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TBMN
MCID: ALP004
MIFTS: 66

Alport Syndrome (TBMN)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Alport Syndrome

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MalaCards integrated aliases for Alport Syndrome:

Name: Alport Syndrome 12 75 24 53 25 59 37 29 6 15
Hereditary Nephritis 12 24 25 17
Thin Basement Membrane Nephropathy 24 53
Hemorrhagic Hereditary Nephritis 53 25
Congenital Hereditary Hematuria 53 25
Hemorrhagic Familial Nephritis 53 25
Alport Syndrome, X-Linked 53 55
Hereditary Familial Congenital Hemorrhagic Nephritis 25
Hematuria-Nephropathy-Deafness Syndrome 25
Hereditary Interstitial Pyelonephritis 25
Familial Benign Essential Hematuria 53
Thin Basement Membrane Disease 24
Hematuric Hereditary Nephritis 25
Hereditary Hematuria Syndrome 25
Familial Hematuric Nephritis 53
Benign Hereditary Nephritis 53
Alport Deafness-Nephropathy 59
Benign Essential Hematuria 53
Thin Membrane Nephropathy 53
Benign Familial Hematuria 53
Nephritis, Hereditary 44
Familial Nephritis 24
Alports Syndrome 55
Syndrome, Alport 40
Tbmn 53

Characteristics:

Orphanet epidemiological data:

59
alport syndrome
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

GeneReviews:

24
Penetrance Penetrance may be decreased in adas; at present, data are insufficient to draw a definitive conclusion.

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Eye diseases Nephrological diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare eye diseases
Rare renal diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:10983
KEGG 37 H00581
MeSH 44 D009394
SNOMED-CT 68 57333009
MESH via Orphanet 45 D009394
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1567741
Orphanet 59 ORPHA63
UMLS 72 C0027706
Sources

Summaries for Alport Syndrome

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NIH Rare Diseases : 53 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 characteristic of 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 rarely in an autosomal dominant manner. In these cases, the condition is caused by mutations in the COL4A3 or COL4A4 genes. Diagnosis of the condition is based on family history of the condition, clinical signs, and specific testing such as a kidney biopsy. The diagnosis can be confirmed by genetic testing. Treatment may include use of a hearing aid, hemodialysis and peritoneal dialysis to treat those with end-stage renal failure, and kidney transplantation.

MalaCards based summary : Alport Syndrome, also known as hereditary nephritis, is related to alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome and hematuria, benign familial. An important gene associated with Alport Syndrome is COL4A5 (Collagen Type IV Alpha 5 Chain), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. The drugs Ramipril and HIV Protease Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include Kidney and Kidney, and related phenotypes are sensorineural hearing impairment and retinopathy

Disease Ontology : 12 A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.

Genetics Home Reference : 25 Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys become less able to function as this condition progresses, resulting in end-stage renal disease (ESRD). People with Alport syndrome frequently develop sensorineural hearing loss, which is caused by abnormalities of the inner ear, during late childhood or early adolescence. Affected individuals may also have misshapen lenses in the eyes (anterior lenticonus) and abnormal coloration of the light-sensitive tissue at the back of the eye (retina). These eye abnormalities seldom lead to vision loss. Significant hearing loss, eye abnormalities, and progressive kidney disease are more common in males with Alport syndrome than in affected females.

KEGG : 37
Alport syndrome is a hereditary hematuric nephropathy with frequent hearing loss and ocular anomalies. Defects of basement membranes arise from mutations in alpha 3, alpha 4, and alpha 5 type IV collagen chains. The mode of inheritance is either X-linked or autosomal recessive, although autosomal dominant form has been observed in a few families. Male patients with X-linked Alport syndrome suffer from severe renal symptoms that progress to end-stage renal disease associated with deafness which starts during the first decade of life, and ocular lesions including anterior lenticonus. Autosomal recessive Alport syndrome is usually severe, showing progressive nephritis and hearing impairment.

Wikipedia : 75 Alport syndrome is a genetic disorder affecting around 1 in 5,000-10,000 children, characterized by... more...

