APSAD
MCID: ALP104
MIFTS: 40

Alport Syndrome 3, Autosomal Dominant (APSAD)

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

Aliases & Classifications for Alport Syndrome 3, Autosomal Dominant

MalaCards integrated aliases for Alport Syndrome 3, Autosomal Dominant:

Name: Alport Syndrome 3, Autosomal Dominant 58 6
Alport Syndrome, Autosomal Dominant 76 30 13 56
Syndrome, Alport, Autosomal Dominant 41
Autosomal Dominant Alport Syndrome 60
Nephritis-Deafness Syndrome 76
Nephropathy and Deafness 76
Apsad 76
Ats3 58

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant alport syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
hearing loss is variable


HPO:

33
alport syndrome 3, autosomal dominant:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 104200
MeSH 45 D009394
MESH via Orphanet 46 C536586
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C1567743 C2931253
Orphanet 60 ORPHA88918
MedGen 43 C1567743

Summaries for Alport Syndrome 3, Autosomal Dominant

OMIM : 58 Alport syndrome classically comprises nephritis, often progressing to renal failure, and sensorineural hearing loss (Alport, 1927). For a general phenotypic description of Alport syndrome, see the X-linked dominant form (ATS1; 301050). Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (ATS2; 203780); autosomal dominant inheritance is rare (van der Loop et al., 2000). Also see benign familial hematuria (BFH; 141200), a similar but milder disorder also caused by mutation in the COL4A3 gene. (104200)

MalaCards based summary : Alport Syndrome 3, Autosomal Dominant, also known as alport syndrome, autosomal dominant, is related to autosomal dominant alport syndrome and alport syndrome 1, x-linked. An important gene associated with Alport Syndrome 3, Autosomal Dominant is COL4A3 (Collagen Type IV Alpha 3 Chain), and among its related pathways/superpathways are Circadian entrainment and PI3K-Akt signaling pathway. Affiliated tissues include eye and kidney, and related phenotypes are hypertension and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 76 Alport syndrome, autosomal dominant: 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 3, Autosomal Dominant

Graphical network of the top 20 diseases related to Alport Syndrome 3, Autosomal Dominant:



Diseases related to Alport Syndrome 3, Autosomal Dominant

Symptoms & Phenotypes for Alport Syndrome 3, Autosomal Dominant

Human phenotypes related to Alport Syndrome 3, Autosomal Dominant:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 HP:0000822
2 sensorineural hearing impairment 33 HP:0000407
3 renal insufficiency 33 HP:0000083
4 proteinuria 33 HP:0000093
5 hypophosphatemia 33 HP:0002148
6 myopia 33 HP:0000545
7 nephrotic syndrome 33 HP:0000100
8 hematuria 33 HP:0000790
9 nephrocalcinosis 33 HP:0000121
10 stage 5 chronic kidney disease 33 HP:0003774
11 glomerulonephritis 33 HP:0000099
12 azotemia 33 HP:0002157
13 anterior polar cataract 33 HP:0001134
14 thickening of the glomerular basement membrane 33 HP:0004722
15 lenticonus 33 HP:0001142
16 diffuse glomerular basement membrane lamellation 33 HP:0030034

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
hypertension

Laboratory Abnormalities:
proteinuria
hematuria, gross and microscopic

Genitourinary Kidneys:
proteinuria
glomerulonephropathy
hematuria, gross and microscopic
end-stage renal failure
thinning of the glomerular basement membrane (early in the disease)
more
Head And Neck Ears:
deafness, sensorineural, especially affecting high frequencies

Clinical features from OMIM:

104200

Drugs & Therapeutics for Alport Syndrome 3, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Alport Syndrome 3, Autosomal Dominant

Genetic Tests for Alport Syndrome 3, Autosomal Dominant

Genetic tests related to Alport Syndrome 3, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Alport Syndrome, Autosomal Dominant 30 COL4A3

Anatomical Context for Alport Syndrome 3, Autosomal Dominant

MalaCards organs/tissues related to Alport Syndrome 3, Autosomal Dominant:

42
Eye, Kidney

Publications for Alport Syndrome 3, Autosomal Dominant

Articles related to Alport Syndrome 3, Autosomal Dominant:

(show all 18)
# Title Authors Year
1
Should We Diagnose Autosomal Dominant Alport Syndrome When There Is a Pathogenic Heterozygous COL4A3 or COL4A4 Variant? ( 30450445 )
2018
2
Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family. ( 28674241 )
2017
3
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome. ( 27281700 )
2016
4
Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing. ( 27934798 )
2016
5
Study of the True Clinical Progression of Autosomal Dominant Alport Syndrome in a European Population. ( 26277931 )
2015
6
A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers. ( 25450602 )
2015
7
COL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome. ( 25755845 )
2014
8
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. ( 24033287 )
2013
9
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. ( 19129241 )
2009
10
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. ( 15086897 )
2004
11
Correlation of histopathological features and renal impairment in autosomal dominant Alport syndrome in Bull terriers. ( 12401844 )
2002
12
A novel model of autosomal dominant Alport syndrome in Dalmatian dogs. ( 12454218 )
2002
13
Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia. ( 11572889 )
2001
14
Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. ( 11044206 )
2000
15
Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties. ( 11135492 )
2000
16
Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13. ( 10577925 )
1999
17
Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). ( 9269635 )
1997
18
Bull terrier hereditary nephritis: a model for autosomal dominant Alport syndrome. ( 7752574 )
1995

Variations for Alport Syndrome 3, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Alport Syndrome 3, Autosomal Dominant:

76
# Symbol AA change Variation ID SNP ID
1 COL4A3 p.Gly1167Arg VAR_011211 rs267606745

ClinVar genetic disease variations for Alport Syndrome 3, Autosomal Dominant:

6 (show top 50) (show all 165)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL4A4 NM_000092.4(COL4A4): c.2171G> A (p.Arg724His) single nucleotide variant Uncertain significance rs200146486 GRCh37 Chromosome 2, 227924333: 227924333
2 COL4A4 NM_000092.4(COL4A4): c.2171G> A (p.Arg724His) single nucleotide variant Uncertain significance rs200146486 GRCh38 Chromosome 2, 227059617: 227059617
3 COL4A4 NM_000092.4(COL4A4): c.903dup (p.Gly302Argfs) duplication Likely pathogenic GRCh37 Chromosome 2, 227967532: 227967532
4 COL4A3 NM_000091.4(COL4A3): c.3200C> G (p.Pro1067Arg) single nucleotide variant Uncertain significance rs55849096 GRCh37 Chromosome 2, 228155592: 228155592
5 COL4A3 NM_000091.4(COL4A3): c.3200C> G (p.Pro1067Arg) single nucleotide variant Uncertain significance rs55849096 GRCh38 Chromosome 2, 227290876: 227290876
6 COL4A3 NM_000091.4(COL4A3): c.2684G> A (p.Gly895Asp) single nucleotide variant Likely pathogenic rs1553760558 GRCh38 Chromosome 2, 227283794: 227283794
7 COL4A3 NM_000091.4(COL4A3): c.2684G> A (p.Gly895Asp) single nucleotide variant Likely pathogenic rs1553760558 GRCh37 Chromosome 2, 228148510: 228148510
8 COL4A3 NM_000091.4(COL4A3): c.2374+9dup duplication Uncertain significance rs1553759691 GRCh38 Chromosome 2, 227280599: 227280599
9 COL4A3 NM_000091.4(COL4A3): c.2374+9dup duplication Uncertain significance rs1553759691 GRCh37 Chromosome 2, 228145315: 228145315
10 COL4A3 NM_000091.4(COL4A3): c.1855G> A (p.Gly619Arg) single nucleotide variant Likely pathogenic rs773515249 GRCh38 Chromosome 2, 227273045: 227273045
11 COL4A3 NM_000091.4(COL4A3): c.1855G> A (p.Gly619Arg) single nucleotide variant Likely pathogenic rs773515249 GRCh37 Chromosome 2, 228137761: 228137761
12 COL4A3 NM_000091.4(COL4A3): c.361G> A (p.Gly121Ser) single nucleotide variant Likely pathogenic rs778886174 GRCh38 Chromosome 2, 227245990: 227245990
13 COL4A3 NM_000091.4(COL4A3): c.361G> A (p.Gly121Ser) single nucleotide variant Likely pathogenic rs778886174 GRCh37 Chromosome 2, 228110706: 228110706
14 COL4A4 NM_000092.4(COL4A4): c.190C> T (p.Arg64Trp) single nucleotide variant Uncertain significance rs200668675 GRCh38 Chromosome 2, 227140163: 227140163
15 COL4A4 NM_000092.4(COL4A4): c.190C> T (p.Arg64Trp) single nucleotide variant Uncertain significance rs200668675 GRCh37 Chromosome 2, 228004879: 228004879
16 COL4A4 NM_000092.4(COL4A4): c.665C> T (p.Pro222Leu) single nucleotide variant Uncertain significance rs773533313 GRCh38 Chromosome 2, 227108861: 227108861
17 COL4A4 NM_000092.4(COL4A4): c.665C> T (p.Pro222Leu) single nucleotide variant Uncertain significance rs773533313 GRCh37 Chromosome 2, 227973577: 227973577
18 COL4A4 NM_000092.4(COL4A4): c.2969-1G> C single nucleotide variant Pathogenic rs1553639043 GRCh38 Chromosome 2, 227051159: 227051159
19 COL4A4 NM_000092.4(COL4A4): c.2969-1G> C single nucleotide variant Pathogenic rs1553639043 GRCh37 Chromosome 2, 227915875: 227915875
20 COL4A4 NM_000092.4(COL4A4): c.3103A> G (p.Thr1035Ala) single nucleotide variant Uncertain significance rs1553638898 GRCh38 Chromosome 2, 227051024: 227051024
21 COL4A4 NM_000092.4(COL4A4): c.3103A> G (p.Thr1035Ala) single nucleotide variant Uncertain significance rs1553638898 GRCh37 Chromosome 2, 227915740: 227915740
22 COL4A4 NM_000092.4(COL4A4): c.3829C> T (p.Pro1277Ser) single nucleotide variant Uncertain significance rs1037084154 GRCh38 Chromosome 2, 227030587: 227030587
23 COL4A4 NM_000092.4(COL4A4): c.3829C> T (p.Pro1277Ser) single nucleotide variant Uncertain significance rs1037084154 GRCh37 Chromosome 2, 227895303: 227895303
24 COL4A4 NM_000092.4(COL4A4): c.3834dup (p.Gly1279Argfs) duplication Pathogenic rs1553625684 GRCh37 Chromosome 2, 227895298: 227895298
25 COL4A4 NM_000092.4(COL4A4): c.3834dup (p.Gly1279Argfs) duplication Pathogenic rs1553625684 GRCh38 Chromosome 2, 227030582: 227030582
26 COL4A4 NM_000092.4(COL4A4): c.4063G> A (p.Gly1355Arg) single nucleotide variant Likely pathogenic rs1553624029 GRCh37 Chromosome 2, 227892636: 227892636
27 COL4A4 NM_000092.4(COL4A4): c.4063G> A (p.Gly1355Arg) single nucleotide variant Likely pathogenic rs1553624029 GRCh38 Chromosome 2, 227027920: 227027920
28 COL4A4 NM_000092.4(COL4A4): c.4090G> T (p.Gly1364Cys) single nucleotide variant Likely pathogenic rs1553622675 GRCh38 Chromosome 2, 227025802: 227025802
29 COL4A4 NM_000092.4(COL4A4): c.4090G> T (p.Gly1364Cys) single nucleotide variant Likely pathogenic rs1553622675 GRCh37 Chromosome 2, 227890518: 227890518
30 COL4A4 NM_000092.4(COL4A4): c.4417C> A (p.Gln1473Lys) single nucleotide variant Uncertain significance rs766771700 GRCh38 Chromosome 2, 227010418: 227010418
31 COL4A4 NM_000092.4(COL4A4): c.4417C> A (p.Gln1473Lys) single nucleotide variant Uncertain significance rs766771700 GRCh37 Chromosome 2, 227875134: 227875134
32 COL4A4 NM_000092.4(COL4A4): c.4472A> G (p.Tyr1491Cys) single nucleotide variant Uncertain significance rs1553613772 GRCh37 Chromosome 2, 227875079: 227875079
33 COL4A4 NM_000092.4(COL4A4): c.4472A> G (p.Tyr1491Cys) single nucleotide variant Uncertain significance rs1553613772 GRCh38 Chromosome 2, 227010363: 227010363
34 COL4A4 NM_000092.4(COL4A4): c.4640C> T (p.Ala1547Val) single nucleotide variant Uncertain significance rs780916516 GRCh38 Chromosome 2, 227008187: 227008187
35 COL4A4 NM_000092.4(COL4A4): c.4640C> T (p.Ala1547Val) single nucleotide variant Uncertain significance rs780916516 GRCh37 Chromosome 2, 227872903: 227872903
36 COL4A3 NM_000091.4(COL4A3): c.4421T> C (p.Leu1474Pro) single nucleotide variant Uncertain significance rs200302125 GRCh37 Chromosome 2, 228172594: 228172594
37 COL4A3 NM_000091.4(COL4A3): c.4421T> C (p.Leu1474Pro) single nucleotide variant Uncertain significance rs200302125 GRCh38 Chromosome 2, 227307878: 227307878
38 COL4A3 NM_000091.4(COL4A3): c.4019G> A (p.Gly1340Glu) single nucleotide variant Likely pathogenic rs748901402 GRCh38 Chromosome 2, 227303922: 227303922
39 COL4A3 NM_000091.4(COL4A3): c.4019G> A (p.Gly1340Glu) single nucleotide variant Likely pathogenic rs748901402 GRCh37 Chromosome 2, 228168638: 228168638
40 COL4A3 NM_000091.4(COL4A3): c.3790A> G (p.Ile1264Val) single nucleotide variant Uncertain significance rs1553764410 GRCh37 Chromosome 2, 228163436: 228163436
41 COL4A3 NM_000091.4(COL4A3): c.3790A> G (p.Ile1264Val) single nucleotide variant Uncertain significance rs1553764410 GRCh38 Chromosome 2, 227298720: 227298720
42 COL4A3 NM_000091.4(COL4A3): c.3546_3548dup (p.Gly1183_Asn1184insGly) duplication Pathogenic/Likely pathogenic rs1175052474 GRCh38 Chromosome 2, 227295297: 227295299
43 COL4A3 NM_000091.4(COL4A3): c.3546_3548dup (p.Gly1183_Asn1184insGly) duplication Pathogenic/Likely pathogenic rs1175052474 GRCh37 Chromosome 2, 228160013: 228160015
44 COL4A3 NM_000091.4(COL4A3): c.5010_*14del18 deletion Uncertain significance rs765655100 GRCh38 Chromosome 2, 227311867: 227311884
45 COL4A3 NM_000091.4(COL4A3): c.5010_*14del18 deletion Uncertain significance rs765655100 GRCh37 Chromosome 2, 228176583: 228176600
46 COL4A3 NM_000091.4(COL4A3): c.4882T> G (p.Ser1628Ala) single nucleotide variant Uncertain significance rs773905198 GRCh37 Chromosome 2, 228175618: 228175618
47 COL4A3 NM_000091.4(COL4A3): c.4882T> G (p.Ser1628Ala) single nucleotide variant Uncertain significance rs773905198 GRCh38 Chromosome 2, 227310902: 227310902
48 COL4A4 NM_000092.4(COL4A4): c.2549C> T (p.Ala850Val) single nucleotide variant Uncertain significance rs758199486 GRCh38 Chromosome 2, 227056112: 227056112
49 COL4A4 NM_000092.4(COL4A4): c.2549C> T (p.Ala850Val) single nucleotide variant Uncertain significance rs758199486 GRCh37 Chromosome 2, 227920828: 227920828
50 COL4A3 NM_000091.4(COL4A3): c.3416C> T (p.Pro1139Leu) single nucleotide variant Uncertain significance rs1057516186 GRCh37 Chromosome 2, 228159284: 228159284

Expression for Alport Syndrome 3, Autosomal Dominant

Search GEO for disease gene expression data for Alport Syndrome 3, Autosomal Dominant.

Pathways for Alport Syndrome 3, Autosomal Dominant

Pathways related to Alport Syndrome 3, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 COL4A3 COL4A4
2
Show member pathways
12.4 COL4A3 COL4A4
3
Show member pathways
12.32 COL4A3 COL4A4
4 12.25 COL4A3 COL4A4
5
Show member pathways
12.23 COL4A3 COL4A4
6
Show member pathways
12.15 COL4A3 COL4A4
7
Show member pathways
12.03 COL4A3 COL4A4
8
Show member pathways
11.65 COL4A3 COL4A4
9
Show member pathways
11.63 COL4A3 COL4A4
10 11.43 COL4A3 COL4A4
11 11.39 COL4A3 COL4A4
12 11.34 COL4A3 COL4A4
13 11.19 COL4A3 COL4A4
14 11.04 COL4A3 COL4A4
15 10.85 COL4A3 COL4A4
16 10.56 COL4A3 COL4A4
17 10.44 COL4A3 COL4A4
18 10.19 COL4A3 COL4A4

GO Terms for Alport Syndrome 3, Autosomal Dominant

Cellular components related to Alport Syndrome 3, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.32 COL4A3 COL4A4
2 endoplasmic reticulum lumen GO:0005788 9.26 COL4A3 COL4A4
3 basement membrane GO:0005604 9.16 COL4A3 COL4A4
4 collagen trimer GO:0005581 8.96 COL4A3 COL4A4
5 collagen type IV trimer GO:0005587 8.62 COL4A3 COL4A4

Biological processes related to Alport Syndrome 3, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.96 COL4A3 COL4A4
2 glomerular basement membrane development GO:0032836 8.62 COL4A3 COL4A4

Molecular functions related to Alport Syndrome 3, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 COL4A3 COL4A4

Sources for Alport Syndrome 3, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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