MCID: ALP073
MIFTS: 40

Alport Syndrome, Autosomal Recessive malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Alport Syndrome, Autosomal Recessive

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Sources:
11Disease Ontology, 12diseasecard, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Alport Syndrome, Autosomal Recessive:

Name: Alport Syndrome, Autosomal Recessive 51 69 12 49 67
Autosomal Recessive Alport Syndrome 11 47 53
Alport Syndrome Autosomal Recessive 47 26
Nephropathy and Deafness 47 69
 
Alport Syndrome Recessive Type 47
Nephritis-Deafness Syndrome 69
Apsar 69

Characteristics:

Orphanet epidemiological data:

53
autosomal recessive alport syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

63
alport syndrome, autosomal recessive:
Inheritance: autosomal recessive inheritance, heterogeneous
Onset and clinical course: progressive

Classifications:



External Ids:

OMIM51 203780
Disease Ontology11 DOID:0110033
Orphanet53 ORPHA88919
MESH via Orphanet39 C536587
UMLS via Orphanet68 C1567744
ICD10 via Orphanet30 Q87.8
MedGen36 C1567744
MeSH38 D009394

Summaries for Alport Syndrome, Autosomal Recessive

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NIH Rare Diseases:47 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. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed.  Last updated: 6/14/2016

MalaCards based summary: Alport Syndrome, Autosomal Recessive, also known as autosomal recessive alport syndrome, is related to alport syndrome and eosinophilic fasciitis, and has symptoms including proteinuria, nephrotic syndrome and nephritis. An important gene associated with Alport Syndrome, Autosomal Recessive is COL4A4 (Collagen Type IV Alpha 4 Chain), and among its related pathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and Pathways in cancer. Affiliated tissues include eye and kidney, and related mouse phenotypes are renal/urinary system and vision/eye.

Disease Ontology:11 An Alport syndrome that has material -basis in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q

OMIM:51 Alport syndrome is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal... (203780) more...

UniProtKB/Swiss-Prot:69 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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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:

idRelated DiseaseScoreTop Affiliating Genes
1alport syndrome10.1
2eosinophilic fasciitis9.6COL4A3, COL4A5
3alport syndrome, autosomal dominant9.5COL4A3, COL4A4
4corneal endothelial dystrophy 1, autosomal dominant9.2COL4A3, COL4A4
5autosomal dominant nocturnal frontal lobe epilepsy9.2COL4A3, COL4A4, COL4A5
6hematuria, benign familial9.1COL4A3, COL4A4, COL4A5
7vulvar leiomyoma9.1COL4A3, COL4A4, COL4A5
8fg syndrome 59.1COL4A3, COL4A4, COL4A5

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

Human phenotypes related to Alport Syndrome, Autosomal Recessive:

 63 (show all 12)
id Description HPO Frequency HPO Source Accession
1 proteinuria63 HP:0000093
2 nephrotic syndrome63 HP:0000100
3 nephritis63 HP:0000123
4 hearing impairment63 HP:0000365
5 cataract63 HP:0000518
6 myopia63 HP:0000545
7 hematuria63 HP:0000790
8 hypertension63 HP:0000822
9 stage 5 chronic kidney disease63 HP:0003774
10 anterior lenticonus63 HP:0011501
11 diffuse glomerular basement membrane lamellation63 HP:0030034
12 corneal erosion63 HP:0200020

Drugs & Therapeutics for Alport Syndrome, Autosomal Recessive

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Biomarker for Patient With Alport Disease or Highly Suspected for Alport DiseaseRecruitingNCT02718027

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 Recessive26

Anatomical Context for Alport Syndrome, Autosomal Recessive

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

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.2COL4A3, COL4A4, COL4A5
2MP:00053918.5COL4A3, 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:

