MCID: ALP004
MIFTS: 69

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 25 20 43 58 36 29 6 15
Hereditary Nephritis 12 25 43 17
Hemorrhagic Hereditary Nephritis 20 43
Congenital Hereditary Hematuria 20 43
Hemorrhagic Familial Nephritis 20 43
Alport Syndrome, X-Linked 20 54
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:

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


Summaries for Alport Syndrome

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 Angiotensin-Converting Enzyme Inhibitors 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 : 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 249)
# 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 autosomal recessive alport syndrome 33.0 NPHS2 MYH9 MFF-DT COL4A6 COL4A5 COL4A4
4 alport syndrome 1, x-linked 33.0 COL4A5 COL4A4 ATG4A
5 autosomal dominant alport syndrome 33.0 NPHS2 MYH9 MFF-DT COL4A6 COL4A5 COL4A4
6 x-linked alport syndrome 32.6 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 end stage renal disease 31.6 NPHS2 MYH9 COL4A5 COL4A4 COL4A3 ALB
11 leiomyomatosis 31.6 COL4A6 COL4A5 COL4A4 COL4A3
12 sensorineural hearing loss 31.6 MYH9 KCNE5 COL4A6 COL4A5 AMMECR1
13 glomerulonephritis 31.6 NPHS2 MYH9 COL4A5 COL4A4 COL4A3 ALB
14 kidney disease 31.3 NPHS2 MYH9 MIR21 COL4A5 COL4A4 COL4A3
15 chronic kidney disease 31.2 NPHS2 MYH9 MIR21 COL4A5 COL4A4 COL4A3
16 focal segmental glomerulosclerosis 31.1 NPHS2 MYH9 LAMB2 COL4A5 COL4A4 COL4A3
17 goodpasture syndrome 30.9 COL4A5 COL4A4 COL4A3 ALB
18 irregular astigmatism 30.9 COL4A4 COL4A3
19 leiomyoma 30.8 LAMB1 COL4A6 COL4A5
20 anti-basement membrane glomerulonephritis 30.7 COL4A5 COL4A4 COL4A3 ALB
21 cataract 30.6 MYH9 COL4A4 COL4A3 COL4A1 ALB
22 familial nephrotic syndrome 30.6 NPHS2 COL4A5 COL4A4 COL4A3 ALB
23 pierson syndrome 30.4 NPHS2 LAMB2 LAMB1 LAMA5 COL4A5 COL4A4
24 keratoconus 30.3 COL4A4 COL4A3 COL4A2 COL4A1
25 idiopathic nephrotic syndrome 30.3 NPHS2 ALB
26 alport syndrome 2, autosomal recessive 11.6
27 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.6
28 leiomyomatosis, diffuse, with alport syndrome 11.4
29 nephropathy with pretibial epidermolysis bullosa and deafness 11.2
30 dyschondrosteosis and nephritis 11.1
31 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 11.0
32 nephrocalcinosis 11.0
33 branchiootic syndrome 1 10.8
34 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
35 intravenous leiomyomatosis 10.6
36 malignant cylindroma 10.5 COL4A5 COL4A1
37 acquired porencephaly 10.5 COL4A2 COL4A1
38 macular holes 10.5
39 ehlers-danlos/osteogenesis imperfecta syndrome 10.5 COL1A2 COL1A1
40 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 10.5 COL4A2 COL4A1
41 brain small vessel disease 1 with or without ocular anomalies 10.5 COL4A2 COL4A1
42 col1a1/2 osteogenesis imperfecta 10.5 COL1A2 COL1A1
43 ehlers-danlos syndrome, arthrochalasia type, 1 10.5 COL1A1 ALB
44 rapidly progressive glomerulonephritis 10.5 COL4A4 COL4A3 ALB
45 nephrotic syndrome, type 5, with or without ocular abnormalities 10.5 LAMB2 COL4A6
46 high bone mass osteogenesis imperfecta 10.5 COL1A2 COL1A1
47 autoimmune disease of urogenital tract 10.5 COL4A5 COL4A4 COL4A3 ALB
48 acute proliferative glomerulonephritis 10.5 NPHS2 COL4A3 ALB
49 nail-patella syndrome 10.5 NPHS2 COL4A4 COL4A3
50 larsen-like syndrome 10.4 COL1A2 COL1A1

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 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 tubulointerstitial fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005576
13 focal segmental glomerulosclerosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000097
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 cardiovascular system MP:0005385 10.14 ACSL4 ALB COL1A1 COL1A2 COL4A1 COL4A2
2 homeostasis/metabolism MP:0005376 10.13 ACSL4 ALB COL1A1 COL1A2 COL4A1 COL4A2
3 immune system MP:0005387 10 ALB COL1A1 COL1A2 COL4A1 COL4A2 COL4A3
4 mortality/aging MP:0010768 10 ACSL4 ALB COL1A1 COL1A2 COL4A1 COL4A2
5 hearing/vestibular/ear MP:0005377 9.85 COL1A1 COL4A2 COL4A3 COL4A4 LAMA5 MYH9
6 renal/urinary system MP:0005367 9.65 ALB COL1A1 COL4A1 COL4A3 COL4A4 COL4A5
7 vision/eye MP:0005391 9.28 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5

Drugs & Therapeutics for Alport Syndrome

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 Angiotensin-Converting Enzyme Inhibitors Phase 3
3 Antihypertensive Agents Phase 3
4 HIV Protease Inhibitors Phase 3
5
protease inhibitors Phase 3
6
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 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 Liver Extracts Phase 2
12 Angiotensin Receptor Antagonists Phase 2
13 Giapreza Phase 2
14 Angiotensinogen 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 Hormones
21 Hormone Antagonists
22 diuretics
23 Mineralocorticoid Receptor Antagonists
24 Diuretics, Potassium Sparing
25 Mineralocorticoids

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 Not yet 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 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 Urinary Biomarkers of the Progression of Alport Kidney Disease Completed NCT01705132
11 Multi-center Controlled Clinical Trials in Alport Syndrome-A Feasibility Study Completed NCT01696253
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

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, Retina, Skin, Smooth Muscle, Liver, Endothelial
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 1535)
# 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. 6 61 54
12796257 2003
2
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. 6 61 54
11134255 2001
3
High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing. 54 61 6
9848783 1998
4
Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q. 61 54 6
9150741 1997
5
The clinical spectrum of type IV collagen mutations. 61 6 54
9195222 1997
6
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome. 6 61 54
8825605 1995
7
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. 6 61 54
7987301 1994
8
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
9
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
10
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. 61 6 54
1598909 1992
11
Alport syndrome caused by a 5' deletion within the COL4A5 gene. 6 54 61
1577459 1992
12
Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome. 61 54 6
1672282 1991
13
Identification of mutations in the COL4A5 collagen gene in Alport syndrome. 6 61 54
2349482 1990
14
A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population. 6 61
23927549 2014
15
Genotype-phenotype correlation in X-linked Alport syndrome. 25 54 61
20378821 2010
16
A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome. 61 54 25
16941480 2006
17
A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia. 25 61 54
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. 61 54 25
12748344 2003
19
Alport syndrome associated with diffuse leiomyomatosis: COL4A5-COL4A6 deletion associated with a mild form of Alport nephropathy. 25 54 61
11773466 2002
20
Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. 61 6
11044206 2000
21
Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients. 61 6
10563487 1999
22
Detection of mutations in COL4A5 in patients with Alport syndrome. 25 61 54
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. 6 61
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. 6 61
8651292 1996
27
Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome. 54 61 25
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. 61 54 25
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. 6 61
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 25
30062677 2019
36
Should We Diagnose Autosomal Dominant Alport Syndrome When There Is a Pathogenic Heterozygous COL4A3 or COL4A4 Variant? 61 25
30450445 2018
37
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases. 61 25
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 25
29551517 2018
39
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome. 25 61
29098738 2018
40
Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis. 61 25
28275241 2017
41
Evidence of digenic inheritance in Alport syndrome. 25 61
25575550 2015
42
Improving mutation screening in familial hematuric nephropathies through next generation sequencing. 61 25
24854265 2014
43
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. 61 25
24033287 2014
44
Natural history of genetically proven autosomal recessive Alport syndrome. 61 25
24633401 2014
45
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. 25 61
24052634 2013
46
Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome. 61 25
23732293 2013
47
Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative. 61 25
22461141 2013
48
Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy. 25 61
22166847 2012
49
The value of clinical criteria in identifying patients with X-linked Alport syndrome. 61 25
20884774 2011
50
Aortic abnormalities in males with Alport syndrome. 25 61
20494893 2010

Variations for Alport Syndrome

ClinVar genetic disease variations for Alport Syndrome:

6 (show top 50) (show all 2106)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL4A4 NM_000092.4(COL4A4):c.3601G>A (p.Gly1201Ser) SNV Pathogenic 17404 rs121912858 2:227896969-227896969 2:227032253-227032253
2 COL4A4 NM_000092.4(COL4A4):c.3713C>A (p.Ser1238Ter) SNV Pathogenic 17405 rs121912859 2:227896765-227896765 2:227032049-227032049
3 COL4A4 NM_000092.4(COL4A4):c.4923C>A (p.Cys1641Ter) SNV Pathogenic 17408 rs121912862 2:227872191-227872191 2:227007475-227007475
4 COL4A3 COL4A3, 5-BP DEL, NT4414 Deletion Pathogenic 17483
5 COL4A3 COL4A3, ALU INS, EX6 Insertion Pathogenic 17488
6 COL4A3 COL4A3, IVS21DS, G-A, -1 SNV Pathogenic 17491
7 MFF-DT NM_000091.4(COL4A3):c.4382C>T (p.Pro1461Leu) SNV Pathogenic 224787 rs760462252 2:228172555-228172555 2:227307839-227307839
8 MFF-DT NM_000091.4(COL4A3):c.4474A>T (p.Ser1492Cys) SNV Pathogenic 224788 rs1057519377 2:228173626-228173626 2:227308910-227308910
9 MFF-DT NM_000091.4(COL4A3):c.998G>C (p.Gly333Ala) SNV Pathogenic 224786 rs1057519376 2:228122329-228122329 2:227257613-227257613
10 MFF-DT NM_000091.4(COL4A3):c.1175G>A (p.Gly392Glu) SNV Pathogenic 427770 rs1114167371 2:228128520-228128520 2:227263804-227263804
11 COL4A4 NM_000092.4(COL4A4):c.2638_2639del (p.Ala880fs) Deletion Pathogenic 441259 rs1553641611 2:227920738-227920739 2:227056022-227056023
12 COL4A4 NM_000092.4(COL4A4):c.4694_4713del (p.Arg1565fs) Deletion Pathogenic 522488 rs1553612433 2:227872830-227872849 2:227008114-227008133
13 COL4A4 NM_000092.5(COL4A4):c.2969-1G>C SNV Pathogenic 522543 rs1553639043 2:227915875-227915875 2:227051159-227051159
14 COL4A4 NM_000092.4(COL4A4):c.1598G>A (p.Gly533Asp) SNV Pathogenic 556434 rs1553669704 2:227953394-227953394 2:227088678-227088678
15 MFF-DT NM_000091.4(COL4A3):c.3813del (p.Ser1272fs) Deletion Pathogenic 599079 rs1559914770 2:228163457-228163457 2:227298741-227298741
16 COL4A4 NM_000092.4(COL4A4):c.4820del (p.Ala1607fs) Deletion Pathogenic 599086 rs1559394354 2:227872294-227872294 2:227007578-227007578
17 MFF-DT NM_000091.4(COL4A3):c.3230G>A (p.Gly1077Asp) SNV Pathogenic 599139 rs1559909384 2:228157926-228157926 2:227293210-227293210
18 COL4A4 NM_000092.4(COL4A4):c.1221_1237del (p.Gly408fs) Deletion Pathogenic 599148 rs1559606445 2:227958973-227958989 2:227094257-227094273
19 COL4A4 NM_000092.4(COL4A4):c.4599T>G (p.Tyr1533Ter) SNV Pathogenic 557279 rs369922627 2:227872944-227872944 2:227008228-227008228
20 COL4A4 NM_000092.4(COL4A4):c.2878G>A (p.Gly960Arg) SNV Pathogenic 550472 rs769783985 2:227917111-227917111 2:227052395-227052395
21 MFF-DT NM_000091.5(COL4A3):c.4235G>T (p.Gly1412Val) SNV Pathogenic 870362 2:228169782-228169782 2:227305066-227305066
22 MFF-DT NM_000091.4(COL4A3):c.4347_4353del (p.Arg1450fs) Deletion Pathogenic 550302 rs748026887 2:228172517-228172523 2:227307801-227307807
23 COL4A4 NM_000092.5(COL4A4):c.1389del (p.Asn464fs) Deletion Pathogenic 635494 rs1576428862 2:227954654-227954654 2:227089938-227089938
24 MFF-DT NM_000091.4(COL4A3):c.3266G>A (p.Gly1089Asp) SNV Pathogenic 635506 rs1574813382 2:228157962-228157962 2:227293246-227293246
25 MFF-DT NM_000091.5(COL4A3):c.3580del (p.Arg1194fs) Deletion Pathogenic 635508 rs1574823188 2:228162404-228162404 2:227297688-227297688
26 COL4A4 NM_000092.5(COL4A4):c.1221del (p.Pro409fs) Deletion Pathogenic 635526 rs1576457876 2:227958989-227958989 2:227094273-227094273
27 MFF-DT NM_000091.4(COL4A3):c.3575G>A (p.Gly1192Glu) SNV Pathogenic 635543 rs1574823172 2:228162399-228162399 2:227297683-227297683
28 COL4A4 NM_000092.5(COL4A4):c.2171del (p.Arg724fs) Deletion Pathogenic 635547 rs1576207007 2:227924333-227924333 2:227059617-227059617
29 MFF-DT NM_000091.5(COL4A3):c.142A>T (p.Lys48Ter) SNV Pathogenic 829844 rs1207493576 2:228102738-228102738 2:227238022-227238022
30 MFF-DT NM_000091.5(COL4A3):c.1505-2A>C SNV Pathogenic 829845 rs1247804051 2:228134624-228134624 2:227269908-227269908
31 COL4A4 NM_000092.5(COL4A4):c.192+1_192+2delinsTGATGTA Indel Pathogenic 829857 rs1576812577 2:228004875-228004876 2:227140159-227140160
32 COL4A4 NM_000092.5(COL4A4):c.4522G>A (p.Gly1508Ser) SNV Pathogenic 829920 rs1003748020 2:227875029-227875029 2:227010313-227010313
33 MFF-DT NM_000091.5(COL4A3):c.3013_3038del (p.Pro1005fs) Deletion Pathogenic 829933 rs1574803208 2:228154745-228154770 2:227290029-227290054
34 MFF-DT NM_000091.4(COL4A3):c.2621_2622delinsT (p.Gly874fs) Indel Pathogenic 551951 rs1553760257 2:228147213-228147214 2:227282497-227282498
35 MFF-DT NM_000091.5(COL4A3):c.1559G>A (p.Gly520Asp) SNV Pathogenic 830011 rs1574745989 2:228134680-228134680 2:227269964-227269964
36 MFF-DT NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter) SNV Pathogenic 558496 rs1346138010 2:228111404-228111404 2:227246688-227246688
37 COL4A4 NM_000092.4(COL4A4):c.3834dup (p.Gly1279fs) Duplication Pathogenic 522537 rs1553625684 2:227895297-227895298 2:227030581-227030582
38 MFF-DT NM_000091.4(COL4A3):c.2023_2030ATCCCTGG[3] (p.Gly680fs) Microsatellite Pathogenic 555966 rs1553758893 2:228142166-228142167 2:227277450-227277451
39 MFF-DT NM_000091.4(COL4A3):c.4803del (p.Gly1602fs) Deletion Pathogenic 550931 rs760846085 2:228175539-228175539 2:227310823-227310823
40 COL4A4 NM_000092.4(COL4A4):c.4460_4463dup (p.Trp1488fs) Duplication Pathogenic 635509 rs1575714693 2:227875087-227875088 2:227010371-227010372
41 COL4A4 NM_000092.5(COL4A4):c.4624_4627TGGC[1] (p.Leu1543fs) Microsatellite Pathogenic 829937 rs1575696646 2:227872912-227872915 2:227008196-227008199
42 COL4A4 NM_000092.5(COL4A4):c.678_682dup (p.Pro228fs) Duplication Pathogenic 830016 rs1576571835 2:227973559-227973560 2:227108843-227108844
43 MFF-DT NM_000091.4(COL4A3):c.3955G>A (p.Gly1319Arg) SNV Pathogenic 373896 rs765661521 2:228167826-228167826 2:227303110-227303110
44 MFF-DT NM_000091.4(COL4A3):c.3109C>T (p.Arg1037Ter) SNV Pathogenic 554110 rs766900945 2:228155501-228155501 2:227290785-227290785
45 MFF-DT NM_000091.5(COL4A3):c.2746+1G>T SNV Pathogenic 807389 rs1574786225 2:228148573-228148573 2:227283857-227283857
46 MFF-DT NM_000091.5(COL4A3):c.2747-1G>T SNV Pathogenic 807390 rs1196996393 2:228148926-228148926 2:227284210-227284210
47 COL4A3 NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter) SNV Pathogenic 807562 rs1453590085 2:228029470-228029470 2:227164754-227164754
48 MFF-DT NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter) SNV Pathogenic 807563 rs750308686 2:228110696-228110696 2:227245980-227245980
49 MFF-DT NM_000091.5(COL4A3):c.816dup (p.Pro273fs) Duplication Pathogenic 807564 rs1574701767 2:228118877-228118878 2:227254161-227254162
50 MFF-DT NM_000091.4(COL4A3):c.4420_4424del5 Microsatellite Pathogenic 556032 rs1445615417 2:228172584-228172588 2:227307868-227307872

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 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.86 MYH9 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5
2
Show member pathways
13.48 MYH9 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5
3
Show member pathways
13.39 MYH9 LAMB1 COL4A5 COL4A4 COL4A3 COL4A2
4
Show member pathways
13.17 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
5
Show member pathways
13.14 MYH9 LAMB1 COL4A6 COL4A5 COL4A4 COL4A3
6
Show member pathways
13.1 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
7
Show member pathways
13 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
8 12.95 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
9
Show member pathways
12.93 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
10
Show member pathways
12.8 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
11
Show member pathways
12.79 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
12
Show member pathways
12.62 MYH9 LAMB1 COL4A6 COL4A5 COL4A4 COL4A3
13 12.03 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
14
Show member pathways
12.02 COL4A2 COL4A1 COL1A2 COL1A1 ALB
15 11.94 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
16 11.92 NPHS2 MYH9 LAMB2 LAMA5 COL4A5 COL4A4
17
Show member pathways
11.89 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
18 11.69 LAMB1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
19 11.63 COL4A2 COL4A1 COL1A2 COL1A1
20 11.59 LAMB1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
21 11.56 LAMB2 LAMB1 LAMA5
22 11.55 LAMB2 COL4A2 COL4A1 COL1A2
23 11.54 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
24 11.51 LAMB1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
25 11.46 LAMB2 LAMB1 LAMA5 COL1A2 COL1A1
26 11.37 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
27 11.12 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4

GO Terms for Alport Syndrome

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 10.21 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
2 extracellular exosome GO:0070062 10.19 NPHS2 MYH9 MIR21 LAMB2 LAMB1 LAMA5
3 extracellular space GO:0005615 10.18 MIR21 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
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 9.76 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 9.48 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 15)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.88 MYH9 LAMB2 LAMB1 LAMA5 COL4A6 COL4A3
2 negative regulation of angiogenesis GO:0016525 9.72 MIR21 COL4A3 COL4A2
3 blood vessel development GO:0001568 9.63 MIR21 COL1A2 COL1A1
4 substrate adhesion-dependent cell spreading GO:0034446 9.61 LAMB2 LAMB1 LAMA5
5 collagen metabolic process GO:0032963 9.54 MIR21 COL1A2
6 tissue development GO:0009888 9.54 LAMB2 LAMB1 LAMA5
7 skin morphogenesis GO:0043589 9.52 COL1A2 COL1A1
8 basement membrane assembly GO:0070831 9.51 LAMB2 LAMB1
9 neuromuscular junction development GO:0007528 9.5 LAMB2 COL4A5 COL4A1
10 glomerular basement membrane development GO:0032836 9.49 COL4A4 COL4A3
11 cell morphogenesis involved in differentiation GO:0000904 9.48 MYH9 LAMB2
12 cellular response to amino acid stimulus GO:0071230 9.46 COL4A6 COL4A1 COL1A2 COL1A1
13 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.43 COL4A6 COL4A5 COL4A3 COL4A2 COL4A1 COL1A1
14 extracellular matrix organization GO:0030198 9.36 LAMB2 LAMB1 LAMA5 COL4A6 COL4A5 COL4A4
15 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 for Alport Syndrome

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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