GeneReviews: NBK1207
Sources

Related Diseases for Alport Syndrome

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Diseases in the Alport Syndrome family:

Alport Syndrome 3, Autosomal Dominant Alport Syndrome 2, Autosomal Recessive
Autosomal Dominant Alport Syndrome Autosomal Recessive Alport Syndrome

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

(show top 50) (show all 217)
# Related Disease Score Top Affiliating Genes
1 alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 33.4 KCNE5 AMMECR1 ACSL4
2 hematuria, benign familial 32.6 COL4A5 COL4A4 COL4A3
3 glomerulonephritis 31.3 COL4A5 COL4A4 COL4A3
4 leiomyomatosis 30.9 COL4A6 COL4A5 COL4A4 COL4A3
5 goodpasture syndrome 30.5 COL4A5 COL4A4 COL4A3
6 kidney disease 30.4 MYH9 COL4A5 COL4A4 COL4A3
7 anti-basement membrane glomerulonephritis 30.3 COL4A5 COL4A4 COL4A3
8 focal segmental glomerulosclerosis 30.3 MYH9 COL4A5 COL4A4 COL4A3
9 autosomal recessive alport syndrome 12.8
10 autosomal dominant alport syndrome 12.7
11 alport syndrome 3, autosomal dominant 12.7
12 alport syndrome 2, autosomal recessive 12.7
13 alport syndrome 1, x-linked 12.6
14 x-linked alport syndrome 12.6
15 leiomyomatosis, diffuse, with alport syndrome 12.5
16 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 12.2
17 amme complex 12.2
18 x-linked alport syndrome-diffuse leiomyomatosis 12.2
19 nephropathy with pretibial epidermolysis bullosa and deafness 11.7
20 dyschondrosteosis and nephritis 11.6
21 renal failure, progressive, with hypertension 11.6
22 nephrocalcinosis 11.2
23 end stage renal failure 10.8
24 branchiootic syndrome 1 10.8
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
26 sensorineural hearing loss 10.7
27 intravenous leiomyomatosis 10.7
28 basement membrane disease 10.5
29 macular holes 10.5
30 chronic kidney disease 10.5
31 cataract 10.4
32 glomerular disease 10.4
33 nephrotic syndrome 10.4
34 corneal dystrophy 10.3
35 autosomal recessive disease 10.3
36 renal fibrosis 10.3
37 polycystic kidney disease 10.3
38 47,xyy 10.3
39 corneal dystrophy, posterior polymorphous, 1 10.2
40 primary glomerular disease 10.2
41 astigmatism 10.2
42 proliferative glomerulonephritis 10.2
43 mesangial proliferative glomerulonephritis 10.2
44 malignant cylindroma 10.2 COL4A5 COL4A1
45 pre-eclampsia 10.2
46 myopia 10.2
47 irregular astigmatism 10.2
48 collagen disease 10.2
49 overgrowth syndrome 10.2
50 acute kidney tubular necrosis 10.1

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



Diseases related to Alport Syndrome
Sources

Symptoms & Phenotypes for Alport Syndrome

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Human phenotypes related to Alport Syndrome:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
2 retinopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000488
3 hematuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000790
4 glomerulopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100820
5 morphological abnormality of the semicircular canal 59 32 hallmark (90%) Very frequent (99-80%) HP:0011380
6 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
7 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
8 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
9 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
10 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
11 dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002094
12 pallor 59 32 frequent (33%) Frequent (79-30%) HP:0000980
13 dry skin 59 32 frequent (33%) Frequent (79-30%) HP:0000958
14 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
15 nephrotic syndrome 59 32 frequent (33%) Frequent (79-30%) HP:0000100
16 headache 59 32 frequent (33%) Frequent (79-30%) HP:0002315
17 lentiglobus 59 32 frequent (33%) Frequent (79-30%) HP:0011527
18 periorbital edema 59 32 frequent (33%) Frequent (79-30%) HP:0100539
19 tinnitus 59 32 frequent (33%) Frequent (79-30%) HP:0000360
20 leukopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001882
21 pedal edema 32 frequent (33%) HP:0010741
22 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
23 photophobia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000613
24 vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002013
25 subcutaneous nodule 59 32 occasional (7.5%) Occasional (29-5%) HP:0001482
26 corneal dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001131
27 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
28 thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001873
29 abdominal situs inversus 59 32 occasional (7.5%) Occasional (29-5%) HP:0003363
30 neoplasm of the colon 59 32 occasional (7.5%) Occasional (29-5%) HP:0100273
31 diffuse leiomyomatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006756
32 macular dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007754
33 uterine neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0010784
34 edema of the lower limbs 59 Frequent (79-30%)

MGI Mouse Phenotypes related to Alport Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.08 ACSL4 COL1A1 COL4A1 COL4A2 COL4A3 COL4A5
2 growth/size/body region MP:0005378 10.06 ACSL4 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4
3 homeostasis/metabolism MP:0005376 10.02 ACSL4 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4
4 hearing/vestibular/ear MP:0005377 9.98 ACSL4 COL1A1 COL4A2 COL4A3 COL4A4 LAMA5
5 hematopoietic system MP:0005397 9.95 ACSL4 COL1A1 COL4A1 COL4A2 COL4A5 LAMA5
6 immune system MP:0005387 9.92 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
7 mortality/aging MP:0010768 9.81 ACSL4 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4
8 limbs/digits/tail MP:0005371 9.56 ACSL4 COL1A1 COL4A2 LAMA5
9 renal/urinary system MP:0005367 9.5 COL1A1 COL4A1 COL4A3 COL4A4 COL4A5 LAMA5
10 vision/eye MP:0005391 9.23 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
Sources

Drugs & Therapeutics for Alport Syndrome

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Drugs for Alport Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ramipril Approved Phase 3 87333-19-5 5362129
2 HIV Protease Inhibitors Phase 3
3
protease inhibitors Phase 3
4 Angiotensin-Converting Enzyme Inhibitors Phase 3
5 Antihypertensive Agents Phase 3
6
Angiotensin II Approved, Investigational Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198
7
Benazepril Approved, Investigational Phase 2 86541-75-5 5362124
8
Valsartan Approved, Investigational Phase 2 137862-53-4 60846
9 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
10 Angiotensinogen Phase 2
11 Giapreza Phase 2
12 Angiotensin Receptor Antagonists Phase 2
13 Angiotensin II Type 1 Receptor Blockers Phase 2
14 Liver Extracts Phase 2
15 Hypolipidemic Agents Phase 2
16 Lipid Regulating Agents Phase 2
17 Anticholesteremic Agents Phase 2
18 Antimetabolites Phase 2
19 Pharmaceutical Solutions Phase 2
20
Enalapril Approved, Vet_approved 75847-73-3 5362032 40466924
21
Enalaprilat Approved 76420-72-9 6917719
22
Spironolactone Approved 1952-01-7, 52-01-7 5833
23 diuretics
24 Diuretics, Potassium Sparing
25 Natriuretic Agents
26 Hormones
27 Mineralocorticoid Receptor Antagonists
28 Hormone Antagonists
29 Mineralocorticoids
30 Hormones, Hormone Substitutes, and Hormone Antagonists

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 An Extended Access Program to Assess Long Term Safety of Bardoxolone Methyl in Patients With Chronic Kidney Disease Recruiting NCT03749447 Phase 3 Bardoxolone methyl
2 A Phase 2/3 Trial of the Efficacy and Safety of Bardoxolone Methyl in Patients With Alport Syndrome Active, not recruiting NCT03019185 Phase 2, Phase 3 Placebo Oral Capsule;Bardoxolone Methyl
3 Early Prospective Therapy Trial to Delay Renal Failure in Children With Alport Syndrome Active, not recruiting NCT01485978 Phase 3 Ramipril;placebo to ramipril;Ramipril
4 Effects of an Intensified Treatment With ACE-inhibitors, Angiotensin II Receptor Antagonists and Statins in Alport Syndrome Completed NCT00309257 Phase 2 ACE I, ATA II and Statins;Benazepril, Valsartan and Fluvastatin
5 A Phase 2, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety, Efficacy, Pharmacodynamics, and Pharmacokinetics of SAR339375 for Subcutaneous Injection Administered Every Week in Patients With Alport Syndrome Suspended NCT02855268 Phase 2 SAR339375;Placebo
6 A Phase 1, Open-Label Study to Evaluate the Safety, Pharmacodynamics, and Pharmacokinetics of RG-012 for Injection, Including Its Effect on Renal microRNA-21, in Subjects With Alport Syndrome Completed NCT03373786 Phase 1 RG012
7 Aluminum and Auditory Function in ESRD Unknown status NCT00243958
8 Collagen Type 4-related Nephropathies: From Alport to Thin Membrane Nephropathy. A Series of Cases Treated With Angiotensin Converting Enzyme Inhibitor Completed NCT01465126
9 A Natural History Study to Observe Disease Progression, Standard of Care and Investigate Biomarkers in Alport Syndrome Patients Completed NCT02136862
10 A Prospective Study of Microalbuminuria in Untreated Boys With Alport Syndrome Completed NCT00622544
11 Urinary Biomarkers of the Progression of Alport Kidney Disease Completed NCT01705132
12 Multi-center Controlled Clinical Trials in Alport Syndrome-A Feasibility Study Completed NCT01696253
13 European Alport Therapy Registry - European Initiative Towards Delaying Renal Failure in Alport Syndrome: Current and Novel Therapies Recruiting NCT02378805 ACE-inhibitor;AT1-inhibitor;HMG-Coenzyme inhibitor (statin);Spironolactone;Paricalcitol
14 Alport Syndrome Treatments and Outcomes Registry Recruiting NCT00481130
15 Biomarker for Alport Disease - An International, Multi-center, Epidemiological Protocol Recruiting NCT02718027
16 Human Urine Sample Collection for Alport Nephropathy Biomarker Studies Terminated NCT01602835

Search NIH Clinical Center for Alport Syndrome

Cochrane evidence based reviews: nephritis, hereditary

Sources

Genetic Tests for Alport Syndrome

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Genetic tests related to Alport Syndrome:

# Genetic test Affiliating Genes
1 Alport Syndrome 29
Sources

Anatomical Context for Alport Syndrome

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MalaCards organs/tissues related to Alport Syndrome:

41
Kidney, Eye, Testes, Retina, Skin, Bone, Smooth Muscle
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Alport Syndrome:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Glomerular Basement Membrane Affected by disease
2 Kidney Podocyte Layer Podocytes Affected by disease, potential therapeutic candidate
Sources

Publications for Alport Syndrome

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Articles related to Alport Syndrome:

(show top 50) (show all 1412)
# Title Authors PMID Year
1
Immunohistochemical and molecular genetic evidence for type IV collagen alpha5 chain abnormality in the anterior lenticonus associated with Alport syndrome. 9 38 71
12796257 2003
2
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. 9 38 71
11134255 2001
3
Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q. 9 38 71
9150741 1997
4
The clinical spectrum of type IV collagen mutations. 9 38 71
9195222 1997
5
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome. 9 38 71
8825605 1995
6
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. 9 38 71
7987301 1994
7
DNA rearrangements in the alpha 5(IV) collagen gene (COL4A5) of individuals with Alport syndrome: further refinement using pulsed-field gel electrophoresis. 9 38 71
1330889 1992
8
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. 9 38 71
1376965 1992
9
Mutation in the alpha 5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product. 9 38 71
1598909 1992
10
Alport syndrome caused by a 5' deletion within the COL4A5 gene. 9 38 71
1577459 1992
11
Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome. 9 38 71
1672282 1991
12
Identification of mutations in the COL4A5 collagen gene in Alport syndrome. 9 38 71
2349482 1990
13
A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population. 38 71
23927549 2014
14
Clinical utility gene card for: Alport syndrome. 38 71
22166944 2012
15
Genotype-phenotype correlation in X-linked Alport syndrome. 9 38 4
20378821 2010
16
A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome. 9 38 4
16941480 2006
17
A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia. 9 38 4
15149316 2004
18
Novel COL4A4 splice defect and in-frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome. 9 38 4
12748344 2003
19
Alport syndrome associated with diffuse leiomyomatosis: COL4A5-COL4A6 deletion associated with a mild form of Alport nephropathy. 9 38 4
11773466 2002
20
Alport Syndrome 38 71
20301386 2001
21
Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. 38 71
11044206 2000
22
Detection of mutations in COL4A5 in patients with Alport syndrome. 9 38 4
10094548 1999
23
Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. 38 71
9792860 1998
24
Alport syndrome in Réunion Island: phenotypic heterogeneity of the recessive-autosomal form. 38 71
9647515 1998
25
Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). 38 71
9269635 1997
26
A mutation causing Alport syndrome with tardive hearing loss is common in the western United States. 38 71
8651292 1996
27
Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome. 9 38 4
8599366 1995
28
Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome. 38 71
7633417 1995
29
Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. 38 71
7987396 1994
30
Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors. 9 38 4
8356449 1993
31
Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient. 38 71
1352287 1992
32
De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome. 38 71
1363780 1992
33
Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome. 38 71
1783380 1991
34
X-linked inheritance of Alport syndrome: family P revisited. 38 71
6650503 1983
35
Germline mosaicism is a pitfall in the diagnosis of "sporadic" X-linked Alport syndrome. 38 4
30062677 2019
36
Should We Diagnose Autosomal Dominant Alport Syndrome When There Is a Pathogenic Heterozygous COL4A3 or COL4A4 Variant? 38 4
30450445 2018
37
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases. 38 4
29801666 2018
38
Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group. 38 4
29551517 2018
39
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome. 38 4
29098738 2018
40
Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis. 38 4
28275241 2017
41
Evidence of digenic inheritance in Alport syndrome. 38 4
25575550 2015
42
Improving mutation screening in familial hematuric nephropathies through next generation sequencing. 38 4
24854265 2014
43
Natural history of genetically proven autosomal recessive Alport syndrome. 38 4
24633401 2014
44
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. 38 4
24033287 2014
45
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. 38 4
24052634 2013
46
Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome. 38 4
23732293 2013
47
Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative. 38 4
22461141 2013
48
Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy. 38 4
22166847 2012
49
The value of clinical criteria in identifying patients with X-linked Alport syndrome. 38 4
20884774 2011
50
Aortic abnormalities in males with Alport syndrome. 38 4
20494893 2010
Sources

Variations for Alport Syndrome

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ClinVar genetic disease variations for Alport Syndrome:

6 (show top 50) (show all 242)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL4A5 NM_000495.5(COL4A5): c.1147G> C (p.Gly383Arg) single nucleotide variant Pathogenic X:107829959-107829959 X:108586729-108586729
2 COL4A3 NM_000091.4(COL4A3): c.1381G> C (p.Gly461Arg) single nucleotide variant Likely pathogenic rs1135401954 2:228131198-228131198 2:227266482-227266482
3 COL4A4 NM_000092.4(COL4A4): c.4217-15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs200926310 2:227877028-227877028 2:227012312-227012312
4 COL4A4 NM_000092.4(COL4A4): c.5016A> G (p.Glu1672=) single nucleotide variant Conflicting interpretations of pathogenicity rs34761049 2:227872098-227872098 2:227007382-227007382
5 COL4A4 NM_000092.4(COL4A4): c.4090+14T> C single nucleotide variant Conflicting interpretations of pathogenicity rs147376687 2:227890504-227890504 2:227025788-227025788
6 COL4A4 NM_000092.4(COL4A4): c.2717-5A> T single nucleotide variant Conflicting interpretations of pathogenicity rs1800519 2:227919458-227919458 2:227054742-227054742
7 COL4A4 NM_000092.4(COL4A4): c.2630G> A (p.Arg877Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs150979437 2:227920747-227920747 2:227056031-227056031
8 COL4A3 NM_000091.4(COL4A3): c.4893C> T (p.Phe1631=) single nucleotide variant Conflicting interpretations of pathogenicity rs183218622 2:228175629-228175629 2:227310913-227310913
9 COL4A3 NM_000091.4(COL4A3): c.3258G> A (p.Gly1086=) single nucleotide variant Conflicting interpretations of pathogenicity rs147085074 2:228157954-228157954 2:227293238-227293238
10 COL4A3 NM_000091.4(COL4A3): c.3270A> C (p.Pro1090=) single nucleotide variant Conflicting interpretations of pathogenicity rs201989155 2:228157966-228157966 2:227293250-227293250
11 COL4A4 NM_000092.4(COL4A4): c.4195A> T (p.Met1399Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149117087 2:227886785-227886785 2:227022069-227022069
12 COL4A4 NM_000092.4(COL4A4): c.193-9C> G single nucleotide variant Conflicting interpretations of pathogenicity rs190570269 2:227985873-227985873 2:227121157-227121157
13 COL4A3 NM_000091.4(COL4A3): c.4494C> G (p.Thr1498=) single nucleotide variant Conflicting interpretations of pathogenicity rs200454769 2:228173646-228173646 2:227308930-227308930
14 COL4A4 NM_000092.4(COL4A4): c.736-10T> G single nucleotide variant Conflicting interpretations of pathogenicity rs201175819 2:227968778-227968778 2:227104062-227104062
15 COL4A3 NM_000091.4(COL4A3): c.1927G> A (p.Gly643Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs778034451 2:228137833-228137833 2:227273117-227273117
16 COL4A3 NM_000091.4(COL4A3): c.-13G> C single nucleotide variant Conflicting interpretations of pathogenicity rs770803750 2:228029430-228029430 2:227164714-227164714
17 COL4A4 NM_000092.4(COL4A4): c.2367A> T (p.Gly789=) single nucleotide variant Conflicting interpretations of pathogenicity rs56247709 2:227924137-227924137 2:227059421-227059421
18 COL4A4 NM_000092.4(COL4A4): c.2079C> T (p.Pro693=) single nucleotide variant Conflicting interpretations of pathogenicity rs200010601 2:227924937-227924937 2:227060221-227060221
19 COL4A4 NM_000092.4(COL4A4): c.4082-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs139571413 2:227890534-227890534 2:227025818-227025818
20 COL4A3 NM_000091.4(COL4A3): c.3566-9T> C single nucleotide variant Conflicting interpretations of pathogenicity rs147886850 2:228162381-228162381 2:227297665-227297665
21 COL4A3 NM_000091.4(COL4A3): c.*1069_*1070dup duplication Uncertain significance rs11297279 2:228177655-228177656 2:227312939-227312940
22 COL4A3 NM_000091.4(COL4A3): c.*1070del deletion Uncertain significance rs11297279 2:228177656-228177656 2:227312940-227312940
23 COL4A4 NM_000092.4(COL4A4): c.2717-15C> A single nucleotide variant Uncertain significance rs143886681 2:227919468-227919468 2:227054752-227054752
24 COL4A4 NM_000092.4(COL4A4): c.2378C> T (p.Ala793Val) single nucleotide variant Uncertain significance rs377676207 2:227924126-227924126 2:227059410-227059410
25 COL4A4 NM_000092.4(COL4A4): c.2335C> G (p.Pro779Ala) single nucleotide variant Uncertain significance rs886055725 2:227924169-227924169 2:227059453-227059453
26 COL4A4 NM_000092.4(COL4A4): c.2159C> T (p.Pro720Leu) single nucleotide variant Uncertain significance rs749186337 2:227924857-227924857 2:227060141-227060141
27 COL4A4 NM_000092.4(COL4A4): c.931-14dupT duplication Uncertain significance rs746509796 2:227966639-227966639 2:227101923-227101923
28 COL4A4 NM_000092.4(COL4A4): c.816+12A> T single nucleotide variant Uncertain significance rs886055728 2:227968676-227968676 2:227103960-227103960
29 COL4A4 NM_000092.4(COL4A4): c.-555G> A single nucleotide variant Uncertain significance rs79908084 2:228029176-228029176 2:227164460-227164460
30 COL4A3 NM_000091.4(COL4A3): c.2489-8G> A single nucleotide variant Uncertain significance rs201846272 2:228147073-228147073 2:227282357-227282357
31 COL4A3 NM_000091.4(COL4A3): c.2747-11C> A single nucleotide variant Uncertain significance rs886055739 2:228148916-228148916 2:227284200-227284200
32 COL4A3 NM_000091.4(COL4A3): c.2881+6G> T single nucleotide variant Uncertain significance rs886055740 2:228149067-228149067 2:227284351-227284351
33 COL4A3 NM_000091.4(COL4A3): c.3196C> T (p.Pro1066Ser) single nucleotide variant Uncertain significance rs377003650 2:228155588-228155588 2:227290872-227290872
34 COL4A4 NM_000092.4(COL4A4): c.*4583A> G single nucleotide variant Uncertain significance rs886055698 2:227867458-227867458 2:227002742-227002742
35 COL4A4 NM_000092.4(COL4A4): c.*4385A> G single nucleotide variant Uncertain significance rs574071910 2:227867656-227867656 2:227002940-227002940
36 COL4A4 NM_000092.4(COL4A4): c.*4173A> T single nucleotide variant Uncertain significance rs529259159 2:227867868-227867868 2:227003152-227003152
37 COL4A4 NM_000092.4(COL4A4): c.*3876G> A single nucleotide variant Uncertain significance rs184473858 2:227868165-227868165 2:227003449-227003449
38 COL4A4 NM_000092.4(COL4A4): c.*3636C> T single nucleotide variant Uncertain significance rs147995299 2:227868405-227868405 2:227003689-227003689
39 COL4A4 NM_000092.4(COL4A4): c.*3467C> G single nucleotide variant Uncertain significance rs752632630 2:227868574-227868574 2:227003858-227003858
40 COL4A4 NM_000092.4(COL4A4): c.*3410_*3411del deletion Uncertain significance rs528949461 2:227868630-227868631 2:227003914-227003915
41 COL4A4 NM_000092.4(COL4A4): c.*3159C> A single nucleotide variant Uncertain significance rs559222889 2:227868882-227868882 2:227004166-227004166
42 COL4A4 NM_000092.4(COL4A4): c.*2945T> C single nucleotide variant Uncertain significance rs886055707 2:227869096-227869096 2:227004380-227004380
43 COL4A4 NM_000092.4(COL4A4): c.*2311C> T single nucleotide variant Uncertain significance rs77079951 2:227869730-227869730 2:227005014-227005014
44 COL4A4 NM_000092.4(COL4A4): c.*2119_*2120dup duplication Uncertain significance rs56983325 2:227869921-227869922 2:227005205-227005206
45 COL4A4 NM_000092.4(COL4A4): c.*2120dup duplication Uncertain significance rs56983325 2:227869921-227869921 2:227005205-227005205
46 COL4A4 NM_000092.4(COL4A4): c.*841G> A single nucleotide variant Uncertain significance rs11556632 2:227871200-227871200 2:227006484-227006484
47 COL4A4 NM_000092.4(COL4A4): c.2586T> C (p.Pro862=) single nucleotide variant Uncertain significance rs761238651 2:227920791-227920791 2:227056075-227056075
48 COL4A4 NM_000092.4(COL4A4): c.*569C> A single nucleotide variant Uncertain significance rs772402371 2:227871472-227871472 2:227006756-227006756
49 COL4A4 NM_000092.4(COL4A4): c.*321A> G single nucleotide variant Uncertain significance rs886055721 2:227871720-227871720 2:227007004-227007004
50 COL4A4 NM_000092.4(COL4A4): c.*22C> A single nucleotide variant Uncertain significance rs562265530 2:227872019-227872019 2:227007303-227007303
Sources

Expression for Alport Syndrome

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Search GEO for disease gene expression data for Alport Syndrome.
Sources

Pathways for Alport Syndrome

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Pathways related to Alport Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512

Pathways related to Alport Syndrome according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.73 MYH9 LAMA5 COL4A6 COL4A5 COL4A4 COL4A3
2
Integrin Pathway 64
Show member pathways
 13.37 MYH9 LAMA5 COL4A6 COL4A5 COL4A4 COL4A3
3
Developmental Biology 66
Show member pathways
 13.31 MYH9 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
4
Phospholipase-C Pathway 64
Show member pathways
 13.05 LAMA5 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
5
RNA Polymerase II Transcription Initiation And Promoter Clearance 66
Show member pathways
 13.03 MYH9 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
6
Circadian entrainment 37
Show member pathways
 13.01 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
7
PI3K-Akt signaling pathway 37
Show member pathways
 12.97 LAMA5 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
8
Focal Adhesion 37 1
Show member pathways
 12.89 LAMA5 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
9
Pathways in cancer 37
12.86 LAMA5 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
10
Collagen chain trimerization 66
Show member pathways
 12.85 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
11
Degradation of the extracellular matrix 66
Show member pathways
 12.73 LAMA5 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
12
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 22
Show member pathways
 12.62 MYH9 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
13
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 22
Show member pathways
 12.19 MYH9 LAMA5 COL4A6 COL4A5 COL4A4 COL4A3
14
ECM-receptor interaction 37
Show member pathways
 12.05 LAMA5 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
15
AGE-RAGE signaling pathway in diabetic complications 37
11.91 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
16
Small cell lung cancer 37
11.83 LAMA5 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
17
Binding and Uptake of Ligands by Scavenger Receptors 66
Show member pathways
 11.81 COL4A2 COL4A1 COL1A1
18
Primary Focal Segmental Glomerulosclerosis FSGS 1
11.81 MYH9 LAMA5 COL4A5 COL4A4 COL4A3
19
Cell adhesion_Plasmin signaling 22
11.57 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
20
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 61
11.49 COL4A2 COL4A1 COL1A1
21
Cell adhesion_ECM remodeling 22
11.49 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
22
NCAM1 interactions 66
11.46 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
23
miRNA targets in ECM and membrane receptors 1
11.27 COL4A2 COL4A1
24
Amoebiasis 37
11.23 LAMA5 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
25
Inflammatory Response Pathway 1
11.15 LAMA5 COL1A1
26
Cell adhesion_Endothelial cell contacts by non-junctional mechanisms 22
11.1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
27
G-protein signaling_Rap2B regulation pathway 22
11.02 LAMA5 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
Sources

GO Terms for Alport Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.91 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
2 collagen-containing extracellular matrix GO:0062023 9.87 LAMA5 COL4A6 COL4A5 COL4A3 COL4A2 COL4A1
3 extracellular matrix GO:0031012 9.86 LAMA5 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
4 basement membrane GO:0005604 9.7 LAMA5 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
5 neuromuscular junction GO:0031594 9.63 MYH9 LAMA5 COL4A5
6 collagen trimer GO:0005581 9.5 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
7 collagen type IV trimer GO:0005587 9.1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
8 extracellular region GO:0005576 10.03 LAMA5 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
9 extracellular space GO:0005615 10.01 LAMA5 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.71 MYH9 LAMA5 COL4A6 COL4A3
2 angiogenesis GO:0001525 9.56 MYH9 LAMA5 COL4A4 COL4A2
3 extracellular matrix organization GO:0030198 9.56 LAMA5 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
4 neuromuscular junction development GO:0007528 9.37 COL4A5 COL4A1
5 cellular response to amino acid stimulus GO:0071230 9.33 COL4A6 COL4A1 COL1A1
6 glomerular basement membrane development GO:0032836 9.32 COL4A4 COL4A3
7 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.1 COL4A6 COL4A5 COL4A3 COL4A2 COL4A1 COL1A1

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.43 MYH9 LAMA5 COL4A3
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.43 COL4A6 COL4A5 COL4A3 COL4A2 COL4A1 COL1A1
3 extracellular matrix structural constituent GO:0005201 9.23 LAMA5 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
4 platelet-derived growth factor binding GO:0048407 9.16 COL4A1 COL1A1
Sources

Sources for Alport Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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