MCID: ALP073
MIFTS: 41

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:
49OMIM, 11diseasecard, 47Novoseek, 67UniProtKB/Swiss-Prot, 65UMLS, 45NIH Rare Diseases, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Alport Syndrome, Autosomal Recessive:

Name: Alport Syndrome, Autosomal Recessive 49 11 47 67 65
Autosomal Recessive Alport Syndrome 45 51
Alport Syndrome Autosomal Recessive 45 24
Nephropathy and Deafness 45 67
 
Alport Syndrome Recessive Type 45
Nephritis-Deafness Syndrome 67
Apsar 67

Characteristics:

Orphanet epidemiological data:

51
autosomal recessive alport syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

61
alport syndrome, autosomal recessive:
Onset and clinical course: progressive
Inheritance: heterogeneous, autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 203780
Orphanet51 88919
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C536587
UMLS via Orphanet66 C1567744
MedGen34 C1567744
MeSH36 D009394
UMLS65 C1567744

Summaries for Alport Syndrome, Autosomal Recessive

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NIH Rare Diseases:45 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 alport syndrome, and has symptoms including corneal erosion, diffuse glomerular basement membrane lamellation and anterior lenticonus. An important gene associated with Alport Syndrome, Autosomal Recessive is COL4A4 (Collagen Type IV Alpha 4), and among its related pathways are Pathways in cancer and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Affiliated tissues include eye and kidney, and related mouse phenotypes are renal/urinary system and vision/eye.

OMIM:49 Alport syndrome is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal... (203780) more...

UniProtKB/Swiss-Prot:67 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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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 12)
id Description Frequency HPO Source Accession
1 corneal erosion HP:0200020
2 diffuse glomerular basement membrane lamellation HP:0030034
3 anterior lenticonus HP:0011501
4 stage 5 chronic kidney disease HP:0003774
5 hypertension HP:0000822
6 hematuria HP:0000790
7 myopia HP:0000545
8 cataract HP:0000518
9 hearing impairment HP:0000365
10 nephritis HP:0000123
11 nephrotic syndrome HP:0000100
12 proteinuria HP:0000093

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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Anatomical Context for Alport Syndrome, Autosomal Recessive

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

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5COL4A3, COL4A4, COL4A5
2MP:00053918.2COL4A3, 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:

67 (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_008155rs121912863

Clinvar genetic disease variations for Alport Syndrome, Autosomal Recessive:

5 (show all 12)
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, ALU INS, EX6insertionPathogenic
10COL4A3COL4A3, 24-BP DEL, NT40deletionPathogenic
11NM_000091.4(COL4A3): c.687G> Asingle nucleotide variantPathogenicrs869025324GRCh37Chr 2, 228118053: 228118053
12COL4A4NM_000092.4(COL4A4): c.2320G> Csingle nucleotide variantPathogenicrs569681869GRCh38Chr 2, 227059468: 227059468

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
18.5COL4A3, COL4A4, COL4A5
2
Show member pathways
8.5COL4A3, 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
1collagen type IV trimerGO:00055878.5COL4A3, COL4A4, COL4A5

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

idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:00305748.9COL4A3, COL4A4
2extracellular matrix disassemblyGO:00226178.5COL4A3, COL4A4, COL4A5

Sources for Alport Syndrome, Autosomal Recessive

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet