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MCID: ALP004
MIFTS: 68

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 74 24 52 25 58 36 29 6 15
Hereditary Nephritis 12 24 25 17
Hemorrhagic Hereditary Nephritis 52 25
Congenital Hereditary Hematuria 52 25
Hemorrhagic Familial Nephritis 52 25
Alport Syndrome, X-Linked 52 54
Hereditary Familial Congenital Hemorrhagic Nephritis 25
Hematuria-Nephropathy-Deafness Syndrome 25
Hereditary Interstitial Pyelonephritis 25
Thin Basement Membrane Nephropathy 24
Alport Hearing Loss-Nephropathy 58
Thin Basement Membrane Disease 24
Hematuric Hereditary Nephritis 25
Hereditary Hematuria Syndrome 25
Alport Deafness-Nephropathy 58
Nephritis, Hereditary 43
Familial Nephritis 24
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:

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


Sources

Summaries for Alport Syndrome

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NIH Rare Diseases : 52 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 alport syndrome 1, x-linked. 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 Angiotensin-Converting Enzyme Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include Kidney, and related phenotypes are sensorineural hearing impairment and hematuria

Disease Ontology : 12 A syndrome 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 : 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 : 74 Alport syndrome is a genetic disorder affecting around 1 in 5,000-10,000 children, characterized by... more...

GeneReviews: NBK1207
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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 265)
# Related Disease Score Top Affiliating Genes
1 alport syndrome 3, autosomal dominant 34.9 COL4A4 COL4A3
2 alport syndrome 1, x-linked 34.8 COL4A5 COL4A4
3 alport syndrome 2, autosomal recessive 34.8 COL4A4 COL4A3
4 autosomal dominant alport syndrome 34.3 MYH9 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
5 x-linked alport syndrome-diffuse leiomyomatosis 34.2 COL4A6 COL4A5
6 amme complex 34.2 KCNE5 AMMECR1 ACSL4
7 autosomal recessive alport syndrome 34.1 NPHS2 MYH9 COL4A6 COL4A5 COL4A4 COL4A3
8 x-linked alport syndrome 33.5 MYH9 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
9 hematuria, benign familial 32.4 NPHS2 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
10 leiomyomatosis 31.6 COL4A6 COL4A5 COL4A4 COL4A3
11 sensorineural hearing loss 31.4 MYH9 KCNE5 COL4A6 COL4A5 AMMECR1
12 glomerular disease 31.4 NPHS2 ALB
13 glomerulonephritis 31.1 NPHS2 MYH9 COL4A5 COL4A4 COL4A3 ALB
14 end stage renal disease 30.9 VEGFA NPHS2 MYH9 COL4A5 COL4A4 COL4A3
15 kidney disease 30.8 NPHS2 MYH9 COL4A5 COL4A4 COL4A3 COL4A1
16 leiomyoma 30.7 LAMB1 COL4A6 COL4A5
17 familial nephrotic syndrome 30.7 NPHS2 COL4A5 COL4A4
18 goodpasture syndrome 30.6 COL4A6 COL4A5 COL4A4 COL4A3 ALB
19 anti-basement membrane glomerulonephritis 30.5 COL4A5 COL4A4 COL4A3 ALB
20 cataract 30.5 VEGFA MYH9 COL4A4 COL4A3 COL4A1 ALB
21 focal segmental glomerulosclerosis 30.4 NPHS2 MYH9 LAMB2 COL4A5 COL4A4 COL4A3
22 chronic kidney disease 30.3 VEGFA NPHS2 MYH9 COL4A5 COL4A4 COL4A3
23 hypertensive retinopathy 30.3 VEGFA ALB
24 idiopathic nephrotic syndrome 30.2 NPHS2 ALB
25 myopia 30.0 VEGFA LAMA5 LAMA1 COL4A4 COL1A1
26 pierson syndrome 29.8 NPHS2 LAMB2 LAMB1 LAMA5 COL4A5 COL4A4
27 leiomyomatosis, diffuse, with alport syndrome 12.5
28 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 12.2
29 dyschondrosteosis and nephritis 12.0
30 nephropathy with pretibial epidermolysis bullosa and deafness 11.7
31 renal failure, progressive, with hypertension 11.6
32 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 11.2
33 nephrocalcinosis 11.2
34 branchiootic syndrome 1 10.8
35 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
36 intravenous leiomyomatosis 10.7
37 malignant cylindroma 10.6 COL4A5 COL4A1
38 nail disorder, nonsyndromic congenital, 8 10.5 COL4A6 COL4A4
39 xia-gibbs syndrome 10.5 COL4A5 COL4A4
40 macular holes 10.5
41 familial porencephaly 10.5 COL4A2 COL4A1
42 acquired porencephaly 10.5 COL4A2 COL4A1
43 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 10.5 COL4A2 COL4A1
44 brain small vessel disease 1 with or without ocular anomalies 10.5 COL4A2 COL4A1
45 corneal dystrophy, posterior polymorphous, 3 10.5 COL4A4 COL4A3
46 meningovascular neurosyphilis 10.4 MYH9 ALB
47 ehlers-danlos syndrome, arthrochalasia type, 1 10.4 COL1A1 ALB
48 nephrotic syndrome, type 5, with or without ocular abnormalities 10.4 LAMB2 COL4A6
49 nail-patella syndrome 10.4 NPHS2 COL4A4 COL4A3
50 nephrotic syndrome 10.4

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



Diseases related to Alport Syndrome
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Symptoms & Phenotypes for Alport Syndrome

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Human phenotypes related to Alport Syndrome:

58 31 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 31 hallmark (90%) Occasional (29-5%) HP:0000407
2 hematuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000790
3 retinopathy 31 hallmark (90%) HP:0000488
4 glomerulopathy 31 hallmark (90%) HP:0100820
5 morphological abnormality of the semicircular canal 31 hallmark (90%) HP:0011380
6 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
7 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
8 dyspnea 58 31 frequent (33%) Very rare (<4-1%) HP:0002094
9 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
10 nephrotic syndrome 58 31 frequent (33%) Occasional (29-5%) HP:0000100
11 cataract 31 frequent (33%) HP:0000518
12 fatigue 31 frequent (33%) HP:0012378
13 weight loss 31 frequent (33%) HP:0001824
14 dry skin 31 frequent (33%) HP:0000958
15 pallor 31 frequent (33%) HP:0000980
16 lentiglobus 31 frequent (33%) HP:0011527
17 periorbital edema 31 frequent (33%) HP:0100539
18 headache 31 frequent (33%) HP:0002315
19 pedal edema 31 frequent (33%) HP:0010741
20 tinnitus 31 frequent (33%) HP:0000360
21 leukopenia 31 frequent (33%) HP:0001882
22 vomiting 58 31 occasional (7.5%) Very rare (<4-1%) HP:0002013
23 dysphagia 58 31 occasional (7.5%) Very rare (<4-1%) HP:0002015
24 diffuse leiomyomatosis 58 31 occasional (7.5%) Very rare (<4-1%) HP:0006756
25 photophobia 31 occasional (7.5%) HP:0000613
26 subcutaneous nodule 31 occasional (7.5%) HP:0001482
27 myopia 31 occasional (7.5%) HP:0000545
28 thrombocytopenia 31 occasional (7.5%) HP:0001873
29 corneal dystrophy 31 occasional (7.5%) HP:0001131
30 abdominal situs inversus 31 occasional (7.5%) HP:0003363
31 neoplasm of the colon 31 occasional (7.5%) HP:0100273
32 uterine neoplasm 31 occasional (7.5%) HP:0010784
33 macular dystrophy 31 occasional (7.5%) HP:0007754
34 cough 58 Very rare (<4-1%)
35 abnormality of the eye 58 Occasional (29-5%)
36 abnormal aortic morphology 58 Very rare (<4-1%)
37 stridor 58 Very rare (<4-1%)
38 macular degeneration 58 Very rare (<4-1%)
39 aortic aneurysm 58 Very rare (<4-1%)
40 recurrent bronchitis 58 Very rare (<4-1%)
41 stage 5 chronic kidney disease 58 Occasional (29-5%)
42 microscopic hematuria 58 Occasional (29-5%)
43 recurrent corneal erosions 58 Occasional (29-5%)
44 clitoral hypertrophy 58 Very rare (<4-1%)
45 renal tubular atrophy 58 Occasional (29-5%)
46 tubulointerstitial fibrosis 58 Occasional (29-5%)
47 focal segmental glomerulosclerosis 58 Occasional (29-5%)
48 nephritis 58 Occasional (29-5%)
49 abnormal corneal endothelium morphology 58 Occasional (29-5%)
50 epigastric pain 58 Very rare (<4-1%)

MGI Mouse Phenotypes related to Alport Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.29 ACSL4 ALB COL1A1 COL1A2 COL4A1 COL4A2
2 growth/size/body region MP:0005378 10.27 ACSL4 COL1A1 COL1A2 COL4A1 COL4A2 COL4A3
3 homeostasis/metabolism MP:0005376 10.25 ACSL4 ALB COL1A1 COL1A2 COL4A1 COL4A2
4 mortality/aging MP:0010768 10.16 ACSL4 ALB COL1A1 COL1A2 COL4A1 COL4A2
5 immune system MP:0005387 10.15 ALB COL1A1 COL1A2 COL4A1 COL4A2 COL4A3
6 hearing/vestibular/ear MP:0005377 9.98 ACSL4 COL1A1 COL4A2 COL4A3 COL4A4 LAMA5
7 limbs/digits/tail MP:0005371 9.87 ACSL4 COL1A1 COL1A2 COL4A2 LAMA5 LAMB1
8 normal MP:0002873 9.76 ACSL4 ALB COL1A1 COL1A2 COL4A6 LAMA1
9 renal/urinary system MP:0005367 9.7 ALB COL1A1 COL4A1 COL4A3 COL4A4 COL4A5
10 vision/eye MP:0005391 9.4 COL1A1 COL1A2 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 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ramipril Approved Phase 3 87333-19-5 5362129
2 Angiotensin-Converting Enzyme Inhibitors Phase 3
3 Antihypertensive Agents Phase 3
4
protease inhibitors Phase 3
5 HIV Protease Inhibitors Phase 3
6
Angiotensin II Approved, Investigational Phase 2 4474-91-3, 11128-99-7, 68521-88-0 172198
7
Valsartan Approved, Investigational Phase 2 137862-53-4 60846
8
Benazepril Approved, Investigational Phase 2 86541-75-5 5362124
9 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
10 Angiotensin II Type 1 Receptor Blockers Phase 2
11 Angiotensinogen Phase 2
12 Angiotensin Receptor Antagonists Phase 2
13 Giapreza Phase 2
14 Liver Extracts Phase 2
15 Pharmaceutical Solutions Phase 2
16
Enalapril Approved, Vet_approved 75847-73-3 40466924 5362032
17
Enalaprilat Approved 76420-72-9 6917719
18
Spironolactone Approved 52-01-7, 1952-01-7 5833
19 Hormone Antagonists
20 Hormones
21 Mineralocorticoids
22 Mineralocorticoid Receptor Antagonists
23 diuretics
24 Diuretics, Potassium Sparing

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Early Prospective Therapy Trial to Delay Renal Failure in Children With Alport Syndrome Completed NCT01485978 Phase 3 Ramipril;placebo to ramipril;Ramipril
2 An Extended Access Program to Assess Long Term Safety of Bardoxolone Methyl in Patients With Chronic Kidney Disease Recruiting NCT03749447 Phase 3 Bardoxolone methyl
3 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
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 Recruiting NCT02855268 Phase 2 Lademirsen (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 A Natural History Study to Observe Disease Progression, Standard of Care and Investigate Biomarkers in Alport Syndrome Patients Completed NCT02136862
9 A Prospective Study of Microalbuminuria in Untreated Boys With Alport Syndrome Completed NCT00622544
10 Collagen Type 4-related Nephropathies: From Alport to Thin Membrane Nephropathy. A Series of Cases Treated With Angiotensin Converting Enzyme Inhibitor Completed NCT01465126
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 Alport Syndrome Treatments and Outcomes Registry Recruiting NCT00481130
14 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
15 Biomarker for Alport Syndrome: An International, Multicenter, Observational, Longitudinal Protocol Recruiting NCT02718027
16 Urinary Nephrin and Alpha One Microglobulin as Early Renal Injury Biomarkers in Patients With Inflammatory Bowel Disease Not yet recruiting NCT04282577
17 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, 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 1476)
# 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. 54 6 61
12796257 2003
2
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. 6 54 61
11134255 2001
3
Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q. 54 61 6
9150741 1997
4
The clinical spectrum of type IV collagen mutations. 61 6 54
9195222 1997
5
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome. 61 54 6
8825605 1995
6
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. 54 6 61
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. 6 54 61
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. 6 54 61
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. 6 54 61
1598909 1992
10
Alport syndrome caused by a 5' deletion within the COL4A5 gene. 6 54 61
1577459 1992
11
Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome. 61 54 6
1672282 1991
12
Identification of mutations in the COL4A5 collagen gene in Alport syndrome. 6 54 61
2349482 1990
13
A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population. 6 61
23927549 2014
14
Clinical utility gene card for: Alport syndrome. 61 6
22166944 2012
15
Genotype-phenotype correlation in X-linked Alport syndrome. 24 54 61
20378821 2010
16
A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome. 61 54 24
16941480 2006
17
A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia. 54 24 61
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. 24 54 61
12748344 2003
19
Alport syndrome associated with diffuse leiomyomatosis: COL4A5-COL4A6 deletion associated with a mild form of Alport nephropathy. 61 54 24
11773466 2002
20
Alport Syndrome 61 6
20301386 2001
21
Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. 61 6
11044206 2000
22
Detection of mutations in COL4A5 in patients with Alport syndrome. 61 54 24
10094548 1999
23
Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. 6 61
9792860 1998
24
Alport syndrome in Réunion Island: phenotypic heterogeneity of the recessive-autosomal form. 6 61
9647515 1998
25
Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). 6 61
9269635 1997
26
A mutation causing Alport syndrome with tardive hearing loss is common in the western United States. 61 6
8651292 1996
27
Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome. 24 61 54
8599366 1995
28
Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome. 61 6
7633417 1995
29
Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. 6 61
7987396 1994
30
Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors. 24 54 61
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. 6 61
1352287 1992
32
De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome. 61 6
1363780 1992
33
Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome. 61 6
1783380 1991
34
X-linked inheritance of Alport syndrome: family P revisited. 6 61
6650503 1983
35
Germline mosaicism is a pitfall in the diagnosis of "sporadic" X-linked Alport syndrome. 24 61
30062677 2019
36
Should We Diagnose Autosomal Dominant Alport Syndrome When There Is a Pathogenic Heterozygous COL4A3 or COL4A4 Variant? 61 24
30450445 2018
37
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases. 24 61
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. 24 61
29551517 2018
39
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome. 61 24
29098738 2018
40
Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis. 61 24
28275241 2017
41
Evidence of digenic inheritance in Alport syndrome. 24 61
25575550 2015
42
Improving mutation screening in familial hematuric nephropathies through next generation sequencing. 24 61
24854265 2014
43
Natural history of genetically proven autosomal recessive Alport syndrome. 24 61
24633401 2014
44
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. 61 24
24033287 2014
45
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. 61 24
24052634 2013
46
Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome. 24 61
23732293 2013
47
Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative. 61 24
22461141 2013
48
Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy. 61 24
22166847 2012
49
The value of clinical criteria in identifying patients with X-linked Alport syndrome. 61 24
20884774 2011
50
Aortic abnormalities in males with Alport syndrome. 61 24
20494893 2010
Sources

Variations for Alport Syndrome

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ClinVar genetic disease variations for Alport Syndrome:

6 (show top 50) (show all 442) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL4A5 NM_033380.3(COL4A5):c.1147G>C (p.Gly383Arg)SNV Pathogenic 635111 rs1569492161 X:107829959-107829959 X:108586729-108586729
2 COL4A3 NM_000091.4(COL4A3):c.1381G>C (p.Gly461Arg)SNV Likely pathogenic 431383 rs1135401954 2:228131198-228131198 2:227266482-227266482
3 COL4A4 NM_000092.4(COL4A4):c.4760C>G (p.Pro1587Arg)SNV Conflicting interpretations of pathogenicity 447189 rs190148408 2:227872783-227872783 2:227008067-227008067
4 COL4A3 NM_000091.5(COL4A3):c.573T>C (p.Pro191=)SNV Conflicting interpretations of pathogenicity 517579 rs375503109 2:228115882-228115882 2:227251166-227251166
5 COL4A4 NM_000092.4(COL4A4):c.1353C>T (p.Gly451=)SNV Conflicting interpretations of pathogenicity 512187 rs199511948 2:227958857-227958857 2:227094141-227094141
6 COL4A4 NM_000092.4(COL4A4):c.1205-9A>GSNV Conflicting interpretations of pathogenicity 508606 rs370706928 2:227959014-227959014 2:227094298-227094298
7 COL4A3 NM_000091.4(COL4A3):c.3829G>A (p.Gly1277Ser)SNV Conflicting interpretations of pathogenicity 555905 rs190598500 2:228163475-228163475 2:227298759-227298759
8 COL4A4 NM_000092.4(COL4A4):c.50A>G (p.Lys17Arg)SNV Conflicting interpretations of pathogenicity 421367 rs114969026 2:228012150-228012150 2:227147434-227147434
9 COL4A3 NM_000091.4(COL4A3):c.3825C>T (p.His1275=)SNV Conflicting interpretations of pathogenicity 594998 rs143380907 2:228163471-228163471 2:227298755-227298755
10 COL4A3 NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His)SNV Conflicting interpretations of pathogenicity 667044 2:228159737-228159737 2:227295021-227295021
11 COL4A3 NM_000091.4(COL4A3):c.-26G>TSNV Conflicting interpretations of pathogenicity 668426 2:228029417-228029417 2:227164701-227164701
12 COL4A4 NM_000092.5(COL4A4):c.4779G>A (p.Arg1593=)SNV Conflicting interpretations of pathogenicity 713195 2:227872764-227872764 2:227008048-227008048
13 COL4A3 NM_000091.5(COL4A3):c.4059T>C (p.Ile1353=)SNV Conflicting interpretations of pathogenicity 719950 2:228168766-228168766 2:227304050-227304050
14 COL4A4 NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu)SNV Conflicting interpretations of pathogenicity 722479 2:227892710-227892710 2:227027994-227027994
15 COL4A4 NM_000092.5(COL4A4):c.3654A>G (p.Pro1218=)SNV Conflicting interpretations of pathogenicity 727718 2:227896916-227896916 2:227032200-227032200
16 COL4A4 NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=)SNV Conflicting interpretations of pathogenicity 733775 2:227915735-227915735 2:227051019-227051019
17 COL4A4 NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn)SNV Conflicting interpretations of pathogenicity 726281 2:227979395-227979395 2:227114679-227114679
18 COL4A3 NM_000091.5(COL4A3):c.1863A>G (p.Gln621=)SNV Conflicting interpretations of pathogenicity 742400 2:228137769-228137769 2:227273053-227273053
19 COL4A4 NM_000092.5(COL4A4):c.4947C>T (p.Ser1649=)SNV Conflicting interpretations of pathogenicity 766428 2:227872167-227872167 2:227007451-227007451
20 COL4A3 NM_000091.5(COL4A3):c.3751+7G>ASNV Conflicting interpretations of pathogenicity 753296 2:228162582-228162582 2:227297866-227297866
21 COL4A4 NM_000092.5(COL4A4):c.2007C>T (p.Asn669=)SNV Conflicting interpretations of pathogenicity 793214 2:227927295-227927295 2:227062579-227062579
22 COL4A4 NM_000092.5(COL4A4):c.1719T>C (p.Pro573=)SNV Conflicting interpretations of pathogenicity 793238 2:227945243-227945243 2:227080527-227080527
23 COL4A3 NM_000091.5(COL4A3):c.468+9T>CSNV Conflicting interpretations of pathogenicity 799467 2:228112309-228112309 2:227247593-227247593
24 COL4A3 NM_000091.5(COL4A3):c.87+7G>TSNV Conflicting interpretations of pathogenicity 792255 2:228029536-228029536 2:227164820-227164820
25 COL4A3 NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys)SNV Conflicting interpretations of pathogenicity 809179 2:228145214-228145214 2:227280498-227280498
26 COL4A4 NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=)SNV Conflicting interpretations of pathogenicity 778018 2:227886828-227886828 2:227022112-227022112
27 COL4A4 NM_000092.4(COL4A4):c.4217-15T>CSNV Conflicting interpretations of pathogenicity 255039 rs200926310 2:227877028-227877028 2:227012312-227012312
28 COL4A4 NM_000092.4(COL4A4):c.4090+14T>CSNV Conflicting interpretations of pathogenicity 255037 rs147376687 2:227890504-227890504 2:227025788-227025788
29 COL4A4 NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu)SNV Conflicting interpretations of pathogenicity 255027 rs13027659 2:227915847-227915847 2:227051131-227051131
30 COL4A4 NM_000092.4(COL4A4):c.2717-5A>TSNV Conflicting interpretations of pathogenicity 255024 rs1800519 2:227919458-227919458 2:227054742-227054742
31 COL4A4 NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln)SNV Conflicting interpretations of pathogenicity 255023 rs150979437 2:227920747-227920747 2:227056031-227056031
32 COL4A4 NM_000092.4(COL4A4):c.195T>C (p.Gly65=)SNV Conflicting interpretations of pathogenicity 255017 rs201278620 2:227985862-227985862 2:227121146-227121146
33 COL4A3 NM_000091.4(COL4A3):c.4893C>T (p.Phe1631=)SNV Conflicting interpretations of pathogenicity 255002 rs183218622 2:228175629-228175629 2:227310913-227310913
34 COL4A3 NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys)SNV Conflicting interpretations of pathogenicity 287915 rs201697532 2:228176554-228176554 2:227311838-227311838
35 COL4A3 NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=)SNV Conflicting interpretations of pathogenicity 254991 rs147085074 2:228157954-228157954 2:227293238-227293238
36 COL4A3 NM_000091.4(COL4A3):c.3270A>C (p.Pro1090=)SNV Conflicting interpretations of pathogenicity 254992 rs201989155 2:228157966-228157966 2:227293250-227293250
37 COL4A3 NM_000091.4(COL4A3):c.3325C>T (p.Pro1109Ser)SNV Conflicting interpretations of pathogenicity 254993 rs55816283 2:228158021-228158021 2:227293305-227293305
38 COL4A4 NM_000092.4(COL4A4):c.2985C>T (p.Pro995=)SNV Conflicting interpretations of pathogenicity 334711 rs79261248 2:227915858-227915858 2:227051142-227051142
39 COL4A4 NM_000092.4(COL4A4):c.736-10T>GSNV Conflicting interpretations of pathogenicity 334736 rs201175819 2:227968778-227968778 2:227104062-227104062
40 COL4A4 NM_000092.4(COL4A4):c.193-9C>GSNV Conflicting interpretations of pathogenicity 334739 rs190570269 2:227985873-227985873 2:227121157-227121157
41 COL4A3 NM_000091.4(COL4A3):c.3945A>G (p.Pro1315=)SNV Conflicting interpretations of pathogenicity 334778 rs189574905 2:228167816-228167816 2:227303100-227303100
42 COL4A3 NM_000091.4(COL4A3):c.4482G>A (p.Leu1494=)SNV Conflicting interpretations of pathogenicity 334784 rs181952966 2:228173634-228173634 2:227308918-227308918
43 COL4A3 NM_000091.4(COL4A3):c.4494C>G (p.Thr1498=)SNV Conflicting interpretations of pathogenicity 334785 rs200454769 2:228173646-228173646 2:227308930-227308930
44 COL4A4 NM_000092.4(COL4A4):c.1893A>G (p.Gly631=)SNV Conflicting interpretations of pathogenicity 334728 rs370886041 2:227942704-227942704 2:227077988-227077988
45 COL4A3 NM_000091.4(COL4A3):c.688-8G>TSNV Conflicting interpretations of pathogenicity 334758 rs748843785 2:228118269-228118269 2:227253553-227253553
46 COL4A3 NM_000091.4(COL4A3):c.1927G>A (p.Gly643Ser)SNV Conflicting interpretations of pathogenicity 334764 rs778034451 2:228137833-228137833 2:227273117-227273117
47 COL4A3 NM_000091.4(COL4A3):c.1928-4T>CSNV Conflicting interpretations of pathogenicity 334765 rs376327706 2:228141097-228141097 2:227276381-227276381
48 COL4A3 NM_000091.4(COL4A3):c.3228G>A (p.Pro1076=)SNV Conflicting interpretations of pathogenicity 334771 rs200125890 2:228157924-228157924 2:227293208-227293208
49 COL4A3 NM_000091.4(COL4A3):c.-13G>CSNV Conflicting interpretations of pathogenicity 334752 rs770803750 2:228029430-228029430 2:227164714-227164714
50 COL4A3 NM_000091.4(COL4A3):c.4825C>A (p.Arg1609=)SNV Conflicting interpretations of pathogenicity 334789 rs756231749 2:228175561-228175561 2:227310845-227310845
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 31)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.91 VEGFA MYH9 LAMB2 LAMB1 LAMA5 LAMA1
2
Integrin Pathway 63
Show member pathways
 13.53 VEGFA MYH9 LAMB2 LAMB1 LAMA5 LAMA1
3
Developmental Biology 65
Show member pathways
 13.5 VEGFA MYH9 LAMB1 LAMA1 COL4A5 COL4A4
4
Phospholipase-C Pathway 63
Show member pathways
 13.21 LAMB2 LAMB1 LAMA5 LAMA1 COL4A6 COL4A5
5
RNA Polymerase II Transcription Initiation And Promoter Clearance 65
Show member pathways
 13.17 MYH9 LAMB1 LAMA1 COL4A6 COL4A5 COL4A4
6
PI3K-Akt signaling pathway 36
Show member pathways
 13.13 VEGFA LAMB2 LAMB1 LAMA5 LAMA1 COL4A6
7
Pathways in cancer 36
12.99 VEGFA LAMB2 LAMB1 LAMA5 LAMA1 COL4A6
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
 12.93 LAMB2 LAMB1 LAMA5 LAMA1 COL4A6 COL4A5
10
Relaxin signaling pathway 36
Show member pathways
 12.82 VEGFA COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
11
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 22
Show member pathways
 12.55 MYH9 LAMB1 LAMA1 COL4A6 COL4A5 COL4A4
12
MET promotes cell motility 65
Show member pathways
 12.41 LAMB2 LAMB1 LAMA5 LAMA1
13
Proteoglycans in cancer 36
12.25 VEGFA MIR21 COL1A2 COL1A1
14
Toxoplasmosis 36
Show member pathways
 12.22 LAMB2 LAMB1 LAMA5 LAMA1
15
Focal Adhesion 36 1
Show member pathways
 12.2 VEGFA LAMB2 LAMB1 LAMA5 LAMA1 COL4A6
16
ECM-receptor interaction 36
Show member pathways
 12.13 LAMB2 LAMB1 LAMA5 LAMA1 COL4A6 COL4A5
17
AGE-RAGE signaling pathway in diabetic complications 36
12.09 VEGFA COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
18
Small cell lung cancer 36
12.07 LAMB2 LAMB1 LAMA5 LAMA1 COL4A6 COL4A5
19
Binding and Uptake of Ligands by Scavenger Receptors 65
Show member pathways
 12.03 COL4A2 COL4A1 COL1A2 COL1A1 ALB
20
Primary Focal Segmental Glomerulosclerosis FSGS 1
11.97 NPHS2 MYH9 LAMB2 LAMA5 COL4A5 COL4A4
21
Interleukin-4 and 13 signaling 65
11.88 VEGFA LAMA5 COL1A2
22
Cell adhesion_ECM remodeling 22
11.81 LAMB1 LAMA1 COL4A6 COL4A5 COL4A4 COL4A3
23
Cell adhesion_Plasmin signaling 22
11.8 VEGFA LAMB1 LAMA1 COL4A6 COL4A5 COL4A4
24
Amoebiasis 36
11.74 LAMB2 LAMB1 LAMA5 LAMA1 COL4A6 COL4A5
25
ECM proteoglycans 65
11.68 LAMB2 LAMB1 LAMA5 LAMA1
26
Cell adhesion_Endothelial cell contacts by non-junctional mechanisms 22
11.67 LAMB1 LAMA1 COL4A6 COL4A5 COL4A4 COL4A3
27
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 60
11.63 COL4A2 COL4A1 COL1A2 COL1A1
28
NCAM1 interactions 65
11.56 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
29
miRNA targets in ECM and membrane receptors 1
11.55 LAMB2 COL4A2 COL4A1 COL1A2
30
Inflammatory Response Pathway 1
11.5 LAMB2 LAMB1 LAMA5 COL1A2 COL1A1
31
G-protein signaling_Rap2B regulation pathway 22
11.19 LAMB2 LAMB1 LAMA5 LAMA1 COL4A6 COL4A5
Sources

GO Terms for Alport Syndrome

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.28 VEGFA LAMB2 LAMB1 LAMA5 LAMA1 COL4A6
2 extracellular space GO:0005615 10.25 VEGFA MIR21 LAMB1 LAMA5 LAMA1 COL4A6
3 extracellular exosome GO:0070062 10.22 NPHS2 MYH9 MIR21 LAMB2 LAMB1 LAMA5
4 endoplasmic reticulum lumen GO:0005788 10.06 LAMB2 LAMB1 COL4A6 COL4A5 COL4A4 COL4A3
5 collagen trimer GO:0005581 9.97 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
6 basement membrane GO:0005604 9.85 LAMB2 LAMB1 LAMA5 LAMA1 COL4A6 COL4A5
7 neuromuscular junction GO:0031594 9.78 MYH9 LAMB2 LAMA5 COL4A5
8 collagen type IV trimer GO:0005587 9.73 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
9 extracellular matrix GO:0031012 9.7 VEGFA LAMA5 LAMA1 COL4A6 COL4A5 COL4A4
10 laminin complex GO:0043256 9.63 LAMB2 LAMB1 LAMA1
11 laminin-11 complex GO:0043260 9.56 LAMB2 LAMA5
12 laminin-10 complex GO:0043259 9.55 LAMB1 LAMA5
13 laminin-1 complex GO:0005606 9.54 LAMB1 LAMA1
14 laminin-3 complex GO:0005608 9.51 LAMB2 LAMA1
15 collagen type I trimer GO:0005584 9.49 COL1A2 COL1A1
16 collagen-containing extracellular matrix GO:0062023 9.4 LAMB2 LAMB1 LAMA5 LAMA1 COL4A6 COL4A5

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.87 VEGFA MYH9 COL4A2 COL4A1
2 cell adhesion GO:0007155 9.87 MYH9 LAMB2 LAMB1 LAMA5 LAMA1 COL4A6
3 positive regulation of cell migration GO:0030335 9.85 VEGFA MIR21 LAMB1 COL1A1
4 regulation of cell migration GO:0030334 9.76 MIR21 LAMA5 LAMA1
5 animal organ morphogenesis GO:0009887 9.73 LAMB2 LAMB1 LAMA5 LAMA1
6 substrate adhesion-dependent cell spreading GO:0034446 9.65 LAMB2 LAMB1 LAMA5
7 monocyte differentiation GO:0030224 9.59 VEGFA MYH9
8 collagen metabolic process GO:0032963 9.58 MIR21 COL1A2
9 neuromuscular junction development GO:0007528 9.58 LAMB2 COL4A5 COL4A1
10 branching involved in salivary gland morphogenesis GO:0060445 9.56 LAMA5 LAMA1
11 cellular response to amino acid stimulus GO:0071230 9.56 COL4A6 COL4A1 COL1A2 COL1A1
12 basement membrane assembly GO:0070831 9.54 LAMB2 LAMB1
13 skin morphogenesis GO:0043589 9.52 COL1A2 COL1A1
14 glomerular basement membrane development GO:0032836 9.51 COL4A4 COL4A3
15 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.5 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
16 cell morphogenesis involved in differentiation GO:0000904 9.49 MYH9 LAMB2
17 retinal blood vessel morphogenesis GO:0061304 9.46 LAMA1 COL4A1
18 tissue development GO:0009888 9.46 LAMB2 LAMB1 LAMA5 LAMA1
19 extracellular matrix organization GO:0030198 9.4 LAMB2 LAMB1 LAMA5 LAMA1 COL4A6 COL4A5
20 metanephric glomerular visceral epithelial cell development GO:0072249 9.37 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 9.4 LAMB2 LAMB1 LAMA5 LAMA1 COL4A6 COL4A5
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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