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 56 73 29 6
Ats3 56 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:

56
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 56 104200
OMIM Phenotypic Series 56 PS301050
MeSH 43 D009394
MESH via Orphanet 44 C536586
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1567743 C2931253
Orphanet 58 ORPHA88918

Summaries for Alport Syndrome 3, Autosomal Dominant

OMIM : 56 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 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. The drugs Dopamine and Mirtazapine have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and endothelial, 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 31)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant alport syndrome 33.0 MFF-DT COL4A4 COL4A3
2 alport syndrome 2, autosomal recessive 31.7 COL4A4 COL4A3
3 autosomal recessive alport syndrome 30.2 COL4A4 COL4A3
4 x-linked alport syndrome 30.0 COL4A4 COL4A3
5 alport syndrome 29.9 MFF-DT COL4A4 COL4A3
6 glomerulonephritis 29.8 COL4A4 COL4A3
7 spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy 11.4
8 fitzsimmons walson mellor syndrome 11.4
9 branchiootic syndrome 1 10.4
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
11 sensorineural hearing loss 10.3
12 end stage renal failure 10.3
13 alport syndrome 1, x-linked 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 chronic kidney disease 10.0
19 anti-basement membrane glomerulonephritis 9.8 COL4A4 COL4A3
20 hematuria, benign familial 9.8 COL4A4 COL4A3
21 hyperprolinemia, type i 9.8
22 hyperprolinemia 9.8
23 pierson syndrome 9.8 COL4A4 COL4A3
24 porencephaly 9.8 COL4A4 COL4A3
25 goodpasture syndrome 9.8 COL4A4 COL4A3
26 nail-patella syndrome 9.7 COL4A4 COL4A3
27 leiomyomatosis 9.7 COL4A4 COL4A3
28 fuchs' endothelial dystrophy 9.7 COL4A4 COL4A3
29 corneal dystrophy, posterior polymorphous, 1 9.6 COL4A4 COL4A3
30 focal segmental glomerulosclerosis 9.5 COL4A4 COL4A3
31 keratoconus 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:

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 hematuria 31 HP:0000790
7 myopia 31 HP:0000545
8 nephrotic syndrome 31 HP:0000100
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 thickening of the glomerular basement membrane 31 HP:0004722
16 diffuse glomerular basement membrane lamellation 31 HP:0030034

Symptoms via clinical synopsis from OMIM:

56
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 43)
# 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 85650-52-8, 61337-67-5 4205
3
Amphetamine Approved, Illicit, Investigational Phase 3 300-62-9 5826 3007
4
Histamine Approved, Investigational Phase 3 51-45-6 774
5
Atropine Approved, Vet_approved Phase 3 5908-99-6, 51-55-8 174174
6 Dopamine Agents Phase 3
7 Tranquilizing Agents Phase 3
8 Anti-Anxiety Agents Phase 3
9 Sympathomimetics Phase 3
10 Dopamine Uptake Inhibitors Phase 3
11 Analgesics, Opioid Phase 3
12 Adrenergic Antagonists Phase 3
13 Central Nervous System Stimulants Phase 3
14 Adrenergic alpha-Antagonists Phase 3
15 Psychotropic Drugs Phase 3
16 Serotonin 5-HT2 Receptor Antagonists Phase 3
17 Histamine H1 Antagonists Phase 3
18 Serotonin Agents Phase 3
19 Histamine Antagonists Phase 3
20
Histamine Phosphate Phase 3 51-74-1 65513
21 Central Nervous System Depressants Phase 3
22 Antidepressive Agents Phase 3
23 Adrenergic Agents Phase 3
24 Serotonin 5-HT3 Receptor Antagonists Phase 3
25 Serotonin Antagonists Phase 3
26 Neurotransmitter Agents Phase 3
27 Anti-Arrhythmia Agents Phase 3
28 Adjuvants, Anesthesia Phase 3
29 Anti-Asthmatic Agents Phase 3
30 Anesthetics Phase 3
31 Respiratory System Agents Phase 3
32 Muscarinic Antagonists Phase 3
33 Autonomic Agents Phase 3
34 Bronchodilator Agents Phase 3
35 Cholinergic Agents Phase 3
36 Mydriatics Phase 3
37 Cholinergic Antagonists Phase 3
38 Parasympatholytics Phase 3
39
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
40
Levodopa Approved Phase 2 59-92-7 6047
41
Carbidopa Approved Phase 2 28860-95-9 34359
42 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2
43 Antiparkinson Agents 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:

40
Eye, Kidney, Endothelial

Publications for Alport Syndrome 3, Autosomal Dominant

Articles related to Alport Syndrome 3, Autosomal Dominant:

(show all 17)
# Title Authors PMID Year
1
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. 56 6
11134255 2001
2
Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. 56 6
11044206 2000
3
Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). 56 6
9269635 1997
4
Evidence of digenic inheritance in Alport syndrome. 56
25575550 2015
5
Clinical utility gene card for: Alport syndrome. 6
22166944 2012
6
Alport Syndrome 6
20301386 2001
7
Genetic heterogeneity of Alport syndrome. 56
4010153 1985
8
Apparently changing patterns of inheritance in Alport's hereditary nephritis: genetic heterogeneity versus altered diagnostic criteria. 56
7371220 1980
9
Hereditary nephritis: a re-examination of its clinical and genetic features. 56
626446 1978
10
Abnormal Segregation in Hereditary Renal Disease with Deafness. 56
17948465 1961
11
HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS. 56
20773074 1927
12
Distribution of External Load During Acquisition Training Sessions and Match Play of a Professional Soccer Team. 61
31469765 2019
13
Influence of the structural components of artificial turf systems on impact attenuation in amateur football players. 61
31123289 2019
14
Effects of structural components of artificial turf on the transmission of impacts in football players. 61
28632048 2018
15
Correlation of physician seniority with increased emergency department efficiency during a resident doctors' strike. 61
18425155 2008
16
AtMRD1 and AtMRU1, two novel genes with altered mRNA levels in the methionine over-accumulating mto1-1 mutant of Arabidopsis thaliana. 61
12198195 2002
17
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 116) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL4A4 NM_000092.4(COL4A4):c.4460_4463dup (p.Trp1488fs)duplication Pathogenic 635509 2:227875087-227875088 2:227010371-227010372
2 COL4A4 NM_000092.5(COL4A4):c.2171del (p.Arg724fs)deletion Pathogenic 635547 2:227924333-227924333 2:227059617-227059617
3 COL4A4 NM_000092.5(COL4A4):c.1389del (p.Asn464fs)deletion Pathogenic 635494 2:227954654-227954654 2:227089938-227089938
4 COL4A4 NM_000092.5(COL4A4):c.1221del (p.Pro409fs)deletion Pathogenic 635526 2:227958989-227958989 2:227094273-227094273
5 COL4A3 NM_000091.5(COL4A3):c.2162del (p.Gly721fs)deletion Pathogenic 635447 2:228144543-228144543 2:227279827-227279827
6 COL4A3 NM_000091.4(COL4A3):c.3266G>A (p.Gly1089Asp)SNV Pathogenic 635506 2:228157962-228157962 2:227293246-227293246
7 COL4A3 NM_000091.4(COL4A3):c.3575G>A (p.Gly1192Glu)SNV Pathogenic 635543 2:228162399-228162399 2:227297683-227297683
8 COL4A3 NM_000091.5(COL4A3):c.3580del (p.Arg1194fs)deletion Pathogenic 635508 2:228162404-228162404 2:227297688-227297688
9 COL4A3 NM_000091.4(COL4A3):c.3813del (p.Ser1272fs)deletion Pathogenic 599079 rs1559914770 2:228163457-228163457 2:227298741-227298741
10 COL4A3 NM_000091.4(COL4A3):c.3230G>A (p.Gly1077Asp)SNV Pathogenic 599139 rs1559909384 2:228157926-228157926 2:227293210-227293210
11 COL4A4 NM_000092.4(COL4A4):c.1221_1237del (p.Gly408fs)deletion Pathogenic 599148 rs1559606445 2:227958973-227958989 2:227094257-227094273
12 COL4A4 NM_000092.4(COL4A4):c.4820del (p.Ala1607fs)deletion Pathogenic 599086 rs1559394354 2:227872294-227872294 2:227007578-227007578
13 COL4A3 NM_000091.4(COL4A3):c.3109C>T (p.Arg1037Ter)SNV Pathogenic 554110 rs766900945 2:228155501-228155501 2:227290785-227290785
14 COL4A4 NM_000092.4(COL4A4):c.2969-1G>CSNV Pathogenic 522543 rs1553639043 2:227915875-227915875 2:227051159-227051159
15 COL4A4 NM_000092.4(COL4A4):c.3834dup (p.Gly1279fs)duplication Pathogenic 522537 rs1553625684 2:227895297-227895298 2:227030581-227030582
16 COL4A3 NM_000091.4(COL4A3):c.3244_3247delAAAGshort repeat Pathogenic 369965 rs1057516204 2:228157935-228157938 2:227293219-227293222
17 COL4A3 NM_000091.4(COL4A3):c.2083G>A (p.Gly695Arg)SNV Pathogenic 369964 rs200287952 2:228142227-228142227 2:227277511-227277511
18 COL4A3 COL4A3, IVS21DS, G-A, -1SNV Pathogenic 17491
19 COL4A3 NM_000091.4(COL4A3):c.4441C>T (p.Arg1481Ter)SNV Pathogenic 17484 rs121912824 2:228172614-228172614 2:227307898-227307898
20 COL4A4 NM_000092.4(COL4A4):c.4129C>T (p.Arg1377Ter)SNV Pathogenic 17407 rs121912861 2:227886851-227886851 2:227022135-227022135
21 COL4A3 NM_000091.4(COL4A3):c.4474A>T (p.Ser1492Cys)SNV Pathogenic 224788 rs1057519377 2:228173626-228173626 2:227308910-227308910
22 COL4A3 NM_000091.4(COL4A3):c.4382C>T (p.Pro1461Leu)SNV Pathogenic 224787 rs760462252 2:228172555-228172555 2:227307839-227307839
23 COL4A3 NM_000091.4(COL4A3):c.998G>C (p.Gly333Ala)SNV Pathogenic 224786 rs1057519376 2:228122329-228122329 2:227257613-227257613
24 COL4A4 NM_000092.4(COL4A4):c.1321_1369+3deldeletion Pathogenic 242441 rs1553676221 2:227958838-227958889 2:227094122-227094173
25 COL4A3 NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg)SNV Pathogenic/Likely pathogenic 17492 rs267606745 2:228159760-228159760 2:227295044-227295044
26 COL4A3 NM_000091.4(COL4A3):c.2371C>T (p.Arg791Ter)SNV Pathogenic/Likely pathogenic 397514 rs1060499654 2:228145303-228145303 2:227280587-227280587
27 COL4A3 NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup)duplication Pathogenic/Likely pathogenic 438655 rs1175052474 2:228160011-228160012 2:227295295-227295296
28 COL4A3 NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter)SNV Pathogenic/Likely pathogenic 558496 rs1346138010 2:228111404-228111404 2:227246688-227246688
29 COL4A3 NM_000091.4(COL4A3):c.898G>A (p.Gly300Arg)SNV Pathogenic/Likely pathogenic 562427 rs772708743 2:228120751-228120751 2:227256035-227256035
30 COL4A4 NM_000092.4(COL4A4):c.903dup (p.Gly302fs)duplication Likely pathogenic 599227 rs1559628183 2:227967531-227967532 2:227102815-227102816
31 COL4A3 NM_000091.4(COL4A3):c.764C>T (p.Thr255Met)SNV Likely pathogenic 626216 rs573527081 2:228118353-228118353 2:227253637-227253637
32 COL4A3 NM_000091.4(COL4A3):c.2981G>A (p.Gly994Asp)SNV Likely pathogenic 635347 2:228154715-228154715 2:227289999-227289999
33 COL4A4 NM_000092.4(COL4A4):c.4858G>A (p.Gly1620Ser)SNV Likely pathogenic 635420 2:227872256-227872256 2:227007540-227007540
34 COL4A3 NM_000091.4(COL4A3):c.833dup (p.Pro279fs)duplication Likely pathogenic 225321 rs1363680371 2:228119375-228119376 2:227254659-227254660
35 COL4A3 NM_000091.4(COL4A3):c.3629G>A (p.Gly1210Glu)SNV Likely pathogenic 635510 2:228162453-228162453 2:227297737-227297737
36 COL4A4 NM_000092.4(COL4A4):c.755G>T (p.Gly252Val)SNV Likely pathogenic 635513 2:227968749-227968749 2:227104033-227104033
37 COL4A4 NM_000092.4(COL4A4):c.1424G>T (p.Gly475Val)SNV Likely pathogenic 599080 rs1559594442 2:227954619-227954619 2:227089903-227089903
38 COL4A4 NM_000092.4(COL4A4):c.596G>T (p.Gly199Val)SNV Likely pathogenic 599121 rs1559646395 2:227974001-227974001 2:227109285-227109285
39 COL4A4 NM_000092.4(COL4A4):c.693G>A (p.Lys231=)SNV Likely pathogenic 599147 rs1559644463 2:227973549-227973549 2:227108833-227108833
40 COL4A4 NM_000092.4(COL4A4):c.941G>T (p.Gly314Val)SNV Likely pathogenic 599175 rs1005389790 2:227966615-227966615 2:227101899-227101899
41 COL4A4 NM_000092.4(COL4A4):c.1030-1G>CSNV Likely pathogenic 599162 rs1559620132 2:227964406-227964406 2:227099690-227099690
42 COL4A3 NM_000091.4(COL4A3):c.2284G>C (p.Gly762Arg)SNV Likely pathogenic 599176 rs983885088 2:228145216-228145216 2:227280500-227280500
43 COL4A3 NM_000091.4(COL4A3):c.2002G>C (p.Gly668Arg)SNV Likely pathogenic 599112 rs1559890352 2:228141175-228141175 2:227276459-227276459
44 COL4A4 NM_000092.4(COL4A4):c.481G>C (p.Gly161Arg)SNV Likely pathogenic 635444 2:227983369-227983369 2:227118653-227118653
45 COL4A3 NM_000091.4(COL4A3):c.725G>A (p.Gly242Glu)SNV Likely pathogenic 635538 2:228118314-228118314 2:227253598-227253598
46 COL4A3 NM_000091.4(COL4A3):c.1594G>T (p.Gly532Cys)SNV Likely pathogenic 635483 2:228135504-228135504 2:227270788-227270788
47 COL4A3 NM_000091.4(COL4A3):c.343G>A (p.Gly115Arg)SNV Likely pathogenic 599069 rs202147112 2:228110688-228110688 2:227245972-227245972
48 COL4A4 NM_000092.4(COL4A4):c.1828G>A (p.Gly610Ser)SNV Likely pathogenic 599174 rs1559563525 2:227942769-227942769 2:227078053-227078053
49 COL4A4 NM_000092.4(COL4A4):c.1907G>A (p.Gly636Asp)SNV Likely pathogenic 599137 rs1559563141 2:227942690-227942690 2:227077974-227077974
50 COL4A4 NM_000092.4(COL4A4):c.4599T>G (p.Tyr1533Ter)SNV Likely pathogenic 557279 rs369922627 2:227872944-227872944 2:227008228-227008228

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 9.16 COL4A4 COL4A3
2 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.96 COL4A4 COL4A3
3 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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