MCID: ATS018
MIFTS: 40

Autosomal Recessive Alport Syndrome

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

Aliases & Classifications for Autosomal Recessive Alport Syndrome

MalaCards integrated aliases for Autosomal Recessive Alport Syndrome:

Name: Autosomal Recessive Alport Syndrome 12 52 15
Alport Syndrome, Autosomal Recessive 29 54 6
Alport Syndrome Autosomal Recessive 52
Alport Syndrome Recessive Type 52
Nephropathy and Deafness 52

Classifications:



External Ids:

Disease Ontology 12 DOID:0110033

Summaries for Autosomal Recessive Alport Syndrome

NIH Rare Diseases : 52 Autosomal recessive 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. About 15 percent of Alport syndrome cases are inherited in an autosomal recessive pattern and are caused by mutations in both copies of the COL4A3 or COL4A4 genes . Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed.

MalaCards based summary : Autosomal Recessive Alport Syndrome, also known as alport syndrome, autosomal recessive, is related to alport syndrome 2, autosomal recessive and alport syndrome 3, autosomal dominant. An important gene associated with Autosomal Recessive Alport Syndrome is COL4A4 (Collagen Type IV Alpha 4 Chain), and among its related pathways/superpathways are Developmental Biology and Integrin Pathway. Affiliated tissues include kidney and eye, and related phenotypes are homeostasis/metabolism and cardiovascular system

Disease Ontology : 12 An Alport syndrome that has material -basis in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q.

Related Diseases for Autosomal Recessive 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 Recessive Alport Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 alport syndrome 2, autosomal recessive 33.3 COL4A4 COL4A3
2 alport syndrome 3, autosomal dominant 32.5 COL4A4 COL4A3
3 alport syndrome 31.3 MYH9 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
4 alport syndrome 1, x-linked 30.6 COL4A5 COL4A4
5 end stage renal failure 30.6 NPHS2 MYH9 COL4A5
6 hematuria, benign familial 30.4 COL4A5 COL4A4 COL4A3
7 chronic kidney disease 29.9 NPHS2 MYH9 COL4A5 COL4A4
8 x-linked alport syndrome 29.8 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
9 kidney disease 29.5 NPHS2 MYH9 COL4A5 COL4A4 COL4A3 COL4A1
10 focal segmental glomerulosclerosis 29.3 NPHS2 MYH9 COL4A5 COL4A4 COL4A3 AGRN
11 glomerulonephritis 28.9 NPHS2 MYH9 COL4A5 COL4A4 COL4A3 CFHR5
12 branchiootic syndrome 1 10.5
13 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
14 sensorineural hearing loss 10.4
15 x-linked alport syndrome-diffuse leiomyomatosis 10.4 COL4A6 COL4A5
16 malignant cylindroma 10.4 COL4A5 COL4A1
17 digenic disease 10.4 COL4A5 COL4A3
18 autosomal recessive disease 10.3
19 glomerular disease 10.3 NPHS2 COL4A5
20 anti-basement membrane glomerulonephritis 10.2 COL4A5 COL4A4 COL4A3
21 familial nephrotic syndrome 10.2 NPHS2 COL4A3
22 acute proliferative glomerulonephritis 10.2 NPHS2 COL4A3
23 nail-patella syndrome 10.2 NPHS2 COL4A4 COL4A3
24 familial porencephaly 10.1 COL4A2 COL4A1
25 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 10.1 COL4A2 COL4A1
26 congenital syphilis 10.1 NPHS2 MYH9
27 col4a1-related familial vascular leukoencephalopathy 10.1 COL4A2 COL4A1
28 leiomyomatosis 10.1 COL4A6 COL4A5 COL4A4 COL4A3
29 macrocephaly/megalencephaly syndrome, autosomal recessive 10.0
30 mucopolysaccharidosis, type vii 10.0
31 hypertensive retinopathy 10.0
32 nephrotic syndrome 10.0
33 iga glomerulonephritis 10.0
34 megalencephaly 10.0
35 goodpasture syndrome 10.0 COL4A5 COL4A4 COL4A3 CERT1
36 genetic steroid-resistant nephrotic syndrome 10.0 NPHS2 COL4A3
37 diffuse mesangial sclerosis 10.0 NPHS2 AGRN
38 hemorrhage, intracerebral 9.9 COL4A2 COL4A1
39 abcd syndrome 9.9 MYH9 COL4A2 COL4A1
40 autosomal dominant alport syndrome 9.9 COL4A5 COL4A4 COL4A3 COL4A1 CERT1
41 hyperprolinemia, type i 9.8
42 hyperprolinemia 9.8
43 keratoconus 9.7 COL4A4 COL4A3 COL4A1
44 porencephaly 9.7 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
45 pierson syndrome 9.6 NPHS2 COL4A5 COL4A4 COL4A3 AGRN
46 walker-warburg syndrome 9.5 COL4A2 COL4A1 AGRN

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



Diseases related to Autosomal Recessive Alport Syndrome

Symptoms & Phenotypes for Autosomal Recessive Alport Syndrome

MGI Mouse Phenotypes related to Autosomal Recessive Alport Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 AGRN CERT1 COL4A1 COL4A2 COL4A3 COL4A4
2 cardiovascular system MP:0005385 9.97 AGRN CERT1 COL4A1 COL4A2 COL4A3 COL4A5
3 mortality/aging MP:0010768 9.93 AGRN CERT1 COL4A1 COL4A2 COL4A3 COL4A4
4 hearing/vestibular/ear MP:0005377 9.72 CERT1 COL4A2 COL4A3 COL4A4 MYH9
5 renal/urinary system MP:0005367 9.5 AGRN COL4A1 COL4A3 COL4A4 COL4A5 MYH9
6 vision/eye MP:0005391 9.28 CERT1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5

Drugs & Therapeutics for Autosomal Recessive Alport Syndrome

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

Genetic Tests for Autosomal Recessive Alport Syndrome

Genetic tests related to Autosomal Recessive Alport Syndrome:

# Genetic test Affiliating Genes
1 Alport Syndrome, Autosomal Recessive 29 COL4A3 COL4A4

Anatomical Context for Autosomal Recessive Alport Syndrome

MalaCards organs/tissues related to Autosomal Recessive Alport Syndrome:

40
Kidney, Eye

Publications for Autosomal Recessive Alport Syndrome

Articles related to Autosomal Recessive Alport Syndrome:

(show top 50) (show all 74)
# Title Authors PMID Year
1
Novel COL4A3 mutations in African American siblings with autosomal recessive Alport syndrome. 54 61
18436078 2008
2
Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases. 54 61
17216251 2007
3
A novel mutation of COL4A3 presents a different contribution to Alport syndrome and thin basement membrane nephropathy. 54 61
17726307 2007
4
Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. 54 61
15954103 2005
5
Mutations in the COL4A4 gene in thin basement membrane disease. 54 61
12631110 2003
6
Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome. 54 61
12325029 2002
7
Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. 54 61
10499074 1999
8
Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. 54 61
9792860 1998
9
Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). 54 61
9269635 1997
10
Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome. 54 61
7633417 1995
11
Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis. 54 61
7780062 1995
12
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. 54 61
7987301 1994
13
Successful renal transplantation in a family with a novel mutation in COL4A3 gene and autosomal recessive Alport syndrome. 61
31925849 2020
14
Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report. 61
31686460 2019
15
[Clinical and genetic diagnosis of a pedigree affected with autosomal recessive Alport syndrome]. 61
31515789 2019
16
Increased microvascular disease in X-linked and autosomal recessive Alport syndrome: a case control cross sectional observational study. 61
30985254 2019
17
Features of Autosomal Recessive Alport Syndrome: A Systematic Review. 61
30717457 2019
18
Autosomal Recessive Alport Syndrome Unveiled by Pregnancy. 61
31408864 2019
19
A novel mutation in a Chinese family with autosomal recessive Alport syndrome: a case report. 61
31934206 2019
20
Bilateral giant macular holes: A rare manifestation of Alport syndrome. 61
29873249 2019
21
A unique evolution of the kidney phenotype in a patient with autosomal recessive Alport syndrome. 61
29530752 2018
22
Pathogenicity of a Human Laminin β2 Mutation Revealed in Models of Alport Syndrome. 61
29263159 2018
23
The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family. 61
29742505 2018
24
Identification of a Novel COL4A4 Variant in Compound-Heterozygous State in a Patient With Alport Syndrome and Histological Findings Similar to Focal Segmental Glomerulosclerosis (FSGS). 61
30745910 2018
25
Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS). 61
29246570 2017
26
Familial hematuria: A review. 61
28236514 2017
27
Early RAAS Blockade Exerts Renoprotective Effects in Autosomal Recessive Alport Syndrome. 61
27904025 2016
28
Alport Syndrome in Women and Girls. 61
27287265 2016
29
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome. 61
27281700 2016
30
COL4A6 is dispensable for autosomal recessive Alport syndrome. 61
27377778 2016
31
Alport syndrome and pregnancy: Good obstetric and nephrological outcomes in a pregnant woman with homozygous autosomal recessive Alport syndrome. 61
26628290 2016
32
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations. 61
27627812 2016
33
[A case of autosomal recessive Alport syndrome with nephrotic syndrome as initial symptom]. 61
26757974 2015
34
Novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome. 61
26194984 2015
35
Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life. 61
26201269 2015
36
Progression of Alport Kidney Disease in Col4a3 Knock Out Mice Is Independent of Sex or Macrophage Depletion by Clodronate Treatment. 61
26555339 2015
37
Natural history of genetically proven autosomal recessive Alport syndrome. 61
24633401 2014
38
A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population. 61
23927549 2014
39
[Comparison of phenotypic features between patients with X-linked and autosomal recessive Alport syndrome]. 61
24743828 2014
40
Clinical and genetic features in autosomal recessive and X-linked Alport syndrome. 61
24178893 2014
41
A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy. 61
27081500 2014
42
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. 61
24052634 2013
43
Renal transplantations from parents to siblings with autosomal recessive Alport syndrome caused by a rearrangement in an intronic antisense Alu element in the COL4A3 gene led to different outcomes. 61
28509228 2013
44
A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family. 61
23297803 2013
45
Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome. 61
22887978 2012
46
Longitudinal evaluation of FGF23 changes and mineral metabolism abnormalities in a mouse model of chronic kidney disease. 61
22031097 2012
47
Retinal basement membrane abnormalities and the retinopathy of Alport syndrome. 61
19850830 2010
48
Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis. 61
19357112 2009
49
Alport syndrome and thin glomerular basement membrane nephropathy: a practical approach to diagnosis. 61
19195966 2009
50
[Approaches to detect the gene mutations in autosomal recessive Alport's syndrome: analysis of a family]. 61
18649777 2008

Variations for Autosomal Recessive Alport Syndrome

ClinVar genetic disease variations for Autosomal Recessive Alport Syndrome:

6 (show top 50) (show all 261) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL4A3 NM_000091.4(COL4A3):c.40_63del (p.Leu14_Leu21del)deletion Pathogenic 192299 rs876657397 2:228029472-228029495 2:227164756-227164779
2 COL4A4 NM_000092.4(COL4A4):c.1321_1369+3deldeletion Pathogenic 242441 rs1553676221 2:227958838-227958889 2:227094122-227094173
3 COL4A4 NM_000092.4(COL4A4):c.3601G>A (p.Gly1201Ser)SNV Pathogenic 17404 rs121912858 2:227896969-227896969 2:227032253-227032253
4 COL4A4 NM_000092.4(COL4A4):c.3713C>A (p.Ser1238Ter)SNV Pathogenic 17405 rs121912859 2:227896765-227896765 2:227032049-227032049
5 COL4A4 NM_000092.4(COL4A4):c.4129C>T (p.Arg1377Ter)SNV Pathogenic 17407 rs121912861 2:227886851-227886851 2:227022135-227022135
6 COL4A4 NM_000092.4(COL4A4):c.4923C>A (p.Cys1641Ter)SNV Pathogenic 17408 rs121912862 2:227872191-227872191 2:227007475-227007475
7 COL4A3 COL4A3, 5-BP DEL, NT4414deletion Pathogenic 17483
8 COL4A3 NM_000091.4(COL4A3):c.4441C>T (p.Arg1481Ter)SNV Pathogenic 17484 rs121912824 2:228172614-228172614 2:227307898-227307898
9 COL4A3 COL4A3, ALU INS, EX6insertion Pathogenic 17488
10 COL4A3 NM_000091.4(COL4A3):c.3955G>A (p.Gly1319Arg)SNV Pathogenic 373896 rs765661521 2:228167826-228167826 2:227303110-227303110
11 COL4A3 NM_000091.4(COL4A3):c.1175G>A (p.Gly392Glu)SNV Pathogenic 427770 rs1114167371 2:228128520-228128520 2:227263804-227263804
12 COL4A4 NM_000092.4(COL4A4):c.2638_2639del (p.Ala880fs)deletion Pathogenic 441259 rs1553641611 2:227920738-227920739 2:227056022-227056023
13 COL4A4 NM_000092.4(COL4A4):c.1396G>A (p.Gly466Arg)SNV Pathogenic 447180 rs201859109 2:227954647-227954647 2:227089931-227089931
14 COL4A4 NM_000092.4(COL4A4):c.1118G>A (p.Gly373Glu)SNV Pathogenic 447179 rs755649235 2:227963496-227963496 2:227098780-227098780
15 COL4A3 NM_000091.4(COL4A3):c.2452G>A (p.Gly818Arg)SNV Pathogenic 447169 rs868002181 2:228145686-228145686 2:227280970-227280970
16 COL4A3 NM_000091.4(COL4A3):c.4825C>T (p.Arg1609Ter)SNV Pathogenic 447174 rs756231749 2:228175561-228175561 2:227310845-227310845
17 COL4A4 NM_000092.4(COL4A4):c.2906C>G (p.Ser969Ter)SNV Pathogenic 449549 rs35138315 2:227917083-227917083 2:227052367-227052367
18 COL4A3 NM_000091.4(COL4A3):c.1216C>T (p.Arg406Ter)SNV Pathogenic 495548 rs371334239 2:228128561-228128561 2:227263845-227263845
19 COL4A4 NM_000092.4(COL4A4):c.4694_4713del (p.Arg1565fs)deletion Pathogenic 522488 rs1553612433 2:227872830-227872849 2:227008114-227008133
20 COL4A4 NM_000092.4(COL4A4):c.2638del (p.Ala880fs)deletion Pathogenic 550471 rs778043831 2:227920739-227920739 2:227056023-227056023
21 COL4A4 NM_000092.4(COL4A4):c.1598G>A (p.Gly533Asp)SNV Pathogenic 556434 rs1553669704 2:227953394-227953394 2:227088678-227088678
22 COL4A3 NM_000091.4(COL4A3):c.345del (p.Pro116fs)deletion Pathogenic 554004 rs749390823 2:228110688-228110688 2:227245972-227245972
23 COL4A3 NM_000091.4(COL4A3):c.4347_4353del (p.Arg1450fs)deletion Pathogenic 550302 rs748026887 2:228172517-228172523 2:227307801-227307807
24 COL4A3 NM_000091.4(COL4A3):c.2621_2622delinsT (p.Gly874fs)indel Pathogenic 551951 rs1553760257 2:228147213-228147214 2:227282497-227282498
25 COL4A3 NM_000091.4(COL4A3):c.2768_2778del (p.Val923fs)deletion Pathogenic 551819 rs766306957 2:228148946-228148956 2:227284230-227284240
26 COL4A3 NM_000091.4(COL4A3):c.3109C>T (p.Arg1037Ter)SNV Pathogenic 554110 rs766900945 2:228155501-228155501 2:227290785-227290785
27 COL4A3 NM_000091.4(COL4A3):c.2023_2030ATCCCTGG[3] (p.Gly680fs)short repeat Pathogenic 555966 rs1553758893 2:228142166-228142167 2:227277450-227277451
28 COL4A3 NM_000091.4(COL4A3):c.4420_4424del5short repeat Pathogenic 556032 rs1445615417 2:228172584-228172588 2:227307868-227307872
29 COL4A3 NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter)SNV Pathogenic 807562 2:228029470-228029470 2:227164754-227164754
30 COL4A3 NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter)SNV Pathogenic 807563 2:228110696-228110696 2:227245980-227245980
31 COL4A3 NM_000091.5(COL4A3):c.816dup (p.Pro273fs)duplication Pathogenic 807564 2:228118877-228118878 2:227254161-227254162
32 COL4A3 NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg)SNV Pathogenic 807567 2:228137737-228137737 2:227273021-227273021
33 COL4A3 NM_000091.5(COL4A3):c.2746+1G>TSNV Pathogenic 807389 2:228148573-228148573 2:227283857-227283857
34 COL4A3 NM_000091.5(COL4A3):c.2747-1G>TSNV Pathogenic 807390 2:228148926-228148926 2:227284210-227284210
35 COL4A4 NM_000092.4(COL4A4):c.3861delinsCTC (p.Arg1288fs)indel Pathogenic/Likely pathogenic 634651 2:227895271-227895271 2:227030555-227030555
36 COL4A3 NM_000091.4(COL4A3):c.2417dup (p.Gly807fs)duplication Pathogenic/Likely pathogenic 552236 rs1440033157 2:228145646-228145647 2:227280930-227280931
37 COL4A3 NM_000091.4(COL4A3):c.4793T>G (p.Leu1598Arg)SNV Pathogenic/Likely pathogenic 550745 rs752452590 2:228175529-228175529 2:227310813-227310813
38 COL4A4 NM_000092.4(COL4A4):c.2878G>A (p.Gly960Arg)SNV Pathogenic/Likely pathogenic 550472 rs769783985 2:227917111-227917111 2:227052395-227052395
39 COL4A3 NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter)SNV Pathogenic/Likely pathogenic 558496 rs1346138010 2:228111404-228111404 2:227246688-227246688
40 COL4A3 NM_000091.4(COL4A3):c.2371C>T (p.Arg791Ter)SNV Pathogenic/Likely pathogenic 397514 rs1060499654 2:228145303-228145303 2:227280587-227280587
41 COL4A3 NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg)SNV Pathogenic/Likely pathogenic 17492 rs267606745 2:228159760-228159760 2:227295044-227295044
42 COL4A4 NM_000092.4(COL4A4):c.2690G>A (p.Gly897Glu)SNV Pathogenic/Likely pathogenic 17406 rs121912860 2:227920687-227920687 2:227055971-227055971
43 COL4A4 NM_000092.4(COL4A4):c.2320G>C (p.Gly774Arg)SNV Likely pathogenic 242442 rs569681869 2:227924184-227924184 2:227059468-227059468
44 COL4A3 NM_000091.4(COL4A3):c.833dup (p.Pro279fs)duplication Likely pathogenic 225321 rs1363680371 2:228119375-228119376 2:227254659-227254660
45 COL4A3 NM_000091.4(COL4A3):c.4571C>G (p.Ser1524Ter)SNV Likely pathogenic 17485 rs121912825 2:228173723-228173723 2:227309007-227309007
46 COL4A4 NM_000092.4(COL4A4):c.446G>T (p.Gly149Val)SNV Likely pathogenic 369941 rs374815903 2:227983404-227983404 2:227118688-227118688
47 COL4A3 NM_000091.4(COL4A3):c.1918G>A (p.Gly640Arg)SNV Likely pathogenic 371669 rs200672668 2:228137824-228137824 2:227273108-227273108
48 COL4A3 NM_000091.4(COL4A3):c.2215G>A (p.Gly739Arg)SNV Likely pathogenic 371670 rs375040636 2:228144598-228144598 2:227279882-227279882
49 COL4A4 NM_000092.4(COL4A4):c.3574_3577+8deldeletion Likely pathogenic 438673 rs1553627655 2:227898118-227898129 2:227033402-227033413
50 COL4A4 NM_000092.4(COL4A4):c.3089G>A (p.Gly1030Asp)SNV Likely pathogenic 438699 rs772699709 2:227915754-227915754 2:227051038-227051038

Expression for Autosomal Recessive Alport Syndrome

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

Pathways for Autosomal Recessive Alport Syndrome

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.35 MYH9 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
2
Show member pathways
13.27 MYH9 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
3
Show member pathways
12.95 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
4
Show member pathways
12.93 MYH9 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
5
Show member pathways
12.89 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
6
Show member pathways
12.81 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
7
Show member pathways
12.75 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
8 12.74 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
9
Show member pathways
12.69 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
10
Show member pathways
12.58 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
11
Show member pathways
12.58 MYH9 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
12
Show member pathways
12.06 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
13 11.94 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
14 11.91 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
15 11.84 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
16 11.71 NPHS2 MYH9 COL4A5 COL4A4 COL4A3 AGRN
17 11.52 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
18 11.32 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
19 11.03 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
20 10.94 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
21 10.67 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1 AGRN

GO Terms for Autosomal Recessive Alport Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.01 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
2 extracellular space GO:0005615 9.98 H2BS1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
3 endoplasmic reticulum lumen GO:0005788 9.85 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
4 extracellular matrix GO:0031012 9.8 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
5 collagen-containing extracellular matrix GO:0062023 9.8 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
6 basement membrane GO:0005604 9.7 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
7 collagen trimer GO:0005581 9.5 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 Recessive Alport Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.5 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
2 neuromuscular junction development GO:0007528 9.33 COL4A5 COL4A1 AGRN
3 glomerular basement membrane development GO:0032836 9.26 COL4A4 COL4A3
4 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.5 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1

Sources for Autosomal Recessive Alport Syndrome

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
Content
Loading form....