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

Aliases & Descriptions for Alport Syndrome, Autosomal Recessive:

Name: Alport Syndrome, Autosomal Recessive 54 66 13 52 69
Autosomal Recessive Alport Syndrome 12 50 56 14
Alport Syndrome Autosomal Recessive 50 29
Nephropathy and Deafness 50 66
Alport Syndrome Recessive Type 50
Nephritis-Deafness Syndrome 66
Apsar 66

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive alport syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

HPO:

32
alport syndrome, autosomal recessive:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course progressive


Classifications:



External Ids:

OMIM 54 203780
Disease Ontology 12 DOID:0110033
Orphanet 56 ORPHA88919
MESH via Orphanet 43 C536587
UMLS via Orphanet 70 C1567744
ICD10 via Orphanet 34 Q87.8
MedGen 40 C1567744
MeSH 42 D009394

Summaries for Alport Syndrome, Autosomal Recessive

NIH Rare Diseases : 50 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 hypertension, hearing impairment and cataract. An important gene associated with Alport Syndrome, Autosomal Recessive is COL4A4 (Collagen Type IV Alpha 4 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include eye and kidney, and related phenotypes are homeostasis/metabolism and mortality/aging

Disease Ontology : 12 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 : 54 Alport syndrome is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal... (203780) more...

UniProtKB/Swiss-Prot : 66 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

Graphical network of the top 20 diseases related to Alport Syndrome, Autosomal Recessive:



Diseases related to Alport Syndrome, Autosomal Recessive

Symptoms & Phenotypes for Alport Syndrome, Autosomal Recessive

Symptoms by clinical synopsis from OMIM:

203780

Clinical features from OMIM:

203780

Human phenotypes related to Alport Syndrome, Autosomal Recessive:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 hearing impairment 32 HP:0000365
3 cataract 32 HP:0000518
4 proteinuria 32 HP:0000093
5 corneal erosion 32 HP:0200020
6 nephrotic syndrome 32 HP:0000100
7 myopia 32 HP:0000545
8 hematuria 32 HP:0000790
9 stage 5 chronic kidney disease 32 HP:0003774
10 nephritis 32 HP:0000123
11 thickening of the glomerular basement membrane 32 HP:0004722
12 diffuse glomerular basement membrane lamellation 32 HP:0030034
13 anterior lenticonus 32 HP:0011501

MGI Mouse Phenotypes related to Alport Syndrome, Autosomal Recessive:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 COL4A3 COL4A4 COL4A5 LCN2 LMX1B MYH9
2 mortality/aging MP:0010768 9.63 COL4A3 COL4A4 COL4A5 LCN2 LMX1B MYH9
3 renal/urinary system MP:0005367 9.43 COL4A3 COL4A4 COL4A5 LCN2 LMX1B MYH9
4 vision/eye MP:0005391 9.02 COL4A3 COL4A4 COL4A5 LMX1B MYH9

Drugs & Therapeutics for Alport Syndrome, Autosomal Recessive

Interventional clinical trials:


id Name Status NCT ID Phase
1 Biomarker for Patient With Alport Disease or Highly Suspected for Alport Disease Recruiting NCT02718027

Search NIH Clinical Center for Alport Syndrome, Autosomal Recessive

Genetic Tests for Alport Syndrome, Autosomal Recessive

Genetic tests related to Alport Syndrome, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Alport Syndrome, Autosomal Recessive 29

Anatomical Context for Alport Syndrome, Autosomal Recessive

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

39
Eye, Kidney

Publications for Alport Syndrome, Autosomal Recessive

Variations for Alport Syndrome, Autosomal Recessive

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

66 (show all 14)
id Symbol AA change Variation ID SNP ID
1 COL4A3 p.Gly297Glu VAR_011204
2 COL4A3 p.Gly407Arg VAR_011206
3 COL4A3 p.Gly640Arg VAR_011210 rs200672668
4 COL4A3 p.Gly1207Glu VAR_011212
5 COL4A3 p.Gly1277Ser VAR_011215 rs190598500
6 COL4A3 p.Gly1334Glu VAR_011217 rs375290088
7 COL4A3 p.Arg1661Cys VAR_011219 rs201697532
8 COL4A3 p.Gly532Asp VAR_030945 rs371405814
9 COL4A3 p.Gly739Arg VAR_030946 rs375040636
10 COL4A3 p.Gly853Arg VAR_030947 rs763726708
11 COL4A3 p.Gly1216Arg VAR_030950
12 COL4A4 p.Gly1201Ser VAR_001913 rs121912858
13 COL4A4 p.Gly1030Val VAR_008153
14 COL4A4 p.Pro1572Leu VAR_008155 rs121912863

ClinVar genetic disease variations for Alport Syndrome, Autosomal Recessive:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1 COL4A4 NM_000092.4(COL4A4): c.3601G> A (p.Gly1201Ser) single nucleotide variant Pathogenic rs121912858 GRCh37 Chromosome 2, 227896969: 227896969
2 COL4A4 NM_000092.4(COL4A4): c.3713C> A (p.Ser1238Ter) single nucleotide variant Pathogenic rs121912859 GRCh37 Chromosome 2, 227896765: 227896765
3 COL4A4 NM_000092.4(COL4A4): c.4129C> T (p.Arg1377Ter) single nucleotide variant Pathogenic rs121912861 GRCh37 Chromosome 2, 227886851: 227886851
4 COL4A4 NM_000092.4(COL4A4): c.4923C> A (p.Cys1641Ter) single nucleotide variant Pathogenic rs121912862 GRCh37 Chromosome 2, 227872191: 227872191
5 COL4A4 NM_000092.4(COL4A4): c.4715C> T (p.Pro1572Leu) single nucleotide variant Pathogenic rs121912863 GRCh37 Chromosome 2, 227872828: 227872828
6 COL4A3 COL4A3, 5-BP DEL, NT4414 deletion Pathogenic
7 COL4A3 NM_000091.4(COL4A3): c.4441C> T (p.Arg1481Ter) single nucleotide variant Pathogenic rs121912824 GRCh37 Chromosome 2, 228172614: 228172614
8 COL4A3 NM_000091.4(COL4A3): c.4571C> G (p.Ser1524Ter) single nucleotide variant Pathogenic rs121912825 GRCh37 Chromosome 2, 228173723: 228173723
9 COL4A3 COL4A3, ALU INS, EX6 insertion Pathogenic
10 COL4A3 NM_000091.4(COL4A3): c.40_63del24 (p.Leu14_Leu21del) deletion Pathogenic rs876657397 GRCh38 Chromosome 2, 227164766: 227164789
11 COL4A3 NM_000091.4(COL4A3): c.4981C> T (p.Arg1661Cys) single nucleotide variant Likely pathogenic rs201697532 GRCh37 Chromosome 2, 228176554: 228176554
12 COL4A4 NM_000092.4(COL4A4): c.446G> T (p.Gly149Val) single nucleotide variant Likely pathogenic rs374815903 GRCh37 Chromosome 2, 227983404: 227983404
13 COL4A3 NM_000091.4(COL4A3): c.1918G> A (p.Gly640Arg) single nucleotide variant Likely pathogenic rs200672668 GRCh38 Chromosome 2, 227273108: 227273108
14 COL4A3 NM_000091.4(COL4A3): c.2215G> A (p.Gly739Arg) single nucleotide variant Likely pathogenic rs375040636 GRCh38 Chromosome 2, 227279882: 227279882
15 COL4A3 NM_000091.4(COL4A3): c.3955G> A (p.Gly1319Arg) single nucleotide variant Pathogenic rs765661521 GRCh37 Chromosome 2, 228167826: 228167826
16 COL4A3 NM_000091.4(COL4A3): c.2371C> T (p.Arg791Ter) single nucleotide variant Likely pathogenic rs1060499654 GRCh38 Chromosome 2, 227280587: 227280587

Expression for Alport Syndrome, Autosomal Recessive

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

Pathways for Alport Syndrome, Autosomal Recessive

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

(show all 18)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.44 COL4A3 COL4A4 COL4A5 COL4A6 MYH9
2
Show member pathways
13.09 COL4A3 COL4A4 COL4A5 COL4A6 MYH9
3
Show member pathways
12.76 COL4A3 COL4A4 COL4A5 COL4A6
4
Show member pathways
12.62 COL4A3 COL4A4 COL4A5 COL4A6
5
Show member pathways
12.56 COL4A3 COL4A4 COL4A5 COL4A6
6
Show member pathways
12.48 COL4A3 COL4A4 COL4A5 COL4A6
7 12.41 COL4A3 COL4A4 COL4A5 COL4A6
8
Show member pathways
12.39 COL4A3 COL4A4 COL4A5 COL4A6 MYH9
9 12.33 COL4A3 COL4A4 COL4A5 COL4A6
10
Show member pathways
11.93 COL4A3 COL4A4 COL4A5 COL4A6
11 11.7 COL4A3 COL4A4 COL4A5 COL4A6
12 11.65 COL4A3 COL4A4 COL4A5 COL4A6
13 11.55 COL4A3 COL4A4 COL4A5 COL4A6
14 11.34 COL4A3 COL4A4 COL4A5 COL4A6
15 11.22 COL4A3 COL4A4 COL4A5
16 11.15 COL4A3 COL4A4 COL4A5 COL4A6
17 10.89 COL4A3 COL4A4 COL4A5 LMX1B MYH9
18 10.86 COL4A3 COL4A4 COL4A5 COL4A6

GO Terms for Alport Syndrome, Autosomal Recessive

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.83 COL4A3 COL4A4 COL4A5 COL4A6 LCN2
2 proteinaceous extracellular matrix GO:0005578 9.62 COL4A3 COL4A4 COL4A5 COL4A6
3 endoplasmic reticulum lumen GO:0005788 9.56 COL4A3 COL4A4 COL4A5 COL4A6
4 collagen trimer GO:0005581 9.46 COL4A3 COL4A4 COL4A5 COL4A6
5 neuromuscular junction GO:0031594 9.4 COL4A5 MYH9
6 basal lamina GO:0005605 9.37 COL4A4 COL4A5
7 basement membrane GO:0005604 9.26 COL4A3 COL4A4 COL4A5 COL4A6
8 collagen type IV trimer GO:0005587 8.92 COL4A3 COL4A4 COL4A5 COL4A6

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

id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.5 COL4A3 COL4A6 MYH9
2 extracellular matrix organization GO:0030198 9.46 COL4A3 COL4A4 COL4A5 COL4A6
3 glomerular basement membrane development GO:0032836 9.26 COL4A3 COL4A4
4 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.13 COL4A3 COL4A5 COL4A6
5 collagen catabolic process GO:0030574 8.92 COL4A3 COL4A4 COL4A5 COL4A6

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.92 COL4A3 COL4A4 COL4A5 COL4A6

Sources for Alport Syndrome, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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