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TBMN
MCID: ALP004
MIFTS: 65

Alport Syndrome (TBMN)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Alport Syndrome

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MalaCards integrated aliases for Alport Syndrome:

Name: Alport Syndrome 39 12 77 25 54 26 60 38 30 13 6 15
Hereditary Nephritis 12 25 26 17
Thin Basement Membrane Nephropathy 25 54
Hemorrhagic Hereditary Nephritis 54 26
Congenital Hereditary Hematuria 54 26
Hemorrhagic Familial Nephritis 54 26
Alport Syndrome, X-Linked 54 56
Hereditary Familial Congenital Hemorrhagic Nephritis 26
Hematuria-Nephropathy-Deafness Syndrome 26
Hereditary Interstitial Pyelonephritis 26
Familial Benign Essential Hematuria 54
Thin Basement Membrane Disease 25
Hematuric Hereditary Nephritis 26
Hereditary Hematuria Syndrome 26
Familial Hematuric Nephritis 54
Benign Hereditary Nephritis 54
Alport Deafness-Nephropathy 60
Benign Essential Hematuria 54
Thin Membrane Nephropathy 54
Benign Familial Hematuria 54
Nephritis, Hereditary 45
Familial Nephritis 25
Alports Syndrome 56
Syndrome, Alport 41
Tbmn 54

Characteristics:

Orphanet epidemiological data:

60
alport syndrome
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

GeneReviews:

25
Penetrance Penetrance may be decreased in adas; at present, data are insufficient to draw a definitive conclusion...

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Eye diseases Nephrological diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare eye diseases
Rare renal diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Alport Syndrome

About this section
NIH Rare Diseases : 54 Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome also frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities characteristic of this condition seldom lead to vision loss. In 80% of cases, Alport syndrome is inherited in an X-linked manner and is caused by mutations in the COL4A5 gene. In the remaining cases, it may be inherited in either an autosomal recessive, or rarely in an autosomal dominant manner. In these cases, the condition is caused by mutations in the COL4A3 or COL4A4 genes. Diagnosis of the condition is based on family history of the condition, clinical signs, and specific testing such as a kidney biopsy. The diagnosis can be confirmed by genetic testing. Treatment may include use of a hearing aid, hemodialysis and peritoneal dialysis to treat those with end-stage renal failure, and kidney transplantation. 

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

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

Genetics Home Reference : 26 Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.

Wikipedia : 77 Alport syndrome is a genetic disorder affecting around 1 in 5,000-10,000 children, characterized by... more...

GeneReviews: NBK1207
Sources

Related Diseases for Alport Syndrome

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Diseases in the Alport Syndrome family:

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

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

(show top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 33.2 ACSL4 AMMECR1 KCNE5
2 hematuria, benign familial 32.3 COL4A3 COL4A4 COL4A5
3 leiomyomatosis 30.8 COL4A3 COL4A4 COL4A5 COL4A6
4 glomerulonephritis 30.4 COL4A3 COL4A4 COL4A5
5 kidney disease 30.2 COL4A3 COL4A4 COL4A5 MYH9
6 focal segmental glomerulosclerosis 30.0 COL4A3 COL4A4 COL4A5 MYH9
7 alport syndrome 2, autosomal recessive 12.6
8 alport syndrome 3, autosomal dominant 12.6
9 autosomal recessive alport syndrome 12.6
10 autosomal dominant alport syndrome 12.6
11 alport syndrome 1, x-linked 12.5
12 x-linked alport syndrome 12.5
13 leiomyomatosis, diffuse, with alport syndrome 12.3
14 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 12.1
15 x-linked alport syndrome-diffuse leiomyomatosis 12.0
16 amme complex 12.0
17 dyschondrosteosis and nephritis 11.4
18 nephropathy with pretibial epidermolysis bullosa and deafness 11.1
19 renal failure, progressive, with hypertension 11.1
20 nephrocalcinosis 11.1
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
22 cataract 10.2
23 focal segmental glomerulosclerosis 1 10.2
24 polycystic kidney disease 10.2
25 macular holes 10.2
26 anti-basement membrane glomerulonephritis 10.1 COL4A3 COL4A4 COL4A5
27 goodpasture syndrome 10.1 COL4A3 COL4A4 COL4A5
28 malignant cylindroma 10.1 COL4A1 COL4A5
29 nephrolithiasis 10.1
30 aortitis 10.1
31 carotid artery dissection 10.1
32 cerebral aneurysms 10.1
33 inner ear disease 10.1 COL4A5 MYH9
34 retinal detachment 10.0
35 end stage renal failure 10.0
36 renal fibrosis 10.0
37 crohn's disease 10.0
38 crohn's colitis 10.0
39 iga glomerulonephritis 9.9
40 nephrotic syndrome 9.9
41 familial porencephaly 9.9 COL4A1 COL4A2
42 porencephaly 9.9 COL4A1 COL4A2
43 breast cancer 9.9
44 corneal dystrophy, posterior polymorphous, 1 9.9
45 frasier syndrome 9.9
46 neurofibromatosis, type i 9.9
47 protoporphyria, erythropoietic, 1 9.9
48 hemolytic uremic syndrome, atypical 1 9.9
49 retinoschisis 1, x-linked, juvenile 9.9
50 macular degeneration, age-related, 1 9.9

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



Diseases related to Alport Syndrome
Sources

Symptoms & Phenotypes for Alport Syndrome

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Human phenotypes related to Alport Syndrome:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
2 retinopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000488
3 glomerulopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100820
4 hematuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0000790
5 morphological abnormality of the semicircular canal 60 33 hallmark (90%) Very frequent (99-80%) HP:0011380
6 hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0000822
7 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
8 renal insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0000083
9 proteinuria 60 33 frequent (33%) Frequent (79-30%) HP:0000093
10 fatigue 60 33 frequent (33%) Frequent (79-30%) HP:0012378
11 dyspnea 60 33 frequent (33%) Frequent (79-30%) HP:0002094
12 pallor 60 33 frequent (33%) Frequent (79-30%) HP:0000980
13 weight loss 60 33 frequent (33%) Frequent (79-30%) HP:0001824
14 dry skin 60 33 frequent (33%) Frequent (79-30%) HP:0000958
15 nephrotic syndrome 60 33 frequent (33%) Frequent (79-30%) HP:0000100
16 lentiglobus 60 33 frequent (33%) Frequent (79-30%) HP:0011527
17 periorbital edema 60 33 frequent (33%) Frequent (79-30%) HP:0100539
18 headache 60 33 frequent (33%) Frequent (79-30%) HP:0002315
19 tinnitus 60 33 frequent (33%) Frequent (79-30%) HP:0000360
20 leukopenia 60 33 frequent (33%) Frequent (79-30%) HP:0001882
21 pedal edema 33 frequent (33%) HP:0010741
22 dysphagia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002015
23 photophobia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000613
24 vomiting 60 33 occasional (7.5%) Occasional (29-5%) HP:0002013
25 subcutaneous nodule 60 33 occasional (7.5%) Occasional (29-5%) HP:0001482
26 corneal dystrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001131
27 myopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000545
28 thrombocytopenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001873
29 neoplasm of the colon 60 33 occasional (7.5%) Occasional (29-5%) HP:0100273
30 abdominal situs inversus 60 33 occasional (7.5%) Occasional (29-5%) HP:0003363
31 diffuse leiomyomatosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0006756
32 macular dystrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0007754
33 uterine neoplasm 60 33 occasional (7.5%) Occasional (29-5%) HP:0010784
34 edema of the lower limbs 60 Frequent (79-30%)

MGI Mouse Phenotypes related to Alport Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.08 ACSL4 COL1A1 COL4A1 COL4A2 COL4A3 COL4A5
2 growth/size/body region MP:0005378 10.06 ACSL4 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4
3 homeostasis/metabolism MP:0005376 10.02 ACSL4 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4
4 hearing/vestibular/ear MP:0005377 9.98 ACSL4 COL1A1 COL4A2 COL4A3 COL4A4 LAMA5
5 hematopoietic system MP:0005397 9.95 ACSL4 COL1A1 COL4A1 COL4A2 COL4A5 LAMA5
6 immune system MP:0005387 9.92 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
7 mortality/aging MP:0010768 9.81 ACSL4 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4
8 limbs/digits/tail MP:0005371 9.56 ACSL4 COL1A1 COL4A2 LAMA5
9 renal/urinary system MP:0005367 9.5 COL1A1 COL4A1 COL4A3 COL4A4 COL4A5 LAMA5
10 vision/eye MP:0005391 9.23 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
Sources

Drugs & Therapeutics for Alport Syndrome

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

(show all 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,Phase 2
3
protease inhibitors Phase 3,Phase 2
4 Angiotensin-Converting Enzyme Inhibitors Phase 3,Phase 2
5 Antihypertensive Agents Phase 3,Phase 2
6
Valsartan Approved, Investigational Phase 2 137862-53-4 60846
7
Benazepril Approved, Investigational Phase 2 86541-75-5 5362124
8
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198 65143
9 Giapreza Phase 2
10 Lipid Regulating Agents Phase 2
11 Liver Extracts Phase 2
12 Anticholesteremic Agents Phase 2
13 Hypolipidemic Agents Phase 2
14 Angiotensin II Type 1 Receptor Blockers Phase 2
15 Antimetabolites Phase 2
16 Angiotensinogen Phase 2
17 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
18 Angiotensin Receptor Antagonists Phase 2
19
Enalapril Approved, Vet_approved 75847-73-3 5362032 40466924
20
Enalaprilat Approved 76420-72-9 6917719
21
Spironolactone Approved 52-01-7, 1952-01-7 5833
22 Hormone Antagonists
23 Diuretics, Potassium Sparing
24 diuretics
25 Hormones, Hormone Substitutes, and Hormone Antagonists
26 Hormones
27 Natriuretic Agents
28 Mineralocorticoid Receptor Antagonists
29 Mineralocorticoids

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 An Extended Access Program for Bardoxolone Methyl in Patients With CKD (EAGLE) Recruiting NCT03749447 Phase 3 Bardoxolone methyl
2 A Phase 2/3 Trial of the Efficacy and Safety of Bardoxolone Methyl in Patients With Alport Syndrome - CARDINAL Active, not recruiting NCT03019185 Phase 2, Phase 3 Placebo Oral Capsule;Bardoxolone Methyl
3 Efficacy and Safety Study to Delay Renal Failure in Children With Alport Syndrome Active, not recruiting NCT01485978 Phase 3 Ramipril;placebo to ramipril;Ramipril
4 Effects of an Intensified Treatment With ACE-I,ATA II and Statins in Alport Syndrome Completed NCT00309257 Phase 2 ACE I, ATA II and Statins;Benazepril, Valsartan and Fluvastatin
5 Study of RG-012 in Male Subjects With Alport Syndrome Suspended NCT02855268 Phase 2 RG-012;Placebo
6 A Study of RG-012 in Subjects With Alport Syndrome Active, not recruiting NCT03373786 Phase 1 RG012
7 Aluminum and Auditory Function in ESRD Unknown status NCT00243958
8 Multi-center Controlled Clinical Trials in Alport Syndrome-A Feasibility Study Completed NCT01696253
9 ATHENA: Natural History of Disease Study in Alport Syndrome Patients Completed NCT02136862
10 Urinary Biomarkers of the Progression of Alport Kidney Disease Completed NCT01705132
11 A Prospective Study of Microalbuminuria in Untreated Boys With Alport Syndrome Completed NCT00622544
12 Urine, DNA and Clinical Information Collection From Patients With Alport Nephropathy. Completed NCT03074357
13 Enalapril in Collagen Type 4 Nephropathy Completed NCT01465126
14 Biomarker for Alport Disease: BioAlport Recruiting NCT02718027
15 Alport Syndrome Treatments and Outcomes Registry Recruiting NCT00481130
16 European Alport Therapy Registry - European Initiative Towards Delaying Renal Failure in Alport Syndrome Recruiting NCT02378805 ACE-inhibitor;AT1-inhibitor;HMG-Coenzyme inhibitor (statin);Spironolactone;Paricalcitol
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 30
Sources

Anatomical Context for Alport Syndrome

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MalaCards organs/tissues related to Alport Syndrome:

42
Kidney, Eye, Testes, Skin, Liver, Colon, 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 Podocyte Layer Podocytes Affected by disease, potential therapeutic candidate
2 Kidney Glomerular Basement Membrane Affected by disease
Sources

Publications for Alport Syndrome

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Articles related to Alport Syndrome:

(show top 50) (show all 754)
# Title Authors Year
1
Establishment of microRNA, transcript and protein regulatory networks in Alport syndrome induced pluripotent stem cells. ( 30483741 )
2019
2
Establishment of X-linked Alport syndrome model mice with a Col4a5 R471X mutation. ( 30582011 )
2019
3
Genetic diagnosis of Alport syndrome. ( 30651425 )
2019
4
Features of Autosomal Recessive Alport Syndrome: A Systematic Review. ( 30717457 )
2019
5
Endothelial Cell-Specific Collagen IV α3 Expression Does not Rescue Alport Syndrome in Col4a3-/- Mice. ( 30724107 )
2019
6
Increased Subfoveal Choroidal Thickness and Retinal Structure Changes on Optical Coherence Tomography in Pediatric Alport Syndrome Patients. ( 30805210 )
2019
7
Dysregulated Expression of microRNA-21 and Disease Related Genes in Human Patients and Mouse Model of Alport Syndrome. ( 30808234 )
2019
8
Non-collagen genes role in digenic Alport syndrome. ( 30808327 )
2019
9
Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X-linked Alport syndrome. ( 30883042 )
2019
10
Bilateral giant macular holes: A rare manifestation of Alport syndrome. ( 29873249 )
2018
11
Alport syndrome and Pierson syndrome: Diseases of the glomerular basement membrane. ( 29673759 )
2018
12
INNER MACULAR CHANGES AFTER VITRECTOMY WITH INTERNAL LIMITING MEMBRANE PEELING FOR RHEGMATOGENOUS RETINAL DETACHMENT: Similarity With Alport Syndrome. ( 30204731 )
2018
13
Diagnosing Alport Syndrome: Lessons from the Pediatric Ward. ( 30212818 )
2018
14
Long-term survival in Japanese renal transplant recipients with Alport syndrome: a retrospective study. ( 30285655 )
2018
15
A family case of X-linked Alport syndrome patients with a novel variant in COL4A5. ( 30293132 )
2018
16
Hydroxypropyl-β-cyclodextrin protects from kidney disease in experimental Alport syndrome and focal segmental glomerulosclerosis. ( 30301568 )
2018
17
Renal transplantation in patients with Alport syndrome: patient selection, outcomes, and donor evaluation. ( 30410383 )
2018
18
Should We Diagnose Autosomal Dominant Alport Syndrome When There Is a Pathogenic Heterozygous COL4A3 or COL4A4 Variant? ( 30450445 )
2018
19
DNA-encoded library-derived DDR1 inhibitor prevents fibrosis and renal function loss in a genetic mouse model of Alport syndrome. ( 30452219 )
2018
20
De novo mutations in COL4A5 identified by whole exome sequencing in two girls with Alport syndrome in Korea. ( 30477285 )
2018
21
Alport syndrome: deducing the mode of inheritance from the presence of haematuria in family members. ( 30506145 )
2018
22
A rare case of Alport syndrome, atypical hemolytic uremic syndrome and Pauci-immune crescentic glomerulonephritis. ( 30541482 )
2018
23
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males. ( 30577881 )
2018
24
Extracellular Matrix: Alport Syndrome. ( 30578514 )
2018
25
Bilateral Anterior Lenticonus associated with Alport Syndrome. ( 30597100 )
2018
26
Identification of a Novel COL4A4 Variant in Compound-Heterozygous State in a Patient With Alport Syndrome and Histological Findings Similar to Focal Segmental Glomerulosclerosis (FSGS). ( 30745910 )
2018
27
STAT3 inhibition attenuates the progressive phenotypes of Alport syndrome mouse model. ( 28992339 )
2018
28
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome. ( 29098738 )
2018
29
Temporal retinal thinning and the diagnosis of Alport syndrome and Thin basement membrane nephropathy. ( 29172845 )
2018
30
Pathogenicity of a Human Laminin β2 Mutation Revealed in Models of Alport Syndrome. ( 29263159 )
2018
31
Should We Increase GFR with Bardoxolone in Alport Syndrome? ( 29371420 )
2018
32
A 7-Year-Old Boy With Alport Syndrome and Vomiting. ( 29409873 )
2018
33
Detection of Choriocapillaris Loss in Alport Syndrome With Swept-Source OCT Angiography. ( 29443365 )
2018
34
A patient with MEN1 and end-stage chronic kidney disease due to Alport syndrome: Decision making on the eligibility of transplantation. ( 29468058 )
2018
35
Alport syndrome and pregnancy: a case series and literature review. ( 29492669 )
2018
36
Treatment of breast cancer in a patient of Alport syndrome-induced chronic renal failure: A triumph story. ( 29516942 )
2018
37
A Split-Luciferase-Based Trimer Formation Assay as a High-throughput Screening Platform for Therapeutics in Alport Syndrome. ( 29526710 )
2018
38
A unique evolution of the kidney phenotype in a patient with autosomal recessive Alport syndrome. ( 29530752 )
2018
39
Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group. ( 29551517 )
2018
40
Osteopontin drives renal metabolic dysfunction in Alport syndrome. ( 29643464 )
2018
41
Shining a Light on Alport Syndrome. ( 29775602 )
2018
42
Genotype and Outcome After Kidney Transplantation in Alport Syndrome. ( 29854973 )
2018
43
Urinary epidermal growth factor as a prognostic marker for the progression of Alport syndrome in children. ( 29948307 )
2018
44
Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome. ( 29959198 )
2018
45
Expert consensus guidelines for the genetic diagnosis of Alport syndrome. ( 29987460 )
2018
46
Germline mosaicism is a pitfall in the diagnosis of "sporadic" X-linked Alport syndrome. ( 30062677 )
2018
47
Induced Pluripotent Stem Cell-Derived Podocyte-Like Cells as Models for Assessing Mechanisms Underlying Heritable Disease Phenotype: Initial Studies Using Two Alport Syndrome Patient Lines Indicate Impaired Potassium Channel Activity. ( 30104322 )
2018
48
It is an Alport syndrome, not a simple hypertensive retinopathy. ( 30127153 )
2018
49
Anterior lenticonus associated with Alport syndrome. ( 30127161 )
2018
50
A review of clinical characteristics and genetic backgrounds in Alport syndrome. ( 30128941 )
2018
Sources

Variations for Alport Syndrome

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ClinVar genetic disease variations for Alport Syndrome:

6 (show top 50) (show all 482)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL4A4 NM_000092.4(COL4A4): c.3979G> A (p.Val1327Met) single nucleotide variant Benign rs2229813 GRCh37 Chromosome 2, 227892720: 227892720
2 COL4A4 NM_000092.4(COL4A4): c.3979G> A (p.Val1327Met) single nucleotide variant Benign rs2229813 GRCh38 Chromosome 2, 227028004: 227028004
3 COL4A4 NM_000092.4(COL4A4): c.1781A> G (p.Glu594Gly) single nucleotide variant Benign/Likely benign rs35998949 GRCh37 Chromosome 2, 227945181: 227945181
4 COL4A4 NM_000092.4(COL4A4): c.1781A> G (p.Glu594Gly) single nucleotide variant Benign/Likely benign rs35998949 GRCh38 Chromosome 2, 227080465: 227080465
5 COL4A4 NM_000092.4(COL4A4): c.5016A> G (p.Glu1672=) single nucleotide variant Conflicting interpretations of pathogenicity rs34761049 GRCh37 Chromosome 2, 227872098: 227872098
6 COL4A4 NM_000092.4(COL4A4): c.5016A> G (p.Glu1672=) single nucleotide variant Conflicting interpretations of pathogenicity rs34761049 GRCh38 Chromosome 2, 227007382: 227007382
7 COL4A4 NM_000092.4(COL4A4): c.4932C> T (p.Phe1644=) single nucleotide variant Benign rs2228557 GRCh37 Chromosome 2, 227872182: 227872182
8 COL4A4 NM_000092.4(COL4A4): c.4932C> T (p.Phe1644=) single nucleotide variant Benign rs2228557 GRCh38 Chromosome 2, 227007466: 227007466
9 COL4A4 NM_000092.4(COL4A4): c.4548A> G (p.Val1516=) single nucleotide variant Benign rs2228555 GRCh37 Chromosome 2, 227872995: 227872995
10 COL4A4 NM_000092.4(COL4A4): c.4548A> G (p.Val1516=) single nucleotide variant Benign rs2228555 GRCh38 Chromosome 2, 227008279: 227008279
11 COL4A4 NM_000092.4(COL4A4): c.4523-8T> C single nucleotide variant Benign rs13419076 GRCh37 Chromosome 2, 227873028: 227873028
12 COL4A4 NM_000092.4(COL4A4): c.4523-8T> C single nucleotide variant Benign rs13419076 GRCh38 Chromosome 2, 227008312: 227008312
13 COL4A4 NM_000092.4(COL4A4): c.4217-15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs200926310 GRCh37 Chromosome 2, 227877028: 227877028
14 COL4A4 NM_000092.4(COL4A4): c.4217-15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs200926310 GRCh38 Chromosome 2, 227012312: 227012312
15 COL4A4 NM_000092.4(COL4A4): c.4207T> C (p.Ser1403Pro) single nucleotide variant Benign rs3752895 GRCh37 Chromosome 2, 227886773: 227886773
16 COL4A4 NM_000092.4(COL4A4): c.4207T> C (p.Ser1403Pro) single nucleotide variant Benign rs3752895 GRCh38 Chromosome 2, 227022057: 227022057
17 COL4A4 NM_000092.4(COL4A4): c.4090+14T> C single nucleotide variant Conflicting interpretations of pathogenicity rs147376687 GRCh37 Chromosome 2, 227890504: 227890504
18 COL4A4 NM_000092.4(COL4A4): c.4090+14T> C single nucleotide variant Conflicting interpretations of pathogenicity rs147376687 GRCh38 Chromosome 2, 227025788: 227025788
19 COL4A4 NM_000092.4(COL4A4): c.4080G> A (p.Pro1360=) single nucleotide variant Benign rs2228556 GRCh37 Chromosome 2, 227892619: 227892619
20 COL4A4 NM_000092.4(COL4A4): c.4080G> A (p.Pro1360=) single nucleotide variant Benign rs2228556 GRCh38 Chromosome 2, 227027903: 227027903
21 COL4A4 NM_000092.4(COL4A4): c.4041A> G (p.Leu1347=) single nucleotide variant Benign/Likely benign rs16823077 GRCh37 Chromosome 2, 227892658: 227892658
22 COL4A4 NM_000092.4(COL4A4): c.4041A> G (p.Leu1347=) single nucleotide variant Benign/Likely benign rs16823077 GRCh38 Chromosome 2, 227027942: 227027942
23 COL4A4 NM_000092.4(COL4A4): c.3817+9G> C single nucleotide variant Benign rs13423714 GRCh37 Chromosome 2, 227896652: 227896652
24 COL4A4 NM_000092.4(COL4A4): c.3817+9G> C single nucleotide variant Benign rs13423714 GRCh38 Chromosome 2, 227031936: 227031936
25 COL4A4 NM_000092.4(COL4A4): c.3684G> A (p.Lys1228=) single nucleotide variant Benign rs2229812 GRCh37 Chromosome 2, 227896886: 227896886
26 COL4A4 NM_000092.4(COL4A4): c.3684G> A (p.Lys1228=) single nucleotide variant Benign rs2229812 GRCh38 Chromosome 2, 227032170: 227032170
27 COL4A4 NM_000092.4(COL4A4): c.3594G> A (p.Gly1198=) single nucleotide variant Benign rs10203363 GRCh37 Chromosome 2, 227896976: 227896976
28 COL4A4 NM_000092.4(COL4A4): c.3594G> A (p.Gly1198=) single nucleotide variant Benign rs10203363 GRCh38 Chromosome 2, 227032260: 227032260
29 COL4A4 NM_000092.4(COL4A4): c.3486A> G (p.Pro1162=) single nucleotide variant Benign/Likely benign rs2229815 GRCh37 Chromosome 2, 227906883: 227906883
30 COL4A4 NM_000092.4(COL4A4): c.3486A> G (p.Pro1162=) single nucleotide variant Benign/Likely benign rs2229815 GRCh38 Chromosome 2, 227042167: 227042167
31 COL4A4 NM_000092.4(COL4A4): c.3011C> T (p.Pro1004Leu) single nucleotide variant Benign rs1800517 GRCh37 Chromosome 2, 227915832: 227915832
32 COL4A4 NM_000092.4(COL4A4): c.3011C> T (p.Pro1004Leu) single nucleotide variant Benign rs1800517 GRCh38 Chromosome 2, 227051116: 227051116
33 COL4A4 NM_000092.4(COL4A4): c.2899A> G (p.Ile967Val) single nucleotide variant Benign/Likely benign rs80243096 GRCh37 Chromosome 2, 227917090: 227917090
34 COL4A4 NM_000092.4(COL4A4): c.2899A> G (p.Ile967Val) single nucleotide variant Benign/Likely benign rs80243096 GRCh38 Chromosome 2, 227052374: 227052374
35 COL4A4 NM_000092.4(COL4A4): c.2717-5A> T single nucleotide variant Conflicting interpretations of pathogenicity rs1800519 GRCh37 Chromosome 2, 227919458: 227919458
36 COL4A4 NM_000092.4(COL4A4): c.2717-5A> T single nucleotide variant Conflicting interpretations of pathogenicity rs1800519 GRCh38 Chromosome 2, 227054742: 227054742
37 COL4A4 NM_000092.4(COL4A4): c.2630G> A (p.Arg877Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs150979437 GRCh37 Chromosome 2, 227920747: 227920747
38 COL4A4 NM_000092.4(COL4A4): c.2630G> A (p.Arg877Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs150979437 GRCh38 Chromosome 2, 227056031: 227056031
39 COL4A4 NM_000092.4(COL4A4): c.2439A> T (p.Gly813=) single nucleotide variant Benign/Likely benign rs34835657 GRCh37 Chromosome 2, 227922261: 227922261
40 COL4A4 NM_000092.4(COL4A4): c.2439A> T (p.Gly813=) single nucleotide variant Benign/Likely benign rs34835657 GRCh38 Chromosome 2, 227057545: 227057545
41 COL4A4 NM_000092.4(COL4A4): c.2384-5T> C single nucleotide variant Benign/Likely benign rs3769641 GRCh37 Chromosome 2, 227922321: 227922321
42 COL4A4 NM_000092.4(COL4A4): c.2384-5T> C single nucleotide variant Benign/Likely benign rs3769641 GRCh38 Chromosome 2, 227057605: 227057605
43 COL4A4 NM_000092.4(COL4A4): c.2276C> T (p.Pro759Leu) single nucleotide variant Benign/Likely benign rs36121515 GRCh37 Chromosome 2, 227924228: 227924228
44 COL4A4 NM_000092.4(COL4A4): c.2276C> T (p.Pro759Leu) single nucleotide variant Benign/Likely benign rs36121515 GRCh38 Chromosome 2, 227059512: 227059512
45 COL4A4 NM_000092.4(COL4A4): c.2008G> A (p.Val670Ile) single nucleotide variant Benign/Likely benign rs34236495 GRCh37 Chromosome 2, 227927294: 227927294
46 COL4A4 NM_000092.4(COL4A4): c.2008G> A (p.Val670Ile) single nucleotide variant Benign/Likely benign rs34236495 GRCh38 Chromosome 2, 227062578: 227062578
47 COL4A4 NM_000092.4(COL4A4): c.1634G> C (p.Gly545Ala) single nucleotide variant Benign/Likely benign rs1800516 GRCh37 Chromosome 2, 227946893: 227946893
48 COL4A4 NM_000092.4(COL4A4): c.1634G> C (p.Gly545Ala) single nucleotide variant Benign/Likely benign rs1800516 GRCh38 Chromosome 2, 227082177: 227082177
49 COL4A4 NM_000092.4(COL4A4): c.1444C> T (p.Pro482Ser) single nucleotide variant Benign rs2229814 GRCh38 Chromosome 2, 227089883: 227089883
50 COL4A4 NM_000092.4(COL4A4): c.1444C> T (p.Pro482Ser) single nucleotide variant Benign rs2229814 GRCh37 Chromosome 2, 227954599: 227954599
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:

38
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512

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

(show all 27)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 65
Show member pathways
 13.73 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
2
Integrin Pathway 65
Show member pathways
 13.37 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
3
Developmental Biology 67
Show member pathways
 13.31 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 MYH9
4
Phospholipase-C Pathway 65
Show member pathways
 13.05 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
5
RNA Polymerase II Transcription Initiation And Promoter Clearance 67
Show member pathways
 13.03 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
6
Circadian entrainment 38
Show member pathways
 13.01 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
7
PI3K-Akt signaling pathway 38
Show member pathways
 12.97 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
8
Focal Adhesion 1 38
Show member pathways
 12.89 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
9
Pathways in cancer 38
12.86 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6
10
Collagen chain trimerization 67
Show member pathways
 12.85 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
11
Degradation of the extracellular matrix 67
Show member pathways
 12.73 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
12
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 23
Show member pathways
 12.62 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
13
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 23
Show member pathways
 12.19 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
14
ECM-receptor interaction 38
Show member pathways
 12.03 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
15
AGE-RAGE signaling pathway in diabetic complications 38
11.91 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
16
Small cell lung cancer 38
11.83 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6
17
Binding and Uptake of Ligands by Scavenger Receptors 67
Show member pathways
 11.81 COL1A1 COL4A1 COL4A2
18
Primary Focal Segmental Glomerulosclerosis FSGS 1
11.81 COL4A3 COL4A4 COL4A5 LAMA5 MYH9
19
Cell adhesion_Plasmin signaling 23
11.57 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6
20
Amoebiasis 38
11.54 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
21
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 62
11.49 COL1A1 COL4A1 COL4A2
22
Cell adhesion_ECM remodeling 23
11.49 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
23
NCAM1 interactions 67
11.46 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
24
miRNA targets in ECM and membrane receptors 1
11.27 COL4A1 COL4A2
25
Inflammatory Response Pathway 1
11.15 COL1A1 LAMA5
26
G-protein signaling_Rap2B regulation pathway 23
11.02 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
27
Cell adhesion_Endothelial cell contacts by non-junctional mechanisms 23
10.77 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
Sources

GO Terms for Alport Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.91 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
2 collagen-containing extracellular matrix GO:0062023 9.87 COL1A1 COL4A1 COL4A2 COL4A3 COL4A5 COL4A6
3 extracellular matrix GO:0031012 9.86 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
4 basement membrane GO:0005604 9.7 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6
5 neuromuscular junction GO:0031594 9.63 COL4A5 LAMA5 MYH9
6 collagen trimer GO:0005581 9.5 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
7 collagen type IV trimer GO:0005587 9.1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6
8 extracellular region GO:0005576 10.03 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
9 extracellular space GO:0005615 10.01 COL1A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5

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

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

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

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

Sources for Alport Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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