MCID: ATS015
MIFTS: 39

Autosomal Dominant Alport Syndrome

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

Aliases & Classifications for Autosomal Dominant Alport Syndrome

MalaCards integrated aliases for Autosomal Dominant Alport Syndrome:

Name: Autosomal Dominant Alport Syndrome 12 20 15
Alport Syndrome, Autosomal Dominant 54 70
Alport Syndrome Dominant Type 20 6
Renal Failure and Sensorineural Hearing Loss 20
Syndrome, Alport, Autosomal Dominant 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0110032
UMLS 70 C1567743

Summaries for Autosomal Dominant Alport Syndrome

GARD : 20 Autosomal dominant 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. Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell.

MalaCards based summary : Autosomal Dominant Alport Syndrome, also known as alport syndrome, autosomal dominant, is related to alport syndrome 3, autosomal dominant and alport syndrome 2, autosomal recessive. An important gene associated with Autosomal Dominant Alport Syndrome is COL4A3 (Collagen Type IV Alpha 3 Chain), and among its related pathways/superpathways are ERK Signaling and Developmental Biology. Affiliated tissues include eye, kidney and brain, and related phenotypes are hematopoietic system and hearing/vestibular/ear

Disease Ontology : 12 An Alport syndrome that has material -basis in heterozygous mutation in the COL4A3 gene.

Related Diseases for Autosomal Dominant Alport Syndrome

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 Autosomal Dominant Alport Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 alport syndrome 3, autosomal dominant 32.2 MFF-DT COL4A4 COL4A3
2 alport syndrome 2, autosomal recessive 30.8 MFF-DT COL4A4 COL4A3
3 alport syndrome 1, x-linked 30.4 COL4A5 COL4A4
4 x-linked alport syndrome 30.0 MYH9 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
5 proteinuria, chronic benign 29.7 NPHS2 MFF-DT COL4A5 COL4A4 COL4A3
6 end stage renal disease 29.6 NPHS2 MYH9 COL4A5 COL4A4 COL4A3 CFHR5
7 glomerulonephritis 29.2 NPHS2 MYH9 COL4A5 COL4A4 COL4A3 CFHR5
8 autosomal recessive alport syndrome 29.1 NPHS2 MYH9 MFF-DT COL4A6 COL4A5 COL4A4
9 alport syndrome 28.0 NPHS2 MYO1E MYH9 MFF-DT IGBP1 COL4A6
10 branchiootic syndrome 1 10.4
11 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
12 sensorineural hearing loss 10.3
13 x-linked alport syndrome-diffuse leiomyomatosis 10.3 COL4A6 COL4A5
14 irregular astigmatism 10.3 COL4A4 COL4A3
15 corneal dystrophy, posterior polymorphous, 3 10.2 COL4A4 COL4A3
16 xia-gibbs syndrome 10.2 COL4A5 COL4A4
17 malignant cylindroma 10.2 COL4A5 COL4A1
18 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 10.2
19 rapidly progressive glomerulonephritis 10.2 COL4A4 COL4A3
20 anti-basement membrane glomerulonephritis 10.1 COL4A5 COL4A4 COL4A3
21 x-linked nonsyndromic deafness 10.1 COL4A6 COL4A5
22 autoimmune disease of urogenital tract 10.1 COL4A5 COL4A4 COL4A3
23 goodpasture syndrome 10.1 COL4A5 COL4A4 COL4A3
24 acute proliferative glomerulonephritis 10.1 NPHS2 COL4A3
25 hereditary hearing loss and deafness 10.1 MFF-DT ESPN COL4A3
26 digenic disease 10.1 COL4A5 COL4A3
27 hypercholesterolemia, familial, 1 10.0
28 autosomal recessive disease 10.0
29 corneal dystrophy 10.0
30 nail-patella syndrome 10.0 NPHS2 COL4A4 COL4A3
31 stickler syndrome 10.0 MFF-DT COL4A5 COL4A4 COL4A3
32 leiomyomatosis 10.0 COL4A6 COL4A5 COL4A4 COL4A3
33 pierson syndrome 9.9 NPHS2 COL4A5 COL4A4 COL4A3
34 acquired porencephaly 9.9 COL4A2 COL4A1
35 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 9.9 COL4A2 COL4A1
36 brain small vessel disease 1 with or without ocular anomalies 9.9 COL4A2 COL4A1
37 col4a1-related familial vascular leukoencephalopathy 9.9 COL4A2 COL4A1
38 focal segmental glomerulosclerosis 1 9.9 NPHS2 MYO1E COL4A5
39 retinal arteries, tortuosity of 9.8 COL4A2 COL4A1
40 genetic steroid-resistant nephrotic syndrome 9.8 NPHS2 MYO1E COL4A3
41 hemorrhage, intracerebral 9.8 COL4A2 COL4A1
42 usher syndrome, type i 9.8 MYO1E ESPN COL4A5
43 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.7 COL4A2 COL4A1
44 familial nephrotic syndrome 9.6 NPHS2 MYO1E COL4A5 COL4A4 COL4A3
45 keratoconus 9.6 COL4A4 COL4A3 COL4A2 COL4A1
46 familial porencephaly 9.6 COL4A2 COL4A1
47 focal segmental glomerulosclerosis 9.5 NPHS2 MYO1E MYH9 COL4A5 COL4A4 COL4A3
48 chronic kidney disease 9.4 NPHS2 MYH9 COL4A5 COL4A4 COL4A3 CFHR5
49 porencephaly 9.4 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
50 nephrotic syndrome 9.3 NPHS2 MYO1E MYH9 MFF-DT COL4A5 COL4A4

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



Diseases related to Autosomal Dominant Alport Syndrome

Symptoms & Phenotypes for Autosomal Dominant Alport Syndrome

MGI Mouse Phenotypes related to Autosomal Dominant Alport Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.61 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 ESPN
2 hearing/vestibular/ear MP:0005377 9.55 COL4A2 COL4A3 COL4A4 ESPN MYH9
3 renal/urinary system MP:0005367 9.23 COL4A1 COL4A3 COL4A4 COL4A5 MYH9 MYO1E

Drugs & Therapeutics for Autosomal Dominant Alport Syndrome

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

Genetic Tests for Autosomal Dominant Alport Syndrome

Anatomical Context for Autosomal Dominant Alport Syndrome

MalaCards organs/tissues related to Autosomal Dominant Alport Syndrome:

40
Eye, Kidney, Brain

Publications for Autosomal Dominant Alport Syndrome

Articles related to Autosomal Dominant Alport Syndrome:

(show all 36)
# Title Authors PMID Year
1
Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. 6 54 61
11044206 2000
2
Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). 6 54 61
9269635 1997
3
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
4
Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees. 6
30828794 2019
5
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. 6
11134255 2001
6
The clinical spectrum of type IV collagen mutations. 6
9195222 1997
7
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. 61 54
19129241 2009
8
Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020. 61
33159213 2021
9
Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused by COL4A3 or COL4A4 mutations: a systematic review. 61
33391746 2020
10
How genomics reclassifies diseases: the case of Alport syndrome. 61
33391736 2020
11
How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants? Discussion and suggestions from nephrologists. 61
32232700 2020
12
Autosomal dominant Alport syndrome due to a COL4A4 mutation with an additional ESPN variant detected by whole-exome analysis. 61
31677115 2020
13
Glomerular Basement Membrane Protein Expression and the Diagnosis and Prognosis of Autosomal Dominant Alport Syndrome. 61
32734219 2019
14
Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation. 61
31477057 2019
15
Should We Diagnose Autosomal Dominant Alport Syndrome When There Is a Pathogenic Heterozygous COL4A3 or COL4A4 Variant? 61
30450445 2018
16
Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically. 61
28704582 2018
17
Three Novel Heterozygous COL4A4 Mutations Result in Three Different Collagen Type IV Kidney Disease Phenotypes. 61
29669314 2018
18
The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family. 61
29742505 2018
19
Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene. 61
29089023 2017
20
Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family. 61
28674241 2017
21
Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing. 61
27934798 2016
22
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome. 61
27281700 2016
23
A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers. 61
25450602 2015
24
Study of the True Clinical Progression of Autosomal Dominant Alport Syndrome in a European Population. 61
26277931 2015
25
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. 61
24033287 2014
26
COL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome. 61
25755845 2014
27
Nephrotic-range proteinuria in an infant with thin basement membrane nephropathy. 61
28509291 2013
28
Alport syndrome and thin basement membrane nephropathy. 61
17570934 2007
29
[Collagen IV (alpha3-alpha4) nephropathy]. 61
16050399 2005
30
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. 61
15086897 2004
31
A novel model of autosomal dominant Alport syndrome in Dalmatian dogs. 61
12454218 2002
32
Correlation of histopathological features and renal impairment in autosomal dominant Alport syndrome in Bull terriers. 61
12401844 2002
33
Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia. 61
11572889 2001
34
Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties. 61
11135492 2000
35
Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13. 61
10577925 1999
36
Bull terrier hereditary nephritis: a model for autosomal dominant Alport syndrome. 61
7752574 1995

Variations for Autosomal Dominant Alport Syndrome

ClinVar genetic disease variations for Autosomal Dominant Alport Syndrome:

6 (show top 50) (show all 217)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL4A3 COL4A3, IVS21DS, G-A, -1 SNV Pathogenic 17491 GRCh37:
GRCh38:
2 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.4382C>T (p.Pro1461Leu) SNV Pathogenic 224787 rs760462252 GRCh37: 2:228172555-228172555
GRCh38: 2:227307839-227307839
3 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.4474A>T (p.Ser1492Cys) SNV Pathogenic 224788 rs1057519377 GRCh37: 2:228173626-228173626
GRCh38: 2:227308910-227308910
4 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.998G>C (p.Gly333Ala) SNV Pathogenic 224786 rs1057519376 GRCh37: 2:228122329-228122329
GRCh38: 2:227257613-227257613
5 COL4A4 NM_000092.5(COL4A4):c.2969-1G>C SNV Pathogenic 522543 rs1553639043 GRCh37: 2:227915875-227915875
GRCh38: 2:227051159-227051159
6 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.3813del (p.Ser1272fs) Deletion Pathogenic 599079 rs1559914770 GRCh37: 2:228163457-228163457
GRCh38: 2:227298741-227298741
7 COL4A4 NM_000092.4(COL4A4):c.4820del (p.Ala1607fs) Deletion Pathogenic 599086 rs1559394354 GRCh37: 2:227872294-227872294
GRCh38: 2:227007578-227007578
8 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.3230G>A (p.Gly1077Asp) SNV Pathogenic 599139 rs1559909384 GRCh37: 2:228157926-228157926
GRCh38: 2:227293210-227293210
9 COL4A4 NM_000092.4(COL4A4):c.1221_1237del (p.Gly408fs) Deletion Pathogenic 599148 rs1559606445 GRCh37: 2:227958973-227958989
GRCh38: 2:227094257-227094273
10 COL4A4 NM_000092.4(COL4A4):c.4599T>G (p.Tyr1533Ter) SNV Pathogenic 557279 rs369922627 GRCh37: 2:227872944-227872944
GRCh38: 2:227008228-227008228
11 COL4A4 NM_000092.4(COL4A4):c.2878G>A (p.Gly960Arg) SNV Pathogenic 550472 rs769783985 GRCh37: 2:227917111-227917111
GRCh38: 2:227052395-227052395
12 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.4235G>T (p.Gly1412Val) SNV Pathogenic 870362 GRCh37: 2:228169782-228169782
GRCh38: 2:227305066-227305066
13 COL4A4 NM_000092.5(COL4A4):c.1389del (p.Asn464fs) Deletion Pathogenic 635494 rs1576428862 GRCh37: 2:227954654-227954654
GRCh38: 2:227089938-227089938
14 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.3266G>A (p.Gly1089Asp) SNV Pathogenic 635506 rs1574813382 GRCh37: 2:228157962-228157962
GRCh38: 2:227293246-227293246
15 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.3580del (p.Arg1194fs) Deletion Pathogenic 635508 rs1574823188 GRCh37: 2:228162404-228162404
GRCh38: 2:227297688-227297688
16 COL4A4 NM_000092.5(COL4A4):c.1221del (p.Pro409fs) Deletion Pathogenic 635526 rs1576457876 GRCh37: 2:227958989-227958989
GRCh38: 2:227094273-227094273
17 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.3575G>A (p.Gly1192Glu) SNV Pathogenic 635543 rs1574823172 GRCh37: 2:228162399-228162399
GRCh38: 2:227297683-227297683
18 COL4A4 NM_000092.5(COL4A4):c.2171del (p.Arg724fs) Deletion Pathogenic 635547 rs1576207007 GRCh37: 2:227924333-227924333
GRCh38: 2:227059617-227059617
19 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.142A>T (p.Lys48Ter) SNV Pathogenic 829844 rs1207493576 GRCh37: 2:228102738-228102738
GRCh38: 2:227238022-227238022
20 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.1505-2A>C SNV Pathogenic 829845 rs1247804051 GRCh37: 2:228134624-228134624
GRCh38: 2:227269908-227269908
21 COL4A4 NM_000092.5(COL4A4):c.192+1_192+2delinsTGATGTA Indel Pathogenic 829857 rs1576812577 GRCh37: 2:228004875-228004876
GRCh38: 2:227140159-227140160
22 COL4A4 NM_000092.5(COL4A4):c.4522G>A (p.Gly1508Ser) SNV Pathogenic 829920 rs1003748020 GRCh37: 2:227875029-227875029
GRCh38: 2:227010313-227010313
23 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.3013_3038del (p.Pro1005fs) Deletion Pathogenic 829933 rs1574803208 GRCh37: 2:228154745-228154770
GRCh38: 2:227290029-227290054
24 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.1559G>A (p.Gly520Asp) SNV Pathogenic 830011 rs1574745989 GRCh37: 2:228134680-228134680
GRCh38: 2:227269964-227269964
25 COL4A4 NM_000092.4(COL4A4):c.3834dup (p.Gly1279fs) Duplication Pathogenic 522537 rs1553625684 GRCh37: 2:227895297-227895298
GRCh38: 2:227030581-227030582
26 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.4803del (p.Gly1602fs) Deletion Pathogenic 550931 rs760846085 GRCh37: 2:228175539-228175539
GRCh38: 2:227310823-227310823
27 COL4A4 NM_000092.4(COL4A4):c.4460_4463dup (p.Trp1488fs) Duplication Pathogenic 635509 rs1575714693 GRCh37: 2:227875087-227875088
GRCh38: 2:227010371-227010372
28 COL4A4 NM_000092.5(COL4A4):c.4624_4627TGGC[1] (p.Leu1543fs) Microsatellite Pathogenic 829937 rs1575696646 GRCh37: 2:227872912-227872915
GRCh38: 2:227008196-227008199
29 COL4A4 NM_000092.5(COL4A4):c.678_682dup (p.Pro228fs) Duplication Pathogenic 830016 rs1576571835 GRCh37: 2:227973559-227973560
GRCh38: 2:227108843-227108844
30 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.3244_3247delAAAG Microsatellite Pathogenic 369965 rs1057516204 GRCh37: 2:228157935-228157938
GRCh38: 2:227293219-227293222
31 COL4A4 NM_000092.4(COL4A4):c.755G>T (p.Gly252Val) SNV Pathogenic 635513 rs760795817 GRCh37: 2:227968749-227968749
GRCh38: 2:227104033-227104033
32 COL4A4 NM_000092.5(COL4A4):c.4808T>C (p.Met1603Thr) SNV Pathogenic 992382 GRCh37: 2:227872735-227872735
GRCh38: 2:227008019-227008019
33 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.3109C>T (p.Arg1037Ter) SNV Pathogenic 554110 rs766900945 GRCh37: 2:228155501-228155501
GRCh38: 2:227290785-227290785
34 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter) SNV Pathogenic 558496 rs1346138010 GRCh37: 2:228111404-228111404
GRCh38: 2:227246688-227246688
35 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.1855G>A (p.Gly619Arg) SNV Pathogenic 522482 rs773515249 GRCh37: 2:228137761-228137761
GRCh38: 2:227273045-227273045
36 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.2417dup (p.Gly807fs) Duplication Pathogenic 552236 rs1440033157 GRCh37: 2:228145646-228145647
GRCh38: 2:227280930-227280931
37 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.324+2T>C SNV Pathogenic 1031386 GRCh37: 2:228109713-228109713
GRCh38: 2:227244997-227244997
38 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.2371C>T SNV Pathogenic 397514 rs1060499654 GRCh37: 2:228145303-228145303
GRCh38: 2:227280587-227280587
39 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.2987_2993del (p.Arg996fs) Deletion Pathogenic 974466 GRCh37: 2:228154720-228154726
GRCh38: 2:227290004-227290010
40 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.663_664del (p.Arg221fs) Microsatellite Pathogenic 553434 rs1469479748 GRCh37: 2:228118027-228118028
GRCh38: 2:227253311-227253312
41 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg) SNV Pathogenic 17492 rs267606745 GRCh37: 2:228159760-228159760
GRCh38: 2:227295044-227295044
42 COL4A4 NM_000092.4(COL4A4):c.1321_1369+3del Deletion Pathogenic 242441 rs1553676221 GRCh37: 2:227958838-227958889
GRCh38: 2:227094122-227094173
43 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.898G>A (p.Gly300Arg) SNV Pathogenic 562427 rs772708743 GRCh37: 2:228120751-228120751
GRCh38: 2:227256035-227256035
44 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.443G>T (p.Gly148Val) SNV Pathogenic 551046 rs775373641 GRCh37: 2:228112275-228112275
GRCh38: 2:227247559-227247559
45 COL4A4 NM_000092.4(COL4A4):c.4129C>T (p.Arg1377Ter) SNV Pathogenic 17407 rs121912861 GRCh37: 2:227886851-227886851
GRCh38: 2:227022135-227022135
46 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.4441C>T (p.Arg1481Ter) SNV Pathogenic 17484 rs121912824 GRCh37: 2:228172614-228172614
GRCh38: 2:227307898-227307898
47 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.345del Deletion Pathogenic 554004 rs749390823 GRCh37: 2:228110688-228110688
GRCh38: 2:227245972-227245972
48 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.3829G>A SNV Pathogenic 555905 rs190598500 GRCh37: 2:228163475-228163475
GRCh38: 2:227298759-227298759
49 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.2083G>A (p.Gly695Arg) SNV Pathogenic 369964 rs200287952 GRCh37: 2:228142227-228142227
GRCh38: 2:227277511-227277511
50 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup) Duplication Pathogenic 438655 rs1175052474 GRCh37: 2:228160011-228160012
GRCh38: 2:227295295-227295296

Expression for Autosomal Dominant Alport Syndrome

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

Pathways for Autosomal Dominant Alport Syndrome

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

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 MYO1E MYH9 COL4A6 COL4A5 COL4A4 COL4A3
2
Show member pathways
13.29 MYH9 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
3
Show member pathways
13.28 MYO1E MYH9 COL4A6 COL4A5 COL4A4 COL4A3
4
Show member pathways
12.96 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
5
Show member pathways
12.92 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
6
Show member pathways
12.92 MYH9 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
7
Show member pathways
12.89 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
8
Show member pathways
12.81 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
9
Show member pathways
12.76 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
10 12.73 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
11
Show member pathways
12.63 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
12
Show member pathways
12.56 MYH9 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
13
Show member pathways
12.15 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
14 11.89 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
15 11.85 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
16 11.76 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
17 11.6 NPHS2 MYO1E MYH9 COL4A5 COL4A4 COL4A3
18 11.42 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
19 11.4 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
20 11.24 COL4A2 COL4A1
21 11.12 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
22 10.94 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
23 10.7 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1

GO Terms for Autosomal Dominant Alport Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.98 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
2 collagen-containing extracellular matrix GO:0062023 9.85 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
3 endoplasmic reticulum lumen GO:0005788 9.8 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
4 extracellular matrix GO:0031012 9.73 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
5 basement membrane GO:0005604 9.63 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
6 brush border GO:0005903 9.58 MYO1E MYH9 ESPN
7 collagen trimer GO:0005581 9.43 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
8 collagen type IV trimer GO:0005587 9.1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.43 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
2 glomerular basement membrane development GO:0032836 9.33 MYO1E COL4A4 COL4A3
3 neuromuscular junction development GO:0007528 9.32 COL4A5 COL4A1
4 actin filament-based movement GO:0030048 9.26 MYO1E MYH9
5 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.02 COL4A6 COL4A5 COL4A3 COL4A2 COL4A1

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.5 MYO1E MYH9 ESPN
2 extracellular matrix structural constituent GO:0005201 9.43 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
3 microfilament motor activity GO:0000146 9.26 MYO1E MYH9
4 actin-dependent ATPase activity GO:0030898 9.16 MYO1E MYH9
5 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1

Sources for Autosomal Dominant Alport Syndrome

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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