCA). (11051113)	Albert I.... Jais J.P.	2000	COL4A5
23	Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME). (10049589)	Vitelli F.... Renieri A.	1999	AMMECR1
24	Methodology for analyzing censored correlated data: application of marginal and frailty approaches in human genetics. The European Community Alport Syndrome Concerted Action Group (ECASCA) (10673588)	Albert I.... Jais J.P.	1999	COL4A5
25	Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome. (10534397)	Lu W.... Meisler M.H.	1999	COL4A4
26	Absence of the alpha6(IV) chain of collagen type IV in Alport syndrome is related to a failure at the protein assembly level and does not result in diffuse leiomyomatosis. (10362815)	Zheng K.... Thorner P.S.	1999	COL4A6, COL4A5
27	Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. (10499074)	Kashtan C.E.	1999	COL4A3, COL4A6, COL4A5
28	Autosomal recessive Alport syndrome: linkage analysis and clinical features in two families. (10193810)	Torra R.... Darnell A.	1999	COL4A4
29	Detection of mutations in COL4A5 in patients with Alport syndrome. (10094548)	Plant K.E.... Flinter F.A.	1999	COL4A5
30	Molecular genetic and immunohistochemical study of autosomal recessive Alport's syndrome. (10074584)	Nomura S.... Osawa G.	1998	COL4A1, COL4A3, COL4A4
31	Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome. (9463311)	Ueki Y.... Ninomiya Y.	1998	COL4A6, COL4A5
32	Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. (9792860)	Boye E.... Antignac C.	1998	COL4A3, COL4A4
33	X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. (8651296)	Renieri A.... de Marchi M.	1996	COL4A5
34	Absence of alpha 6(IV) collagen in kidney and skin of X-linked Alport syndrome patients. (8971895)	Hino S.... Yoshioka K.	1996	COL4A6
35	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)	Heiskari N.... Tryggvason K.	1996	COL4A6, COL4A5
36	Expression of type IV collagen alpha 3 and alpha 4 chain mRNA in X-linked Alport syndrome. (8793804)	Nakanishi K.... Nakamura H.	1996	COL4A3, COL4A5
37	Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis. (7780062)	Ding J.... Kashtan C.E.	1995	COL4A3, COL4A4
38	Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours. (7711741)	Heidet L.... Guillot M.	1995	COL4A6, COL4A5
39	De-novo COL4A5 gene mutations in Alport's syndrome. (7816253)	Massella L.... de Marchi M.	1994	COL4A5
40	Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells. (7853788)	Nakazato H.... Matsuda I.	1994	COL4A5
41	COL4A5 splice site mutation and alpha 5(IV) collagen mRNA in Alport syndrome. (8441246)	Netzer K.O.... Weber M.	1993	COL4A5
42	Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome. (8406498)	Lemmink H.L.... Smeets H.J.M.	1993	COL4A5
43	Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis. (8253711)	Hudson B.G.... Tryggvason K.	1993	COL4A4
44	Molecular genetics of Alport syndrome (1491454)	Yamazaki H.... Arakawa M.	1992	COL4A5
45	Deletions of the COL4A5 gene in patients with Alport syndrome. (1474765)	Netzer K.O.... Weber M.	1992	COL4A5
46	Alport syndrome and diffuse leiomyomatosis: deletions in the 5' end of the COL4A5 collagen gene. (1453602)	Antignac C.... Tryggvason K.	1992	COL4A5
47	Alport syndrome caused by a 5' deletion within the COL4A5 gene. (1577459)	Renieri A.... de Marchi M.	1992	COL4A5
48	High-density genetic and physical mapping of DNA markers near the X-linked Alport syndrome locus: definition and use of flanking polymorphic markers. (1684566)	Barker D.F.... Atkin C.L.	1991	COL4A5
49	Characterization of the 3' half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome. (2004755)	Zhou J.... Tryggvason K.	1991	COL4A5
50	Identification of mutations in the COL4A5 collagen gene in Alport syndrome. (2349482)	Barker D.F.... Tryggvason K.	1990	COL4A5

Genes related to alport syndrome according to GeneCards:

(show all 29)

id	Symbol	Description	Score	GeneCards Section Context
1	COL4A5	collagen, type IV, alpha 5	11.1	Orthologs, Publications, Summaries, Aliases & Descriptions
2	AMMECR1	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	11.1	Summaries, Orthologs, Aliases & Descriptions, Publications (show all 5 sections) Transcripts
3	COL4A4	collagen, type IV, alpha 4	11.1	Summaries, Publications
4	COL4A3	collagen, type IV, alpha 3 (Goodpasture antigen)	11.1	Publications, Summaries
5	COL4A6	collagen, type IV, alpha 6	11.1	Publications, Summaries
6	ACSL4	acyl-CoA synthetase long-chain family member 4	11.1	Publications, Summaries
7	MYH9	myosin, heavy chain 9, non-muscle	11.1	Summaries, Publications
8	AMMEC	Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis	11.1	Aliases & Descriptions
9	COL4A3BP	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	11.0	Publications
10	KCNE1L	KCNE1-like	11.0
11	AMMECR1L	AMME chromosomal region gene 1-like	11.0	Orthologs
12	COL4A1	collagen, type IV, alpha 1	11.0	Publications
13	CD79A	CD79a molecule, immunoglobulin-associated alpha	11.0	Publications
14	ITGA5	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	11.0	Publications
15	COL1A2	collagen, type I, alpha 2	11.0	Publications
16	LAMB1	laminin, beta 1	11.0	Publications
17	LAMA5	laminin, alpha 5	11.0	Publications
18	COL1A1	collagen, type I, alpha 1	11.0	Publications
19	LAMA1	laminin, alpha 1	11.0	Publications
20	COL4A2	collagen, type IV, alpha 2	11.0	Publications
21	ITGA2	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	11.0	Publications
22	GGT1	gamma-glutamyltransferase 1	11.0	Publications
23	DES	desmin	11.0	Publications
24	HMGCR	3-hydroxy-3-methylglutaryl-CoA reductase	11.0	Publications
25	LAMA2	laminin, alpha 2	11.0	Publications
26	BMP6	bone morphogenetic protein 6	11.0	Publications
27	HLA-DRB1	major histocompatibility complex, class II, DR beta 1	11.0	Publications
28	ALB	albumin	11.0	Publications
29	TGFB1	transforming growth factor, beta 1	11.0	Publications

Pathways related to alport syndrome according to GeneDecks:

(show all 42)

id	Pathway	Score	Top Affiliating Genes
1	Cell adhesion_Integrin inside-out signaling41	9.4	COL1A1, ITGA5, ITGA2
2	Cell adhesion Integrin inside-out signaling10	9.3	ITGA2, ITGA5, COL1A1, COL1A2
3	Protein digestion and absorption20	9.2	COL4A4, COL4A6, COL4A2, COL1A2, COL4A5, COL4A1
4	Intrinsic Prothrombin Activation Pathway36	9.2	COL4A4, COL4A3, COL4A6, COL4A2, COL1A2, COL4A5
5	Blood Coagulation Cascade36	9.1	COL4A4, COL4A3, COL4A6, COL4A2, COL1A2, COL4A5
6	Arrhythmogenic right ventricular cardiomyopathy (ARVC)20	9.1	DES, ITGA5, ITGA2, LAMA2
7	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics34	9.0	ITGA2, COL1A1, COL4A1, COL4A5, COL1A2, COL4A2
8	Glioma Invasiveness36	8.9	BMP6, ITGA2, ITGA5, TGFB1
9	CDK5 Pathway36	8.8	ITGA5, ITGA2, LAMB1, LAMA5, LAMA2, LAMA1
10	Metalloproteases in connective tissue degradation10	8.8	COL4A5, COL1A2, COL4A2, COL4A6, COL4A3, COL4A4
11	Axon guidance38	8.8	MYH9, COL4A4, COL4A3, COL4A2, COL4A5, COL4A1
12	Cell adhesion Plasmin signaling10	8.7	LAMA1, LAMB1, COL4A1, COL4A5, COL4A2, COL4A6
13	Hypertrophic cardiomyopathy (HCM)20	8.7	DES, TGFB1, ITGA5, ITGA2, LAMA2
14	Cell adhesion_Plasmin signaling41	8.7	TGFB1, COL4A4, COL4A3, COL4A6, LAMA1, LAMB1
15	Dilated cardiomyopathy20	8.6	DES, TGFB1, ITGA5, ITGA2, LAMA2
16	Cell adhesion ECM remodeling10	8.5	LAMA1, COL4A4, LAMB1, ITGA5, COL1A1, COL4A1
17	Cell adhesion_ECM remodeling41	8.5	ITGA5, COL1A1, COL4A1, COL4A5, COL1A2, COL4A2
18	Small cell lung cancer20	8.4	LAMA2, LAMA5, LAMB1, ITGA2, COL4A1, COL4A5
19	Cell adhesion Integrin-mediated cell adhesion and migration10	8.3	COL4A6, COL4A3, COL4A4, MYH9, COL4A2, COL1A2
20	Toxoplasmosis20	8.3	TGFB1, HLA-DRB1, LAMB1, LAMA5, LAMA2, LAMA1
21	Cytoskeleton remodeling Integrin outside-in signaling10	8.2	LAMA1, LAMB1, COL4A4, ITGA2, ITGA5, COL1A1
22	Cytoskeleton remodeling_Integrin outside-in signaling41	8.2	ITGA2, ITGA5, COL1A1, COL4A1, COL4A5, COL1A2
23	Cell adhesion Endothelial cell contacts by non-junctional mechanisms10	8.2	LAMA1, LAMB1, COL4A4, ITGA2, ITGA5, COL1A1
24	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms41	8.2	ITGA2, ITGA5, COL1A1, COL4A1, COL4A5, COL1A2
25	Cell adhesion_Integrin-mediated cell adhesion and migration41	8.1	LAMA1, LAMB1, ITGA2, ITGA5, COL1A1, COL4A1
26	Amoebiasis20	7.7	LAMB1, COL1A1, COL4A1, COL4A5, COL1A2, COL4A2
27	Pathways in cancer20	7.7	TGFB1, COL4A4, COL4A6, COL4A2, COL4A5, COL4A1
28	Focal adhesion20	7.7	COL4A5, COL1A2, COL4A2, COL4A6, COL4A4, LAMA1
29	PTEN Pathway36	7.7	ITGA2, COL1A1, COL4A1, COL4A5, COL1A2, COL4A2
30	ECM-receptor interaction20	7.7	COL1A1, COL4A1, COL4A5, COL1A2, COL4A2, COL4A6
31	Inhibition of Angiogenesis by TSP136	7.6	LAMB1, COL1A1, COL4A1, COL4A5, COL1A2, COL4A2
32	FAK1 Signaling36	7.4	ITGA2, ITGA5, COL1A1, COL4A1, COL4A5, COL1A2
33	UPA-UPAR Pathway36	7.4	LAMB1, ITGA2, ITGA5, COL1A1, COL4A1, COL4A5
34	GnRH Signaling36	7.4	COL4A3, COL4A4, COL4A6, COL4A2, COL1A2, LAMA1
35	Integrin Pathway36	7.4	COL4A5, COL1A2, COL4A2, COL4A6, COL4A3, COL4A4
36	Molecular Mechanisms of Cancer36	7.3	BMP6, LAMA1, LAMA2, ITGA2, ITGA5, COL1A1
37	Transendothelial Migration of Leukocytes36	7.2	LAMA1, LAMA2, LAMA5, LAMB1, ITGA2, ITGA5
38	ILK Signaling36	6.8	BMP6, LAMA1, LAMA2, MYH9, TGFB1, COL4A4
39	MAPK Signaling36	6.4	COL4A6, COL4A3, COL4A4, TGFB1, LAMA2, LAMA5
40	ERK Signaling36	6.4	COL4A5, COL1A2, COL4A2, COL4A6, COL4A3, COL4A4
41	Phospholipase-C Pathway36	6.2	BMP6, LAMA1, LAMA2, LAMA5, LAMB1, CD79A
42	Rho Family GTPases36	6.0	BMP6, COL4A3, COL4A4, TGFB1, DES, COL4A6

Compounds related to alport syndrome according to GeneDecks:

(show all 41)

id	Compound	Score	Top Affiliating Genes
1	Collagenase9 9	11.3	COL1A1, COL1A2
2	arresten32	10.2	COL4A1, COL4A2, COL4A3
3	mspi32	10.1	COL1A2, COL4A5, COL1A1
4	nppa32	9.9	COL1A2, COL1A1
5	reticulin32	9.7	DES, CD79A, BMP6
6	clarithromycin32 9 9	11.7	HMGCR, CD79A, BMP6
7	pirfenidone32	9.6	BMP6, TGFB1
8	aspartate32	9.6	GGT1, COL1A2, BMP6
9	cysteine32	9.6	COL1A1, ALB, CD79A
10	pmma32	9.6	BMP6, CD79A, TGFB1
11	amiodarone32 9 9	11.5	GGT1, TGFB1, HMGCR
12	bezafibrate32 9 9	11.5	GGT1, DES, HMGCR
13	gamma globulin32	9.5	CD79A, ALB, GGT1
14	Hyaluronidase9 9	10.5	ALB, TGFB1
15	mycophenolate mofetil32 9 9	11.4	CD79A, ALB, GGT1
16	ursodeoxycholic acid32 9 18 9	12.3	BMP6, HMGCR, GGT1
17	simvastatin32 34 42 9 18 9	14.2	COL1A2, COL1A1, HMGCR, BMP6
18	troglitazone32 42 9 9	12.1	BMP6, HMGCR, ACSL4, TGFB1
19	heparan sulfate32 18	10.1	BMP6, LAMA5, LAMB1, DES
20	glutaraldehyde32	9.0	CD79A, ITGA2, ALB, TGFB1
21	phenytoin32 34 9 9	12.0	GGT1, ALB, CD79A, BMP6
22	ramipril32 9 9	10.9	TGFB1, HMGCR, ALB, CD79A
23	dihydrotestosterone32 9 18 9	11.9	GGT1, DES, TGFB1, CD79A, BMP6
24	tacrolimus32 34 9 9	11.8	GGT1, TGFB1, HMGCR, CD79A, BMP6
25	procollagen32	8.8	DES, TGFB1, COL1A2, COL1A1, ITGA5, BMP6
26	polysaccharide32	8.8	GGT1, TGFB1, ITGA2, CD79A, BMP6
27	sodium dodecylsulfate32	8.6	DES, ALB, ITGA2, CD79A, BMP6
28	thymidine32 18	9.6	BMP6, ITGA5, COL1A1, COL1A2, TGFB1, DES
29	thyroxine32 18	9.5	CD79A, ALB, HMGCR, TGFB1, GGT1
30	indomethacin32 9 9	10.3	GGT1, TGFB1, ALB, CD79A, BMP6
31	vitamin d32	8.3	TGFB1, COL1A2, COL1A1, ALB, CD79A, BMP6
32	arginine32	8.1	GGT1, DES, COL4A5, COL1A1, HLA-DRB1, HMGCR
33	heparin32 9 18 9	11.1	LAMA1, DES, HMGCR, ALB, CD79A, LAMA5
34	hyaluronic acid32 18	9.1	GGT1, DES, TGFB1, ALB, CD79A, BMP6
35	retinoic acid32 42 18	10.0	DES, TGFB1, COL1A1, ITGA2, CD79A, LAMB1
36	histamine32 18	9.0	TGFB1, HMGCR, ALB, CD79A, BMP6
37	lactate32	7.7	GGT1, DES, TGFB1, HMGCR, ALB, CD79A
38	methotrexate32 34 42 9 9	11.4	GGT1, TGFB1, HLA-DRB1, HMGCR, ALB, CD79A
39	vegf32	7.3	DES, TGFB1, COL4A3, COL4A2, COL1A1, HMGCR
40	creatinine32	7.2	GGT1, DES, TGFB1, HMGCR, ALB, CD79A
41	alanine32	6.9	GGT1, TGFB1, COL1A1, HLA-DRB1, ALB, CD79A

Cellular components related to alport syndrome according to GeneDecks:

(show all 13)

id	Name	GO ID	Score	Top Affiliating Genes
1	basal lamina	GO:005605	10.1	LAMA5, COL4A5, COL4A4
2	collagen type I	GO:005584	10.0	COL1A2, COL1A1
3	laminin-10 complex	GO:043259	9.9	LAMB1, LAMA5
4	integrin complex	GO:008305	9.8	ITGA2, ITGA5, MYH9
5	collagen type IV	GO:005587	9.7	COL4A1, COL4A4, COL4A3, COL4A6, COL4A2, COL4A5
6	neuromuscular junction	GO:031594	9.5	COL4A5, DES, MYH9
7	laminin-1 complex	GO:005606	9.5	LAMB1, LAMA5, LAMA2, LAMA1
8	basement membrane	GO:005604	9.3	COL4A3, LAMB1, LAMA5, LAMA2, LAMA1
9	endoplasmic reticulum lumen	GO:005788	9.1	COL4A4, COL4A3, COL4A6, COL4A2, COL1A2, COL4A5
10	external side of plasma membrane	GO:009897	9.1	CD79A, ITGA2, ITGA5, HLA-DRB1
11	extracellular matrix	GO:031012	8.5	COL4A2, COL1A2, COL4A1, COL1A1, LAMB1, LAMA5
12	extracellular space	GO:005615	7.4	TGFB1, COL1A2, COL1A1, ALB, LAMB1, LAMA5
13	extracellular region	GO:005576	6.5	TGFB1, COL4A4, COL4A3, COL4A6, COL4A2, COL1A2

Biological processes related to alport syndrome according to GeneDecks:

(show all 13)

id	Name	GO ID	Score	Top Affiliating Genes
1	skin morphogenesis	GO:043589	10.0	COL1A1, COL1A2
2	cellular response to amino acid stimulus	GO:071230	9.9	COL4A6, COL1A2, COL4A1, COL1A1
3	regulation of embryonic development	GO:045995	9.7	LAMA1, LAMA2, LAMA5
4	integrin-mediated signaling pathway	GO:007229	9.7	LAMA5, ITGA2, ITGA5, MYH9
5	leukocyte migration	GO:050900	9.7	MYH9, COL1A2, COL1A1, ITGA5
6	angiogenesis	GO:001525	9.4	MYH9, COL4A2, COL4A1, ITGA5, LAMA5
7	regulation of cell adhesion	GO:030155	9.4	LAMA5, LAMA2, LAMA1
8	regulation of cell migration	GO:030334	9.2	TGFB1, LAMA5, LAMA2, LAMA1
9	extracellular matrix organization	GO:030198	9.1	COL4A4, COL4A3, COL4A6, COL4A2, COL1A2, COL4A5
10	positive regulation of epithelial cell proliferation	GO:050679	8.9	BMP6, LAMB1, TGFB1
11	cell adhesion	GO:007155	8.8	COL4A3, COL4A6, ITGA5, ITGA2, LAMB1, LAMA2
12	blood coagulation	GO:007596	8.1	ITGA2, ITGA5, ALB, COL1A1, COL1A2, TGFB1
13	axon guidance	GO:007411	7.6	LAMA1, MYH9, COL4A4, COL4A3, COL4A2, COL1A2

Molecular functions related to alport syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	glycosphingolipid binding	GO:043208	10.0	LAMA1, LAMB1
2	platelet-derived growth factor binding	GO:048407	9.7	COL1A2, COL4A1, COL1A1
3	integrin binding	GO:005178	9.5	LAMA5, LAMB1, ITGA5
4	extracellular matrix structural constituent	GO:005201	8.4	LAMA1, COL4A4, COL4A3, COL4A6, COL4A2, COL1A2