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

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Alport Syndrome, Autosomal Recessive:

Name: Alport Syndrome, Autosomal Recessive 46 9 44 61
Autosomal Recessive Alport Syndrome 42 48
Alport Syndrome Autosomal Recessive 42 22
Alport Syndrome 42 61
 
Alport Syndrome Recessive Type 42
Alport Deafness-Nephropathy 42
Nephropathy and Deafness 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 203780
Orphanet48 88919
MESH via Orphanet34 C536587
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet62 C1567744

Summaries for Alport Syndrome, Autosomal Recessive

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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 based summary: Alport Syndrome, Autosomal Recessive, also known as autosomal recessive alport syndrome, is related to alport syndrome, autosomal dominant and proteinuria, 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 Protein digestion and absorption. Affiliated tissues include eye and kidney, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

OMIM:46 Alport syndrome is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal... (203780) more...

Related Diseases for Alport Syndrome, Autosomal Recessive

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Diseases in the Alport Syndrome family:

alport syndrome, autosomal recessive Alport Syndrome, Autosomal Dominant

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

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1alport syndrome, autosomal dominant30.9COL4A3, COL4A4
2proteinuria30.0COL4A3, COL4A4, COL4A5
3hematuria, benign familial29.9COL4A3, COL4A4
4alport syndrome29.9COL4A3, COL4A4, COL4A5
5glomerulonephritis29.9COL4A5, COL4A4, COL4A3
6nephritis29.9COL4A3, COL4A4, COL4A5
7leiomyomatosis10.8
8alport syndrome and thin basement membrane nephropathy10.6
9esophagitis10.5
10alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis10.4
11macular holes10.4
12retinitis10.4
13mental retardation10.3
14alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis10.3
15fechtner syndrome10.3
16kidney disease10.3
17x-linked diffuse leiomyomatosis - alport syndrome10.3
18epstein syndrome10.2
19cataract10.2
20end stage renal failure10.2
21renal fibrosis10.2
22peritonitis10.2
23leiomyomatosis, esophageal and vulval, with nephropathy10.2
24myh9 related thrombocytopenia10.2
25cerebritis10.1
26hyperprolinemia10.1
27frasier syndrome10.0
28may-hegglin anomaly10.0
29sebastian syndrome10.0
30keratitis10.0
31multiple sclerosis, disease progression, modifier of10.0
32pulmonary fibrosis10.0
33membranoproliferative glomerulonephritis10.0
34neurofibromatosis10.0
35polycystic kidney disease10.0
36nephrocalcinosis10.0
37horner's syndrome10.0
38choroiditis10.0
39smooth muscle tumor10.0
40collagen disease10.0
41craniopharyngioma10.0
42gingivitis10.0
43hemorrhagic fever with renal syndrome10.0
44herpes simplex10.0
45periodontitis10.0
46retinal detachment10.0
47ventricular septal defect10.0
48hemorrhagic fever10.0
49spontaneous coronary artery dissection10.0
50vitreoretinal degeneration10.0

Graphical network of the top 20 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 disorder 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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Drug clinical trials:

Search ClinicalTrials for Alport Syndrome, Autosomal Recessive

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 Recessive22

Anatomical Context for Alport Syndrome, Autosomal Recessive

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

31
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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0COL4A4, COL4A3
2MP:00053678.4COL4A5, COL4A4, COL4A3
3MP:00053768.2COL4A5, COL4A4, COL4A3

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:

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

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 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0COL4A3, COL4A4
28.5COL4A5, COL4A3, COL4A4
3
Show member pathways
8.5COL4A5, COL4A3, COL4A4
48.5COL4A5, COL4A4, COL4A3
58.5COL4A3, COL4A4, COL4A5
6
Show member pathways
8.5COL4A3, COL4A4, COL4A5
7
Show member pathways
8.5COL4A5, COL4A4, COL4A3
8
Show member pathways
8.5COL4A4, COL4A3, COL4A5
9
Show member pathways
8.5COL4A3, COL4A4, COL4A5
10
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
8.5COL4A3, COL4A4, COL4A5
11
Show member pathways
8.5COL4A3, COL4A4, COL4A5
128.5COL4A3, COL4A4, COL4A5
138.5COL4A4, COL4A5, COL4A3
14
Show member pathways
8.5COL4A4, COL4A5, COL4A3
158.5COL4A3, COL4A4, COL4A5
16
Show member pathways
Metalloproteases in connective tissue degradation
8.5COL4A3, COL4A4, COL4A5
17
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility59
Cytoskeleton remodeling Integrin outside in signaling59
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases59
Cell adhesion Tight junctions59
Development MAG dependent inhibition of neurite outgrowth59
8.5COL4A5, COL4A4, COL4A3
188.5COL4A5, COL4A4, COL4A3
198.5COL4A5, COL4A4, COL4A3
20
Show member pathways
8.5COL4A3, COL4A5, COL4A4
21
Show member pathways
8.5COL4A3, COL4A5, COL4A4

Compounds for genes affiliated with Alport Syndrome, Autosomal Recessive

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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:00056058.8COL4A5, COL4A4
2collagen type IVGO:00055878.5COL4A5, COL4A4, COL4A3
3extracellular regionGO:00055768.5COL4A5, COL4A4, COL4A3
4endoplasmic reticulum lumenGO:00057888.4COL4A3, COL4A4, COL4A5

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

idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:00328368.9COL4A3, COL4A4
2collagen catabolic processGO:00305748.6COL4A5, COL4A4, COL4A3
3extracellular matrix disassemblyGO:00226178.5COL4A5, COL4A4, COL4A3
4axon guidanceGO:00074118.5COL4A5, COL4A4, COL4A3
5extracellular matrix organizationGO:00301988.2COL4A5, COL4A4, COL4A3

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

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

Sources for Alport Syndrome, Autosomal Recessive

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet