APSAR
MCID: ALP073
MIFTS: 43

Alport Syndrome, Autosomal Recessive (APSAR) malady

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

Aliases & Classifications for Alport Syndrome, Autosomal Recessive

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Alport Syndrome, Autosomal Recessive:

Name: Alport Syndrome, Autosomal Recessive 52 70 12 50 68
Autosomal Recessive Alport Syndrome 11 48 54 13
Alport Syndrome Autosomal Recessive 48 27
Nephropathy and Deafness 48 70
 
Alport Syndrome Recessive Type 48
Nephritis-Deafness Syndrome 70
Apsar 70

Characteristics:

Orphanet epidemiological data:

54
autosomal recessive alport syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

64
alport syndrome, autosomal recessive:
Inheritance: autosomal recessive inheritance, heterogeneous
Onset and clinical course: progressive

Classifications:



External Ids:

OMIM52 203780
Disease Ontology11 DOID:0110033
Orphanet54 ORPHA88919
MESH via Orphanet40 C536587
UMLS via Orphanet69 C1567744
ICD10 via Orphanet31 Q87.8
MedGen37 C1567744
MeSH39 D009394

Summaries for Alport Syndrome, Autosomal Recessive

About this section
NIH Rare Diseases:48 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 deafness, autosomal recessive 30 and alport syndrome, 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 NCAM1 interactions and Pathways in cancer. Affiliated tissues include eye and kidney, and related mouse phenotypes are homeostasis/metabolism and mortality/aging.

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

UniProtKB/Swiss-Prot:70 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

About this section

Graphical network of diseases related to Alport Syndrome, Autosomal Recessive:



Diseases related to alport syndrome, autosomal recessive

Symptoms & Phenotypes for Alport Syndrome, Autosomal Recessive

About this section

Symptoms by clinical synopsis from OMIM:

203780

Clinical features from OMIM:

203780

Human phenotypes related to Alport Syndrome, Autosomal Recessive:

 64 (show all 13)
id Description HPO Frequency HPO Source Accession
1 proteinuria64 HP:0000093
2 nephrotic syndrome64 HP:0000100
3 nephritis64 HP:0000123
4 hearing impairment64 HP:0000365
5 cataract64 HP:0000518
6 myopia64 HP:0000545
7 hematuria64 HP:0000790
8 hypertension64 HP:0000822
9 stage 5 chronic kidney disease64 HP:0003774
10 thickening of the glomerular basement membrane64 HP:0004722
11 anterior lenticonus64 HP:0011501
12 diffuse glomerular basement membrane lamellation64 HP:0030034
13 corneal erosion64 HP:0200020

MGI Mouse Phenotypes related to Alport Syndrome, Autosomal Recessive according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.1COL4A3, COL4A4, COL4A5, LCN2, LMX1B, MYH9
2MP:00107688.0COL4A3, COL4A4, COL4A5, LCN2, LMX1B, MYH9
3MP:00053678.0COL4A3, COL4A4, COL4A5, LCN2, LMX1B, MYH9
4MP:00053917.8COL4A3, COL4A4, COL4A5, LMX1B, MYH9

Drugs & Therapeutics for Alport Syndrome, Autosomal Recessive

About this section

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

About this section

Genetic tests related to Alport Syndrome, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Alport Syndrome, Autosomal Recessive27

Anatomical Context for Alport Syndrome, Autosomal Recessive

About this section

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

36
Eye, Kidney

Publications for Alport Syndrome, Autosomal Recessive

About this section

Variations for Alport Syndrome, Autosomal Recessive

About this section

UniProtKB/Swiss-Prot genetic disease variations for Alport Syndrome, Autosomal Recessive:

70 (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 16)
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, NT4414deletionPathogenic
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, EX6insertionPathogenic
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(COL4A3): c.1918G> A (p.Gly640Arg)SNVLikely pathogenicrs200672668GRCh38Chr 2, 227273108: 227273108
14COL4A3NM_ 000091.4(COL4A3): c.2215G> A (p.Gly739Arg)SNVLikely pathogenicrs375040636GRCh38Chr 2, 227279882: 227279882
15COL4A3NM_ 000091.4(COL4A3): c.3955G> A (p.Gly1319Arg)SNVPathogenicrs765661521GRCh37Chr 2, 228167826: 228167826
16COL4A3NM_ 000091.4(COL4A3): c.2371C> T (p.Arg791Ter)SNVLikely pathogenicrs1060499654GRCh38Chr 2, 227280587: 227280587

Expression for genes affiliated with Alport Syndrome, Autosomal Recessive

About this section
Search GEO for disease gene expression data for Alport Syndrome, Autosomal Recessive.

Pathways for genes affiliated with Alport Syndrome, Autosomal Recessive

About this section

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

(show all 18)
idSuper pathwaysScoreTop Affiliating Genes
19.2COL4A3, COL4A4, COL4A5
28.7COL4A3, COL4A4, COL4A5, COL4A6
38.7COL4A3, COL4A4, COL4A5, COL4A6
4
Show member pathways
8.7COL4A3, COL4A4, COL4A5, COL4A6
5
Show member pathways
8.7COL4A3, COL4A4, COL4A5, COL4A6
6
Show member pathways
8.7COL4A3, COL4A4, COL4A5, COL4A6
7
Show member pathways
8.7COL4A3, COL4A4, COL4A5, COL4A6
8
Show member pathways
8.7COL4A3, COL4A4, COL4A5, COL4A6
98.7COL4A3, COL4A4, COL4A5, COL4A6
108.7COL4A3, COL4A4, COL4A5, COL4A6
118.7COL4A3, COL4A4, COL4A5, COL4A6
128.7COL4A3, COL4A4, COL4A5, COL4A6
138.7COL4A3, COL4A4, COL4A5, COL4A6
148.7COL4A3, COL4A4, COL4A5, COL4A6
15
Show member pathways
7.9COL4A3, COL4A4, COL4A5, COL4A6, MYH9
16
Show member pathways
7.9COL4A3, COL4A4, COL4A5, COL4A6, MYH9
17
Show member pathways
7.9COL4A3, COL4A4, COL4A5, COL4A6, MYH9
187.8COL4A3, COL4A4, COL4A5, LMX1B, MYH9

GO Terms for genes affiliated with Alport Syndrome, Autosomal Recessive

About this section

Cellular components related to Alport Syndrome, Autosomal Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basal laminaGO:000560510.4COL4A4, COL4A5
2neuromuscular junctionGO:00315949.8COL4A5, MYH9
3basement membraneGO:00056049.5COL4A3, COL4A4, COL4A5, COL4A6
4collagen trimerGO:00055819.5COL4A3, COL4A4, COL4A5, COL4A6
5collagen type IV trimerGO:00055879.5COL4A3, COL4A4, COL4A5, COL4A6
6endoplasmic reticulum lumenGO:00057889.5COL4A3, COL4A4, COL4A5, COL4A6
7extracellular regionGO:00055768.8COL4A3, COL4A4, COL4A5, COL4A6, LCN2
8proteinaceous extracellular matrixGO:00055788.7COL4A3, COL4A4, COL4A5, COL4A6

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

idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:00328369.7COL4A3, COL4A4
2collagen-activated tyrosine kinase receptor signaling pathwayGO:00380639.7COL4A3, COL4A5, COL4A6
3cell adhesionGO:00071559.3COL4A3, COL4A6, MYH9
4collagen catabolic processGO:00305749.3COL4A3, COL4A4, COL4A5, COL4A6
5extracellular matrix organizationGO:00301988.9COL4A3, COL4A4, COL4A5, COL4A6

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052018.7COL4A3, COL4A4, COL4A5, COL4A6

Sources for Alport Syndrome, Autosomal Recessive

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet