MCID: ATS018
MIFTS: 38

Autosomal Recessive Alport Syndrome malady

Eye, Nephrological, Ear, Fetal categories

Summaries for Autosomal Recessive Alport Syndrome

Sources:
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 n syndrome. An important gene associated with Autosomal Recessive Alport Syndrome is COL4A4 (collagen, type IV, alpha 4), and among its related pathways are Non-integrin membrane-ECM interactions and Cell adhesion Endothelial cell contacts by non-junctional mechanisms. The compound arresten have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related mouse phenotypes are other and renal/urinary system.

Description from OMIM:47 203780

Aliases & Classifications for Autosomal Recessive Alport Syndrome

Sources:
43NIH Rare Diseases, 49Orphanet, 22GTR, 47OMIM, 45Novoseek, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Eye, Nephrological, Ear


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 61
alport syndrome autosomal recessive 43 22
alport syndrome recessive type 43
nephropathy and deafness 43


External Ids:

OMIM47 203780
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet62 C1567744

Related Diseases for Autosomal Recessive Alport Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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 13)
idRelated DiseaseScoreTop Affiliating Genes
1alport syndrome31.2COL4A4, COL4A3
2n syndrome10.2
3char syndrome10.2
4kid syndrome10.2
5nephritis10.2
6familial deafness10.1
7hyperprolinemia10.1
8autosomal dominant alport syndrome10.0COL4A3, COL4A4
9thin basement membrane nephropathy10.0COL4A3, COL4A4
10proteinuria10.0COL4A4, COL4A3
11goodpasture syndrome10.0COL4A3BP, COL4A3
12primary hyperoxaluria10.0COL4A3, COL4A4
13sensorineural hearing loss10.0COL4A3, COL4A4

Graphical network of diseases related to Autosomal Recessive Alport Syndrome:



Diseases related to autosomal recessive alport syndrome

Clinical Features for Autosomal Recessive Alport Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

203780

Clinical synopsis from OMIM:

203780

Drugs & Therapeutics for Autosomal Recessive Alport Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Autosomal Recessive Alport Syndrome

Drug clinical trials:

Search ClinicalTrials for Autosomal Recessive Alport Syndrome

Search NIH Clinical Center for Autosomal Recessive Alport Syndrome

Search CenterWatch for Autosomal Recessive Alport Syndrome

Genetic Tests for Autosomal Recessive Alport Syndrome

Sources:
22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Autosomal Recessive Alport Syndrome:

33
Kidney

Animal Models for Autosomal Recessive Alport Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Autosomal Recessive Alport Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.3COL4A3, COL4A1
2MP:00053678.8COL4A1, COL4A4, COL4A3
3MP:00053788.1COL4A3, COL4A4, COL4A1, COL4A3BP
4MP:00053767.9COL4A3BP, COL4A1, COL4A4, COL4A3
5MP:00107687.7COL4A3BP, COL4A1, COL4A4, COL4A3

Publications for Autosomal Recessive Alport Syndrome

Sources:
51PubMed
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Articles related to Autosomal Recessive Alport Syndrome:

(show all 24)
idTitleAuthorsYear
1
Clinical and genetic features in autosomal recessive and X-linked Alport syndrome. (24178893)
2013
2
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. (24052634)
2013
3
A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population. (23927549)
2013
4
A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family. (23297803)
2013
5
Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome. (22887978)
2012
6
Novel COL4A3 mutations in African American siblings with autosomal recessive Alport syndrome. (18436078)
2008
7
Approaches to detect the gene mutations in autosomal recessive Alport's syndrome: analysis of a family]. (18649777)
2008
8
Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome. (17071739)
2007
9
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families. (16338941)
2006
10
Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases. (14582039)
2003
11
Living related kidney transplantation in a patient with autosomal-recessive Alport syndrome. (12823249)
2003
12
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. (12028435)
2002
13
Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome. (12325029)
2002
14
Autosomal recessive Alport syndrome: linkage analysis and clinical features in two families. (10193810)
1999
15
Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. (9792860)
1998
16
Alport syndrome in RAcunion Island: phenotypic heterogeneity of the recessive-autosomal form. (9647515)
1998
17
Molecular genetic and immunohistochemical study of autosomal recessive Alport's syndrome. (10074584)
1998
18
A model of autosomal recessive Alport syndrome in English cocker spaniel dogs. (9734596)
1998
19
Ocular manifestations of autosomal recessive Alport syndrome. (9361309)
1997
20
Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis. (7780062)
1995
21
Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution. (7783412)
1995
22
Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome. (7633417)
1995
23
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. (7987301)
1994
24
Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. (7987396)
1994

Genetic Variations for Autosomal Recessive Alport Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Autosomal Recessive Alport Syndrome:

63 (show all 14)
id Symbol AA change Variation 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

Expression for genes affiliated with Autosomal Recessive Alport Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 12EMD Millipore, 52QIAGEN, 50PharmGKB, 38NCBI BioSystems Database
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Pathways related to Autosomal Recessive Alport Syndrome according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.4COL4A4, COL4A1
2
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
Hide members
8.8COL4A1, COL4A3, COL4A4
38.8COL4A4, COL4A3, COL4A1
48.8COL4A4, COL4A3, COL4A1
5
Hide members
8.8COL4A1, COL4A4, COL4A3
6
Hide members
8.8COL4A3, COL4A4, COL4A1
7
Hide members
8.8COL4A1, COL4A4, COL4A3
8
Hide members
8.8COL4A1, COL4A4, COL4A3
9
Hide members
8.8COL4A1, COL4A4, COL4A3
10
Hide members
8.8COL4A4, COL4A1, COL4A3
11
Cell adhesion Integrin-mediated cell adhesion and migration
Hide members
8.8COL4A1, COL4A4, COL4A3
12
Hide members
8.8COL4A4, COL4A3, COL4A1
13
Hide members
8.8COL4A3, COL4A4, COL4A1
148.8COL4A1, COL4A4, COL4A3
158.8COL4A1, COL4A4, COL4A3
168.8COL4A3, COL4A4, COL4A1
178.8COL4A1, COL4A4, COL4A3
188.8COL4A3, COL4A4, COL4A1
19
Cell adhesion ECM remodeling
Hide members
8.8COL4A1, COL4A4, COL4A3
208.8COL4A3, COL4A1, COL4A4
21
Hide members
8.8COL4A3, COL4A1, COL4A4

Compounds for genes affiliated with Autosomal Recessive Alport Syndrome

Sources:
45Novoseek
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Compounds related to Autosomal Recessive Alport Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arresten459.3COL4A3, COL4A1

GO Terms for genes affiliated with Autosomal Recessive Alport Syndrome

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.8COL4A3, COL4A4, COL4A1
2collagen type IVGO:0055878.7COL4A3, COL4A4, COL4A1
3endoplasmic reticulum lumenGO:0057888.5COL4A3, COL4A4, COL4A1

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

idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:0328369.2COL4A4, COL4A3
2collagen catabolic processGO:0305748.9COL4A1, COL4A4, COL4A3
3extracellular matrix disassemblyGO:0226178.8COL4A3, COL4A4, COL4A1
4axon guidanceGO:0074118.8COL4A1, COL4A4, COL4A3
5extracellular matrix organizationGO:0301988.5COL4A1, COL4A4, COL4A3

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052018.8COL4A3, COL4A4, COL4A1

Products for genes affiliated with Autosomal Recessive Alport Syndrome

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  • Proteins
  • Lysates
  • Antibodies

Sources for Autosomal Recessive Alport Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet