MCID: ALP004
MIFTS: 68

Alport Syndrome

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Alport Syndrome

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
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:

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


Summaries for Alport Syndrome

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 HIV Protease Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include Kidney, and related phenotypes are sensorineural hearing impairment and retinopathy

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

Related Diseases for Alport Syndrome

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 251)
# 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 34.6 COL4A5 COL4A4 COL4A3 COL4A1
5 alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 34.2 KCNE5 AMMECR1 ACSL4
6 x-linked alport syndrome-diffuse leiomyomatosis 34.1 COL4A6 COL4A5
7 autosomal recessive alport syndrome 34.0 MYH9 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
8 hematuria, benign familial 33.1 COL4A5 COL4A4 COL4A3
9 x-linked alport syndrome 33.0 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
10 leiomyomatosis 31.6 COL4A6 COL4A5 COL4A4 COL4A3
11 end stage renal failure 31.4 TGFB1 MYH9 COL4A5 ALB
12 glomerular disease 31.3 COL4A5 ALB
13 sensorineural hearing loss 31.3 MYH9 KCNE5 COL4A6 COL4A5 AMMECR1
14 goodpasture syndrome 30.7 COL4A5 COL4A4 COL4A3 ALB
15 glomerulonephritis 30.5 TGFB1 MYH9 COL4A5 COL4A4 COL4A3 CFH
16 anti-basement membrane glomerulonephritis 30.5 COL4A5 COL4A4 COL4A3 ALB
17 focal segmental glomerulosclerosis 30.5 TGFB1 MYH9 COL4A5 COL4A4 COL4A3 ALB
18 cataract 30.5 VEGFA MYH9 COL4A4 COL4A3 COL4A1 ALB
19 chronic kidney disease 30.4 VEGFA TGFB1 MYH9 COL4A5 COL4A4 ALB
20 thrombotic microangiopathy 30.3 VEGFA CFH
21 pierson syndrome 30.2 LAMB1 LAMA5 COL4A5 COL4A4 COL4A3
22 hypertensive retinopathy 30.1 VEGFA ALB
23 severe pre-eclampsia 30.0 VEGFA CFH ALB
24 kidney disease 29.8 VEGFA TGFB1 MYH9 COL4A5 COL4A4 COL4A3
25 hydronephrosis 29.7 VEGFA TGFB1 ALB
26 myopia 29.2 VEGFA TGFB1 LAMA5 LAMA2 LAMA1 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 amme complex 12.2
30 dyschondrosteosis and nephritis 12.0
31 nephropathy with pretibial epidermolysis bullosa and deafness 11.7
32 renal failure, progressive, with hypertension 11.6
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 digenic disease 10.6 COL4A5 COL4A3
39 macular holes 10.5
40 familial porencephaly 10.5 COL4A2 COL4A1
41 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 10.5 COL4A2 COL4A1
42 meningovascular neurosyphilis 10.5 MYH9 ALB
43 ehlers-danlos/osteogenesis imperfecta syndrome 10.4 COL1A2 COL1A1
44 arthrochalasia ehlers-danlos syndrome 10.4 COL1A2 COL1A1
45 ehlers-danlos syndrome, arthrochalasia type, 1 10.4 COL1A1 ALB
46 col1a1/2 osteogenesis imperfecta 10.4 COL1A2 COL1A1
47 high bone mass osteogenesis imperfecta 10.4 COL1A2 COL1A1
48 larsen-like syndrome 10.4 COL1A2 COL1A1
49 nephrotic syndrome 10.4
50 col4a1-related familial vascular leukoencephalopathy 10.4 COL4A2 COL4A1

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



Diseases related to Alport Syndrome

Symptoms & Phenotypes for Alport Syndrome

Human phenotypes related to Alport Syndrome:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
2 retinopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000488
3 hematuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000790
4 glomerulopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100820
5 morphological abnormality of the semicircular canal 58 31 hallmark (90%) Very frequent (99-80%) HP:0011380
6 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
7 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
8 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
9 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
10 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
11 dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002094
12 pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000980
13 dry skin 58 31 frequent (33%) Frequent (79-30%) HP:0000958
14 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
15 nephrotic syndrome 58 31 frequent (33%) Frequent (79-30%) HP:0000100
16 headache 58 31 frequent (33%) Frequent (79-30%) HP:0002315
17 lentiglobus 58 31 frequent (33%) Frequent (79-30%) HP:0011527
18 periorbital edema 58 31 frequent (33%) Frequent (79-30%) HP:0100539
19 tinnitus 58 31 frequent (33%) Frequent (79-30%) HP:0000360
20 leukopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001882
21 pedal edema 31 frequent (33%) HP:0010741
22 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
23 photophobia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000613
24 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
25 subcutaneous nodule 58 31 occasional (7.5%) Occasional (29-5%) HP:0001482
26 corneal dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001131
27 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
28 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
29 abdominal situs inversus 58 31 occasional (7.5%) Occasional (29-5%) HP:0003363
30 neoplasm of the colon 58 31 occasional (7.5%) Occasional (29-5%) HP:0100273
31 diffuse leiomyomatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006756
32 macular dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007754
33 uterine neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0010784
34 edema of the lower limbs 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Alport Syndrome:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.41 ACSL4 ALB CFH COL1A1 COL1A2 COL4A1
2 growth/size/body region MP:0005378 10.37 ACSL4 CFH COL1A1 COL1A2 COL4A1 COL4A2
3 homeostasis/metabolism MP:0005376 10.35 ACSL4 ALB CFH COL1A1 COL1A2 COL4A1
4 mortality/aging MP:0010768 10.33 ACSL4 ALB CFH COL1A1 COL1A2 COL4A1
5 behavior/neurological MP:0005386 10.32 CFH COL1A1 COL1A2 COL4A1 COL4A3 LAMA1
6 cellular MP:0005384 10.3 ALB COL1A1 COL1A2 COL4A1 COL4A3 LAMA1
7 immune system MP:0005387 10.27 ALB CFH COL1A1 COL4A1 COL4A2 COL4A3
8 hematopoietic system MP:0005397 10.24 ACSL4 CFH COL1A1 COL4A1 COL4A2 COL4A5
9 embryo MP:0005380 10.2 COL1A1 COL4A1 COL4A2 LAMA1 LAMA5 LAMB1
10 endocrine/exocrine gland MP:0005379 10.19 ACSL4 ALB AMMECR1 COL1A1 COL4A2 LAMA2
11 hearing/vestibular/ear MP:0005377 10.11 ACSL4 COL1A1 COL4A2 COL4A3 COL4A4 LAMA2
12 muscle MP:0005369 10.07 ALB CFH COL1A1 COL1A2 COL4A1 COL4A2
13 nervous system MP:0003631 10.06 CFH COL1A1 COL4A1 COL4A2 LAMA1 LAMA2
14 limbs/digits/tail MP:0005371 9.98 ACSL4 COL1A1 COL1A2 COL4A2 LAMA5 LAMB1
15 normal MP:0002873 9.91 ACSL4 ALB CFH COL1A1 COL1A2 COL4A6
16 renal/urinary system MP:0005367 9.9 ALB CFH COL1A1 COL4A1 COL4A3 COL4A4
17 respiratory system MP:0005388 9.5 COL1A1 COL4A1 COL4A2 LAMA2 LAMA5 TGFB1
18 vision/eye MP:0005391 9.4 CFH COL1A1 COL4A1 COL4A2 COL4A3 COL4A4

Drugs & Therapeutics for Alport Syndrome

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

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

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Early Prospective Therapy Trial to Delay Renal Failure in Children With Alport Syndrome Unknown status 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 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 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

Genetic Tests for Alport Syndrome

Genetic tests related to Alport Syndrome:

# Genetic test Affiliating Genes
1 Alport Syndrome 29

Anatomical Context for Alport Syndrome

MalaCards organs/tissues related to Alport Syndrome:

40
Kidney, Eye, Testes, Bone, Skin, Retina, 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

Publications for Alport Syndrome

Articles related to Alport Syndrome:

(show top 50) (show all 1449)
# 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 61 6
12796257 2003
2
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. 54 61 6
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. 54 61 6
9195222 1997
5
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome. 54 61 6
8825605 1995
6
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. 54 61 6
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. 54 61 6
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. 54 61 6
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. 54 61 6
1598909 1992
10
Alport syndrome caused by a 5' deletion within the COL4A5 gene. 54 61 6
1577459 1992
11
Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome. 54 61 6
1672282 1991
12
Identification of mutations in the COL4A5 collagen gene in Alport syndrome. 54 61 6
2349482 1990
13
A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population. 61 6
23927549 2014
14
Clinical utility gene card for: Alport syndrome. 61 6
22166944 2012
15
Genotype-phenotype correlation in X-linked Alport syndrome. 54 61 24
20378821 2010
16
A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome. 54 61 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 61 24
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. 54 61 24
12748344 2003
19
Alport syndrome associated with diffuse leiomyomatosis: COL4A5-COL4A6 deletion associated with a mild form of Alport nephropathy. 54 61 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. 54 61 24
10094548 1999
23
Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. 61 6
9792860 1998
24
Alport syndrome in Réunion Island: phenotypic heterogeneity of the recessive-autosomal form. 61 6
9647515 1998
25
Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). 61 6
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. 54 61 24
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. 61 6
7987396 1994
30
Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors. 54 61 24
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. 61 6
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. 61 6
6650503 1983
35
Germline mosaicism is a pitfall in the diagnosis of "sporadic" X-linked Alport syndrome. 61 24
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. 61 24
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. 61 24
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. 61 24
25575550 2015
42
Improving mutation screening in familial hematuric nephropathies through next generation sequencing. 61 24
24854265 2014
43
Natural history of genetically proven autosomal recessive Alport syndrome. 61 24
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. 61 24
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

Variations for Alport Syndrome

ClinVar genetic disease variations for Alport Syndrome:

6 (show top 50) (show all 242) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 COL4A3 NM_000091.4(COL4A3):c.112C>G (p.Gln38Glu)SNV Conflicting interpretations of pathogenicity 334753 rs201607115 2:228102708-228102708 2:227237992-227237992
4 COL4A4 NM_000092.4(COL4A4):c.4349T>C (p.Ile1450Thr)SNV Conflicting interpretations of pathogenicity 334705 rs72969704 2:227875202-227875202 2:227010486-227010486
5 COL4A4 NM_000092.4(COL4A4):c.4082-8C>TSNV Conflicting interpretations of pathogenicity 334707 rs139571413 2:227890534-227890534 2:227025818-227025818
6 COL4A3 NM_000091.4(COL4A3):c.2489-8G>ASNV Conflicting interpretations of pathogenicity 334767 rs201846272 2:228147073-228147073 2:227282357-227282357
7 COL4A3 NM_000091.4(COL4A3):c.3566-9T>CSNV Conflicting interpretations of pathogenicity 334775 rs147886850 2:228162381-228162381 2:227297665-227297665
8 COL4A4 NM_000092.4(COL4A4):c.4857T>C (p.Pro1619=)SNV Conflicting interpretations of pathogenicity 334700 rs184776061 2:227872257-227872257 2:227007541-227007541
9 COL4A4 NM_000092.4(COL4A4):c.2586T>C (p.Pro862=)SNV Conflicting interpretations of pathogenicity 334716 rs761238651 2:227920791-227920791 2:227056075-227056075
10 COL4A4 NM_000092.4(COL4A4):c.2430C>G (p.Gly810=)SNV Conflicting interpretations of pathogenicity 334718 rs769363556 2:227922270-227922270 2:227057554-227057554
11 COL4A4 NM_000092.4(COL4A4):c.2367A>T (p.Gly789=)SNV Conflicting interpretations of pathogenicity 334721 rs56247709 2:227924137-227924137 2:227059421-227059421
12 COL4A4 NM_000092.4(COL4A4):c.2079C>T (p.Pro693=)SNV Conflicting interpretations of pathogenicity 334726 rs200010601 2:227924937-227924937 2:227060221-227060221
13 COL4A4 NM_000092.4(COL4A4):c.1435G>C (p.Gly479Arg)SNV Conflicting interpretations of pathogenicity 334731 rs202210475 2:227954608-227954608 2:227089892-227089892
14 COL4A4 NM_000092.4(COL4A4):c.541G>T (p.Ala181Ser)SNV Conflicting interpretations of pathogenicity 334737 rs200707549 2:227979361-227979361 2:227114645-227114645
15 COL4A3 NM_000091.4(COL4A3):c.516C>T (p.Asp172=)SNV Conflicting interpretations of pathogenicity 334757 rs759455097 2:228113206-228113206 2:227248490-227248490
16 COL4A3 NM_000091.4(COL4A3):c.3882+10G>ASNV Conflicting interpretations of pathogenicity 334776 rs78980950 2:228163538-228163538 2:227298822-227298822
17 COL4A3 NM_000091.4(COL4A3):c.3939G>A (p.Gly1313=)SNV Conflicting interpretations of pathogenicity 334777 rs141552752 2:228167810-228167810 2:227303094-227303094
18 COL4A4 NM_000092.4(COL4A4):c.5016A>G (p.Glu1672=)SNV Conflicting interpretations of pathogenicity 255044 rs34761049 2:227872098-227872098 2:227007382-227007382
19 COL4A4 NM_000092.4(COL4A4):c.4217-15T>CSNV Conflicting interpretations of pathogenicity 255039 rs200926310 2:227877028-227877028 2:227012312-227012312
20 COL4A4 NM_000092.4(COL4A4):c.4090+14T>CSNV Conflicting interpretations of pathogenicity 255037 rs147376687 2:227890504-227890504 2:227025788-227025788
21 COL4A4 NM_000092.4(COL4A4):c.2717-5A>TSNV Conflicting interpretations of pathogenicity 255024 rs1800519 2:227919458-227919458 2:227054742-227054742
22 COL4A4 NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln)SNV Conflicting interpretations of pathogenicity 255023 rs150979437 2:227920747-227920747 2:227056031-227056031
23 COL4A3 NM_000091.4(COL4A3):c.4893C>T (p.Phe1631=)SNV Conflicting interpretations of pathogenicity 255002 rs183218622 2:228175629-228175629 2:227310913-227310913
24 COL4A3 NM_000091.4(COL4A3):c.3258G>A (p.Gly1086=)SNV Conflicting interpretations of pathogenicity 254991 rs147085074 2:228157954-228157954 2:227293238-227293238
25 COL4A3 NM_000091.4(COL4A3):c.3270A>C (p.Pro1090=)SNV Conflicting interpretations of pathogenicity 254992 rs201989155 2:228157966-228157966 2:227293250-227293250
26 COL4A4 NM_000092.4(COL4A4):c.4195A>T (p.Met1399Leu)SNV Conflicting interpretations of pathogenicity 334706 rs149117087 2:227886785-227886785 2:227022069-227022069
27 COL4A4 NM_000092.4(COL4A4):c.2985C>T (p.Pro995=)SNV Conflicting interpretations of pathogenicity 334711 rs79261248 2:227915858-227915858 2:227051142-227051142
28 COL4A4 NM_000092.4(COL4A4):c.736-10T>GSNV Conflicting interpretations of pathogenicity 334736 rs201175819 2:227968778-227968778 2:227104062-227104062
29 COL4A4 NM_000092.4(COL4A4):c.193-9C>GSNV Conflicting interpretations of pathogenicity 334739 rs190570269 2:227985873-227985873 2:227121157-227121157
30 COL4A3 NM_000091.4(COL4A3):c.4482G>A (p.Leu1494=)SNV Conflicting interpretations of pathogenicity 334784 rs181952966 2:228173634-228173634 2:227308918-227308918
31 COL4A3 NM_000091.4(COL4A3):c.4494C>G (p.Thr1498=)SNV Conflicting interpretations of pathogenicity 334785 rs200454769 2:228173646-228173646 2:227308930-227308930
32 COL4A3 NM_000091.4(COL4A3):c.3566-10T>CSNV Conflicting interpretations of pathogenicity 334774 rs114719458 2:228162380-228162380 2:227297664-227297664
33 COL4A3 NM_000091.4(COL4A3):c.3945A>G (p.Pro1315=)SNV Conflicting interpretations of pathogenicity 334778 rs189574905 2:228167816-228167816 2:227303100-227303100
34 COL4A4 NM_000092.4(COL4A4):c.2877C>T (p.Pro959=)SNV Conflicting interpretations of pathogenicity 334712 rs79470996 2:227917112-227917112 2:227052396-227052396
35 COL4A4 NM_000092.4(COL4A4):c.1893A>G (p.Gly631=)SNV Conflicting interpretations of pathogenicity 334728 rs370886041 2:227942704-227942704 2:227077988-227077988
36 COL4A3 NM_000091.4(COL4A3):c.4825C>A (p.Arg1609=)SNV Conflicting interpretations of pathogenicity 334789 rs756231749 2:228175561-228175561 2:227310845-227310845
37 COL4A3 NM_000091.4(COL4A3):c.688-8G>TSNV Conflicting interpretations of pathogenicity 334758 rs748843785 2:228118269-228118269 2:227253553-227253553
38 COL4A3 NM_000091.4(COL4A3):c.1927G>A (p.Gly643Ser)SNV Conflicting interpretations of pathogenicity 334764 rs778034451 2:228137833-228137833 2:227273117-227273117
39 COL4A3 NM_000091.4(COL4A3):c.1928-4T>CSNV Conflicting interpretations of pathogenicity 334765 rs376327706 2:228141097-228141097 2:227276381-227276381
40 COL4A3 NM_000091.4(COL4A3):c.3228G>A (p.Pro1076=)SNV Conflicting interpretations of pathogenicity 334771 rs200125890 2:228157924-228157924 2:227293208-227293208
41 COL4A3 NM_000091.4(COL4A3):c.-13G>CSNV Conflicting interpretations of pathogenicity 334752 rs770803750 2:228029430-228029430 2:227164714-227164714
42 COL4A3 NM_000091.4(COL4A3):c.*406G>ASNV Uncertain significance 334793 rs759265728 2:228176992-228176992 2:227312276-227312276
43 COL4A3 NM_000091.4(COL4A3):c.*1032G>ASNV Uncertain significance 334802 rs886055744 2:228177618-228177618 2:227312902-227312902
44 COL4A3 NM_000091.4(COL4A3):c.*1069_*1070deldeletion Uncertain significance 334806 rs11297279 2:228177643-228177644 2:227312927-227312928
45 COL4A3 NM_000091.4(COL4A3):c.*2182C>TSNV Uncertain significance 334820 rs114535536 2:228178768-228178768 2:227314052-227314052
46 COL4A3 NM_000091.4(COL4A3):c.*2272T>CSNV Uncertain significance 334823 rs886055750 2:228178858-228178858 2:227314142-227314142
47 COL4A3 NM_000091.4(COL4A3):c.3419-8T>GSNV Uncertain significance 334773 rs754483986 2:228159672-228159672 2:227294956-227294956
48 COL4A3 NM_000091.4(COL4A3):c.1367_1369del (p.Tyr456del)deletion Uncertain significance 334760 rs762420854 2:228131184-228131186 2:227266468-227266470
49 COL4A3 NM_000091.4(COL4A3):c.1423C>G (p.Leu475Val)SNV Uncertain significance 334761 rs886055738 2:228131723-228131723 2:227267007-227267007
50 COL4A3 NM_000091.4(COL4A3):c.1483C>T (p.His495Tyr)SNV Uncertain significance 334762 rs200510532 2:228131783-228131783 2:227267067-227267067

Expression for Alport Syndrome

Search GEO for disease gene expression data for Alport Syndrome.

Pathways for Alport Syndrome

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 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.14 VEGFA TGFB1 MYH9 LAMB1 LAMA5 LAMA2
2
Show member pathways
13.91 VEGFA TGFB1 MYH9 LAMB1 LAMA5 LAMA2
3
Show member pathways
13.56 VEGFA TGFB1 MYH9 LAMB1 LAMA5 LAMA2
4
Show member pathways
13.54 VEGFA TGFB1 MYH9 LAMB1 LAMA1 COL4A5
5
Show member pathways
13.24 TGFB1 LAMB1 LAMA5 LAMA2 LAMA1 COL4A6
6
Show member pathways
13.18 MYH9 LAMB1 LAMA1 COL4A6 COL4A5 COL4A4
7
Show member pathways
13.16 VEGFA LAMB1 LAMA5 LAMA2 LAMA1 COL4A6
8 13.03 VEGFA TGFB1 LAMB1 LAMA5 LAMA2 LAMA1
9
Show member pathways
12.93 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
10
Show member pathways
12.85 VEGFA TGFB1 COL4A6 COL4A5 COL4A4 COL4A3
11
Show member pathways
12.74 VEGFA LAMB1 LAMA5 LAMA2 LAMA1 COL4A6
12
Show member pathways
12.66 MYH9 LAMB1 LAMA1 COL4A6 COL4A5 COL4A4
13
Show member pathways
12.5 TGFB1 LAMB1 LAMA5 LAMA2 LAMA1
14
Show member pathways
12.42 TGFB1 LAMB1 LAMA5 LAMA2 LAMA1 COL4A6
15
Show member pathways
12.31 TGFB1 LAMB1 LAMA5 LAMA2 LAMA1
16
Show member pathways
12.29 LAMB1 LAMA5 LAMA2 LAMA1 COL4A6 COL4A5
17 12.27 VEGFA TGFB1 COL1A2 COL1A1
18 12.16 LAMB1 LAMA5 LAMA2 LAMA1 COL4A6 COL4A5
19 12.1 VEGFA TGFB1 COL4A6 COL4A5 COL4A4 COL4A3
20
Show member pathways
12.03 COL4A2 COL4A1 COL1A2 COL1A1 ALB
21 12 VEGFA TGFB1 LAMA5 COL1A2
22 11.93 TGFB1 MYH9 LAMA5 COL4A5 COL4A4 COL4A3
23 11.92 LAMB1 LAMA1 COL4A6 COL4A5 COL4A4 COL4A3
24 11.87 VEGFA TGFB1 LAMB1 LAMA1 COL4A6 COL4A5
25 11.76 LAMB1 LAMA1 COL4A6 COL4A5 COL4A4 COL4A3
26 11.75 TGFB1 LAMB1 LAMA5 LAMA2 LAMA1
27 11.63 COL4A2 COL4A1 COL1A2 COL1A1
28 11.56 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
29 11.54 VEGFA TGFB1 COL4A2
30 11.46 COL4A2 COL4A1 COL1A2
31 11.44 TGFB1 LAMB1 LAMA5 LAMA2 LAMA1 COL4A6
32 11.43 LAMB1 LAMA5 COL1A2 COL1A1
33 11.23 VEGFA TGFB1 LAMA1
34 10.97 TGFB1 LAMB1 LAMA5 LAMA2 LAMA1 COL4A6
35 10.9 TGFB1 LAMA5

GO Terms for Alport Syndrome

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 10.34 VEGFA TGFB1 LAMB1 LAMA5 LAMA2 LAMA1
2 extracellular space GO:0005615 10.28 VEGFA TGFB1 LAMB1 LAMA5 LAMA1 COL4A6
3 endoplasmic reticulum lumen GO:0005788 10.07 LAMB1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
4 collagen trimer GO:0005581 9.92 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
5 basement membrane GO:0005604 9.85 LAMB1 LAMA5 LAMA2 LAMA1 COL4A6 COL4A5
6 neuromuscular junction GO:0031594 9.76 MYH9 LAMA5 LAMA2 COL4A5
7 collagen type IV trimer GO:0005587 9.73 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
8 extracellular matrix GO:0031012 9.73 VEGFA TGFB1 LAMA5 LAMA1 COL4A6 COL4A5
9 secretory granule GO:0030141 9.72 VEGFA TGFB1 COL1A1
10 platelet alpha granule lumen GO:0031093 9.71 VEGFA TGFB1 ALB
11 synaptic cleft GO:0043083 9.56 LAMA5 LAMA2
12 laminin complex GO:0043256 9.52 LAMB1 LAMA1
13 laminin-10 complex GO:0043259 9.51 LAMB1 LAMA5
14 laminin-1 complex GO:0005606 9.49 LAMB1 LAMA1
15 collagen type I trimer GO:0005584 9.48 COL1A2 COL1A1
16 collagen-containing extracellular matrix GO:0062023 9.44 TGFB1 LAMB1 LAMA5 LAMA2 LAMA1 COL4A6

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.9 VEGFA TGFB1 LAMA5 COL1A2
2 positive regulation of cell migration GO:0030335 9.88 VEGFA TGFB1 LAMB1 COL1A1
3 angiogenesis GO:0001525 9.87 VEGFA MYH9 LAMA5 COL4A2
4 cell adhesion GO:0007155 9.87 MYH9 LAMB1 LAMA5 LAMA2 LAMA1 COL4A6
5 leukocyte migration GO:0050900 9.81 TGFB1 MYH9 COL1A2 COL1A1
6 animal organ morphogenesis GO:0009887 9.73 LAMB1 LAMA5 LAMA2 LAMA1
7 regulation of cell migration GO:0030334 9.71 TGFB1 LAMA5 LAMA2 LAMA1
8 positive regulation of epithelial cell proliferation GO:0050679 9.7 VEGFA TGFB1 LAMB1
9 cellular response to transforming growth factor beta stimulus GO:0071560 9.67 TGFB1 COL4A2 COL1A1
10 regulation of cell adhesion GO:0030155 9.63 LAMA5 LAMA2 LAMA1
11 monocyte differentiation GO:0030224 9.61 VEGFA MYH9
12 branching involved in salivary gland morphogenesis GO:0060445 9.59 LAMA5 LAMA1
13 positive regulation of vascular permeability GO:0043117 9.58 VEGFA TGFB1
14 extracellular matrix assembly GO:0085029 9.56 TGFB1 COL1A2
15 cellular response to amino acid stimulus GO:0071230 9.56 COL4A6 COL4A1 COL1A2 COL1A1
16 skin morphogenesis GO:0043589 9.55 COL1A2 COL1A1
17 glomerular basement membrane development GO:0032836 9.54 COL4A4 COL4A3
18 regulation of embryonic development GO:0045995 9.54 LAMA5 LAMA2 LAMA1
19 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.5 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
20 retinal blood vessel morphogenesis GO:0061304 9.48 LAMA1 COL4A1
21 tissue development GO:0009888 9.46 LAMB1 LAMA5 LAMA2 LAMA1
22 extracellular matrix organization GO:0030198 9.4 LAMB1 LAMA5 LAMA2 LAMA1 COL4A6 COL4A5

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.56 MYH9 LAMB1 LAMA5 COL4A3
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.56 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
3 extracellular matrix structural constituent GO:0005201 9.4 LAMB1 LAMA5 LAMA2 LAMA1 COL4A6 COL4A5
4 platelet-derived growth factor binding GO:0048407 9.33 COL4A1 COL1A2 COL1A1

Sources for Alport Syndrome

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
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