69 (show all 14)
id Symbol AA change Variation ID SNP ID
1COL4A3p.Gly297GluVAR_011204
2COL4A3p.Gly407ArgVAR_011206
3COL4A3p.Gly640ArgVAR_011210rs200672668
4COL4A3p.Gly1207GluVAR_011212
5COL4A3p.Gly1277SerVAR_011215rs190598500
6COL4A3p.Gly1334GluVAR_011217rs375290088
7COL4A3p.Arg1661CysVAR_011219rs201697532
8COL4A3p.Gly532AspVAR_030945rs371405814
9COL4A3p.Gly739ArgVAR_030946rs375040636
10COL4A3p.Gly853ArgVAR_030947rs763726708
11COL4A3p.Gly1216ArgVAR_030950
12COL4A4p.Gly1201SerVAR_001913rs121912858
13COL4A4p.Gly1030ValVAR_008153
14COL4A4p.Pro1572LeuVAR_008155rs121912863

Clinvar genetic disease variations for Alport Syndrome, Autosomal Recessive:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1COL4A4NM_000092.4(COL4A4): c.3601G> A (p.Gly1201Ser)SNVPathogenicrs121912858GRCh37Chr 2, 227896969: 227896969
2COL4A4NM_000092.4(COL4A4): c.3713C> A (p.Ser1238Ter)SNVPathogenicrs121912859GRCh37Chr 2, 227896765: 227896765
3COL4A4NM_000092.4(COL4A4): c.4129C> T (p.Arg1377Ter)SNVPathogenicrs121912861GRCh37Chr 2, 227886851: 227886851
4COL4A4NM_000092.4(COL4A4): c.4923C> A (p.Cys1641Ter)SNVPathogenicrs121912862GRCh37Chr 2, 227872191: 227872191
5COL4A4NM_000092.4(COL4A4): c.4715C> T (p.Pro1572Leu)SNVPathogenicrs121912863GRCh37Chr 2, 227872828: 227872828
6COL4A3COL4A3, 5-BP DEL, NT4414deletionPathogenicChr na, -1: -1
7COL4A3NM_000091.4(COL4A3): c.4441C> T (p.Arg1481Ter)SNVPathogenicrs121912824GRCh37Chr 2, 228172614: 228172614
8COL4A3NM_000091.4(COL4A3): c.4571C> G (p.Ser1524Ter)SNVPathogenicrs121912825GRCh37Chr 2, 228173723: 228173723
9COL4A3COL4A3, ALU INS, EX6insertionPathogenicChr na, -1: -1
10COL4A3NM_000091.4(COL4A3): c.40_63del24 (p.Leu14_Leu21del)deletionPathogenicrs876657397GRCh38Chr 2, 227164766: 227164789
11COL4A3NM_000091.4(COL4A3): c.4981C> T (p.Arg1661Cys)SNVLikely pathogenicrs201697532GRCh37Chr 2, 228176554: 228176554
12COL4A4NM_000092.4(COL4A4): c.446G> T (p.Gly149Val)SNVLikely pathogenicrs374815903GRCh37Chr 2, 227983404: 227983404
13COL4A3NM_000091.4: c.1918G> ASNVLikely pathogenicChr na, -1: -1
14COL4A3NM_000091.4: c.2215G> ASNVLikely pathogenicChr na, -1: -1

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 18)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.5COL4A3, COL4A4, COL4A5
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
98.5COL4A3, COL4A4, COL4A5
10
Show member pathways
8.5COL4A3, 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
188.5COL4A3, 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:00056059.7COL4A4, COL4A5
2collagen type IV trimerGO:00055879.1COL4A3, COL4A4, COL4A5
3basement membraneGO:00056049.0COL4A3, COL4A4, COL4A5
4endoplasmic reticulum lumenGO:00057888.6COL4A3, COL4A4, COL4A5
5extracellular regionGO:00055768.5COL4A3, 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
2collagen catabolic processGO:00305748.6COL4A3, COL4A4, COL4A5
3extracellular matrix organizationGO:00301988.5COL4A3, 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet