MCID: ATS018
MIFTS: 44

Autosomal Recessive Alport Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Ear diseases, Fetal diseases categories
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Summaries for Autosomal Recessive Alport Syndrome

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43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Autosomal Recessive Alport Syndrome, also known as alport syndrome, autosomal recessive, is related to alport syndrome and nephritis. An important gene associated with Autosomal Recessive Alport Syndrome is COL4A4 (collagen, type IV, alpha 4), and among its related pathways are Pathways in cancer and Focal adhesion. Affiliated tissues include eye and kidney, and related mouse phenotypes are hearing/vestibular/ear and growth/size/body.

Description from OMIM:47 203780

Aliases & Classifications for Autosomal Recessive Alport Syndrome

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Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
autosomal recessive alport syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

autosomal recessive alport syndrome 43 49
alport syndrome, autosomal recessive 47 45 62
alport syndrome autosomal recessive 43 22
alport syndrome recessive type 43
nephropathy and deafness 43


External Ids:

MESH via Orphanet36 C536587
OMIM47 203780
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C1567744

Related Diseases for Autosomal Recessive Alport Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Autosomal Dominant Alport Syndrome family:

autosomal recessive alport syndrome

Diseases related to Autosomal Recessive Alport Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1alport syndrome31.3COL4A3, COL4A4
2nephritis30.3COL4A3, COL4A4
3cerebritis10.1
4hyperprolinemia10.1
5goodpasture syndrome10.0COL4A3BP, COL4A3
6autosomal dominant alport syndrome10.0COL4A3, COL4A4
7thin basement membrane nephropathy10.0COL4A4, COL4A3
8sensorineural hearing loss10.0COL4A3, COL4A4
9glomerulonephritis10.0COL4A4, COL4A3
10primary hyperoxaluria10.0COL4A3, COL4A4
11proteinuria9.9COL4A3, COL4A4

Graphical network of diseases related to Autosomal Recessive Alport Syndrome:



Diseases related to autosomal recessive alport syndrome

Symptoms for Autosomal Recessive Alport Syndrome

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47OMIM
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Symptoms by clinical synopsis from OMIM:

203780

Clinical features from OMIM:

203780

Drugs & Therapeutics for Autosomal Recessive Alport Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Autosomal Recessive Alport Syndrome

Search NIH Clinical Center for Autosomal Recessive Alport Syndrome

Genetic Tests for Autosomal Recessive Alport Syndrome

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22GTR
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Genetic tests related to Autosomal Recessive Alport Syndrome:

id Genetic test Affiliating Genes
1 Alport Syndrome, Autosomal Recessive22

Anatomical Context for Autosomal Recessive Alport Syndrome

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33MalaCards
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MalaCards organs/tissues related to Autosomal Recessive Alport Syndrome:

33
Eye, Kidney

Animal Models for Autosomal Recessive Alport Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Autosomal Recessive Alport Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0COL4A4, COL4A3
2MP:00053788.4COL4A3BP, COL4A4, COL4A3
3MP:00053768.2COL4A3BP, COL4A4, COL4A3

Publications for Autosomal Recessive Alport Syndrome

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52PubMed
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Articles related to Autosomal Recessive Alport Syndrome:

(show all 18)
idTitleAuthorsYear
1
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. (24052634)
2013
2
A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population. (23927549)
2013
3
A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family. (23297803)
2013
4
Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome. (22887978)
2012
5
Novel COL4A3 mutations in African American siblings with autosomal recessive Alport syndrome. (18436078)
2008
6
Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome. (17071739)
2007
7
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families. (16338941)
2006
8
Living related kidney transplantation in a patient with autosomal-recessive Alport syndrome. (12823249)
2003
9
Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome. (12325029)
2002
10
Autosomal recessive Alport syndrome: linkage analysis and clinical features in two families. (10193810)
1999
11
Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. (9792860)
1998
12
A model of autosomal recessive Alport syndrome in English cocker spaniel dogs. (9734596)
1998
13
Ocular manifestations of autosomal recessive Alport syndrome. (9361309)
1997
14
Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis. (7780062)
1995
15
Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution. (7783412)
1995
16
Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome. (7633417)
1995
17
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. (7987301)
1994
18
Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. (7987396)
1994

Variations for Autosomal Recessive Alport Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Autosomal Recessive Alport Syndrome:

64 (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 Autosomal Recessive Alport Syndrome:

1 (show all 11)
id Gene Name 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, 5-BP DELdeletionPathogenic
10COL4A3COL4A3, EX5, C-T, ARG-TERsingle nucleotide variantPathogenic
11COL4A3COL4A3, ALU INS, EX6insertionPathogenic

Expression for genes affiliated with Autosomal Recessive Alport Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Autosomal Recessive Alport Syndrome

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

Pathways for genes affiliated with Autosomal Recessive Alport Syndrome

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50PathCards, 30KEGG, 53QIAGEN, 38NCBI BioSystems Database, 55Reactome, 60Thomson Reuters, 51PharmGKB, 12EMD Millipore
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Pathways related to Autosomal Recessive Alport Syndrome according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0COL4A4, COL4A3
2
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
9.0COL4A3, COL4A4
3
Show member pathways
9.0COL4A4, COL4A3
49.0COL4A3, COL4A4
5
Show member pathways
9.0COL4A4, COL4A3
6
Show member pathways
9.0COL4A4, COL4A3
7
Show member pathways
9.0COL4A4, COL4A3
8
Show member pathways
9.0COL4A4, COL4A3
9
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
9.0COL4A4, COL4A3
10
Show member pathways
9.0COL4A3, COL4A4
11
Show member pathways
9.0COL4A4, COL4A3
129.0COL4A4, COL4A3
139.0COL4A4, COL4A3
149.0COL4A3, COL4A4
159.0COL4A4, COL4A3
169.0COL4A4, COL4A3
17
Show member pathways
9.0COL4A3, COL4A4
189.0COL4A4, COL4A3
199.0COL4A4, COL4A3

Compounds for genes affiliated with Autosomal Recessive Alport Syndrome

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GO Terms for genes affiliated with Autosomal Recessive Alport Syndrome

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16Gene Ontology
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Cellular components related to Autosomal Recessive Alport Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.0COL4A4, COL4A3
2collagen type IVGO:0055878.7COL4A4, COL4A3

Biological processes related to Autosomal Recessive Alport Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:0328369.1COL4A3, COL4A4
2cell proliferationGO:0082839.1COL4A3, COL4A3BP
3collagen catabolic processGO:0305749.1COL4A3, COL4A4
4extracellular matrix disassemblyGO:0226179.0COL4A4, COL4A3
5extracellular matrix organizationGO:0301988.9COL4A3, COL4A4
6axon guidanceGO:0074118.7COL4A3, COL4A4

Molecular functions related to Autosomal Recessive Alport Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.0COL4A4, COL4A3

Products for genes affiliated with Autosomal Recessive Alport Syndrome

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Sources for Autosomal Recessive Alport Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet