MCID: ALP046
MIFTS: 75

Alport Syndrome, X-Linked

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

Aliases & Classifications for Alport Syndrome, X-Linked

MalaCards integrated aliases for Alport Syndrome, X-Linked:

Name: Alport Syndrome, X-Linked 57 53 75 55 73
Alport Syndrome 57 38 12 76 53 25 59 37 29 13 6 15 73
Hemorrhagic Hereditary Nephritis 53 25 73
X-Linked Alport Syndrome 12 59 15
Hereditary Nephritis 12 25 73
Nephropathy and Deafness, X-Linked 57 12
Congenital Hereditary Hematuria 53 25
Hemorrhagic Familial Nephritis 53 25
Ats 57 12
Hereditary Familial Congenital Hemorrhagic Nephritis 25
Hematuria-Nephropathy-Deafness Syndrome 25
Hereditary Interstitial Pyelonephritis 25
Hematuric Hereditary Nephritis 25
Hereditary Hematuria Syndrome 25
Alport Deafness-Nephropathy 59
Nephritis-Deafness Syndrome 75
Nephropathy and Deafness 75
Nephritis, Hereditary 44
Alports Syndrome 55
Syndrome, Alport 40
Apsx 75

Characteristics:

Orphanet epidemiological data:

59
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;

OMIM:

57
Miscellaneous:
progressive disorder
genetic heterogeneity
hearing loss occurs in late childhood
about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis
males mores severely affected than females
affected males show onset of hematuria in first year of life
female carriers may show intermittent hematuria
about 15% of female carriers develop renal insufficiency in the second or third decade
estimated gene carrier frequency of 1 in 5,000

Inheritance:
x-linked dominant


HPO:

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


Classifications:



Summaries for Alport Syndrome, X-Linked

NIH Rare Diseases : 53 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, X-Linked, also known as alport syndrome, is related to alport syndrome, autosomal dominant and hematuria, benign familial. An important gene associated with Alport Syndrome, X-Linked 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 Kidney, and related phenotypes are hypertension and dysphagia

OMIM : 57 Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies (review by Kashtan, 1999). Alport syndrome is a genetically heterogeneous disorder, with all forms resulting from mutations in genes encoding type IV collagen, which is a major structural component of the basement membrane. Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (203780); autosomal dominant inheritance (104200) is rare (Kashtan, 1999). See also benign familial hematuria (BFH; 141200), a phenotypically similar, but milder disorder. Alport syndrome is also a feature of 2 contiguous gene deletion syndromes involving the COL4A5 gene: Alport syndrome and diffuse leiomyomatosis (308940) and Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME; 300194). (301050)

UniProtKB/Swiss-Prot : 75 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.

Genetics Home Reference : 25 Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.

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

Wikipedia : 76 Alport syndrome is a genetic disorder affecting around 1 in 50,000 children, characterized by... more...

Related Diseases for Alport Syndrome, X-Linked

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

(show top 50) (show all 4756)
# Related Disease Score Top Affiliating Genes
1 alport syndrome, autosomal dominant 33.6 COL4A1 COL4A3 COL4A4 COL4A5 MYH9
2 hematuria, benign familial 32.1 COL4A3 COL4A4 COL4A5
3 congenital syphilis 31.7 CD79A MYH9
4 alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 31.5 ACSL4 AMMECR1
5 acute proliferative glomerulonephritis 30.7 CD79A COL4A3
6 chronic kidney failure 30.6 CD79A COL4A5 MYH9 REN
7 syphilis 29.8 CD79A MYH9
8 leiomyomatosis 29.4 COL4A3 COL4A4 COL4A5 COL4A6
9 focal segmental glomerulosclerosis 1 29.4 COL4A3 MYO1E
10 glomerulonephritis 29.4 CD79A COL4A3 COL4A4 COL4A5
11 end stage renal failure 29.3 CD79A COL4A5 MYH9
12 focal segmental glomerulosclerosis 28.4 COL4A3 COL4A4 COL4A5 MYH9 MYO1E
13 alport syndrome, autosomal recessive 28.4 COL4A3 COL4A4 COL4A5 COL4A6 LIN28A MYH9
14 kidney disease 28.3 CD79A COL4A3 COL4A4 COL4A5 MYH9 REN
15 menarche, age at, quantitative trait locus 1 12.0
16 menopause, natural, age at, quantitative trait locus 1 11.9
17 menopause, natural, age at, quantitative trait locus 2 11.9
18 menopause, natural, age at, quantitative trait locus 4 11.9
19 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 11.9
20 ear antitragus, tag at base of 11.8
21 teeth present at birth 11.8
22 menarche, age at, quantitative trait locus 2 11.8
23 menarche, age at, quantitative trait locus 3 11.8
24 pulmonary fungal infections in patients deemed at risk 11.8
25 poliomyelitis in patients with immunodeficiencies deemed at risk 11.8
26 arterial tortuosity syndrome 11.7
27 ataxia-telangiectasia 11.7
28 antithrombin iii deficiency 11.6
29 ceroid lipofuscinosis, neuronal, 1 11.6
30 andersen cardiodysrhythmic periodic paralysis 11.4
31 nijmegen breakage syndrome 11.4
32 atypical teratoid rhabdoid tumor 11.4
33 hereditary antithrombin deficiency 11.2
34 leiomyomatosis, diffuse, with alport syndrome 11.1
35 neural tube defects 11.1
36 ceroid lipofuscinosis, neuronal, 2 11.0
37 parkinson disease 10 11.0
38 neuroblastoma 11.0
39 ceroid lipofuscinosis, neuronal, 5 10.9
40 amme complex 10.9
41 ceroid lipofuscinosis, neuronal, 6 10.9
42 intermediate coronary syndrome 10.9
43 dyschondrosteosis and nephritis 10.9
44 nephropathy with pretibial epidermolysis bullosa and deafness 10.9
45 breast cancer 10.9
46 cervical cancer 10.8
47 herpes zoster 10.8
48 narcolepsy 10.8
49 depression 10.8
50 diabetes mellitus, transient neonatal, 1 10.8

Graphical network of the top 20 diseases related to Alport Syndrome, X-Linked:



Diseases related to Alport Syndrome, X-Linked

Symptoms & Phenotypes for Alport Syndrome, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension

Head And Neck Eyes:
myopia
cataracts
corneal erosions
anterior lenticonus
lens opacities
more
Head And Neck Ears:
deafness, sensorineural, especially affecting high frequencies (in about 55% of males and 45% of females)

Laboratory Abnormalities:
proteinuria
nephrotic syndrome
hematuria, gross and microscopic

Genitourinary Kidneys:
glomerulonephropathy
end-stage renal failure
thinning of the glomerular basement membrane (early in the disease)
thickening of the glomerular basement membrane (later in the disease)
splitting of the glomerular basement membrane
more

Clinical features from OMIM:

301050

Human phenotypes related to Alport Syndrome, X-Linked:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
2 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
3 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
4 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
5 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
6 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
7 retinopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000488
8 photophobia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000613
9 vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002013
10 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
11 subcutaneous nodule 59 32 occasional (7.5%) Occasional (29-5%) HP:0001482
12 dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002094
13 pallor 59 32 frequent (33%) Frequent (79-30%) HP:0000980
14 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
15 corneal dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001131
16 dry skin 59 32 frequent (33%) Frequent (79-30%) HP:0000958
17 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
18 thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001873
19 nephrotic syndrome 59 32 frequent (33%) Frequent (79-30%) HP:0000100
20 glomerulopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100820
21 hematuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000790
22 lentiglobus 59 32 frequent (33%) Frequent (79-30%) HP:0011527
23 periorbital edema 59 32 frequent (33%) Frequent (79-30%) HP:0100539
24 headache 59 32 frequent (33%) Frequent (79-30%) HP:0002315
25 tinnitus 59 32 frequent (33%) Frequent (79-30%) HP:0000360
26 neoplasm of the colon 59 32 occasional (7.5%) Occasional (29-5%) HP:0100273
27 morphological abnormality of the semicircular canal 59 32 hallmark (90%) Very frequent (99-80%) HP:0011380
28 edema of the lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0010741
29 leukopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001882
30 abdominal situs inversus 59 32 occasional (7.5%) Occasional (29-5%) HP:0003363
31 diffuse leiomyomatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006756
32 macular dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007754
33 uterine neoplasm 59 32 occasional (7.5%) 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 microscopic hematuria 32 HP:0002907
40 nephritis 32 HP:0000123
41 anterior lenticonus 32 HP:0011501
42 thickening of the glomerular basement membrane 32 HP:0004722
43 lenticonus 32 HP:0001142
44 diffuse glomerular basement membrane lamellation 32 HP:0030034

MGI Mouse Phenotypes related to Alport Syndrome, X-Linked:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.13 MYO1E NID1 REN ACSL4 COL4A1 COL4A3
2 homeostasis/metabolism MP:0005376 10.1 ACO1 ACSL4 CD79A COL4A1 COL4A3 COL4A4
3 hematopoietic system MP:0005397 10.02 ACSL4 CD79A COL4A1 COL4A3 COL4A5 LAMA5
4 mortality/aging MP:0010768 10 LAMA5 LIN28A MYH9 MYO1E REN ACO1
5 hearing/vestibular/ear MP:0005377 9.8 ACSL4 COL4A3 COL4A4 LAMA5 MYH9
6 normal MP:0002873 9.7 ACO1 ACSL4 CD79A COL4A6 LIN28A MYH9
7 renal/urinary system MP:0005367 9.61 CD79A COL4A1 COL4A3 COL4A4 COL4A5 LAMA5
8 vision/eye MP:0005391 9.23 COL4A1 COL4A3 COL4A4 COL4A5 FDXR LAMA5

Drugs & Therapeutics for Alport Syndrome, X-Linked

Drugs for Alport Syndrome, X-Linked (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 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
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
7
Benazepril Approved, Investigational Phase 2 86541-75-5 5362124
8
Fluvastatin Approved Phase 2 93957-54-1 1548972
9
Valsartan Approved, Investigational Phase 2 137862-53-4 60846
10 Angiotensin II Type 1 Receptor Blockers Phase 2
11 Angiotensin Receptor Antagonists Phase 2
12 Angiotensinogen Phase 2
13 Anticholesteremic Agents Phase 2
14 Antimetabolites Phase 2
15 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
16 Hypolipidemic Agents Phase 2
17 Lipid Regulating Agents Phase 2
18 Liver Extracts Phase 2
19
Enalapril Approved, Vet_approved 75847-73-3 5362032 40466924
20
Enalaprilat Approved 76420-72-9 6917719
21
Spironolactone Approved 1952-01-7, 52-01-7 5833
22 diuretics
23 Diuretics, Potassium Sparing
24 Hormone Antagonists
25 Hormones
26 Hormones, Hormone Substitutes, and Hormone Antagonists
27 Mineralocorticoid Receptor Antagonists
28 Mineralocorticoids
29 Natriuretic Agents

Interventional clinical trials:

(show all 16)
# 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 - CARDINAL Recruiting NCT03019185 Phase 2, Phase 3 Placebo Oral Capsule;Bardoxolone Methyl
2 Efficacy and Safety Study to Delay Renal Failure in Children With Alport Syndrome Active, not recruiting NCT01485978 Phase 3 Ramipril;placebo to ramipril;Ramipril
3 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
4 Study of RG-012 in Male Subjects With Alport Syndrome Recruiting NCT02855268 Phase 2 RG-012;Placebo
5 A Study of RG-012 in Subjects With Alport Syndrome Active, not recruiting NCT03373786 Phase 1 RG012
6 Aluminum and Auditory Function in ESRD Unknown status NCT00243958
7 Multi-center Controlled Clinical Trials in Alport Syndrome-A Feasibility Study Completed NCT01696253
8 ATHENA: Natural History of Disease Study 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 Urine, DNA and Clinical Information Collection From Patients With Alport Nephropathy. Completed NCT03074357
12 Enalapril in Collagen Type 4 Nephropathy Completed NCT01465126
13 Alport Syndrome Treatments and Outcomes Registry Recruiting NCT00481130
14 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
15 Biomarker for Patient With Alport Disease or Highly Suspected for Alport Disease Recruiting NCT02718027
16 Human Urine Sample Collection for Alport Nephropathy Biomarker Studies Terminated NCT01602835

Search NIH Clinical Center for Alport Syndrome, X-Linked

Cochrane evidence based reviews: nephritis, hereditary

Genetic Tests for Alport Syndrome, X-Linked

Genetic tests related to Alport Syndrome, X-Linked:

# Genetic test Affiliating Genes
1 Alport Syndrome 29

Anatomical Context for Alport Syndrome, X-Linked

MalaCards organs/tissues related to Alport Syndrome, X-Linked:

41
Kidney, Eye, Testes, Skin, Liver, Colon, Endothelial
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Alport Syndrome, X-Linked:
# 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, X-Linked

Articles related to Alport Syndrome, X-Linked:

(show top 50) (show all 563)
# Title Authors Year
1
Bilateral giant macular holes: A rare manifestation of Alport syndrome. ( 29873249 )
2018
2
Alport syndrome and Pierson syndrome: Diseases of the glomerular basement membrane. ( 29673759 )
2018
3
En face optical coherence tomography findings in a case of Alport syndrome. ( 28905837 )
2017
4
Bilateral Retinal Problem in a Patient With Alport Syndrome. ( 28594982 )
2017
5
Bromide supplementation exacerbated the renal dysfunction, injury and fibrosis in a mouse model of Alport syndrome. ( 28873450 )
2017
6
Renal, auricular, and ocular outcomes of Alport syndrome and their current management. ( 28864840 )
2017
7
Simultaneous Bilateral Anterior and Posterior Lenticonus in Alport Syndrome. ( 28969174 )
2017
8
Alport syndrome: facts and opinions. ( 28163907 )
2017
9
Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family. ( 28674241 )
2017
10
Spontaneous Coronary Artery Dissection: A Rare Manifestation of Alport Syndrome. ( 28884028 )
2017
11
Alport syndrome: ACE2 administration slows kidney damage. ( 28287108 )
2017
12
Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis. ( 28275241 )
2017
13
Murine recombinant angiotensin-converting enzyme 2 attenuates kidney injury in experimentalA Alport syndrome. ( 28249676 )
2017
14
A case of mild phenotype Alport syndrome caused by COL4A3 mutations. ( 28856578 )
2017
15
ANCA vasculitis in a patient with Alport syndrome: a difficult diagnosis but a treatable disease! ( 28356090 )
2017
16
Accelerated podocyte detachment and progressiveA podocyte loss from glomeruli withA ageA in Alport Syndrome. ( 28754557 )
2017
17
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. ( 28570636 )
2017
18
Long-term treatment with EGFR inhibitor erlotinib attenuates renal inflammatory cytokines but not nephropathy in Alport syndrome mouse model. ( 28176019 )
2017
19
Genetic diagnosis of polycystic kidney disease, Alport syndrome, and thalassemia minor in a large Chinese family. ( 28827396 )
2017
20
Female Patient with Alport Syndrome and Concomitant Membranous Nephropathy: Susceptibility or Association of Two Diseases? ( 28245485 )
2017
21
Outcomes of kidney transplantation in Alport syndrome compared with other forms of renal disease. ( 27917694 )
2017
22
Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome. ( 28542346 )
2017
23
AJKD Atlas of Renal Pathology: Alport Syndrome. ( 27664477 )
2016
24
Prospective study on the potential of RAAS blockade to halt renal disease in Alport syndrome patients with heterozygous mutations. ( 27402170 )
2016
25
A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing. ( 26866448 )
2016
26
Albumin contributes to kidney disease progression in Alport syndrome. ( 27147675 )
2016
27
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome. ( 27281700 )
2016
28
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
29
Capsulorhexis tearing pattern during phacoemulsification in anterior lenticonus due to Alport syndrome. ( 26692055 )
2016
30
Familial focal segmental glomerulosclerosis: mutation in inverted formin 2 mimicking Alport syndrome. ( 26951353 )
2016
31
Alport Syndrome in Women and Girls. ( 27287265 )
2016
32
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
33
Reply to: Cataract surgery in patients with Alport syndrome. ( 26951527 )
2016
34
Toric multifocal intraocular lens implantation in a case of bilateral anterior and posterior lenticonus in Alport syndrome. ( 27958211 )
2016
35
Cataract surgery in patients with Alport syndrome. ( 26951528 )
2016
36
COL4A6 is dispensable for autosomal recessive Alport syndrome. ( 27377778 )
2016
37
Podocyte Depletion in Thin GBM and Alport Syndrome. ( 27192434 )
2016
38
The Transition from Thin Basement Membranes to Typical Alport Syndrome Morphology in Children. ( 27410722 )
2016
39
Low-dose Spinal Block With Continuous Epidural Infusion for Renal Transplantation in a Patient With Alport Syndrome: A Case Report. ( 27932148 )
2016
40
New mutation in 2 pediatric patients with Alport syndrome. Prognostic significance of genotype. ( 27743723 )
2016
41
Female X-linked Alport syndrome with somatic mosaicism. ( 27796712 )
2016
42
A Novel Mutation in a Japanese Family with X-linked Alport Syndrome. ( 27725546 )
2016
43
Human Chorionic Stem Cells: Podocyte Differentiation and Potential for the Treatment of Alport Syndrome. ( 26728561 )
2016
44
Alport syndrome and pregnancy: Good obstetric and nephrological outcomes in a pregnant woman with homozygous autosomal recessive Alport syndrome. ( 26628290 )
2016
45
Simultaneous adult polycystic kidney disease and Alport syndrome. ( 27436620 )
2016
46
RAAS inhibition and the course of Alport syndrome. ( 26995302 )
2016
47
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome. ( 27190345 )
2016
48
Early RAAS Blockade Exerts Renoprotective Effects in Autosomal Recessive Alport Syndrome. ( 27904025 )
2016
49
Alport syndrome: impact of digenic inheritance in patients management. ( 27859054 )
2016
50
Collagen IV diseases: A focus on the glomerular basement membrane in Alport syndrome. ( 27576055 )
2016

Variations for Alport Syndrome, X-Linked

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

75 (show top 50) (show all 145)
# 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, X-Linked:

6
(show top 50) (show all 1696)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL4A5 COL4A5, 3-PRIME AND PARTIAL 5-PRIME DELETION deletion Pathogenic
2 COL4A5 COL4A5, EX5-10DEL deletion Pathogenic
3 COL4A5 COL4A5, CYS108SER single nucleotide variant Pathogenic
4 COL4A5 COL4A5, 10-15-KB INS, 40-KB DEL indel Pathogenic
5 COL4A5 COL4A5, 450-KB DEL deletion Pathogenic
6 COL4A5 COL4A5, 38-KB DEL deletion Pathogenic
7 COL4A5 NM_000495.4(COL4A5): c.3428G> A (p.Gly1143Asp) single nucleotide variant Pathogenic rs104886229 GRCh37 Chromosome X, 107908791: 107908791
8 COL4A5 NM_000495.4(COL4A5): c.3428G> A (p.Gly1143Asp) single nucleotide variant Pathogenic rs104886229 GRCh38 Chromosome X, 108665561: 108665561
9 COL4A5 NM_000495.4(COL4A5): c.1561G> T (p.Gly521Cys) single nucleotide variant Pathogenic rs104886121 GRCh37 Chromosome X, 107840272: 107840272
10 COL4A5 NM_000495.4(COL4A5): c.1561G> T (p.Gly521Cys) single nucleotide variant Pathogenic rs104886121 GRCh38 Chromosome X, 108597042: 108597042
11 COL4A5 NM_000495.4(COL4A5): c.974G> A (p.Gly325Glu) single nucleotide variant Pathogenic rs104886091 GRCh37 Chromosome X, 107826151: 107826151
12 COL4A5 NM_000495.4(COL4A5): c.974G> A (p.Gly325Glu) single nucleotide variant Pathogenic rs104886091 GRCh38 Chromosome X, 108582921: 108582921
13 COL4A5 NM_000495.4(COL4A5): c.161G> A (p.Gly54Asp) single nucleotide variant Pathogenic rs104886043 GRCh37 Chromosome X, 107802313: 107802313
14 COL4A5 NM_000495.4(COL4A5): c.161G> A (p.Gly54Asp) single nucleotide variant Pathogenic rs104886043 GRCh38 Chromosome X, 108559083: 108559083
15 COL4A5 NM_000495.4(COL4A5): c.4946T> G (p.Leu1649Arg) single nucleotide variant Pathogenic rs104886303 GRCh37 Chromosome X, 107938639: 107938639
16 COL4A5 NM_000495.4(COL4A5): c.4946T> G (p.Leu1649Arg) single nucleotide variant Pathogenic rs104886303 GRCh38 Chromosome X, 108695409: 108695409
17 COL4A5 NM_000495.4(COL4A5): c.5030G> A (p.Arg1677Gln) single nucleotide variant Likely pathogenic rs104886308 GRCh37 Chromosome X, 107939580: 107939580
18 COL4A5 NM_000495.4(COL4A5): c.5030G> A (p.Arg1677Gln) single nucleotide variant Likely pathogenic rs104886308 GRCh38 Chromosome X, 108696350: 108696350
19 COL4A5 NM_000495.4(COL4A5): c.119delG (p.Cys40Serfs) deletion Pathogenic rs104886042 GRCh38 Chromosome X, 108539783: 108539783
20 COL4A5 NM_000495.4(COL4A5): c.142-1G> A single nucleotide variant Pathogenic rs104886323 GRCh37 Chromosome X, 107802293: 107802293
21 COL4A5 NM_000495.4(COL4A5): c.81+1G> C single nucleotide variant Pathogenic rs281874765 GRCh37 Chromosome X, 107683437: 107683437
22 COL4A5 NM_000495.4(COL4A5): c.81+1G> C single nucleotide variant Pathogenic rs281874765 GRCh38 Chromosome X, 108440207: 108440207
23 COL4A5 NM_000495.4(COL4A5): c.1542_1543delAG (p.Glu516Lysfs) deletion Pathogenic rs104886333 GRCh37 Chromosome X, 107840253: 107840254
24 COL4A5 NM_000495.4(COL4A5): c.1542_1543delAG (p.Glu516Lysfs) deletion Pathogenic rs104886333 GRCh38 Chromosome X, 108597023: 108597024
25 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic GRCh37 Chromosome X, 107681416: 107683436
26 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic GRCh38 Chromosome X, 108438186: 108440206
27 COL4A5 NM_033380.2(COL4A5): c.(?_-129378)_(81_?)del (p.?) deletion Pathogenic GRCh38 Chromosome X, 108310748: 108440206
28 COL4A5 NM_033380.2(COL4A5): c.(?_-129378)_(81_?)del (p.?) deletion Pathogenic GRCh37 Chromosome X, 107553978: 107683436
29 COL4A5 NM_000495.3(COL4A5): c.1-?_81+?del deletion Pathogenic
30 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic GRCh37 Chromosome X, 107681416: 107683436
31 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic GRCh38 Chromosome X, 108438186: 108440206
32 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic GRCh37 Chromosome X, 107681416: 107683436
33 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic GRCh38 Chromosome X, 108438186: 108440206
34 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic GRCh37 Chromosome X, 107681416: 107683436
35 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic GRCh38 Chromosome X, 108438186: 108440206
36 COL4A5 NM_000495.4(COL4A5): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104886050 GRCh37 Chromosome X, 107683356: 107683356
37 COL4A5 NM_000495.4(COL4A5): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104886050 GRCh38 Chromosome X, 108440126: 108440126
38 COL4A5 NP_203699.1: p.? deletion Pathogenic
39 COL4A5 NP_203699.1: p.? deletion Pathogenic
40 COL4A5 NP_203699.1: p.? deletion Pathogenic
41 COL4A5 NP_203699.1: p.? deletion Pathogenic
42 COL4A5 NP_203699.1: p.? deletion Pathogenic
43 COL4A5 NP_203699.1: p.? deletion Pathogenic
44 COL4A5 NP_203699.1: p.? deletion Pathogenic
45 COL4A5 NM_000495.3(COL4A5): c.1-?_5058+?del deletion Pathogenic
46 COL4A5 NM_000495.4(COL4A5): c.2_3delTG (p.Met1Lysfs) deletion Pathogenic rs104886376 GRCh37 Chromosome X, 107683357: 107683358
47 COL4A5 NM_000495.4(COL4A5): c.2_3delTG (p.Met1Lysfs) deletion Pathogenic rs104886376 GRCh38 Chromosome X, 108440127: 108440128
48 COL4A5 NM_000495.4(COL4A5): c.13G> T (p.Gly5Ter) single nucleotide variant Pathogenic rs104886049 GRCh37 Chromosome X, 107683368: 107683368
49 COL4A5 NM_000495.4(COL4A5): c.13G> T (p.Gly5Ter) single nucleotide variant Pathogenic rs104886049 GRCh38 Chromosome X, 108440138: 108440138
50 COL4A5 NM_000495.4(COL4A5): c.41_42insTCTT (p.Leu14Phefs) insertion Pathogenic rs104886408 GRCh37 Chromosome X, 107683393: 107683396

Expression for Alport Syndrome, X-Linked

Search GEO for disease gene expression data for Alport Syndrome, X-Linked.

Pathways for Alport Syndrome, X-Linked

Pathways related to Alport Syndrome, X-Linked according to KEGG:

37
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512

Pathways related to Alport Syndrome, X-Linked according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 LAMA5
2
Show member pathways
13.28 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 LAMA5
3
Show member pathways
12.94 CD79A COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
4
Show member pathways
12.86 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 LAMA5
5
Show member pathways
12.84 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
6
Show member pathways
12.79 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 LAMA5
7 12.72 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 LAMA5
8
Show member pathways
12.69 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
9
Show member pathways
12.66 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 LAMA5
10
Show member pathways
12.53 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 MYH9
11
Show member pathways
12.06 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 LAMA5
12 11.83 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
13 11.72 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 LAMA5
14 11.6 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 LAMA5
15 11.46 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
16 11.35 COL4A1 COL4A3 COL4A4 COL4A5
17 11.32 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
18 11.3 COL4A3 COL4A4 COL4A5 LAMA5 MYH9 MYO1E
19 10.89 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 NID1

GO Terms for Alport Syndrome, X-Linked

Cellular components related to Alport Syndrome, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.97 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 LAMA5
2 endoplasmic reticulum lumen GO:0005788 9.72 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
3 collagen trimer GO:0005581 9.65 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
4 basement membrane GO:0005604 9.5 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 LAMA5
5 basal lamina GO:0005605 9.46 COL4A4 COL4A5 LAMA5 NID1
6 collagen type IV trimer GO:0005587 9.02 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6

Biological processes related to Alport Syndrome, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.77 COL4A3 COL4A6 LAMA5 MYH9 NID1
2 collagen catabolic process GO:0030574 9.65 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
3 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.46 COL4A1 COL4A3 COL4A5 COL4A6
4 neuromuscular junction development GO:0007528 9.43 COL4A1 COL4A5
5 actin filament-based movement GO:0030048 9.4 MYH9 MYO1E
6 basement membrane organization GO:0071711 9.32 COL4A1 NID1
7 glomerular basement membrane development GO:0032836 9.26 COL4A3 COL4A4 MYO1E NID1
8 extracellular matrix organization GO:0030198 9.17 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 LAMA5

Molecular functions related to Alport Syndrome, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.02 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
2 microfilament motor activity GO:0000146 8.96 MYH9 MYO1E

Sources for Alport Syndrome, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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