MCID: ATS018
MIFTS: 44

Autosomal Recessive Alport Syndrome malady

Eye diseases, Nephrological diseases, Ear diseases, Fetal diseases categories

Summaries for Autosomal Recessive Alport Syndrome

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 cerebritis. 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 Pathways in cancer. The compound arresten have been mentioned in the context of this disorder. Affiliated tissues include eye and kidney, and related mouse phenotypes are other and renal/urinary system.

Description from OMIM:46 203780

Aliases & Classifications for Autosomal Recessive Alport Syndrome

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
autosomal recessive alport syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

autosomal recessive alport syndrome 42 48
alport syndrome, autosomal recessive 46 44 60
alport syndrome autosomal recessive 42 22
alport syndrome recessive type 42
nephropathy and deafness 42


External Ids:

OMIM46 203780
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C1567744

Related Diseases for Autosomal Recessive Alport Syndrome

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

Autosomal Dominant Alport Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1alport syndrome31.2COL4A4, COL4A3
2cerebritis10.0
3autosomal dominant alport syndrome10.0COL4A3, COL4A4
4thin basement membrane nephropathy10.0COL4A3, COL4A4
5proteinuria10.0COL4A4, COL4A3
6goodpasture syndrome10.0COL4A3BP, COL4A3
7primary hyperoxaluria10.0COL4A3, COL4A4
8sensorineural 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

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46OMIM
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Clinical features from OMIM:

203780

Clinical synopsis from OMIM:

203780

Drugs & Therapeutics for Autosomal Recessive Alport Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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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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32MalaCards
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MalaCards organs/tissues related to Autosomal Recessive Alport Syndrome:

32
Eye, Kidney

Animal Models for Autosomal Recessive Alport Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Autosomal Recessive Alport Syndrome:

36
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

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Genetic Variations for Autosomal Recessive Alport Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Autosomal Recessive Alport Syndrome:

62 (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

Expression for genes affiliated with Autosomal Recessive Alport Syndrome

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Sources:
1BioGPS, 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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Sources:
53Reactome, 29KEGG, 37NCBI BioSystems Database, 51QIAGEN, 12EMD Millipore, 49PharmGKB
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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
28.8COL4A3, COL4A4, COL4A1
3
Hide members
8.8COL4A3, COL4A4, COL4A1
4
Hide members
8.8COL4A1, COL4A4, COL4A3
58.8COL4A1, COL4A4, COL4A3
6
Hide members
8.8COL4A3, COL4A4, COL4A1
7
Hide members
8.8COL4A3, COL4A4, COL4A1
8
Hide members
8.8COL4A3, COL4A4, COL4A1
9
Hide members
8.8COL4A1, COL4A4, COL4A3
10
Hide members
8.8COL4A3, COL4A4, COL4A1
11
Cell adhesion Integrin-mediated cell adhesion and migration
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8.8COL4A1, COL4A4, COL4A3
12
Hide members
8.8COL4A3, COL4A4, COL4A1
138.8COL4A1, COL4A4, COL4A3
148.8COL4A1, COL4A4, COL4A3
15
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
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8.8COL4A3, COL4A4, COL4A1
16
Hide members
8.8COL4A1, COL4A4, COL4A3
178.8COL4A3, COL4A4, COL4A1
188.8COL4A3, COL4A4, COL4A1
19
Cell adhesion ECM remodeling
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8.8COL4A1, COL4A4, COL4A3
208.8COL4A3, COL4A4, COL4A1
218.8COL4A3, COL4A4, COL4A1

Compounds for genes affiliated with Autosomal Recessive Alport Syndrome

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44Novoseek
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Compounds related to Autosomal Recessive Alport Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arresten449.3COL4A3, COL4A1

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
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:0305748.9COL4A3, COL4A4, COL4A1
3extracellular matrix disassemblyGO:0226178.8COL4A3, COL4A4, COL4A1
4axon guidanceGO:0074118.8COL4A3, COL4A4, COL4A1
5extracellular matrix organizationGO:0301988.5COL4A3, COL4A4, COL4A1

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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Sources for Autosomal Recessive Alport Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet