ATS3
MCID: ALP104
MIFTS: 46

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 74 29 6
Ats3 57 74
Autosomal Dominant Alport Syndrome 59
Nephritis-Deafness Syndrome 74
Nephropathy and Deafness 74

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant alport syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
hearing loss is variable


HPO:

32
alport syndrome 3, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:



External Ids:

MeSH 44 D009394
MESH via Orphanet 45 C536586
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1567743 C2931253
Orphanet 59 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)

MalaCards based summary : Alport Syndrome 3, Autosomal Dominant, also known as ats3, is related to glomerulonephritis and autosomal dominant alport syndrome. 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 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and ECM-receptor interaction. The drugs Dopamine and Mirtazapine have been mentioned in the context of this disorder. Affiliated tissues include eye and kidney, and related phenotypes are hypertension and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 74 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 29)
# Related Disease Score Top Affiliating Genes
1 glomerulonephritis 29.7 COL4A4 COL4A3
2 autosomal dominant alport syndrome 12.8
3 spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy 11.4
4 fitzsimmons walson mellor syndrome 11.4
5 alport syndrome 2, autosomal recessive 11.3
6 alport syndrome 10.7
7 branchiootic syndrome 1 10.4
8 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
9 autosomal recessive alport syndrome 10.3
10 end stage renal failure 10.3
11 sensorineural hearing loss 10.3
12 alport syndrome 1, x-linked 10.3
13 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 10.2
14 x-linked alport syndrome 10.2
15 hypercholesterolemia, familial, 1 10.0
16 autosomal recessive disease 10.0
17 renal hypertension 10.0
18 corneal dystrophy 10.0
19 chronic kidney disease 10.0
20 basement membrane disease 10.0
21 anti-basement membrane glomerulonephritis 9.8 COL4A4 COL4A3
22 hyperprolinemia, type i 9.8
23 hyperprolinemia 9.8
24 hematuria, benign familial 9.8 COL4A4 COL4A3
25 goodpasture syndrome 9.7 COL4A4 COL4A3
26 corneal dystrophy, posterior polymorphous, 3 9.7 COL4A4 COL4A3
27 kidney disease 9.7 COL4A4 COL4A3
28 leiomyomatosis 9.6 COL4A4 COL4A3
29 focal segmental glomerulosclerosis 9.4 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:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 sensorineural hearing impairment 32 HP:0000407
3 renal insufficiency 32 HP:0000083
4 proteinuria 32 HP:0000093
5 hypophosphatemia 32 HP:0002148
6 hematuria 32 HP:0000790
7 myopia 32 HP:0000545
8 nephrotic syndrome 32 HP:0000100
9 nephrocalcinosis 32 HP:0000121
10 stage 5 chronic kidney disease 32 HP:0003774
11 glomerulonephritis 32 HP:0000099
12 lenticonus 32 HP:0001142
13 anterior polar cataract 32 HP:0001134
14 azotemia 32 HP:0002157
15 thickening of the glomerular basement membrane 32 HP:0004722
16 diffuse glomerular basement membrane lamellation 32 HP:0030034

Symptoms via clinical synopsis from OMIM:

57
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

Drugs for Alport Syndrome 3, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
2
Mirtazapine Approved Phase 3 61337-67-5, 85650-52-8 4205
3
Histamine Approved, Investigational Phase 3 51-45-6 774
4
Amphetamine Approved, Illicit, Investigational Phase 3 300-62-9 5826 3007
5
Atropine Approved, Vet_approved Phase 3 5908-99-6, 51-55-8 174174
6 Dopamine Agents Phase 3
7 Sympathomimetics Phase 3
8 Central Nervous System Stimulants Phase 3
9 Tranquilizing Agents Phase 3
10 Anti-Anxiety Agents Phase 3
11 Serotonin 5-HT2 Receptor Antagonists Phase 3
12 Adrenergic alpha-Antagonists Phase 3
13 Antidepressive Agents Phase 3
14 Neurotransmitter Uptake Inhibitors Phase 3
15 Adrenergic alpha-2 Receptor Antagonists Phase 3
16 Serotonin 5-HT3 Receptor Antagonists Phase 3
17 Serotonin Antagonists Phase 3
18 Serotonin Agents Phase 3
19 Adrenergic Agents Phase 3
20 Histamine H1 Antagonists Phase 3
21 Analgesics, Opioid Phase 3
22 Histamine Antagonists Phase 3
23 Adrenergic Antagonists Phase 3
24
Histamine Phosphate Phase 3 51-74-1 65513
25 Psychotropic Drugs Phase 3
26 Dopamine Uptake Inhibitors Phase 3
27 Central Nervous System Depressants Phase 3
28 Neurotransmitter Agents Phase 3
29 Parasympatholytics Phase 3
30 Adjuvants, Anesthesia Phase 3
31 Cholinergic Agents Phase 3
32 Muscarinic Antagonists Phase 3
33 Peripheral Nervous System Agents Phase 3
34 Mydriatics Phase 3
35 Cholinergic Antagonists Phase 3
36 Respiratory System Agents Phase 3
37 Anti-Arrhythmia Agents Phase 3
38 Anesthetics Phase 3
39 Anti-Asthmatic Agents Phase 3
40 Autonomic Agents Phase 3
41 Bronchodilator Agents Phase 3
42
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
43
Levodopa Approved Phase 2 59-92-7 6047
44
Carbidopa Approved Phase 2 28860-95-9 34359
45 Antiparkinson Agents Phase 2
46 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Mirtazapine as a Treatment for Co-Occurring Opioid and Amphetamine Type Stimulant Dependence (COATS) in Malaysia Unknown status NCT02541526 Phase 3 Mirtazapine;Placebo
2 A Randomized Trial Comparing Patching Versus Atropine for Amblyopia in 7 to < 13 Year Olds Completed NCT00315328 Phase 3 Atropine
3 A Randomized Trial Comparing Patching With Active Vision Therapy to Patching With Control Vision Therapy as Treatment for Amblyopia in Children 7 to <13 Years Old Terminated NCT00587171 Phase 3
4 A Pilot Study to Evaluate Levodopa as Treatment for Residual Amblyopia in 8 to 17 Year Olds Completed NCT00789672 Phase 2 levodopa/carbidopa;levodopa/carbidopa
5 Alport Syndrome Treatments and Outcomes Registry Recruiting NCT00481130

Search 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:

41
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. 8 71
11134255 2001
2
Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. 8 71
11044206 2000
3
Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). 8 71
9269635 1997
4
Evidence of digenic inheritance in Alport syndrome. 8
25575550 2015
5
Clinical utility gene card for: Alport syndrome. 71
22166944 2012
6
Alport Syndrome 71
20301386 2001
7
Genetic heterogeneity of Alport syndrome. 8
4010153 1985
8
Apparently changing patterns of inheritance in Alport's hereditary nephritis: genetic heterogeneity versus altered diagnostic criteria. 8
7371220 1980
9
Hereditary nephritis: a re-examination of its clinical and genetic features. 8
626446 1978
10
Abnormal Segregation in Hereditary Renal Disease with Deafness. 8
17948465 1961
11
HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS. 8
20773074 1927
12
Influence of the structural components of artificial turf systems on impact attenuation in amateur football players. 38
31123289 2019
13
Effects of structural components of artificial turf on the transmission of impacts in football players. 38
28632048 2018
14
Correlation of physician seniority with increased emergency department efficiency during a resident doctors' strike. 38
18425155 2008
15
AtMRD1 and AtMRU1, two novel genes with altered mRNA levels in the methionine over-accumulating mto1-1 mutant of Arabidopsis thaliana. 38
12198195 2002
16
ATS1 and ATS3: two novel embryo-specific genes in Arabidopsis thaliana. 38
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 113)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL4A3 NM_000091.4(COL4A3): c.3240_3243AAAG[1] (p.Lys1082fs) short repeat Pathogenic rs1057516204 2:228157940-228157943 2:227293224-227293227
2 COL4A4 NM_000092.4(COL4A4): c.4129C> T (p.Arg1377Ter) single nucleotide variant Pathogenic rs121912861 2:227886851-227886851 2:227022135-227022135
3 COL4A3 NM_000091.4(COL4A3): c.2083G> A (p.Gly695Arg) single nucleotide variant Pathogenic rs200287952 2:228142227-228142227 2:227277511-227277511
4 COL4A4 NM_000092.4(COL4A4): c.1221_1237del (p.Gly408fs) deletion Pathogenic 2:227958973-227958989 2:227094257-227094273
5 COL4A4 NM_000092.4(COL4A4): c.2171del (p.Arg724fs) deletion Pathogenic 2:227924333-227924333 2:227059617-227059617
6 COL4A4 NM_000092.4(COL4A4): c.1389del (p.Asn464fs) deletion Pathogenic 2:227954654-227954654 2:227089940-227089940
7 COL4A4 NM_000092.4(COL4A4): c.1221del (p.Pro409fs) deletion Pathogenic 2:227958989-227958989 2:227094273-227094273
8 COL4A4 NM_000092.4(COL4A4): c.4460_4463dup (p.Trp1488fs) duplication Pathogenic 2:227875088-227875091 2:227010372-227010375
9 COL4A3 NM_000091.4(COL4A3): c.1594G> T (p.Gly532Cys) single nucleotide variant Pathogenic 2:228135504-228135504 2:227270788-227270788
10 COL4A3 NM_000091.4(COL4A3): c.2162del (p.Gly721fs) deletion Pathogenic 2:228144545-228144545 2:227279829-227279829
11 COL4A3 NM_000091.4(COL4A3): c.3266G> A (p.Gly1089Asp) single nucleotide variant Pathogenic 2:228157962-228157962 2:227293246-227293246
12 COL4A3 NM_000091.4(COL4A3): c.3575G> A (p.Gly1192Glu) single nucleotide variant Pathogenic 2:228162399-228162399 2:227297683-227297683
13 COL4A3 NM_000091.4(COL4A3): c.3580del (p.Arg1194fs) deletion Pathogenic 2:228162404-228162404 2:227297688-227297688
14 COL4A3 NM_000091.4(COL4A3): c.3813del (p.Ser1272fs) deletion Pathogenic 2:228163459-228163459 2:227298743-227298743
15 COL4A3 NM_000091.4(COL4A3): c.3230G> A (p.Gly1077Asp) single nucleotide variant Pathogenic 2:228157926-228157926 2:227293210-227293210
16 COL4A4 NM_000092.4(COL4A4): c.4820del (p.Ala1607fs) deletion Pathogenic 2:227872294-227872294 2:227007578-227007578
17 COL4A3 NM_000091.4(COL4A3): c.4474A> T (p.Ser1492Cys) single nucleotide variant Pathogenic rs1057519377 2:228173626-228173626 2:227308910-227308910
18 COL4A3 NM_000091.4(COL4A3): c.4382C> T (p.Pro1461Leu) single nucleotide variant Pathogenic rs760462252 2:228172555-228172555 2:227307839-227307839
19 COL4A3 NM_000091.4(COL4A3): c.998G> C (p.Gly333Ala) single nucleotide variant Pathogenic rs1057519376 2:228122329-228122329 2:227257613-227257613
20 COL4A4 NM_000092.4(COL4A4): c.1321_1369+3del deletion Pathogenic rs1553676221 2:227958838-227958889 2:227094122-227094173
21 COL4A3 COL4A3, IVS21DS, G-A, -1 single nucleotide variant Pathogenic
22 COL4A3 NM_000091.4(COL4A3): c.4441C> T (p.Arg1481Ter) single nucleotide variant Pathogenic rs121912824 2:228172614-228172614 2:227307898-227307898
23 COL4A3 NM_000091.4(COL4A3): c.3109C> T (p.Arg1037Ter) single nucleotide variant Pathogenic rs766900945 2:228155501-228155501 2:227290785-227290785
24 COL4A4 NM_000092.4(COL4A4): c.2969-1G> C single nucleotide variant Pathogenic rs1553639043 2:227915875-227915875 2:227051159-227051159
25 COL4A4 NM_000092.4(COL4A4): c.3834dup (p.Gly1279fs) duplication Pathogenic rs1553625684 2:227895298-227895298 2:227030582-227030582
26 COL4A3 NM_000091.4(COL4A3): c.391G> T (p.Glu131Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1346138010 2:228111404-228111404 2:227246688-227246688
27 COL4A3 NM_000091.4(COL4A3): c.3546_3548dup (p.Gly1183dup) duplication Pathogenic/Likely pathogenic rs1175052474 2:228160013-228160015 2:227295297-227295299
28 COL4A3 NM_000091.4(COL4A3): c.2371C> T (p.Arg791Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1060499654 2:228145303-228145303 2:227280587-227280587
29 COL4A3 NM_000091.4(COL4A3): c.3499G> A (p.Gly1167Arg) single nucleotide variant Pathogenic/Likely pathogenic rs267606745 2:228159760-228159760 2:227295044-227295044
30 COL4A3 NM_000091.4(COL4A3): c.898G> A (p.Gly300Arg) single nucleotide variant Pathogenic/Likely pathogenic 2:228120751-228120751 2:227256035-227256035
31 COL4A3 NM_000091.4(COL4A3): c.2284G> C (p.Gly762Arg) single nucleotide variant Likely pathogenic 2:228145216-228145216 2:227280500-227280500
32 COL4A3 NM_000091.4(COL4A3): c.2002G> C (p.Gly668Arg) single nucleotide variant Likely pathogenic 2:228141175-228141175 2:227276459-227276459
33 COL4A4 NM_000092.4(COL4A4): c.596G> T (p.Gly199Val) single nucleotide variant Likely pathogenic 2:227974001-227974001 2:227109285-227109285
34 COL4A4 NM_000092.4(COL4A4): c.693G> A (p.Lys231=) single nucleotide variant Likely pathogenic 2:227973549-227973549 2:227108833-227108833
35 COL4A3 NM_000091.4(COL4A3): c.833dup (p.Pro279fs) duplication Likely pathogenic rs1363680371 2:228119376-228119376 2:227254660-227254660
36 COL4A3 NM_000091.4(COL4A3): c.4803del (p.Gly1602fs) deletion Likely pathogenic rs760846085 2:228175538-228175539 2:227310823-227310823
37 COL4A3 NM_000091.4(COL4A3): c.343G> A (p.Gly115Arg) single nucleotide variant Likely pathogenic 2:228110688-228110688 2:227245972-227245972
38 COL4A3 NM_000091.4(COL4A3): c.3629G> A (p.Gly1210Glu) single nucleotide variant Likely pathogenic 2:228162453-228162453 2:227297737-227297737
39 COL4A4 NM_000092.4(COL4A4): c.903dup (p.Gly302fs) duplication Likely pathogenic 2:227967532-227967532 2:227102816-227102816
40 COL4A4 NM_000092.4(COL4A4): c.481G> C (p.Gly161Arg) single nucleotide variant Likely pathogenic 2:227983369-227983369 2:227118653-227118653
41 COL4A3 NM_000091.4(COL4A3): c.725G> A (p.Gly242Glu) single nucleotide variant Likely pathogenic 2:228118314-228118314 2:227253598-227253598
42 COL4A4 NM_000092.4(COL4A4): c.755G> T (p.Gly252Val) single nucleotide variant Likely pathogenic 2:227968749-227968749 2:227104033-227104033
43 COL4A4 NM_000092.4(COL4A4): c.1030-1G> C single nucleotide variant Likely pathogenic 2:227964406-227964406 2:227099690-227099690
44 COL4A4 NM_000092.4(COL4A4): c.941G> T (p.Gly314Val) single nucleotide variant Likely pathogenic 2:227966615-227966615 2:227101899-227101899
45 COL4A3 NM_000091.4(COL4A3): c.2981G> A (p.Gly994Asp) single nucleotide variant Likely pathogenic 2:228154715-228154715 2:227289999-227289999
46 COL4A4 NM_000092.4(COL4A4): c.4858G> A (p.Gly1620Ser) single nucleotide variant Likely pathogenic 2:227872256-227872256 2:227007540-227007540
47 COL4A4 NM_000092.4(COL4A4): c.3875G> A (p.Gly1292Asp) single nucleotide variant Likely pathogenic 2:227895257-227895257 2:227030541-227030541
48 COL4A4 NM_000092.4(COL4A4): c.3638G> T (p.Gly1213Val) single nucleotide variant Likely pathogenic 2:227896932-227896932 2:227032216-227032216
49 COL4A4 NM_000092.4(COL4A4): c.1907G> A (p.Gly636Asp) single nucleotide variant Likely pathogenic 2:227942690-227942690 2:227077974-227077974
50 COL4A4 NM_000092.4(COL4A4): c.1828G> A (p.Gly610Ser) single nucleotide variant Likely pathogenic 2:227942769-227942769 2:227078053-227078053

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

74
# 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

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 COL4A4 COL4A3
2 endoplasmic reticulum lumen GO:0005788 9.26 COL4A4 COL4A3
3 basement membrane GO:0005604 9.16 COL4A4 COL4A3
4 collagen trimer GO:0005581 8.96 COL4A4 COL4A3
5 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 8.62 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
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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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