APSX
MCID: ALP004
MIFTS: 69

Alport Syndrome (APSX) malady

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

Aliases & Classifications for Alport Syndrome

Aliases & Descriptions for Alport Syndrome:

Name: Alport Syndrome 54 38 12 50 25 56 29 13 14 69
Alport Syndrome, X-Linked 54 50 66 52 69
Hemorrhagic Hereditary Nephritis 50 25 69
X-Linked Alport Syndrome 12 56 14
Hereditary Nephritis 12 25 69
Congenital Hereditary Hematuria 50 25
Hemorrhagic Familial Nephritis 50 25
Hereditary Familial Congenital Hemorrhagic Nephritis 25
Hematuria-Nephropathy-Deafness Syndrome 25
Hereditary Interstitial Pyelonephritis 25
Nephropathy and Deafness, X-Linked 12
Hematuric Hereditary Nephritis 25
Hereditary Hematuria Syndrome 25
Alport Deafness-Nephropathy 56
Nephritis-Deafness Syndrome 66
Nephropathy and Deafness 66
Nephritis, Hereditary 42
Alports Syndrome 52
Apsx 66
Ats 12

Characteristics:

Orphanet epidemiological data:

56
alport syndrome
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;
x-linked alport syndrome
Inheritance: X-linked dominant; Age of onset: Childhood;

HPO:

32
alport syndrome:
Inheritance heterogeneous x-linked dominant inheritance
Onset and clinical course progressive


Classifications:



External Ids:

OMIM 54 301050
Disease Ontology 12 DOID:0110034 DOID:10983
MeSH 42 D009394
SNOMED-CT 64 399340005 57333009
Orphanet 56 ORPHA63 ORPHA88917
MESH via Orphanet 43 D009394
UMLS via Orphanet 70 C1567741 C1567742
ICD10 via Orphanet 34 Q87.8
UMLS 69 C0027706

Summaries for Alport Syndrome

NIH Rare Diseases : 50 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.  last updated: 3/18/2017

MalaCards based summary : Alport Syndrome, also known as alport syndrome, x-linked, is related to alport syndrome, autosomal dominant and hematuria, benign familial, and has symptoms including fatigue, dyspnea and headache. An important gene associated with Alport Syndrome is COL4A5 (Collagen Type IV Alpha 5 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drugs Ramipril and Angiotensin-Converting Enzyme Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include Kidney and Kidney, and related phenotypes are cardiovascular system and homeostasis/metabolism

Disease Ontology : 12 A monogenic 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.

OMIM : 54 Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to... (301050) more...

UniProtKB/Swiss-Prot : 66 Alport syndrome, X-linked: A syndrome that is characterized by progressive glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness.

Wikipedia : 71 Alport syndrome is a genetic disorder affecting around 1 in 50,000 children, characterized by... more...

Related Diseases for Alport Syndrome

Diseases in the Alport Syndrome family:

Alport Syndrome, Autosomal Recessive Alport Syndrome, Autosomal Dominant

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

(show top 50) (show all 93)
id Related Disease Score Top Affiliating Genes
1 alport syndrome, autosomal dominant 33.8 COL4A3 COL4A4 COL4A5
2 hematuria, benign familial 31.2 COL4A3 COL4A4 COL4A5 COL4A6 MYH9
3 alport syndrome, autosomal recessive 12.3
4 alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis 12.2
5 alport syndrome and thin basement membrane nephropathy 12.0
6 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 11.8
7 pulmonary fungal infections in patients deemed at risk 11.8
8 poliomyelitis in patients with immunodeficiencies deemed at risk 11.8
9 epstein syndrome 11.8
10 x-linked diffuse leiomyomatosis-alport syndrome 11.7
11 fechtner syndrome 11.6
12 arterial tortuosity syndrome 11.6
13 ataxia-telangiectasia 11.5
14 atypical teratoid rhabdoid tumor 11.3
15 thrombophilia due to antithrombin iii deficiency 11.3
16 nijmegen breakage syndrome 11.3
17 ceroid lipofuscinosis, neuronal, 1 11.2
18 hereditary antithrombin deficiency 11.1
19 leiomyomatosis, esophageal and vulval, with nephropathy 11.0
20 andersen syndrome 10.9
21 neural tube defects 10.9
22 ceroid lipofuscinosis, neuronal, 2 10.8
23 intermediate coronary syndrome 10.8
24 nephropathy with pretibial epidermolysis bullosa and deafness 10.8
25 may-hegglin anomaly 10.8
26 sebastian syndrome 10.8
27 nephrocalcinosis 10.8
28 leiomyomatosis 10.4
29 linear verrucous nevus syndrome 10.3 COL4A5 COL4A6
30 malignant migrating partial seizures of infancy 10.3 COL4A1 COL4A5
31 brca1- and brca2-associated hereditary breast and ovarian cancer 10.2 COL4A3 COL4A4 COL4A5
32 fara chlupackova syndrome 10.2 COL4A1 COL4A2
33 membranous nephropathy 10.2
34 cholangitis, primary sclerosing 10.2 COL4A1 LAMA5
35 spinal canal and spinal cord meningioma 10.2 CD79A COL4A3
36 epithelioid neurofibroma 10.1 COL4A3 COL4A4 COL4A5 COL4A6
37 muscular dystrophy 10.1 CD79A MYH9
38 photosensitive epilepsy 10.1 COL4A1 COL4A2
39 esophagitis 10.1
40 osteogenesis imperfecta, type iii 10.1 ALB COL1A2
41 gustavson syndrome 10.1 ACSL4 AMMECR1 COL4A5 KCNE5
42 atopic dermatitis 6 10.1 ALB CD79A
43 gastric cancer 10.1 COL4A3 MYH9 MYO1E
44 colloid adenoma 10.1 ALB CD79A
45 schneiderian carcinoma 10.1 ALB CD79A
46 deafness, autosomal recessive 30 10.0 COL4A1 COL4A2 COL4A3 COL4A4
47 striatonigral degeneration 10.0 ALB CD79A
48 infertility due to extratesticular cause 10.0 ALB CD79A
49 macular holes 10.0
50 retinitis 10.0

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



Diseases related to Alport Syndrome

Symptoms & Phenotypes for Alport Syndrome

Symptoms by clinical synopsis from OMIM:

301050

Clinical features from OMIM:

301050

Human phenotypes related to Alport Syndrome:

56 32 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 56 32 Frequent (79-30%) HP:0012378
2 dyspnea 56 32 Frequent (79-30%) HP:0002094
3 headache 56 32 Frequent (79-30%) HP:0002315
4 photophobia 56 32 Occasional (29-5%) HP:0000613
5 vomiting 56 32 Occasional (29-5%) HP:0002013
6 dry skin 56 32 Frequent (79-30%) HP:0000958
7 periorbital edema 56 32 Frequent (79-30%) HP:0100539
8 hypertension 56 32 Frequent (79-30%) HP:0000822
9 dysphagia 56 32 Occasional (29-5%) HP:0002015
10 cataract 56 32 Frequent (79-30%) HP:0000518
11 sensorineural hearing impairment 56 32 Very frequent (99-80%) HP:0000407
12 renal insufficiency 56 32 Frequent (79-30%) HP:0000083
13 proteinuria 56 32 Frequent (79-30%) HP:0000093
14 retinopathy 56 32 Very frequent (99-80%) HP:0000488
15 subcutaneous nodule 56 32 Occasional (29-5%) HP:0001482
16 pallor 56 32 Frequent (79-30%) HP:0000980
17 weight loss 56 32 Frequent (79-30%) HP:0001824
18 corneal dystrophy 56 32 Occasional (29-5%) HP:0001131
19 thrombocytopenia 56 32 Occasional (29-5%) HP:0001873
20 nephrotic syndrome 56 32 Frequent (79-30%) HP:0000100
21 glomerulopathy 56 32 Very frequent (99-80%) HP:0100820
22 myopia 56 32 Occasional (29-5%) HP:0000545
23 hematuria 56 32 Very frequent (99-80%) HP:0000790
24 lentiglobus 56 32 Frequent (79-30%) HP:0011527
25 tinnitus 56 32 Frequent (79-30%) HP:0000360
26 neoplasm of the colon 56 32 Occasional (29-5%) HP:0100273
27 morphological abnormality of the semicircular canal 56 32 Very frequent (99-80%) HP:0011380
28 edema of the lower limbs 56 32 Frequent (79-30%) HP:0010741
29 leukopenia 56 32 Frequent (79-30%) HP:0001882
30 abdominal situs inversus 56 32 Occasional (29-5%) HP:0003363
31 diffuse leiomyomatosis 56 32 Occasional (29-5%) HP:0006756
32 macular dystrophy 56 32 Occasional (29-5%) HP:0007754
33 uterine neoplasm 56 32 Occasional (29-5%) HP:0010784
34 ichthyosis 32 HP:0008064
35 corneal erosion 32 HP:0200020
36 hypoparathyroidism 32 HP:0000829
37 stage 5 chronic kidney disease 32 HP:0003774
38 congenital cataract 32 HP:0000519
39 nephritis 32 HP:0000123
40 microscopic hematuria 32 HP:0002907
41 thickening of the glomerular basement membrane 32 HP:0004722
42 diffuse glomerular basement membrane lamellation 32 HP:0030034
43 anterior lenticonus 32 HP:0011501

MGI Mouse Phenotypes related to Alport Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 MYH9 MYO1E NID1 ACSL4 COL1A2 COL4A1
2 homeostasis/metabolism MP:0005376 10 ACSL4 ALB CD79A COL1A2 COL4A1 COL4A3
3 hematopoietic system MP:0005397 9.97 ACSL4 CD79A COL4A1 COL4A2 COL4A3 COL4A5
4 mortality/aging MP:0010768 9.9 COL4A4 COL4A5 LAMA5 MYH9 MYO1E ACSL4
5 renal/urinary system MP:0005367 9.61 ALB CD79A COL4A1 COL4A3 COL4A4 COL4A5
6 vision/eye MP:0005391 9.23 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 LAMA5

Drugs & Therapeutics for Alport Syndrome

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

(show all 36)
id 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,Phase 2
3 Antihypertensive Agents Phase 3,Phase 2
4 HIV Protease Inhibitors Phase 3,Phase 2
5
protease inhibitors Phase 3,Phase 2
6
Benazepril Approved, Investigational Phase 2 86541-75-5 5362124
7
Fluvastatin Approved Phase 2 93957-54-1 1548972
8
Valsartan Approved, Investigational Phase 2 137862-53-4 60846
9
Riboflavin Approved, Nutraceutical, Vet_approved Phase 2 83-88-5 493570
10
Angiotensin II Phase 2 68521-88-0, 11128-99-7 65143 172198
11 Angiotensin II Type 1 Receptor Blockers Phase 2
12 Angiotensin Receptor Antagonists Phase 2
13 Angiotensinogen Phase 2
14 Anticholesteremic Agents Phase 2
15 Antimetabolites Phase 2
16 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
17 Hypolipidemic Agents Phase 2
18 Lipid Regulating Agents Phase 2
19 Liver Extracts Phase 2
20 Vitamin B2 Nutraceutical Phase 2
21
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
22
Enalapril Approved, Vet_approved 75847-73-3 5362032 40466924
23
Enalaprilat Approved 76420-72-9 6917719
24
Spironolactone Approved 1952-01-7, 52-01-7 5833
25 Alkylating Agents
26 Antineoplastic Agents, Alkylating
27 Antirheumatic Agents
28 Immunosuppressive Agents
29 diuretics
30 Diuretics, Potassium Sparing
31 Hormone Antagonists
32 Hormones
33 Hormones, Hormone Substitutes, and Hormone Antagonists
34 Mineralocorticoid Receptor Antagonists
35 Mineralocorticoids
36 Natriuretic Agents

Interventional clinical trials:

(show all 18)
id Name Status NCT ID Phase
1 A Phase 2/3 Trial of the Efficacy and Safety of Bardoxolone Methyl in Patients With Alport Syndrome - CARDINAL Recruiting NCT03019185 Phase 2, Phase 3
2 Efficacy and Safety Study to Delay Renal Failure in Children With Alport Syndrome Recruiting NCT01485978 Phase 3
3 Effects of an Intensified Treatment With ACE-I,ATA II and Statins in Alport Syndrome Completed NCT00309257 Phase 2
4 Study of Weekly RG-012 Injections in Patients With Alport Syndrome Active, not recruiting NCT02855268 Phase 2
5 Aluminum and Auditory Function in ESRD Unknown status NCT00243958
6 Cyclophosphamide in Lupus Nephritis Unknown status NCT00441220
7 A Prospective Study of Microalbuminuria in Untreated Boys With Alport Syndrome Completed NCT00622544
8 Urinary Biomarkers of the Progression of Alport Kidney Disease Completed NCT01705132
9 Enalapril in Collagen Type 4 Nephropathy Completed NCT01465126
10 Hereditary Tubulointerstitial Nephritis Completed NCT01312727
11 ATHENA: Natural History of Disease Study in Alport Syndrome Patients Recruiting NCT02136862
12 Alport Syndrome Treatments and Outcomes Registry Recruiting NCT00481130
13 Biomarker for Patient With Alport Disease or Highly Suspected for Alport Disease Recruiting NCT02718027
14 European Alport Therapy Registry - European Initiative Towards Delaying Renal Failure in Alport Syndrome Recruiting NCT02378805
15 Urine, DNA and Clinical Information Collection From Patients With Alport Nephropathy. Recruiting NCT03074357
16 Genetic Causes of FSGS, Nephrotic Syndrome, or Kidney Failure Recruiting NCT02194582
17 Multi-center Controlled Clinical Trials in Alport Syndrome-A Feasibility Study Active, not recruiting NCT01696253
18 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:

id Genetic test Affiliating Genes
1 Alport Syndrome 29

Anatomical Context for Alport Syndrome

MalaCards organs/tissues related to Alport Syndrome:

39
Kidney, Eye, Testes, Skin, Smooth Muscle, Colon, Bone
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Alport Syndrome:
id Tissue Anatomical CompartmentCell Relevance
1 Kidney Podocyte Layer Podocytes Potential therapeutic candidate, affected by disease
2 Kidney Glomerular Basement Membrane Affected by disease

Publications for Alport Syndrome

Articles related to Alport Syndrome:

(show top 50) (show all 546)
id Title Authors Year
1
Alport syndrome: facts and opinions. ( 28163907 )
2017
2
Long-term treatment with EGFR inhibitor erlotinib attenuates renal inflammatory cytokines but not nephropathy in Alport syndrome mouse model. ( 28176019 )
2017
3
ANCA vasculitis in a patient with Alport syndrome: a difficult diagnosis but a treatable disease! ( 28356090 )
2017
4
Female Patient with Alport Syndrome and Concomitant Membranous Nephropathy: Susceptibility or Association of Two Diseases? ( 28245485 )
2017
5
Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis. ( 28275241 )
2017
6
Murine recombinant angiotensin-converting enzyme 2 attenuates kidney injury in experimentalA Alport syndrome. ( 28249676 )
2017
7
Outcomes of kidney transplantation in Alport syndrome compared with other forms of renal disease. ( 27917694 )
2017
8
Alport syndrome: ACE2 administration slows kidney damage. ( 28287108 )
2017
9
Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy. ( 26809805 )
2016
10
Long-term treatment by ACE inhibitors and angiotensin receptor blockers in children with Alport syndrome. ( 26248473 )
2016
11
Toric multifocal intraocular lens implantation in a case of bilateral anterior and posterior lenticonus in Alport syndrome. ( 27958211 )
2016
12
A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing. ( 26866448 )
2016
13
A Novel Mutation in a Japanese Family with X-linked Alport Syndrome. ( 27725546 )
2016
14
COL4A6 is dispensable for autosomal recessive Alport syndrome. ( 27377778 )
2016
15
Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome. ( 28013382 )
2016
16
Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing. ( 27934798 )
2016
17
Capsulorhexis tearing pattern during phacoemulsification in anterior lenticonus due to Alport syndrome. ( 26692055 )
2016
18
Prospective study on the potential of RAAS blockade to halt renal disease in Alport syndrome patients with heterozygous mutations. ( 27402170 )
2016
19
New mutation in 2 pediatric patients with Alport syndrome. Prognostic significance of genotype. ( 27743723 )
2016
20
Female X-linked Alport syndrome with somatic mosaicism. ( 27796712 )
2016
21
Alport syndrome: impact of digenic inheritance in patients management. ( 27859054 )
2016
22
Reply to: Cataract surgery in patients with Alport syndrome. ( 26951527 )
2016
23
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations. ( 27627812 )
2016
24
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome. ( 27190345 )
2016
25
Cataract surgery in patients with Alport syndrome. ( 26951528 )
2016
26
Bull's eye and pigment maculopathy are further retinal manifestations of an abnormal Bruch's membrane in Alport syndrome. ( 27485810 )
2016
27
AJKD Atlas of Renal Pathology: Alport Syndrome. ( 27664477 )
2016
28
Simultaneous adult polycystic kidney disease and Alport syndrome. ( 27436620 )
2016
29
An Overlapping Case of Alport Syndrome and Thin Basement Membrane Disease. ( 27635185 )
2016
30
RAAS inhibition and the course of Alport syndrome. ( 26995302 )
2016
31
The Transition from Thin Basement Membranes to Typical Alport Syndrome Morphology in Children. ( 27410722 )
2016
32
Alport syndrome and pregnancy: Good obstetric and nephrological outcomes in a pregnant woman with homozygous autosomal recessive Alport syndrome. ( 26628290 )
2016
33
Alport Syndrome in Women and Girls. ( 27287265 )
2016
34
Familial focal segmental glomerulosclerosis: mutation in inverted formin 2 mimicking Alport syndrome. ( 26951353 )
2016
35
Albumin contributes to kidney disease progression in Alport syndrome. ( 27147675 )
2016
36
Early RAAS Blockade Exerts Renoprotective Effects in Autosomal Recessive Alport Syndrome. ( 27904025 )
2016
37
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome. ( 27281700 )
2016
38
Podocyte Depletion in Thin GBM and Alport Syndrome. ( 27192434 )
2016
39
Human Chorionic Stem Cells: Podocyte Differentiation and Potential for the Treatment of Alport Syndrome. ( 26728561 )
2016
40
Collagen IV diseases: A focus on the glomerular basement membrane in Alport syndrome. ( 27576055 )
2016
41
Contact lens fitting in a patient with Alport syndrome and posterior polymorphous corneal dystrophy: a case report. ( 26840166 )
2016
42
Low-dose Spinal Block With Continuous Epidural Infusion for Renal Transplantation in a Patient With Alport Syndrome: A Case Report. ( 27932148 )
2016
43
Two Pregnancies with a Different Outcome in a Patient with Alport Syndrome. ( 27703570 )
2016
44
Crescentic and necrotising glomerulonephritis: a rare histological manifestation of Alport syndrome. ( 25869794 )
2015
45
Extensive preoperative workup in diffuse esophageal leiomyomatosis associated with Alport syndrome influences surgical treatment: A case report. ( 25863991 )
2015
46
X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene. ( 26581810 )
2015
47
Generation of induced pluripotent stem cells from renal tubular cells of a patient with Alport syndrome. ( 26345127 )
2015
48
Pregnancy outcomes in patients with Alport syndrome. ( 26411580 )
2015
49
Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life. ( 26201269 )
2015
50
Preclinical Alterations in the Serum of COL(IV)A3(-)/(-) Mice as Early Biomarkers of Alport Syndrome. ( 26487288 )
2015

Variations for Alport Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Alport Syndrome:

66 (show top 50) (show all 145)
id Symbol AA change Variation ID SNP ID
1 COL4A5 p.Gly54Asp VAR_001914 rs104886043
2 COL4A5 p.Gly129Glu VAR_001915 rs281874723
3 COL4A5 p.Gly129Val VAR_001916 rs281874723
4 COL4A5 p.Gly174Arg VAR_001917 rs104886055
5 COL4A5 p.Gly177Arg VAR_001918 rs104886056
6 COL4A5 p.Gly216Arg VAR_001919 rs104886067
7 COL4A5 p.Gly219Ser VAR_001920 rs104886075
8 COL4A5 p.Gly289Val VAR_001921 rs104886450
9 COL4A5 p.Gly292Val VAR_001922 rs104886078
10 COL4A5 p.Gly325Glu VAR_001923 rs104886091
11 COL4A5 p.Gly325Arg VAR_001924 rs104886088
12 COL4A5 p.Gly365Glu VAR_001925 rs104886096
13 COL4A5 p.Gly371Glu VAR_001927 rs104886097
14 COL4A5 p.Gly374Ala VAR_001928 rs104886108
15 COL4A5 p.Gly383Asp VAR_001929 rs104886105
16 COL4A5 p.Gly400Glu VAR_001930 rs104886107
17 COL4A5 p.Gly406Val VAR_001931 rs104886100
18 COL4A5 p.Gly409Asp VAR_001932 rs104886101
19 COL4A5 p.Gly466Glu VAR_001936 rs104886114
20 COL4A5 p.Gly494Asp VAR_001937 rs104886118
21 COL4A5 p.Gly521Cys VAR_001939 rs104886121
22 COL4A5 p.Gly521Ser VAR_001940 rs104886121
23 COL4A5 p.Gly567Ala VAR_001941 rs104886137
24 COL4A5 p.Gly609Val VAR_001942 rs104886140
25 COL4A5 p.Gly638Val VAR_001943 rs104886134
26 COL4A5 p.Gly638Ala VAR_001944 rs104886134
27 COL4A5 p.Gly653Arg VAR_001945 rs104886150
28 COL4A5 p.Gly684Val VAR_001947 rs104886160
29 COL4A5 p.Gly740Glu VAR_001948 rs104886165
30 COL4A5 p.Gly772Asp VAR_001949 rs104886173
31 COL4A5 p.Gly796Arg VAR_001950 rs104886177
32 COL4A5 p.Gly852Arg VAR_001951 rs104886186
33 COL4A5 p.Gly866Glu VAR_001952 rs104886188
34 COL4A5 p.Gly869Arg VAR_001953 rs104886189
35 COL4A5 p.Gly872Arg VAR_001954 rs104886190
36 COL4A5 p.Gly1104Val VAR_001956 rs104886224
37 COL4A5 p.Gly1143Asp VAR_001957 rs104886229
38 COL4A5 p.Gly1143Ser VAR_001958 rs104886228
39 COL4A5 p.Gly1182Arg VAR_001959 rs104886242
40 COL4A5 p.Gly1241Cys VAR_001960 rs104886255
41 COL4A5 p.Gly1270Ser VAR_001961 rs104886257
42 COL4A5 p.Gly1379Val VAR_001962 rs104886269
43 COL4A5 p.Arg1410Cys VAR_001963 rs104886270
44 COL4A5 p.Gly1421Trp VAR_001964 rs104886272
45 COL4A5 p.Arg1422Cys VAR_001965 rs144282156
46 COL4A5 p.Gly1451Ser VAR_001966 rs104886280
47 COL4A5 p.Ala1498Asp VAR_001967 rs104886284
48 COL4A5 p.Pro1517Thr VAR_001968 rs201220208
49 COL4A5 p.Trp1538Ser VAR_001969 rs104886293
50 COL4A5 p.Arg1563Gln VAR_001970 rs281874743

ClinVar genetic disease variations for Alport Syndrome:

6 (show top 50) (show all 622)
id Gene Variation Type Significance SNP ID Assembly Location
1 COL4A5 COL4A5, EX5-10DEL deletion Pathogenic
2 COL4A5 COL4A5, CYS108SER single nucleotide variant Pathogenic
3 COL4A5 COL4A5, 10-15-KB INS, 40-KB DEL indel Pathogenic
4 COL4A5 COL4A5, 450-KB DEL deletion Pathogenic
5 COL4A5 COL4A5, 38-KB DEL deletion Pathogenic
6 COL4A5 NM_000495.4(COL4A5): c.3428G> A (p.Gly1143Asp) single nucleotide variant Pathogenic rs104886229 GRCh37 Chromosome X, 107908791: 107908791
7 COL4A5 COL4A5, 3-PRIME AND PARTIAL 5-PRIME DELETION deletion Pathogenic
8 COL4A5 NM_000495.4(COL4A5): c.1561G> T (p.Gly521Cys) single nucleotide variant Pathogenic rs104886121 GRCh37 Chromosome X, 107840272: 107840272
9 COL4A5 NM_000495.4(COL4A5): c.974G> A (p.Gly325Glu) single nucleotide variant Pathogenic rs104886091 GRCh37 Chromosome X, 107826151: 107826151
10 COL4A5 NM_000495.4(COL4A5): c.161G> A (p.Gly54Asp) single nucleotide variant Pathogenic rs104886043 GRCh37 Chromosome X, 107802313: 107802313
11 COL4A5 NM_000495.4(COL4A5): c.4946T> G (p.Leu1649Arg) single nucleotide variant Pathogenic rs104886303 GRCh37 Chromosome X, 107938639: 107938639
12 COL4A5 NM_000495.4(COL4A5): c.5030G> A (p.Arg1677Gln) single nucleotide variant Pathogenic rs104886308 GRCh37 Chromosome X, 107939580: 107939580
13 COL4A5 NM_000495.4(COL4A5): c.81+1G> C single nucleotide variant Pathogenic rs281874765 GRCh37 Chromosome X, 107683437: 107683437
14 COL4A5 NM_000495.4(COL4A5): c.1542_1543delAG (p.Glu516Lysfs) deletion Pathogenic rs104886333 GRCh37 Chromosome X, 107840253: 107840254
15 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic GRCh38 Chromosome X, 108438186: 108440206
16 COL4A5 NM_033380.2(COL4A5): c.(?_-129378)_(81_?)del (p.?) deletion Pathogenic GRCh38 Chromosome X, 108310748: 108440206
17 COL4A5 NM_000495.3(COL4A5): c.1-?_81+?del deletion Pathogenic
18 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic GRCh38 Chromosome X, 108438186: 108440206
19 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic GRCh37 Chromosome X, 107681416: 107683436
20 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic GRCh38 Chromosome X, 108438186: 108440206
21 COL4A5 NM_000495.4(COL4A5): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104886050 GRCh37 Chromosome X, 107683356: 107683356
22 COL4A5 NP_203699.1: p.? deletion Pathogenic
23 COL4A5 NP_203699.1: p.? deletion Pathogenic
24 COL4A5 NP_203699.1: p.? deletion Pathogenic
25 COL4A5 NP_203699.1: p.? deletion Pathogenic
26 COL4A5 NP_203699.1: p.? deletion Pathogenic
27 COL4A5 NP_203699.1: p.? deletion Pathogenic
28 COL4A5 NP_203699.1: p.? deletion Pathogenic
29 COL4A5 NM_000495.3(COL4A5): c.1-?_5058+?del deletion Pathogenic
30 COL4A5 NM_000495.4(COL4A5): c.2_3delTG (p.Met1Lysfs) deletion Pathogenic rs104886376 GRCh37 Chromosome X, 107683357: 107683358
31 COL4A5 NM_000495.4(COL4A5): c.13G> T (p.Gly5Ter) single nucleotide variant Pathogenic rs104886049 GRCh37 Chromosome X, 107683368: 107683368
32 COL4A5 NM_000495.4(COL4A5): c.38_41dupTCTT (p.Leu14Phefs) duplication Pathogenic rs104886408 GRCh37 Chromosome X, 107683393: 107683396
33 COL4A5 NM_000495.4(COL4A5): c.49_50delCT (p.Leu17Glufs) deletion Pathogenic rs104886427 GRCh37 Chromosome X, 107683404: 107683405
34 COL4A5 NM_000495.4(COL4A5): c.65_77delAGCCTGCAGAGGC (p.Gln22Leufs) deletion Pathogenic rs281874760 GRCh37 Chromosome X, 107683420: 107683432
35 COL4A5 NP_203699.1: p.Ala28_Lys1082dup duplication Pathogenic
36 COL4A5 NM_000495.4(COL4A5): c.82-?_465+?del deletion Pathogenic
37 COL4A5 NM_000495.4(COL4A5): c.82-?_1165+?del deletion Pathogenic GRCh37 Chromosome X, 107782976: 107829977
38 COL4A5 NM_000495.4(COL4A5): c.82-?_3246+?del deletion Pathogenic GRCh37 Chromosome X, 107782976: 107869579
39 COL4A5 NM_000495.4(COL4A5): c.82-?_3373+?del deletion Pathogenic GRCh37 Chromosome X, 107683437: 107908736
40 COL4A5 COL4A5: c.82-?_141+?del (p.Ala28_Lys47del) deletion Pathogenic GRCh37 Chromosome X, 107683437: 107802293
41 COL4A5 NM_000495.4(COL4A5): c.87C> A (p.Cys29Ter) single nucleotide variant Pathogenic rs104886048 GRCh37 Chromosome X, 107782981: 107782981
42 COL4A5 NM_000495.4(COL4A5): c.90T> G (p.Tyr30Ter) single nucleotide variant Pathogenic rs104886047 GRCh37 Chromosome X, 107782984: 107782984
43 COL4A5 NM_000495.4(COL4A5): c.119delG (p.Cys40Serfs) deletion Pathogenic rs104886042 GRCh37 Chromosome X, 107783013: 107783013
44 COL4A5 NM_000495.4(COL4A5): c.142-1G> A single nucleotide variant Pathogenic rs104886323 GRCh37 Chromosome X, 107802293: 107802293
45 COL4A5 NM_000495.4(COL4A5): c.142-?_3373+?del deletion Pathogenic GRCh37 Chromosome X, 107783036: 107908736
46 COL4A5 NM_000495.4(COL4A5): c.142-?_2677+?del deletion Pathogenic GRCh37 Chromosome X, 107783036: 107865032
47 COL4A5 NM_000495.4(COL4A5): c.142G> A (p.Gly48Arg) single nucleotide variant Pathogenic rs281874669 GRCh37 Chromosome X, 107802294: 107802294
48 COL4A5 NP_203699.1: p.Gly51fs insertion Pathogenic
49 COL4A5 COL4A5: c.142-?_231+?del(p.Gly48_Lys77del) deletion Pathogenic GRCh37 Chromosome X, 107783036: 107807111
50 COL4A5 NM_000495.4(COL4A5): c.231+1G> A single nucleotide variant Pathogenic rs104886349 GRCh37 Chromosome X, 107802384: 107802384

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 GeneCards Suite gene sharing:

(show all 21)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 COL1A2 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
2
Show member pathways
13.39 COL1A2 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
3
Show member pathways
13.07 CD79A COL1A2 COL4A1 COL4A2 COL4A3 COL4A4
4
Show member pathways
12.91 COL1A2 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
5
Show member pathways
12.83 COL1A2 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
6
Show member pathways
12.74 COL1A2 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
7 12.69 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6
8
Show member pathways
12.67 COL1A2 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
9 12.61 COL1A2 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
10
Show member pathways
12.03 COL1A2 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
11 11.91 COL1A2 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
12
Show member pathways
11.89 ALB COL1A2 COL4A1 COL4A2
13 11.8 COL4A3 COL4A4 COL4A5 LAMA5 MYH9 MYO1E
14 11.79 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6
15 11.74 COL1A2 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
16 11.57 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6
17 11.48 COL1A2 COL4A1 COL4A2
18 11.46 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
19 11.39 COL1A2 COL4A1 COL4A2
20 11.1 COL1A2 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
21 11.01 COL1A2 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5

GO Terms for Alport Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.92 ALB COL1A2 COL4A1 COL4A2 COL4A3 COL4A4
2 proteinaceous extracellular matrix GO:0005578 9.91 COL1A2 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
3 extracellular matrix GO:0031012 9.88 COL1A2 COL4A1 COL4A2 LAMA5 MYH9 NID1
4 collagen trimer GO:0005581 9.7 COL1A2 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
5 basal lamina GO:0005605 9.67 COL4A4 COL4A5 LAMA5 NID1
6 basement membrane GO:0005604 9.56 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6
7 collagen type IV trimer GO:0005587 9.1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6
8 extracellular region GO:0005576 10.13 ALB COL1A2 COL4A1 COL4A2 COL4A3 COL4A4

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

id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.8 COL4A3 COL4A6 LAMA5 MYH9 NID1
2 glomerular basement membrane development GO:0032836 9.56 COL4A3 COL4A4 MYO1E NID1
3 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.55 COL4A1 COL4A2 COL4A3 COL4A5 COL4A6
4 cellular response to amino acid stimulus GO:0071230 9.5 COL1A2 COL4A1 COL4A6
5 collagen catabolic process GO:0030574 9.5 COL1A2 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
6 neuromuscular junction development GO:0007528 9.46 COL4A1 COL4A5
7 actin filament-based movement GO:0030048 9.43 MYH9 MYO1E
8 basement membrane organization GO:0071711 9.37 COL4A1 NID1
9 extracellular matrix organization GO:0030198 9.28 COL1A2 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.17 COL1A2 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
2 microfilament motor activity GO:0000146 9.16 MYH9 MYO1E
3 platelet-derived growth factor binding GO:0048407 8.96 COL1A2 COL4A1

Sources for Alport Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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