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:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Alport Syndrome, Autosomal Recessive:

Name: Alport Syndrome, Autosomal Recessive 50 68 12 48 66
Autosomal Recessive Alport Syndrome 46 52
Alport Syndrome Autosomal Recessive 46 25
Nephropathy and Deafness 46 68
 
Alport Syndrome Recessive Type 46
Nephritis-Deafness Syndrome 68
Apsar 68

Characteristics:

Orphanet epidemiological data:

52
autosomal recessive alport syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

62
alport syndrome, autosomal recessive:
Inheritance: autosomal recessive inheritance, heterogeneous
Onset and clinical course: progressive


Classifications:



External Ids:

OMIM50 203780
Orphanet52 ORPHA88919
ICD10 via Orphanet29 Q87.8
MESH via Orphanet38 C536587
UMLS via Orphanet67 C1567744
MedGen35 C1567744
MeSH37 D009394

Summaries for Alport Syndrome, Autosomal Recessive

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NIH Rare Diseases:46 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 lymphoplasmacytic lymphoma, and has symptoms including proteinuria, nephrotic syndrome and nephritis. An important gene associated with Alport Syndrome, Autosomal Recessive is COL4A3 (Collagen Type IV Alpha 3 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.

OMIM:50 Alport syndrome is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal... (203780) more...

UniProtKB/Swiss-Prot:68 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 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 proteinuria HP:0000093
2 nephrotic syndrome HP:0000100
3 nephritis HP:0000123
4 hearing impairment HP:0000365
5 cataract HP:0000518
6 myopia HP:0000545
7 hematuria HP:0000790
8 hypertension HP:0000822
9 stage 5 chronic kidney disease HP:0003774
10 anterior lenticonus HP:0011501
11 diffuse glomerular basement membrane lamellation HP:0030034
12 corneal erosion 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 Recessive25

Anatomical Context for Alport Syndrome, Autosomal Recessive

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

34
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:

39
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:

68 (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
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
10COL4A3NM_000091.4(COL4A3): c.40_63del24 (p.Leu14_Leu21del)deletionPathogenicrs876657397GRCh38Chr 2, 227164766: 227164789

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:00056059.4COL4A4, 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:00328369.4COL4A3, COL4A4
2collagen catabolic processGO:00305748.7COL4A3, 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet