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MCID: ALP004
MIFTS: 70

Alport Syndrome

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 73 25 20 43 58 36 29 6 15 70
Hereditary Nephritis 12 25 43 17 70
Hemorrhagic Hereditary Nephritis 20 43 70
Alport Syndrome, X-Linked 20 54 70
Congenital Hereditary Hematuria 20 43
Hemorrhagic Familial Nephritis 20 43
Hereditary Familial Congenital Hemorrhagic Nephritis 43
Hematuria-Nephropathy-Deafness Syndrome 43
Hereditary Interstitial Pyelonephritis 43
Thin Basement Membrane Nephropathy 25
Alport Hearing Loss-Nephropathy 58
Thin Basement Membrane Disease 25
Hematuric Hereditary Nephritis 43
Hereditary Hematuria Syndrome 43
Alport Deafness-Nephropathy 58
Nephritis, Hereditary 44
Familial Nephritis 25
Alports Syndrome 54
Syndrome, Alport 39

Characteristics:

Orphanet epidemiological data:

58
alport syndrome
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

GeneReviews:

25
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: 33
Orphanet: 58  
Rare eye diseases
Rare renal diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:10983
KEGG 36 H00581
MeSH 44 D009394
SNOMED-CT 67 57333009
MESH via Orphanet 45 D009394
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 71 C1567741
Orphanet 58 ORPHA63
UMLS 70 C0027706 C1567741 C1567742 more
Sources

Summaries for Alport Syndrome

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GARD : 20 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 3, autosomal dominant and amme complex. 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 Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include Kidney, and related phenotypes are thin glomerular basement membrane and glomerular basement membrane lamellation

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

MedlinePlus Genetics : 43 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 : 36 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 : 73 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 256)
# Related Disease Score Top Affiliating Genes
1 alport syndrome 3, autosomal dominant 33.2 MFF-DT COL4A4 COL4A3
2 amme complex 33.2 KCNE5 COL4A5 AMMECR1 ACSL4
3 alport syndrome 1, x-linked 33.1 COL4A5 COL4A4
4 autosomal recessive alport syndrome 33.1 NPHS2 MYH9 MFF-DT COL4A6 COL4A5 COL4A4
5 autosomal dominant alport syndrome 33.0 NPHS2 MYH9 MFF-DT COL4A6 COL4A5 COL4A4
6 x-linked alport syndrome 32.7 MYH9 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
7 x-linked alport syndrome-diffuse leiomyomatosis 32.5 COL4A6 COL4A5
8 hematuria, benign familial 32.0 NPHS2 MFF-DT COL4A6 COL4A5 COL4A4 COL4A3
9 proteinuria, chronic benign 31.9 NPHS2 MFF-DT COL4A5 COL4A4 COL4A3 ALB
10 leiomyomatosis 31.7 COL4A6 COL4A5 COL4A4 COL4A3
11 sensorineural hearing loss 31.6 MYH9 KCNE5 COL4A6 COL4A5 AMMECR1
12 end stage renal disease 31.6 NPHS2 MYH9 COL4A5 COL4A4 COL4A3 CFH
13 glomerulonephritis 31.5 NPHS2 MYH9 COL4A5 COL4A4 COL4A3 CFH
14 kidney disease 31.3 NPHS2 MYH9 MIR21 COL4A5 COL4A4 COL4A3
15 chronic kidney disease 31.1 NPHS2 MYH9 MIR21 COL4A5 COL4A4 COL4A3
16 focal segmental glomerulosclerosis 31.0 NPHS2 MYH9 LAMB2 COL4A5 COL4A4 COL4A3
17 nephrotic syndrome 30.9 NPHS2 MYH9 MFF-DT LAMB2 LAMA5 COL4A5
18 irregular astigmatism 30.9 COL4A4 COL4A3
19 goodpasture syndrome 30.9 COL4A5 COL4A4 COL4A3 ALB
20 iga glomerulonephritis 30.8 NPHS2 CFH ALB
21 anti-basement membrane glomerulonephritis 30.7 COL4A5 COL4A4 COL4A3 ALB
22 familial nephrotic syndrome 30.6 NPHS2 COL4A5 COL4A4 COL4A3 ALB
23 keratoconus 30.6 COL4A4 COL4A3 COL4A2 COL4A1
24 pierson syndrome 30.4 NPHS2 LAMB2 LAMB1 LAMA5 COL4A5 COL4A4
25 hemolytic uremic syndrome, atypical 1 30.3 COL4A5 CFH ALB
26 idiopathic nephrotic syndrome 30.1 NPHS2 ALB
27 alport syndrome 2, autosomal recessive 11.6
28 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.6
29 leiomyomatosis, diffuse, with alport syndrome 11.4
30 dyschondrosteosis and nephritis 11.3
31 nephropathy with pretibial epidermolysis bullosa and deafness 11.2
32 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 11.0
33 nephrocalcinosis 11.0
34 branchiootic syndrome 1 10.8
35 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
36 intravenous leiomyomatosis 10.6
37 malignant cylindroma 10.5 COL4A5 COL4A1
38 acquired porencephaly 10.5 COL4A2 COL4A1
39 idiopathic steroid-resistant nephrotic syndrome 10.5 NPHS2 ALB
40 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 10.5 COL4A2 COL4A1
41 ehlers-danlos/osteogenesis imperfecta syndrome 10.5 COL1A2 COL1A1
42 brain small vessel disease 1 with or without ocular anomalies 10.5 COL4A2 COL4A1
43 macular holes 10.5
44 col1a1/2 osteogenesis imperfecta 10.5 COL1A2 COL1A1
45 rapidly progressive glomerulonephritis 10.5 COL4A4 COL4A3 ALB
46 nail-patella syndrome 10.5 NPHS2 COL4A4 COL4A3
47 ehlers-danlos syndrome, arthrochalasia type, 1 10.5 COL1A1 ALB
48 acute proliferative glomerulonephritis 10.5 NPHS2 COL4A3 ALB
49 nephrotic syndrome, type 5, with or without ocular abnormalities 10.5 LAMB2 COL4A6
50 high bone mass osteogenesis imperfecta 10.5 COL1A2 COL1A1

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:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thin glomerular basement membrane 58 31 hallmark (90%) Very frequent (99-80%) HP:0012577
2 glomerular basement membrane lamellation 31 hallmark (90%) HP:0030034
3 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
4 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
5 mesangial hypercellularity 58 31 frequent (33%) Frequent (79-30%) HP:0012574
6 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
7 nephrotic syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0000100
8 stage 5 chronic kidney disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0003774
9 microscopic hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002907
10 recurrent corneal erosions 58 31 occasional (7.5%) Occasional (29-5%) HP:0000495
11 renal tubular atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000092
12 focal segmental glomerulosclerosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000097
13 tubulointerstitial fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005576
14 nephritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000123
15 abnormal corneal endothelium morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0011488
16 retinal flecks 58 31 occasional (7.5%) Occasional (29-5%) HP:0012045
17 anterior lenticonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0011501
18 iga deposition in the glomerulus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000794
19 glomerular c3 deposition 58 31 occasional (7.5%) Occasional (29-5%) HP:0012576
20 thickening of glomerular capillary wall 58 31 occasional (7.5%) Occasional (29-5%) HP:0025005
21 renal glomerular foam cells 58 31 occasional (7.5%) Occasional (29-5%) HP:0032583
22 thickened glomerular basement membrane 31 occasional (7.5%) HP:0004722
23 dysphagia 58 31 very rare (1%) Very rare (<4-1%) HP:0002015
24 vomiting 58 31 very rare (1%) Very rare (<4-1%) HP:0002013
25 dyspnea 58 31 very rare (1%) Very rare (<4-1%) HP:0002094
26 cough 58 31 very rare (1%) Very rare (<4-1%) HP:0012735
27 stridor 58 31 very rare (1%) Very rare (<4-1%) HP:0010307
28 macular degeneration 58 31 very rare (1%) Very rare (<4-1%) HP:0000608
29 aortic aneurysm 58 31 very rare (1%) Very rare (<4-1%) HP:0004942
30 recurrent bronchitis 58 31 very rare (1%) Very rare (<4-1%) HP:0002837
31 clitoral hypertrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0008665
32 diffuse leiomyomatosis 58 31 very rare (1%) Very rare (<4-1%) HP:0006756
33 epigastric pain 58 31 very rare (1%) Very rare (<4-1%) HP:0410019
34 posterior subcapsular cataract 58 31 very rare (1%) Very rare (<4-1%) HP:0007787
35 renal insufficiency 58 Frequent (79-30%)
36 hematuria 58 Very frequent (99-80%)
37 abnormality of the eye 58 Occasional (29-5%)
38 abnormal aortic morphology 58 Very rare (<4-1%)
39 diffuse glomerular basement membrane lamellation 58 Very frequent (99-80%)
40 thickening of the glomerular basement membrane 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Alport Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 ACSL4 CFH COL1A1 COL1A2 COL4A1 COL4A2
2 cardiovascular system MP:0005385 10.23 ACSL4 ALB CFH COL1A1 COL1A2 COL4A1
3 homeostasis/metabolism MP:0005376 10.17 ACSL4 ALB CFH COL1A1 COL1A2 COL4A1
4 hematopoietic system MP:0005397 10.11 ACSL4 CFH COL1A1 COL1A2 COL4A1 COL4A2
5 immune system MP:0005387 10.03 ALB CFH COL1A1 COL1A2 COL4A1 COL4A2
6 mortality/aging MP:0010768 10.03 ACSL4 ALB CFH COL1A1 COL1A2 COL4A1
7 hearing/vestibular/ear MP:0005377 9.88 COL1A1 COL4A2 COL4A3 COL4A4 LAMA5 MYH9
8 renal/urinary system MP:0005367 9.7 ALB CFH COL1A1 COL4A1 COL4A3 COL4A4
9 vision/eye MP:0005391 9.32 CFH COL1A1 COL4A1 COL4A2 COL4A3 COL4A4
Sources

Drugs & Therapeutics for Alport Syndrome

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ramipril Approved Phase 3 87333-19-5 5362129
2 Antihypertensive Agents Phase 3
3 Angiotensin-Converting Enzyme Inhibitors Phase 3
4
protease inhibitors Phase 3
5 HIV Protease Inhibitors Phase 3
6
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 11128-99-7, 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
Atrasentan Investigational Phase 2 173937-91-2, 195733-43-8 159594
10 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
11 Giapreza Phase 2
12 Angiotensinogen Phase 2
13 Angiotensin Receptor Antagonists Phase 2
14 Liver Extracts Phase 2
15 Angiotensin II Type 1 Receptor Blockers Phase 2
16 Pharmaceutical Solutions Phase 2
17 Endothelin Receptor Antagonists Phase 2
18 Endothelin A Receptor Antagonists Phase 2
19
Spironolactone Approved 1952-01-7, 52-01-7 5833
20 Mineralocorticoids
21 Hormone Antagonists
22 diuretics
23 Hormones
24 Mineralocorticoid Receptor Antagonists
25 Diuretics, Potassium Sparing

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 A Phase 2/3 Trial of the Efficacy and Safety of Bardoxolone Methyl in Patients With Alport Syndrome Completed NCT03019185 Phase 2, Phase 3 Placebo Oral Capsule;Bardoxolone Methyl
2 Early Prospective Therapy Trial to Delay Renal Failure in Children With Alport Syndrome Completed NCT01485978 Phase 3 Ramipril;placebo to ramipril;Ramipril
3 An Extended Access Program to Assess Long Term Safety of Bardoxolone Methyl in Patients With Chronic Kidney Disease Recruiting NCT03749447 Phase 3 Bardoxolone methyl
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 Lademirsen (SAR339375) for Subcutaneous Injection Administered Every Week in Patients With Alport Syndrome Recruiting NCT02855268 Phase 2 lademirsen (SAR339375);Placebo
6 A Phase 2, Open-Label, Basket Study of Atrasentan in Patients With Proteinuric Glomerular Diseases Recruiting NCT04573920 Phase 2 Atrasentan
7 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
8 A Prospective Study of Microalbuminuria in Untreated Boys With Alport Syndrome Completed NCT00622544
9 Multi-center Controlled Clinical Trials in Alport Syndrome-A Feasibility Study Completed NCT01696253
10 Urinary Biomarkers of the Progression of Alport Kidney Disease Completed NCT01705132
11 A Natural History Study to Observe Disease Progression, Standard of Care and Investigate Biomarkers in Alport Syndrome Patients Completed NCT02136862
12 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
13 Alport Syndrome Treatments and Outcomes Registry Recruiting NCT00481130
14 Biomarker for Alport Syndrome: An International, Multicenter, Observational, Longitudinal Protocol Recruiting NCT02718027
15 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:

40
Kidney, Eye, Retina, Skin, Bone, Smooth Muscle, Liver
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 1569)
# Title Authors PMID Year
1
Genotype-phenotype correlation in X-linked Alport syndrome. 54 6 25 61
20378821 2010
2
A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome. 6 25 54 61
16941480 2006
3
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. 25 54 6 61
12748344 2003
4
Detection of mutations in COL4A5 in patients with Alport syndrome. 54 6 25 61
10094548 1999
5
Evidence of digenic inheritance in Alport syndrome. 6 25 61
25575550 2015
6
Improving mutation screening in familial hematuric nephropathies through next generation sequencing. 25 6 61
24854265 2014
7
Natural history of genetically proven autosomal recessive Alport syndrome. 61 25 6
24633401 2014
8
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. 61 25 6
24033287 2014
9
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. 61 25 6
24052634 2013
10
Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome. 25 61 6
23732293 2013
11
Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. 25 6 61
12105244 2002
12
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis. 25 6
26346198 2016
13
Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure. 54 61 6
19965530 2010
14
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. 54 61 6
19129241 2009
15
MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome. 54 61 6
18616531 2008
16
Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples. 61 6 54
17660027 2007
17
Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria. 54 6 61
17396119 2007
18
Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. 61 6 54
15954103 2005
19
Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts. 61 6 54
15780079 2005
20
Immunohistochemical and molecular genetic evidence for type IV collagen alpha5 chain abnormality in the anterior lenticonus associated with Alport syndrome. 6 54 61
12796257 2003
21
Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome. 61 6 54
12436246 2002
22
Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome. 61 6 54
11462238 2001
23
Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP. 6 61 54
11223851 2001
24
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. 6 61 54
11134255 2001
25
Spectrum of COL4A5 mutations in Finnish Alport syndrome patients. 54 61 6
10862091 2000
26
Mutational analysis of COL4A5 gene in Korean Alport syndrome. 6 54 61
10684360 2000
27
High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing. 54 61 6
9848783 1998
28
Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q. 61 54 6
9150741 1997
29
The clinical spectrum of type IV collagen mutations. 54 61 6
9195222 1997
30
Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. 6 54 61
8940267 1996
31
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. 61 54 6
8651296 1996
32
The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network. 54 61 6
8648925 1996
33
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome. 54 61 6
8825605 1995
34
Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis. 61 6 54
7780062 1995
35
Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients. 54 61 6
7599631 1995
36
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. 54 61 6
7987301 1994
37
Variability of clinical phenotype in a large Alport family with Gly 1143 Ser change of collagen alpha 5(IV)-chain. 54 61 6
7969679 1994
38
A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5. 6 54 61
8081393 1994
39
DNA rearrangements in the alpha 5(IV) collagen gene (COL4A5) of individuals with Alport syndrome: further refinement using pulsed-field gel electrophoresis. 54 6 61
1330889 1992
40
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. 54 61 6
1376965 1992
41
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. 54 61 6
1598909 1992
42
Alport syndrome caused by a 5' deletion within the COL4A5 gene. 6 54 61
1577459 1992
43
Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome. 54 61 6
1672282 1991
44
Identification of mutations in the COL4A5 collagen gene in Alport syndrome. 6 54 61
2349482 1990
45
X-Linked Glomerulopathy Due to COL4A5 Founder Variant. 6 61
29198386 2018
46
Alport syndrome: impact of digenic inheritance in patients management. 61 6
27859054 2017
47
Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome. 61 6
28013382 2017
48
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. 6 61
28570636 2017
49
Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome. 61 6
28542346 2017
50
X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene. 6 61
26581810 2016
Sources

Variations for Alport Syndrome

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ClinVar genetic disease variations for Alport Syndrome:

6 (show top 50) (show all 2177)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL4A4 NM_000092.4(COL4A4):c.3601G>A (p.Gly1201Ser) SNV Pathogenic 17404 rs121912858 GRCh37: 2:227896969-227896969
GRCh38: 2:227032253-227032253
2 COL4A4 NM_000092.4(COL4A4):c.3713C>A (p.Ser1238Ter) SNV Pathogenic 17405 rs121912859 GRCh37: 2:227896765-227896765
GRCh38: 2:227032049-227032049
3 COL4A4 NM_000092.4(COL4A4):c.4923C>A (p.Cys1641Ter) SNV Pathogenic 17408 rs121912862 GRCh37: 2:227872191-227872191
GRCh38: 2:227007475-227007475
4 COL4A3 COL4A3, 5-BP DEL, NT4414 Deletion Pathogenic 17483 GRCh37:
GRCh38:
5 COL4A3 COL4A3, ALU INS, EX6 Insertion Pathogenic 17488 GRCh37:
GRCh38:
6 COL4A3 COL4A3, IVS21DS, G-A, -1 SNV Pathogenic 17491 GRCh37:
GRCh38:
7 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.4382C>T (p.Pro1461Leu) SNV Pathogenic 224787 rs760462252 GRCh37: 2:228172555-228172555
GRCh38: 2:227307839-227307839
8 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.4474A>T (p.Ser1492Cys) SNV Pathogenic 224788 rs1057519377 GRCh37: 2:228173626-228173626
GRCh38: 2:227308910-227308910
9 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.998G>C (p.Gly333Ala) SNV Pathogenic 224786 rs1057519376 GRCh37: 2:228122329-228122329
GRCh38: 2:227257613-227257613
10 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.1175G>A (p.Gly392Glu) SNV Pathogenic 427770 rs1114167371 GRCh37: 2:228128520-228128520
GRCh38: 2:227263804-227263804
11 COL4A4 NM_000092.4(COL4A4):c.2638_2639del (p.Ala880fs) Deletion Pathogenic 441259 rs1553641611 GRCh37: 2:227920738-227920739
GRCh38: 2:227056022-227056023
12 COL4A4 NM_000092.4(COL4A4):c.4694_4713del (p.Arg1565fs) Deletion Pathogenic 522488 rs1553612433 GRCh37: 2:227872830-227872849
GRCh38: 2:227008114-227008133
13 COL4A4 NM_000092.5(COL4A4):c.2969-1G>C SNV Pathogenic 522543 rs1553639043 GRCh37: 2:227915875-227915875
GRCh38: 2:227051159-227051159
14 COL4A4 NM_000092.4(COL4A4):c.1598G>A (p.Gly533Asp) SNV Pathogenic 556434 rs1553669704 GRCh37: 2:227953394-227953394
GRCh38: 2:227088678-227088678
15 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.3813del (p.Ser1272fs) Deletion Pathogenic 599079 rs1559914770 GRCh37: 2:228163457-228163457
GRCh38: 2:227298741-227298741
16 COL4A4 NM_000092.4(COL4A4):c.4820del (p.Ala1607fs) Deletion Pathogenic 599086 rs1559394354 GRCh37: 2:227872294-227872294
GRCh38: 2:227007578-227007578
17 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.3230G>A (p.Gly1077Asp) SNV Pathogenic 599139 rs1559909384 GRCh37: 2:228157926-228157926
GRCh38: 2:227293210-227293210
18 COL4A4 NM_000092.4(COL4A4):c.1221_1237del (p.Gly408fs) Deletion Pathogenic 599148 rs1559606445 GRCh37: 2:227958973-227958989
GRCh38: 2:227094257-227094273
19 COL4A4 NM_000092.4(COL4A4):c.4599T>G (p.Tyr1533Ter) SNV Pathogenic 557279 rs369922627 GRCh37: 2:227872944-227872944
GRCh38: 2:227008228-227008228
20 COL4A4 NM_000092.4(COL4A4):c.2878G>A (p.Gly960Arg) SNV Pathogenic 550472 rs769783985 GRCh37: 2:227917111-227917111
GRCh38: 2:227052395-227052395
21 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.4235G>T (p.Gly1412Val) SNV Pathogenic 870362 GRCh37: 2:228169782-228169782
GRCh38: 2:227305066-227305066
22 COL4A4 NM_000092.5(COL4A4):c.1389del (p.Asn464fs) Deletion Pathogenic 635494 rs1576428862 GRCh37: 2:227954654-227954654
GRCh38: 2:227089938-227089938
23 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.3266G>A (p.Gly1089Asp) SNV Pathogenic 635506 rs1574813382 GRCh37: 2:228157962-228157962
GRCh38: 2:227293246-227293246
24 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.3580del (p.Arg1194fs) Deletion Pathogenic 635508 rs1574823188 GRCh37: 2:228162404-228162404
GRCh38: 2:227297688-227297688
25 COL4A4 NM_000092.5(COL4A4):c.1221del (p.Pro409fs) Deletion Pathogenic 635526 rs1576457876 GRCh37: 2:227958989-227958989
GRCh38: 2:227094273-227094273
26 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.3575G>A (p.Gly1192Glu) SNV Pathogenic 635543 rs1574823172 GRCh37: 2:228162399-228162399
GRCh38: 2:227297683-227297683
27 COL4A4 NM_000092.5(COL4A4):c.2171del (p.Arg724fs) Deletion Pathogenic 635547 rs1576207007 GRCh37: 2:227924333-227924333
GRCh38: 2:227059617-227059617
28 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.142A>T (p.Lys48Ter) SNV Pathogenic 829844 rs1207493576 GRCh37: 2:228102738-228102738
GRCh38: 2:227238022-227238022
29 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.1505-2A>C SNV Pathogenic 829845 rs1247804051 GRCh37: 2:228134624-228134624
GRCh38: 2:227269908-227269908
30 COL4A4 NM_000092.5(COL4A4):c.192+1_192+2delinsTGATGTA Indel Pathogenic 829857 rs1576812577 GRCh37: 2:228004875-228004876
GRCh38: 2:227140159-227140160
31 COL4A4 NM_000092.5(COL4A4):c.4522G>A (p.Gly1508Ser) SNV Pathogenic 829920 rs1003748020 GRCh37: 2:227875029-227875029
GRCh38: 2:227010313-227010313
32 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.3013_3038del (p.Pro1005fs) Deletion Pathogenic 829933 rs1574803208 GRCh37: 2:228154745-228154770
GRCh38: 2:227290029-227290054
33 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.1559G>A (p.Gly520Asp) SNV Pathogenic 830011 rs1574745989 GRCh37: 2:228134680-228134680
GRCh38: 2:227269964-227269964
34 COL4A4 NM_000092.4(COL4A4):c.3834dup (p.Gly1279fs) Duplication Pathogenic 522537 rs1553625684 GRCh37: 2:227895297-227895298
GRCh38: 2:227030581-227030582
35 COL4A5 COL4A5, EX5-10DEL Deletion Pathogenic 10453 GRCh37:
GRCh38:
36 COL4A5 C108S SNV Pathogenic 10454 GRCh37:
GRCh38:
37 COL4A5 COL4A5, 10-15-KB INS, 40-KB DEL Indel Pathogenic 10455 GRCh37:
GRCh38:
38 COL4A5 COL4A5, 450-KB DEL Deletion Pathogenic 10456 GRCh37:
GRCh38:
39 COL4A5 COL4A5, 38-KB DEL Deletion Pathogenic 10457 GRCh37:
GRCh38:
40 COL4A5 COL4A5, 3-PRIME AND PARTIAL 5-PRIME DELETION Deletion Pathogenic 10460 GRCh37:
GRCh38:
41 COL4A4 NM_000092.4(COL4A4):c.4715C>T (p.Pro1572Leu) SNV Pathogenic 17409 rs121912863 GRCh37: 2:227872828-227872828
GRCh38: 2:227008112-227008112
42 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg) SNV Pathogenic 17492 rs267606745 GRCh37: 2:228159760-228159760
GRCh38: 2:227295044-227295044
43 overlap with 2 genes NM_033380.3(COL4A5):c.(?_1)_(81+1_82_1)del (p.?) Deletion Pathogenic 24209 GRCh37:
GRCh38: X:108222855-108534527
44 overlap with 2 genes NM_000495.5(COL4A5):c.(?_-202)_(81_?)del Deletion Pathogenic 24211 GRCh37:
GRCh38: X:108310829-108539745
45 overlap with 2 genes NM_000495.5(COL4A5):c.(?_-202)_(81_?)del Deletion Pathogenic 24212 GRCh37:
GRCh38: X:108438186-108440206
46 overlap with 2 genes NM_000495.5(COL4A5):c.(?_-202)_(81_?)del Deletion Pathogenic 24213 GRCh37:
GRCh38: X:108310829-108539745
47 COL4A5 NP_203699.1:p.? Deletion Pathogenic 24215 GRCh37:
GRCh38:
48 COL4A5 NP_203699.1:p.? Deletion Pathogenic 24216 GRCh37:
GRCh38:
49 COL4A5 NP_203699.1:p.? Deletion Pathogenic 24218 GRCh37:
GRCh38:
50 COL4A5 NP_203699.1:p.? Deletion Pathogenic 24220 GRCh37:
GRCh38:
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:

36
# 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 26)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.86 MYH9 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5
2
Integrin Pathway 63
Show member pathways
 13.48 MYH9 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5
3
Phospholipase-C Pathway 63
Show member pathways
 13.17 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
4
RNA Polymerase II Transcription Initiation And Promoter Clearance 65
Show member pathways
 13.14 MYH9 LAMB1 COL4A6 COL4A5 COL4A4 COL4A3
5
PI3K-Akt signaling pathway 36
Show member pathways
 13.1 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
6
Focal Adhesion 36 1
Show member pathways
 13 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
7
Pathways in cancer 36
12.95 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
8
Collagen chain trimerization 65
Show member pathways
 12.93 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
9
Degradation of the extracellular matrix 65
Show member pathways
 12.8 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
10
Relaxin signaling pathway 36
Show member pathways
 12.79 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
11
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 23
Show member pathways
 12.62 MYH9 LAMB1 COL4A6 COL4A5 COL4A4 COL4A3
12
AGE-RAGE signaling pathway in diabetic complications 36
12.03 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
13
Binding and Uptake of Ligands by Scavenger Receptors 65
Show member pathways
 12.02 COL4A2 COL4A1 COL1A2 COL1A1 ALB
14
Small cell lung cancer 36
11.94 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
15
Primary Focal Segmental Glomerulosclerosis FSGS 1
11.92 NPHS2 MYH9 LAMB2 LAMA5 COL4A5 COL4A4
16
ECM-receptor interaction 36
Show member pathways
 11.89 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
17
Cell adhesion_Plasmin signaling 23
11.69 LAMB1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
18
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 60
11.63 COL4A2 COL4A1 COL1A2 COL1A1
19
Cell adhesion_ECM remodeling 23
11.59 LAMB1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
20
ECM proteoglycans 65
11.56 LAMB2 LAMB1 LAMA5
21
miRNA targets in ECM and membrane receptors 1
11.55 LAMB2 COL4A2 COL4A1 COL1A2
22
NCAM1 interactions 65
11.54 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
23
Cell adhesion_Endothelial cell contacts by non-junctional mechanisms 23
11.51 LAMB1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
24
Inflammatory Response Pathway 1
11.46 LAMB2 LAMB1 LAMA5 COL1A2 COL1A1
25
Amoebiasis 36
11.37 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
26
G-protein signaling_Rap2B regulation pathway 23
11.12 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
Sources

GO Terms for Alport Syndrome

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.25 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
2 extracellular space GO:0005615 10.22 MIR21 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
3 extracellular exosome GO:0070062 10.2 NPHS2 MYH9 MIR21 LAMB2 LAMB1 LAMA5
4 extracellular matrix GO:0031012 10.02 LAMA5 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
5 collagen-containing extracellular matrix GO:0062023 10 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
6 collagen trimer GO:0005581 9.92 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
7 endoplasmic reticulum lumen GO:0005788 9.9 LAMB2 LAMB1 COL4A6 COL4A5 COL4A4 COL4A3
8 neuromuscular junction GO:0031594 9.78 MYH9 LAMB2 LAMA5 COL4A5
9 synaptic cleft GO:0043083 9.55 LAMB2 LAMA5
10 laminin complex GO:0043256 9.54 LAMB2 LAMB1
11 laminin-11 complex GO:0043260 9.52 LAMB2 LAMA5
12 laminin-10 complex GO:0043259 9.51 LAMB1 LAMA5
13 collagen type I trimer GO:0005584 9.49 COL1A2 COL1A1
14 collagen type IV trimer GO:0005587 9.43 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
15 basement membrane GO:0005604 9.28 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.88 MYH9 LAMB2 LAMB1 LAMA5 COL4A6 COL4A3
2 blood vessel development GO:0001568 9.63 MIR21 COL1A2 COL1A1
3 substrate adhesion-dependent cell spreading GO:0034446 9.61 LAMB2 LAMB1 LAMA5
4 collagen metabolic process GO:0032963 9.54 MIR21 COL1A2
5 tissue development GO:0009888 9.54 LAMB2 LAMB1 LAMA5
6 skin morphogenesis GO:0043589 9.52 COL1A2 COL1A1
7 basement membrane assembly GO:0070831 9.51 LAMB2 LAMB1
8 neuromuscular junction development GO:0007528 9.5 LAMB2 COL4A5 COL4A1
9 glomerular basement membrane development GO:0032836 9.49 COL4A4 COL4A3
10 cell morphogenesis involved in differentiation GO:0000904 9.48 MYH9 LAMB2
11 cellular response to amino acid stimulus GO:0071230 9.46 COL4A6 COL4A1 COL1A2 COL1A1
12 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.43 COL4A6 COL4A5 COL4A3 COL4A2 COL4A1 COL1A1
13 extracellular matrix organization GO:0030198 9.36 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
14 metanephric glomerular visceral epithelial cell development GO:0072249 9.26 NPHS2 LAMB2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.56 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
2 integrin binding GO:0005178 9.55 MYH9 LAMB2 LAMB1 LAMA5 COL4A3
3 platelet-derived growth factor binding GO:0048407 9.43 COL4A1 COL1A2 COL1A1
4 extracellular matrix structural constituent GO:0005201 9.36 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
Sources

Sources for Alport Syndrome

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