MCID: ALP073
MIFTS: 40

Alport Syndrome, Autosomal Recessive malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Ear diseases, Fetal diseases categories

Aliases & Classifications for Alport Syndrome, Autosomal Recessive

About this section
Sources:
49OMIM, 11diseasecard, 47Novoseek, 65UMLS, 67UniProtKB/Swiss-Prot, 45NIH Rare Diseases, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Alport Syndrome, Autosomal Recessive:

Name: Alport Syndrome, Autosomal Recessive 49 11 47 65 67
Alport Syndrome Autosomal Recessive 45 24
Autosomal Recessive Alport Syndrome 45 51
Nephropathy and Deafness 45 67
 
Alport Syndrome Recessive Type 45
Nephritis-Deafness Syndrome 67
Alport Syndrome 65
Apsar 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
autosomal recessive alport syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

OMIM49 203780
Orphanet51 88919
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C536587
UMLS via Orphanet66 C1567744
MedGen34 C1567744
MeSH36 D009394

Summaries for Alport Syndrome, Autosomal Recessive

About this section
NIH Rare Diseases:45 Autosomal recessive 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 frequently develop sensorineural hearing loss in late childhood or early adolescence. the eye abnormalities seen in this condition seldom lead to vision loss. alport syndrome can have different patterns of inheritance. about 15 percent of alport syndrome cases are inherited in an autosomal recessive pattern and are caused by mutations in both copies of the col4a3 or col4a4 genes. last updated: 10/24/2011

MalaCards based summary: Alport Syndrome, Autosomal Recessive, also known as alport syndrome autosomal recessive, is related to alport syndrome, autosomal dominant and membranous nephropathy, and has symptoms including autosomal recessive inheritance, proteinuria and nephrotic syndrome. An important gene associated with Alport Syndrome, Autosomal Recessive is COL4A3 (Collagen, Type IV, Alpha 3 (Goodpasture Antigen)), and among its related pathways are Integrin cell surface interactions and Pathways in cancer. Affiliated tissues include eye and kidney, and related mouse phenotype renal/urinary system.

OMIM:49 Alport syndrome is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal... (203780) more...

UniProtKB/Swiss-Prot:67 Alport syndrome, autosomal recessive: A syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness.

Related Diseases for Alport Syndrome, Autosomal Recessive

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Graphical network of diseases related to Alport Syndrome, Autosomal Recessive:



Diseases related to alport syndrome, autosomal recessive

Symptoms for Alport Syndrome, Autosomal Recessive

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Symptoms by clinical synopsis from OMIM:

203780

Clinical features from OMIM:

203780

HPO human phenotypes related to Alport Syndrome, Autosomal Recessive:

(show all 15)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 proteinuria HP:0000093
3 nephrotic syndrome HP:0000100
4 nephritis HP:0000123
5 hearing impairment HP:0000365
6 cataract HP:0000518
7 myopia HP:0000545
8 hematuria HP:0000790
9 hypertension HP:0000822
10 heterogeneous HP:0001425
11 progressive HP:0003676
12 stage 5 chronic kidney disease HP:0003774
13 anterior lenticonus HP:0011501
14 diffuse glomerular basement membrane lamellation HP:0030034
15 corneal erosion HP:0200020

Drugs & Therapeutics for Alport Syndrome, Autosomal Recessive

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
RamiprilapprovedPhase 314187333-19-55362129
Synonyms:
(2 S ,3 aS ,6 aS )-1[( S )-N-[( S )-1-Carboxy-3-phenylpropyl] alanyl] octahydrocyclopenta [ b ]pyrrole-2-carboxylic acid, 1-ethyl ester
(2S,3aS,6aS)-1-((S)-2-((S)-1-ethoxy-1-oxo-4-phenylbutan-2-ylamino)propanoyl) octahydrocyclopenta[b]pyrrole-2-carboxylic acid
(2S,3aS,6aS)-1-((S)-N-((S)-1-Carboxy-3-phenylpropyl)alanyl)octahydrocyclopenta(b)pyrrole-2-carboxylic acid, 1-ethyl ester
(2S,3aS,6aS)-1-((S)-N-((S)-1-Ethoxycarbonyl-3-phenylpropyl)alanyl)octahydrocyclopenta(b)pyrrol-2-carbonsaeure
(2S,3aS,6aS)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]-3,3a,4,5,6,6a-hexahydro-2H-cyclopenta[b]pyrrole-2-carboxylic acid
(2S,3aS,6aS)-1-[(2S)-2-{[(1S)-1-ethoxycarbonyl-3-phenylpropyl]amino}propanoyl]octahydrocyclopenta[b]pyrrole-2-carboxylic acid
(2S,3aS,6aS)-1-[(2S)-2-{[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino}propanoyl]octahydrocyclopenta[b]pyrrole-2-carboxylic acid (non-preferred name)
(2S-(1(R*(R*)),2alpha,3abeta,6abeta))-1-(2-((1-(Ethoxycarbonyl)-3-phenylpropyl)amino)-1-oxopropyl)octahydrocyclopenta(b)pyrrole-2-carboxylic acid.
(2S-(1(R*(r*)),2alpha,3abeta,6abeta))-1-(2-((1-(ethoxycarbonyl)-3-phenylpropyl)amino)-1-oxopropyl)octahydrocyclopenta(b)pyrrole-2-carboxylic acid
(2s,3as,6as)-1((s)-n-((s)-1-carboxy-3-phenylpropyl)alanyl)octahydrocyclopenta(b)pyrrole-2-carboxylic
(2s,3as,6as)-1-((s)-2-((s)-1-ethoxy-1-oxo-4-phenylbutan-2-ylamino)propanoyl)-octahydrocyclopenta[b]p
(2s,3as,6as)-1-[(s)-2-((s)-1-ethoxycarbonyl-3-phenyl-propylamino)-propionyl]-octahydro-cyclopenta[b]
126613-39-6
87333-19-5
AC-1347
AC1NSFPR
Acovil
Almirall Brand of Ramipril
Altace
Altace (TN)
Altace (tn)
Astra Brand of Ramipril
AstraZeneca Brand of Ramipril
Aventis Brand of Ramipril
Aventis Pharma Brand of Ramipril
BIDD:GT0803
BSPBio_003347
Bio-0651
C23H32N2O5
CHEBI:289203
CHEBI:8774
CHEMBL1168
CID5362129
CPD000466386
Carasel
Cardace
D00421
D017257
DB00178
Delix
HMS2051E04
HMS2090L11
HMS2093M10
HOE 498
HOE498
Hoe-498
Hoechst Brand of Ramipril
 
Hypren
Hytren
KBio2_002504
KBio2_005072
KBio2_007640
KBio3_002849
KBioGR_001858
KBioSS_002512
LS-58199
Lostapres
MLS000759523
MLS001216547
MLS001423965
MolPort-001-736-571
Monarch Brand of Ramipril
N-(1S-carboethoxy-3-phenylpropyl)-S-alanyl-cis,endo-2-azabicyclo[3.3.0]octane-3S-carboxylic Acid
NCGC00178127-01
Naprix
Pramace
Pramace (discontinued)
Promed Brand of Ramipril
Quark
R0404_SIGMA
Ramace
Ramipril
Ramipril (USP/INN)
Ramipril [USAN:INN:BAN]
Ramiprilum
Ramiprilum [Latin]
Ramipro, Tritace, Altace, Prilace, Ramipril
S1793_Selleck
SAM001246757
SAM002699899
SMR000466386
SPECTRUM1505214
STK801937
Spectrum3_001794
Spectrum4_001269
Spectrum5_001721
Spectrum_001958
Triatec
Tritace
UNII-L35JN3I7SJ
Vesdil
Zabien
[2S,3aS,6aS]-1-[(2S)-2-[[(1S)-1-(Ethoxycarbonyl)-3-phenylpropyl]amino]-1-oxopropyl]octahydrocyclopenta[b]pyrrole-2-carboxylic acid
[2s,3as,6as]-1-[(2s)-2-[[(1s)-1-(ethoxycarbonyl)-3-phenylpropyl]amino]-1-oxopropyl]octahydrocyclopen
ramipril
2
Valsartanapproved, investigationalPhase 2260137862-53-460846
Synonyms:
(2S)-3-methyl-2-[pentanoyl-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]amino]butanoic acid
(S)-N-Valeryl-N-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]-methyl}-valine
(S)-N-valeryl-N-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]-methyl}-valine
(s)-2-(n-((2'-(1h-tetrazol-5-yl)biphenyl-4-yl)methyl)pentanamido)-3-methylbutanoic acid
137862-53-4
AC-4543
AC1L1U1M
AC1Q5QIK
Ambap137862-53-4
Aventis brand of valsartan
BIDD:GT0345
BRD-K45158365-001-02-3
BSPBio_003501
Bio-0796
C081489
C24H29N5O3
CEPA brand of valsartan
CGP 48933
CGP-48933
CHEBI:9927
CHEMBL1069
CID60846
CPD000466318
D00400
DB00177
Diovan
Diovan (TN)
Diovan, Valsartan
Esteve brand of valsartan
HMS1922L21
HMS2051L12
HMS2093K22
HSDB 7519
KBio2_002287
KBio2_004855
KBio2_007423
KBio3_003006
KBioGR_001078
KBioSS_002289
Kalpress
 
L-Valine, N-(1-oxopentyl)-N-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]- (9CI)
LS-161334
Lacer brand of valsartan
MLS000759423
MLS001424088
Miten
MolPort-002-507-854
MolPort-003-666-608
N-(1-oxopentyl)-N-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]-L-valine
N-(P-(O-1H-Tetrazol-5-ylphenyl)benzyl)-N-valeryl-L-valine
N-(p-(o-1H-Tetrazol-5-ylphenyl)benzyl)-N-valeryl-L-valine
N-Pentanoyl-N-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-L-valine
N-pentanoyl-N-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-L-valine
N-pentanoyl-N-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-L-valine
N-valeryl-N-((2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl)valine
Nisis
Nisis||
Novartis brand of valsartan
Provas
S1894_Selleck
SAM001246581
SMR000466318
SPBio_001260
SPECTRUM1505209
Sanol brand of valsartan
Schwarz brand of valsartan
Spectrum2_001120
Spectrum3_001831
Spectrum4_000749
Spectrum5_001582
Spectrum_001796
TL8000869
Tareg
UNII-80M03YXJ7I
Vals
Valsarran
Valsartan
Valsartan (JAN/USAN/INN)
Valsartan [USAN:INN]
valsartan
walsartan
|Tareg
3
FluvastatinapprovedPhase 25893957-54-11548972
Synonyms:
(+)-(3R,5S)-fluvastatin
(-)-(3S,5R)-fluvastatin
(3R,5R,6E)-7-[3-(4-fluorophenyl)-1-(propan-2-yl)-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5R,6E)-7-[3-(4-fluorophenyl)-1-isopropyl-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5S)-7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5S,6E)-7-[3-(4-fluorophenyl)-1-(1-methylethyl)-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5S,6E)-7-[3-(4-fluorophenyl)-1-(propan-2-yl)-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5S,6E)-7-[3-(4-fluorophenyl)-1-isopropyl-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5S,6E)-rel-7-[3-(4-Fluorophenyl)-1-(1-methylethyl)-1H-indol-2-yl]-3,5-dihydroxy-6-heptenoic acid
(3S,5R,6E)-7-[3-(4-fluorophenyl)-1-(propan-2-yl)-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3S,5R,6E)-7-[3-(4-fluorophenyl)-1-isopropyl-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(6E)-7-[3-(4-fluorophenyl)-1-(propan-2-yl)-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(6E)-7-[3-(4-fluorophenyl)-1-isopropyl-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(E)-7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(E,3R,5S)-7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(E,3S,5R)-7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(Z,3R,5S)-7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
7-(3-(4-fluorophenyl)-1-(1-methylethyl)-1H-indol-2-yl)-3,5-dihydroxy-6-heptenoate
7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
93957-54-1
AC1L1FUW
AC1L3TXK
AC1L9J7I
AC1LU7LJ
AC1NS4EB
AC1OC9O5
AC1Q1PZO
BIDD:GT0839
BPBio1_000965
BRD-K03602135-236-02-1
BSPBio_000877
C07014
C24H26FNO4
CHEBI:38562
CHEBI:38565
CHEBI:38567
CHEBI:5136
CHEMBL1078
CHEMBL170417
CID10501876
CID146801
CID1548972
CID3403
 
CID446155
CID5353627
CID6914285
CID9887837
CPD001453708
Canef
Cranoc
D07983
DB01095
Fluindostatin
Fluvas
Fluvas (TN)
Fluvastatin
Fluvastatin & Primycin
Fluvastatin (INN)
Fluvastatin Sodium
Fluvastatin [INN:BAN]
Fluvastatina
Fluvastatina [INN-Spanish]
Fluvastatine
Fluvastatine [INN-French]
Fluvastatinum
Fluvastatinum [INN-Latin]
HMS2089P06
I06-2297
LS-7404
Lescol
Lescol XL
Lescol Xl
MolPort-003-847-470
Prestwick0_000859
Prestwick1_000859
Prestwick2_000859
Prestwick3_000859
SAM002548940
SPBio_002798
T6624179
TL8005940
UNII-4L066368AS
XU 62320
XU-62320
fluvastatin
fluvastatin sodium
nchembio.301-comp9
nchembio790-comp18
4
Benazeprilapproved, investigationalPhase 24586541-75-55362124
Synonyms:
2-[(3S)-3-[[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino]-2-oxo-4,5-dihydro-3H-1-benzazepin-1-yl]acetic acid
86541-75-5
AC1NSFPL
BIDD:GT0800
BRD-K49807096-003-02-3
BSPBio_003487
Benazepril
Benazepril (INN)
Benazepril HCl
Benazepril Hydrochloride
Benazepril Sandoz
Benazepril Sandoz (TN)
Benazepril [INN:BAN]
Benazeprilum
Benazeprilum [Latin]
Briem
C06843
CGS-14824-A
CHEBI:3011
CHEMBL838
CID5362124
Cibacen
Cibacene
D07499
DB00542
 
Forteekor [veterinary]
Forteekor [veterinary] (TN)
KBio2_002457
KBio2_005025
KBio2_007593
KBio3_002707
KBioGR_000812
KBioSS_002464
LS-27973
Lotensin
NCGC00165740-01
NCGC00165740-02
SPBio_000343
STK627447
Spectrum2_000482
Spectrum3_001674
Spectrum4_000286
Spectrum5_001546
Spectrum_001922
UNII-UDM7Q7QWP8
[(3S)-3-({(1S)-1-[(ethyloxy)carbonyl]-3-phenylpropyl}amino)-2-oxo-2,3,4,5-tetrahydro-1H-1-benzazepin-1-yl]acetic acid
[(3S)-3-{[(1S)-1-(ethoxycarbonyl)-3-phenylpropyl]amino}-2-oxo-2,3,4,5-tetrahydro-1H-1-benzazepin-1-yl]acetic acid
[(3S)-3-{[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino}-2-oxo-2,3,4,5-tetrahydro-1H-1-benzazepin-1-yl]acetic acid
benazapril
benazepril
benzazepril
5
Angiotensin IIPhase 298568521-88-0, 11128-99-7172198
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
6
Spironolactoneapproved1571952-01-7, 52-01-75833
Synonyms:
4-18-00-01601 (Beilstein Handbook Reference)
4-Pregnen-21-oic acid-17alpha-ol-3-one-7alpha-thiol gamma-lactone 7-acetate
496916-40-6
52-01-7
7-alpha-Acetylthio-3-oxo-17-alpha-pregn-4-ene-21,17-beta-carbolactone
7alpha-(acetylsulfanyl)-3-oxo-17alpha-pregn-4-ene-21,17-carbolactone
AB00513806
AC-4214
AC1L1L8Q
Abbolactone
Acelat
Aldace
Aldactazide
Aldactide
Aldactone
Aldactone (TN)
Aldactone A
Alderon
Aldopur
Almatol
Alphapharm Brand of Spironolactone
Alpharma Brand of Spironolactone
Alter Brand of Spironolactone
Altex
Aquareduct
Ashbourne Brand of Spironolactone
Azupharma Brand of Spironolactone
BIDD:PXR0071
BPBio1_000194
BRD-K90027355-001-03-4
BRN 0057767
BSPBio_000176
C07310
C24H32O4S
CHEBI:428201
CHEBI:45692
CHEBI:9241
CHEMBL1393
CID5833
CPD000471892
Cardel Brand of Spironolactone
D00443
D013148
DB00421
Deverol
Dexo Brand of Spironolactone
Diatensec
Dira
Duraspiron
EINECS 200-133-6
Espironolactona
Espironolactona Alter
Espironolactona Mundogen
Espironolactona [INN-Spanish]
Euteberol
Flumach
Frumikal
Generosan Brand of Spironolactone
HMS1568I18
HMS2090N21
HSDB 3184
Hormosan Brand of Spironolactone
I06-1970
Jenapharm Brand of Spironolactone
Jenaspiron
LS-118614
LT00772287
Lacalmin
Lacdene
Laractone
MLS001074672
MLS001333253
MLS001333254
MLS002153245
MLS002207058
Mayoly-Spindler Brand of Spironolactone
Melarcon
Merck dura Brand of Spironolactone
Mundogen Brand of Spironolactone
NCGC00164397-01
 
NCGC00164397-02
NSC 150399
NSC150399
Nefurofan
Novo Spiroton
Novo-Spiroton
NovoSpiroton
Novopharm Brand of Spironolactone
Osyrol
Pfizer Brand of Spironolactone
Pharmafrid Brand of Spironolactone
Practon
Prestwick0_000128
Prestwick1_000128
Prestwick2_000128
Prestwick3_000128
Roche Brand of Spironolactone
S0260
S3378_SIGMA
SAM002264648
SC 9420
SC-9420
SC9420
SMR000471892
SNL
SPBio_002115
Sagisal
Searle Brand of Spironolactone
Sincomen
Spiractin
Spiresis
Spiretic
Spiridon
Spiro L.U.T.
Spiro(17H-cyclopenta(a)phenauthrene-17,2'-(3'H)-furan)
Spiro-Tablinen
Spiro[17H-cyclopenta[a]phenauthrene-17,2'-(3'H)-furan]
Spirobeta
Spiroctan
Spiroctanie
Spiroderm
Spirogamma
Spirolactone
Spirolakton
Spirolang
Spirolone
Spirone
Spirono Isis
Spirono-Isis
Spironocompren
Spironolactone
Spironolactone (JP15/USP/INN)
Spironolactone A
Spironolactone [BAN:INN:JAN]
Spironolactone [INN:BAN:JAN]
Spironolactonum
Spironolactonum [INN-Latin]
Spironolattone
Spironolattone [DCIT]
Spironone
Spirospare
Sprioderm
Supra-puren
Suracton
UNII-27O7W4T232
Uractone
Urusonin
Veroshpiron
Verospiron
Verospirone
Verospirone Opianin
WLN: L E5 B666 FX OV MUTJ A1 E1 KSV1 F-& CT5VOXTJ
Worwag Brand of Spironolactone
Xenalon
ZINC03861599
betapharm Brand of Spironolactone
ct Arzneimittel Brand of Spironolactone
ct-Arzneimittel Brand of Spironolactone
spiro von ct
spironolactone
spironolattone
von ct, spiro
7Mineralocorticoids294

Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy and Safety Study to Delay Renal Failure in Children With Alport SyndromeRecruitingNCT01485978Phase 3
2Effects of an Intensified Treatment With ACE-I,ATA II and Statins in Alport SyndromeCompletedNCT00309257Phase 2
3A Prospective Study of Microalbuminuria in Untreated Boys With Alport SyndromeCompletedNCT00622544
4Urinary Biomarkers of the Progression of Alport Kidney DiseaseCompletedNCT01705132
5ATHENA: Natural History of Disease Study in Alport Syndrome PatientsRecruitingNCT02136862
6Alport Syndrome Treatments and Outcomes RegistryRecruitingNCT00481130
7European Alport Therapy Registry - European Initiative Towards Delaying Renal Failure in Alport SyndromeRecruitingNCT02378805
8Aluminum and Auditory Function in ESRDRecruitingNCT00243958
9Multi-center Controlled Clinical Trials in Alport Syndrome-A Feasibility StudyActive, not recruitingNCT01696253
10Human Urine Sample Collection for Alport Nephropathy Biomarker StudiesTerminatedNCT01602835

Search NIH Clinical Center for Alport Syndrome, Autosomal Recessive

Genetic Tests for Alport Syndrome, Autosomal Recessive

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Genetic tests related to Alport Syndrome, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Alport Syndrome, Autosomal Recessive24

Anatomical Context for Alport Syndrome, Autosomal Recessive

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MalaCards organs/tissues related to Alport Syndrome, Autosomal Recessive:

33
Eye, Kidney

Animal Models for Alport Syndrome, Autosomal Recessive or affiliated genes

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MGI Mouse Phenotypes related to Alport Syndrome, Autosomal Recessive:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5COL4A3, COL4A4, COL4A5

Publications for Alport Syndrome, Autosomal Recessive

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Variations for Alport Syndrome, Autosomal Recessive

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

67 (show all 14)
id Symbol AA change Variation ID SNP ID
1COL4A3p.Gly297GluVAR_011204
2COL4A3p.Gly407ArgVAR_011206
3COL4A3p.Gly640ArgVAR_011210
4COL4A3p.Gly1207GluVAR_011212
5COL4A3p.Gly1277SerVAR_011215rs190598500
6COL4A3p.Gly1334GluVAR_011217
7COL4A3p.Arg1661CysVAR_011219
8COL4A3p.Gly532AspVAR_030945
9COL4A3p.Gly739ArgVAR_030946
10COL4A3p.Gly853ArgVAR_030947
11COL4A3p.Gly1216ArgVAR_030950
12COL4A4p.Gly1201SerVAR_001913
13COL4A4p.Gly1030ValVAR_008153
14COL4A4p.Pro1572LeuVAR_008155

Clinvar genetic disease variations for Alport Syndrome, Autosomal Recessive:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL4A4NM_000092.4(COL4A4): c.3601G> A (p.Gly1201Ser)single nucleotide variantPathogenicrs121912858GRCh37Chr 2, 227896969: 227896969
2COL4A4NM_000092.4(COL4A4): c.3713C> A (p.Ser1238Ter)single nucleotide variantPathogenicrs121912859GRCh37Chr 2, 227896765: 227896765
3COL4A4NM_000092.4(COL4A4): c.4129C> T (p.Arg1377Ter)single nucleotide variantPathogenicrs121912861GRCh37Chr 2, 227886851: 227886851
4COL4A4NM_000092.4(COL4A4): c.4923C> A (p.Cys1641Ter)single nucleotide variantPathogenicrs121912862GRCh37Chr 2, 227872191: 227872191
5COL4A4NM_000092.4(COL4A4): c.4715C> T (p.Pro1572Leu)single nucleotide variantPathogenicrs121912863GRCh37Chr 2, 227872828: 227872828
6COL4A3COL4A3, 5-BP DEL, NT4414deletionPathogenic
7NM_000091.4(COL4A3): c.4441C> T (p.Arg1481Ter)single nucleotide variantPathogenicrs121912824GRCh37Chr 2, 228172614: 228172614
8NM_000091.4(COL4A3): c.4571C> G (p.Ser1524Ter)single nucleotide variantPathogenicrs121912825GRCh37Chr 2, 228173723: 228173723
9COL4A3COL4A3, ALU INS, EX6insertionPathogenic
10COL4A3COL4A3, 24-BP DEL, NT40deletionPathogenic

Expression for genes affiliated with Alport Syndrome, Autosomal Recessive

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Search GEO for disease gene expression data for Alport Syndrome, Autosomal Recessive.

Pathways for genes affiliated with Alport Syndrome, Autosomal Recessive

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Pathways related to Alport Syndrome, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0COL4A3, COL4A4
28.5COL4A3, COL4A4, COL4A5
3
Show member pathways
8.5COL4A3, COL4A4, COL4A5
4
Show member pathways
8.5COL4A3, COL4A4, COL4A5
5
Show member pathways
8.5COL4A3, COL4A4, COL4A5
6
Show member pathways
8.5COL4A3, COL4A4, COL4A5
7
Show member pathways
8.5COL4A3, COL4A4, COL4A5
8
Show member pathways
8.5COL4A3, COL4A4, COL4A5
9
Show member pathways
8.5COL4A3, COL4A4, COL4A5
108.5COL4A3, COL4A4, COL4A5
118.5COL4A3, COL4A4, COL4A5
128.5COL4A3, COL4A4, COL4A5
138.5COL4A3, COL4A4, COL4A5
148.5COL4A3, COL4A4, COL4A5
158.5COL4A3, COL4A4, COL4A5
168.5COL4A3, COL4A4, COL4A5
178.5COL4A3, COL4A4, COL4A5

GO Terms for genes affiliated with Alport Syndrome, Autosomal Recessive

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

idNameGO IDScoreTop Affiliating Genes
1basal laminaGO:00056059.8COL4A4, COL4A5
2collagen trimerGO:00055818.6COL4A3, COL4A4, COL4A5
3collagen type IV trimerGO:00055878.5COL4A3, COL4A4, COL4A5
4extracellular regionGO:00055768.5COL4A3, COL4A4, COL4A5
5basement membraneGO:00056048.4COL4A3, COL4A4, COL4A5
6endoplasmic reticulum lumenGO:00057888.2COL4A3, COL4A4, COL4A5

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

idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:00328369.5COL4A3, COL4A4
2extracellular matrix disassemblyGO:00226178.6COL4A3, COL4A4, COL4A5
3extracellular matrix organizationGO:00301988.5COL4A3, COL4A4, COL4A5
4collagen catabolic processGO:00305748.4COL4A3, COL4A4, COL4A5
5axon guidanceGO:00074118.2COL4A3, COL4A4, COL4A5

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052018.5COL4A3, COL4A4, COL4A5

Sources for Alport Syndrome, Autosomal Recessive

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet