ATS3
MCID: ALP104
MIFTS: 42

Alport Syndrome 3, Autosomal Dominant (ATS3)

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 57 73 29 6
Ats3 57 73
Autosomal Dominant Alport Syndrome 58
Nephritis-Deafness Syndrome 73
Nephropathy and Deafness 73

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant alport syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
hearing loss is variable


HPO:

31
alport syndrome 3, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 104200
OMIM Phenotypic Series 57 PS301050
MeSH 44 D009394
MESH via Orphanet 45 C536586
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1567743 C2931253
Orphanet 58 ORPHA88918

Summaries for Alport Syndrome 3, Autosomal Dominant

OMIM® : 57 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) (Updated 05-Mar-2021)

MalaCards based summary : Alport Syndrome 3, Autosomal Dominant, also known as ats3, is related to autosomal dominant alport syndrome and alport syndrome 2, autosomal recessive. 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 Relaxin signaling pathway and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Affiliated tissues include eye and kidney, and related phenotypes are hypertension and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 73 Alport syndrome 3, 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

Diseases in the Alport Syndrome family:

Alport Syndrome 3, Autosomal Dominant Alport Syndrome 2, Autosomal Recessive
Autosomal Dominant Alport Syndrome Autosomal Recessive Alport Syndrome

Diseases related to Alport Syndrome 3, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant alport syndrome 31.8 MFF-DT COL4A4 COL4A3
2 alport syndrome 2, autosomal recessive 30.7 MFF-DT COL4A4 COL4A3
3 alport syndrome 30.3 MFF-DT COL4A4 COL4A3
4 x-linked alport syndrome 30.3 COL4A4 COL4A3
5 end stage renal disease 30.0 COL4A4 COL4A3
6 glomerulonephritis 29.9 COL4A4 COL4A3
7 autosomal recessive alport syndrome 29.8 MFF-DT COL4A4 COL4A3
8 proteinuria, chronic benign 29.3 MFF-DT COL4A4 COL4A3
9 spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy 11.1
10 fitzsimmons walson mellor syndrome 11.1
11 branchiootic syndrome 1 10.4
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
13 sensorineural hearing loss 10.3
14 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 10.2
15 hypercholesterolemia, familial, 1 10.0
16 autosomal recessive disease 10.0
17 corneal dystrophy 10.0
18 alport syndrome 1, x-linked 9.9
19 thyroid hyalinizing trabecular adenoma 9.9
20 anti-basement membrane glomerulonephritis 9.9 COL4A4 COL4A3
21 irregular astigmatism 9.9 COL4A4 COL4A3
22 corneal dystrophy, posterior polymorphous, 3 9.9 COL4A4 COL4A3
23 autoimmune disease of urogenital tract 9.9 COL4A4 COL4A3
24 rapidly progressive glomerulonephritis 9.9 COL4A4 COL4A3
25 pierson syndrome 9.9 COL4A4 COL4A3
26 hyperprolinemia, type i 9.9
27 hyperprolinemia 9.9
28 goodpasture syndrome 9.9 COL4A4 COL4A3
29 familial nephrotic syndrome 9.9 COL4A4 COL4A3
30 nail-patella syndrome 9.8 COL4A4 COL4A3
31 porencephaly 9.8 COL4A4 COL4A3
32 leiomyomatosis 9.8 COL4A4 COL4A3
33 fuchs' endothelial dystrophy 9.8 COL4A4 COL4A3
34 corneal dystrophy, posterior polymorphous, 1 9.8 COL4A4 COL4A3
35 hereditary hearing loss and deafness 9.7 MFF-DT COL4A3
36 keratoconus 9.7 COL4A4 COL4A3
37 focal segmental glomerulosclerosis 9.6 COL4A4 COL4A3
38 hematuria, benign familial 9.5 MFF-DT COL4A4 COL4A3

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:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 sensorineural hearing impairment 31 HP:0000407
3 proteinuria 31 HP:0000093
4 hypophosphatemia 31 HP:0002148
5 renal insufficiency 31 HP:0000083
6 myopia 31 HP:0000545
7 nephrotic syndrome 31 HP:0000100
8 hematuria 31 HP:0000790
9 nephrocalcinosis 31 HP:0000121
10 stage 5 chronic kidney disease 31 HP:0003774
11 glomerulonephritis 31 HP:0000099
12 lenticonus 31 HP:0001142
13 anterior polar cataract 31 HP:0001134
14 azotemia 31 HP:0002157
15 thickened glomerular basement membrane 31 HP:0004722
16 glomerular basement membrane lamellation 31 HP:0030034

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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 3, Autosomal Dominant 29 COL4A3

Anatomical Context for Alport Syndrome 3, Autosomal Dominant

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

40
Eye, Kidney

Publications for Alport Syndrome 3, Autosomal Dominant

Articles related to Alport Syndrome 3, Autosomal Dominant:

(show all 16)
# Title Authors PMID Year
1
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. 6 57
11134255 2001
2
Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. 6 57
11044206 2000
3
Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). 6 57
9269635 1997
4
Evidence of digenic inheritance in Alport syndrome. 57
25575550 2015
5
Genetic heterogeneity of Alport syndrome. 57
4010153 1985
6
Apparently changing patterns of inheritance in Alport's hereditary nephritis: genetic heterogeneity versus altered diagnostic criteria. 57
7371220 1980
7
Hereditary nephritis: a re-examination of its clinical and genetic features. 57
626446 1978
8
Abnormal Segregation in Hereditary Renal Disease with Deafness. 57
17948465 1961
9
HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS. 57
20773074 1927
10
Gene expression of PLAT and ATS3 proteins increases plant resistance to insects. 61
33464406 2021
11
Distribution of External Load During Acquisition Training Sessions and Match Play of a Professional Soccer Team. 61
31469765 2019
12
Influence of the structural components of artificial turf systems on impact attenuation in amateur football players. 61
31123289 2019
13
Effects of structural components of artificial turf on the transmission of impacts in football players. 61
28632048 2018
14
Correlation of physician seniority with increased emergency department efficiency during a resident doctors' strike. 61
18425155 2008
15
AtMRD1 and AtMRU1, two novel genes with altered mRNA levels in the methionine over-accumulating mto1-1 mutant of Arabidopsis thaliana. 61
12198195 2002
16
ATS1 and ATS3: two novel embryo-specific genes in Arabidopsis thaliana. 61
10380802 1999

Variations for Alport Syndrome 3, Autosomal Dominant

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

6 (show top 50) (show all 207)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL4A4 NM_000092.4(COL4A4):c.2878G>A (p.Gly960Arg) SNV Pathogenic 550472 rs769783985 2:227917111-227917111 2:227052395-227052395
2 COL4A3 COL4A3, IVS21DS, G-A, -1 SNV Pathogenic 17491
3 MFF-DT NM_000091.5(COL4A3):c.4235G>T (p.Gly1412Val) SNV Pathogenic 870362 2:228169782-228169782 2:227305066-227305066
4 MFF-DT NM_000091.4(COL4A3):c.4803del (p.Gly1602fs) Deletion Pathogenic 550931 rs760846085 2:228175539-228175539 2:227310823-227310823
5 COL4A4 NM_000092.4(COL4A4):c.4460_4463dup (p.Trp1488fs) Duplication Pathogenic 635509 rs1575714693 2:227875087-227875088 2:227010371-227010372
6 COL4A4 NM_000092.4(COL4A4):c.755G>T (p.Gly252Val) SNV Pathogenic 635513 rs760795817 2:227968749-227968749 2:227104033-227104033
7 COL4A4 NM_000092.5(COL4A4):c.4808T>C (p.Met1603Thr) SNV Pathogenic 992382 2:227872735-227872735 2:227008019-227008019
8 MFF-DT NM_000091.4(COL4A3):c.4441C>T (p.Arg1481Ter) SNV Pathogenic 17484 rs121912824 2:228172614-228172614 2:227307898-227307898
9 MFF-DT NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) SNV Pathogenic 449540 rs200302125 2:228172594-228172594 2:227307878-227307878
10 MFF-DT NM_000091.4(COL4A3):c.898G>A (p.Gly300Arg) SNV Pathogenic 562427 rs772708743 2:228120751-228120751 2:227256035-227256035
11 MFF-DT NM_000091.4(COL4A3):c.1594G>T (p.Gly532Cys) SNV Pathogenic 635483 rs779575469 2:228135504-228135504 2:227270788-227270788
12 MFF-DT NM_000091.5(COL4A3):c.2162del (p.Gly721fs) Deletion Pathogenic 635447 rs1399954090 2:228144543-228144543 2:227279827-227279827
13 MFF-DT NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup) Duplication Pathogenic 438655 rs1175052474 2:228160011-228160012 2:227295295-227295296
14 MFF-DT NM_000091.4(COL4A3):c.2083G>A (p.Gly695Arg) SNV Pathogenic 369964 rs200287952 2:228142227-228142227 2:227277511-227277511
15 MFF-DT NM_000091.5(COL4A3):c.3829G>A SNV Pathogenic 555905 rs190598500 2:228163475-228163475 2:227298759-227298759
16 MFF-DT NM_000091.5(COL4A3):c.345del Deletion Pathogenic 554004 rs749390823 2:228110688-228110688 2:227245972-227245972
17 MFF-DT NM_000091.4(COL4A3):c.443G>T (p.Gly148Val) SNV Pathogenic 551046 rs775373641 2:228112275-228112275 2:227247559-227247559
18 COL4A4 NM_000092.4(COL4A4):c.1321_1369+3del Deletion Pathogenic 242441 rs1553676221 2:227958838-227958889 2:227094122-227094173
19 MFF-DT NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg) SNV Pathogenic 17492 rs267606745 2:228159760-228159760 2:227295044-227295044
20 MFF-DT NM_000091.5(COL4A3):c.2987_2993del (p.Arg996fs) Deletion Pathogenic 974466 2:228154720-228154726 2:227290004-227290010
21 MFF-DT NM_000091.5(COL4A3):c.2371C>T SNV Pathogenic 397514 rs1060499654 2:228145303-228145303 2:227280587-227280587
22 COL4A4 NM_000092.4(COL4A4):c.4129C>T (p.Arg1377Ter) SNV Pathogenic 17407 rs121912861 2:227886851-227886851 2:227022135-227022135
23 MFF-DT NM_000091.4(COL4A3):c.3244_3247delAAAG Microsatellite Pathogenic 369965 rs1057516204 2:228157935-228157938 2:227293219-227293222
24 MFF-DT NM_000091.4(COL4A3):c.1855G>A (p.Gly619Arg) SNV Pathogenic 522482 rs773515249 2:228137761-228137761 2:227273045-227273045
25 COL4A4 NM_000092.5(COL4A4):c.678_682dup (p.Pro228fs) Duplication Pathogenic 830016 rs1576571835 2:227973559-227973560 2:227108843-227108844
26 COL4A4 NM_000092.5(COL4A4):c.4624_4627TGGC[1] (p.Leu1543fs) Microsatellite Pathogenic 829937 rs1575696646 2:227872912-227872915 2:227008196-227008199
27 MFF-DT NM_000091.4(COL4A3):c.3109C>T (p.Arg1037Ter) SNV Pathogenic 554110 rs766900945 2:228155501-228155501 2:227290785-227290785
28 COL4A4 NM_000092.4(COL4A4):c.3834dup (p.Gly1279fs) Duplication Pathogenic 522537 rs1553625684 2:227895297-227895298 2:227030581-227030582
29 MFF-DT NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter) SNV Pathogenic 558496 rs1346138010 2:228111404-228111404 2:227246688-227246688
30 MFF-DT NM_000091.5(COL4A3):c.1559G>A (p.Gly520Asp) SNV Pathogenic 830011 rs1574745989 2:228134680-228134680 2:227269964-227269964
31 MFF-DT NM_000091.5(COL4A3):c.3013_3038del (p.Pro1005fs) Deletion Pathogenic 829933 rs1574803208 2:228154745-228154770 2:227290029-227290054
32 COL4A4 NM_000092.5(COL4A4):c.4522G>A (p.Gly1508Ser) SNV Pathogenic 829920 rs1003748020 2:227875029-227875029 2:227010313-227010313
33 COL4A4 NM_000092.5(COL4A4):c.192+1_192+2delinsTGATGTA Indel Pathogenic 829857 rs1576812577 2:228004875-228004876 2:227140159-227140160
34 MFF-DT NM_000091.5(COL4A3):c.1505-2A>C SNV Pathogenic 829845 rs1247804051 2:228134624-228134624 2:227269908-227269908
35 MFF-DT NM_000091.5(COL4A3):c.142A>T (p.Lys48Ter) SNV Pathogenic 829844 rs1207493576 2:228102738-228102738 2:227238022-227238022
36 COL4A4 NM_000092.5(COL4A4):c.2171del (p.Arg724fs) Deletion Pathogenic 635547 rs1576207007 2:227924333-227924333 2:227059617-227059617
37 MFF-DT NM_000091.5(COL4A3):c.3580del (p.Arg1194fs) Deletion Pathogenic 635508 rs1574823188 2:228162404-228162404 2:227297688-227297688
38 MFF-DT NM_000091.4(COL4A3):c.3266G>A (p.Gly1089Asp) SNV Pathogenic 635506 rs1574813382 2:228157962-228157962 2:227293246-227293246
39 COL4A4 NM_000092.5(COL4A4):c.1389del (p.Asn464fs) Deletion Pathogenic 635494 rs1576428862 2:227954654-227954654 2:227089938-227089938
40 MFF-DT NM_000091.4(COL4A3):c.3575G>A (p.Gly1192Glu) SNV Pathogenic 635543 rs1574823172 2:228162399-228162399 2:227297683-227297683
41 COL4A4 NM_000092.5(COL4A4):c.1221del (p.Pro409fs) Deletion Pathogenic 635526 rs1576457876 2:227958989-227958989 2:227094273-227094273
42 COL4A4 NM_000092.4(COL4A4):c.4599T>G (p.Tyr1533Ter) SNV Pathogenic 557279 rs369922627 2:227872944-227872944 2:227008228-227008228
43 COL4A4 NM_000092.4(COL4A4):c.1221_1237del (p.Gly408fs) Deletion Pathogenic 599148 rs1559606445 2:227958973-227958989 2:227094257-227094273
44 MFF-DT NM_000091.4(COL4A3):c.3230G>A (p.Gly1077Asp) SNV Pathogenic 599139 rs1559909384 2:228157926-228157926 2:227293210-227293210
45 COL4A4 NM_000092.4(COL4A4):c.4820del (p.Ala1607fs) Deletion Pathogenic 599086 rs1559394354 2:227872294-227872294 2:227007578-227007578
46 MFF-DT NM_000091.4(COL4A3):c.3813del (p.Ser1272fs) Deletion Pathogenic 599079 rs1559914770 2:228163457-228163457 2:227298741-227298741
47 COL4A4 NM_000092.5(COL4A4):c.2969-1G>C SNV Pathogenic 522543 rs1553639043 2:227915875-227915875 2:227051159-227051159
48 MFF-DT NM_000091.4(COL4A3):c.998G>C (p.Gly333Ala) SNV Pathogenic 224786 rs1057519376 2:228122329-228122329 2:227257613-227257613
49 MFF-DT NM_000091.4(COL4A3):c.4474A>T (p.Ser1492Cys) SNV Pathogenic 224788 rs1057519377 2:228173626-228173626 2:227308910-227308910
50 MFF-DT NM_000091.4(COL4A3):c.4382C>T (p.Pro1461Leu) SNV Pathogenic 224787 rs760462252 2:228172555-228172555 2:227307839-227307839

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

73
# Symbol AA change Variation ID SNP ID
1 COL4A3 p.Gly1167Arg VAR_011211 rs267606745

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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.09 COL4A4 COL4A3
2
Show member pathways
12.03 COL4A4 COL4A3
3
Show member pathways
11.65 COL4A4 COL4A3
4 11.44 COL4A4 COL4A3
5 11.4 COL4A4 COL4A3
6 11.33 COL4A4 COL4A3
7 11.19 COL4A4 COL4A3
8 11.04 COL4A4 COL4A3
9 10.85 COL4A4 COL4A3
10 10.56 COL4A4 COL4A3
11 10.19 COL4A4 COL4A3

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 collagen-containing extracellular matrix GO:0062023 9.37 COL4A4 COL4A3
2 endoplasmic reticulum lumen GO:0005788 9.32 COL4A4 COL4A3
3 extracellular matrix GO:0031012 9.26 COL4A4 COL4A3
4 basement membrane GO:0005604 9.16 COL4A4 COL4A3
5 collagen trimer GO:0005581 8.96 COL4A4 COL4A3
6 collagen type IV trimer GO:0005587 8.62 COL4A4 COL4A3

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 COL4A4 COL4A3
2 glomerular basement membrane development GO:0032836 8.62 COL4A4 COL4A3

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 8.96 COL4A4 COL4A3
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL4A4 COL4A3

Sources for Alport Syndrome 3, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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