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 53 15
Alport Syndrome, Autosomal Recessive 29 55 6
Alport Syndrome Autosomal Recessive 53
Alport Syndrome Recessive Type 53
Nephropathy and Deafness 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0110033

Summaries for Autosomal Recessive Alport Syndrome

NIH Rare Diseases : 53 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 glomerulonephritis and hematuria, benign familial. 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 mortality/aging and normal

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 30)
# Related Disease Score Top Affiliating Genes
1 glomerulonephritis 30.3 COL4A5 COL4A4 COL4A3
2 hematuria, benign familial 30.3 COL4A5 COL4A4 COL4A3
3 focal segmental glomerulosclerosis 29.5 MYH9 COL4A5 COL4A4 COL4A3
4 kidney disease 28.9 MYH9 LMX1B COL4A5 COL4A4 COL4A3
5 alport syndrome 2, autosomal recessive 11.9
6 alport syndrome 11.7
7 alport syndrome 3, autosomal dominant 11.3
8 end stage renal failure 10.5
9 branchiootic syndrome 1 10.4
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
11 x-linked alport syndrome 10.4
12 sensorineural hearing loss 10.4
13 autosomal recessive disease 10.3
14 basement membrane disease 10.2
15 anti-basement membrane glomerulonephritis 10.2 COL4A5 COL4A4 COL4A3
16 malignant cylindroma 10.1 COL4A5 COL4A1
17 goodpasture syndrome 10.1 COL4A5 COL4A4 COL4A3
18 corneal dystrophy, posterior polymorphous, 3 10.1 COL4A4 COL4A3 COL4A1
19 mucopolysaccharidosis, type vii 10.0
20 alport syndrome 1, x-linked 10.0
21 hypertensive retinopathy 10.0
22 nephrotic syndrome 10.0
23 iga glomerulonephritis 10.0
24 chronic kidney disease 10.0
25 leiomyomatosis 9.9 COL4A6 COL4A5 COL4A4 COL4A3
26 inner ear disease 9.9 MYH9 COL4A5
27 nail-patella syndrome 9.8 LMX1B COL4A4
28 hyperprolinemia, type i 9.8
29 hyperprolinemia 9.8
30 germ cell and embryonal cancer 9.7 LIN28A KLF4

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.91 COL4A1 COL4A3 COL4A4 COL4A5 KLF4 LIN28A
2 normal MP:0002873 9.63 COL4A6 KLF4 LIN28A LMX1B MYCL MYH9
3 renal/urinary system MP:0005367 9.43 COL4A1 COL4A3 COL4A4 COL4A5 LMX1B MYH9
4 vision/eye MP:0005391 9.17 COL4A1 COL4A3 COL4A4 COL4A5 KLF4 LMX1B

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:

41
Kidney, Eye

Publications for Autosomal Recessive Alport Syndrome

Articles related to Autosomal Recessive Alport Syndrome:

(show top 50) (show all 70)
# Title Authors PMID Year
1
Novel COL4A3 mutations in African American siblings with autosomal recessive Alport syndrome. 9 38
18436078 2008
2
Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases. 9 38
17216251 2007
3
A novel mutation of COL4A3 presents a different contribution to Alport syndrome and thin basement membrane nephropathy. 9 38
17726307 2007
4
Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. 9 38
15954103 2005
5
Mutations in the COL4A4 gene in thin basement membrane disease. 9 38
12631110 2003
6
Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome. 9 38
12325029 2002
7
Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. 9 38
10499074 1999
8
Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. 9 38
9792860 1998
9
Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). 9 38
9269635 1997
10
Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome. 9 38
7633417 1995
11
Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis. 9 38
7780062 1995
12
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. 9 38
7987301 1994
13
Autosomal Recessive Alport Syndrome Unveiled by Pregnancy. 38
31408864 2019
14
Increased microvascular disease in X-linked and autosomal recessive Alport syndrome: a case control cross sectional observational study. 38
30985254 2019
15
Features of Autosomal Recessive Alport Syndrome: A Systematic Review. 38
30717457 2019
16
Bilateral giant macular holes: A rare manifestation of Alport syndrome. 38
29873249 2019
17
A unique evolution of the kidney phenotype in a patient with autosomal recessive Alport syndrome. 38
29530752 2018
18
Pathogenicity of a Human Laminin β2 Mutation Revealed in Models of Alport Syndrome. 38
29263159 2018
19
The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family. 38
29742505 2018
20
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). 38
30745910 2018
21
Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS). 38
29246570 2017
22
Familial hematuria: A review. 38
28236514 2017
23
Early RAAS Blockade Exerts Renoprotective Effects in Autosomal Recessive Alport Syndrome. 38
27904025 2016
24
Alport Syndrome in Women and Girls. 38
27287265 2016
25
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome. 38
27281700 2016
26
COL4A6 is dispensable for autosomal recessive Alport syndrome. 38
27377778 2016
27
Alport syndrome and pregnancy: Good obstetric and nephrological outcomes in a pregnant woman with homozygous autosomal recessive Alport syndrome. 38
26628290 2016
28
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations. 38
27627812 2016
29
[A case of autosomal recessive Alport syndrome with nephrotic syndrome as initial symptom]. 38
26757974 2015
30
Novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome. 38
26194984 2015
31
Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life. 38
26201269 2015
32
Progression of Alport Kidney Disease in Col4a3 Knock Out Mice Is Independent of Sex or Macrophage Depletion by Clodronate Treatment. 38
26555339 2015
33
Natural history of genetically proven autosomal recessive Alport syndrome. 38
24633401 2014
34
A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population. 38
23927549 2014
35
[Comparison of phenotypic features between patients with X-linked and autosomal recessive Alport syndrome]. 38
24743828 2014
36
Clinical and genetic features in autosomal recessive and X-linked Alport syndrome. 38
24178893 2014
37
A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy. 38
27081500 2014
38
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. 38
24052634 2013
39
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. 38
28509228 2013
40
A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family. 38
23297803 2013
41
Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome. 38
22887978 2012
42
Longitudinal evaluation of FGF23 changes and mineral metabolism abnormalities in a mouse model of chronic kidney disease. 38
22031097 2012
43
Retinal basement membrane abnormalities and the retinopathy of Alport syndrome. 38
19850830 2010
44
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. 38
19357112 2009
45
Alport syndrome and thin glomerular basement membrane nephropathy: a practical approach to diagnosis. 38
19195966 2009
46
[Approaches to detect the gene mutations in autosomal recessive Alport's syndrome: analysis of a family]. 38
18649777 2008
47
Choosing a mouse model to study the molecular pathobiology of Alport glomerulonephritis. 38
17290292 2007
48
Autoepitopes and alloepitopes of type IV collagen: role in the molecular pathogenesis of anti-GBM antibody glomerulonephritis. 38
17570938 2007
49
Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome. 38
17071739 2007
50
Alport syndrome and thin basement membrane nephropathy. 38
17570934 2007

Variations for Autosomal Recessive Alport Syndrome

ClinVar genetic disease variations for Autosomal Recessive Alport Syndrome:

6 (show top 50) (show all 244)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL4A3 NM_000091.4(COL4A3): c.3955G> A (p.Gly1319Arg) single nucleotide variant Pathogenic rs765661521 2:228167826-228167826 2:227303110-227303110
2 COL4A3 NM_000091.4(COL4A3): c.1175G> A (p.Gly392Glu) single nucleotide variant Pathogenic rs1114167371 2:228128520-228128520 2:227263804-227263804
3 COL4A4 NM_000092.4(COL4A4): c.2638_2639del (p.Ala880fs) deletion Pathogenic rs1553641611 2:227920738-227920739 2:227056022-227056023
4 COL4A3 NM_000091.4(COL4A3): c.2452G> A (p.Gly818Arg) single nucleotide variant Pathogenic rs868002181 2:228145686-228145686 2:227280970-227280970
5 COL4A4 NM_000092.4(COL4A4): c.2906C> G (p.Ser969Ter) single nucleotide variant Pathogenic rs35138315 2:227917083-227917083 2:227052367-227052367
6 COL4A4 NM_000092.4(COL4A4): c.2638del (p.Ala880fs) deletion Pathogenic rs778043831 2:227920738-227920739 2:227056023-227056023
7 COL4A4 NM_000092.4(COL4A4): c.4694_4713del (p.Arg1565fs) deletion Pathogenic rs1553612433 2:227872830-227872849 2:227008114-227008133
8 COL4A4 NM_000092.4(COL4A4): c.1598G> A (p.Gly533Asp) single nucleotide variant Pathogenic rs1553669704 2:227953394-227953394 2:227088678-227088678
9 COL4A3 NM_000091.4(COL4A3): c.345del (p.Pro116fs) deletion Pathogenic rs749390823 2:228110687-228110688 2:227245974-227245974
10 COL4A3 NM_000091.4(COL4A3): c.4347_4353del (p.Arg1450fs) deletion Pathogenic rs748026887 2:228172516-228172523 2:227307804-227307810
11 COL4A3 NM_000091.4(COL4A3): c.2621_2622delinsT (p.Gly874fs) indel Pathogenic rs1553760257 2:228147212-228147214 2:227282497-227282498
12 COL4A3 NM_000091.4(COL4A3): c.2768_2778del (p.Val923fs) deletion Pathogenic rs766306957 2:228148945-228148956 2:227284232-227284242
13 COL4A3 NM_000091.4(COL4A3): c.3109C> T (p.Arg1037Ter) single nucleotide variant Pathogenic rs766900945 2:228155501-228155501 2:227290785-227290785
14 COL4A3 NM_000091.4(COL4A3): c.2023_2030ATCCCTGG[3] (p.Gly680fs) short repeat Pathogenic rs1553758893 2:228142166-228142166 2:227277459-227277466
15 COL4A3 NM_000091.4(COL4A3): c.4415_4419CTTTT[1] (p.Leu1474fs) short repeat Pathogenic rs1445615417 2:228172583-228172588 2:227307877-227307881
16 COL4A4 NM_000092.4(COL4A4): c.3601G> A (p.Gly1201Ser) single nucleotide variant Pathogenic rs121912858 2:227896969-227896969 2:227032253-227032253
17 COL4A4 NM_000092.4(COL4A4): c.3713C> A (p.Ser1238Ter) single nucleotide variant Pathogenic rs121912859 2:227896765-227896765 2:227032049-227032049
18 COL4A4 NM_000092.4(COL4A4): c.4129C> T (p.Arg1377Ter) single nucleotide variant Pathogenic rs121912861 2:227886851-227886851 2:227022135-227022135
19 COL4A4 NM_000092.4(COL4A4): c.4923C> A (p.Cys1641Ter) single nucleotide variant Pathogenic rs121912862 2:227872191-227872191 2:227007475-227007475
20 COL4A4 NM_000092.4(COL4A4): c.4715C> T (p.Pro1572Leu) single nucleotide variant Pathogenic rs121912863 2:227872828-227872828 2:227008112-227008112
21 COL4A3 COL4A3, 5-BP DEL, NT4414 deletion 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 COL4A3, ALU INS, EX6 insertion Pathogenic
24 COL4A3 NM_000091.4(COL4A3): c.40_63del (p.Leu14_Leu21del) deletion Pathogenic rs876657397 2:228029482-228029505 2:227164766-227164789
25 COL4A3 NM_000091.4(COL4A3): c.3499G> A (p.Gly1167Arg) single nucleotide variant Pathogenic/Likely pathogenic rs267606745 2:228159760-228159760 2:227295044-227295044
26 COL4A4 NM_000092.4(COL4A4): c.2690G> A (p.Gly897Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121912860 2:227920687-227920687 2:227055971-227055971
27 COL4A3 NM_000091.4(COL4A3): c.4793T> G (p.Leu1598Arg) single nucleotide variant Pathogenic/Likely pathogenic rs752452590 2:228175529-228175529 2:227310813-227310813
28 COL4A4 NM_000092.4(COL4A4): c.2878G> A (p.Gly960Arg) single nucleotide variant Pathogenic/Likely pathogenic rs769783985 2:227917111-227917111 2:227052395-227052395
29 COL4A3 NM_000091.4(COL4A3): c.391G> T (p.Glu131Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1346138010 2:228111404-228111404 2:227246688-227246688
30 COL4A3 NM_000091.4(COL4A3): c.1216C> T (p.Arg406Ter) single nucleotide variant Pathogenic/Likely pathogenic rs371334239 2:228128561-228128561 2:227263845-227263845
31 COL4A3 NM_000091.4(COL4A3): c.4825C> T (p.Arg1609Ter) single nucleotide variant Pathogenic/Likely pathogenic rs756231749 2:228175561-228175561 2:227310845-227310845
32 COL4A4 NM_000092.4(COL4A4): c.1118G> A (p.Gly373Glu) single nucleotide variant Pathogenic/Likely pathogenic rs755649235 2:227963496-227963496 2:227098780-227098780
33 COL4A3 NM_000091.4(COL4A3): c.2371C> T (p.Arg791Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1060499654 2:228145303-228145303 2:227280587-227280587
34 COL4A4 NM_000092.4(COL4A4): c.446G> T (p.Gly149Val) single nucleotide variant Likely pathogenic rs374815903 2:227983404-227983404 2:227118688-227118688
35 COL4A3 NM_000091.4(COL4A3): c.1918G> A (p.Gly640Arg) single nucleotide variant Likely pathogenic rs200672668 2:228137824-228137824 2:227273108-227273108
36 COL4A3 NM_000091.4(COL4A3): c.2215G> A (p.Gly739Arg) single nucleotide variant Likely pathogenic rs375040636 2:228144598-228144598 2:227279882-227279882
37 COL4A4 NM_000092.4(COL4A4): c.3574_3577+8del deletion Likely pathogenic rs1553627655 2:227898118-227898129 2:227033402-227033413
38 COL4A4 NM_000092.4(COL4A4): c.871-1G> C single nucleotide variant Likely pathogenic rs375450996 2:227967565-227967565 2:227102849-227102849
39 COL4A3 NM_000091.4(COL4A3): c.1372G> C (p.Gly458Arg) single nucleotide variant Likely pathogenic rs757341933 2:228131189-228131189 2:227266473-227266473
40 COL4A4 NM_000092.4(COL4A4): c.3089G> A (p.Gly1030Asp) single nucleotide variant Likely pathogenic rs772699709 2:227915754-227915754 2:227051038-227051038
41 COL4A4 NM_000092.4(COL4A4): c.2662G> A (p.Gly888Arg) single nucleotide variant Likely pathogenic rs1363277825 2:227920715-227920715 2:227055999-227055999
42 COL4A4 NM_000092.4(COL4A4): c.594+1G> A single nucleotide variant Likely pathogenic rs1553690565 2:227976393-227976393 2:227111677-227111677
43 COL4A4 NM_000092.4(COL4A4): c.4809+1G> A single nucleotide variant Likely pathogenic rs1553612309 2:227872733-227872733 2:227008017-227008017
44 COL4A4 NM_000092.4(COL4A4): c.4760del (p.Pro1587fs) deletion Likely pathogenic rs1206142672 2:227872782-227872783 2:227008067-227008067
45 COL4A4 NM_000092.4(COL4A4): c.4599T> G (p.Tyr1533Ter) single nucleotide variant Likely pathogenic rs369922627 2:227872944-227872944 2:227008228-227008228
46 COL4A4 NM_000092.4(COL4A4): c.2546-1G> C single nucleotide variant Likely pathogenic rs1553641728 2:227920832-227920832 2:227056116-227056116
47 COL4A4 NM_000092.4(COL4A4): c.2374G> A (p.Gly792Arg) single nucleotide variant Likely pathogenic rs768003309 2:227924130-227924130 2:227059414-227059414
48 COL4A4 NM_000092.4(COL4A4): c.2279dup (p.Asp761fs) duplication Likely pathogenic rs1553643669 2:227924225-227924225 2:227059509-227059509
49 COL4A4 NM_000092.4(COL4A4): c.2242G> A (p.Gly748Ser) single nucleotide variant Likely pathogenic rs762139460 2:227924262-227924262 2:227059546-227059546
50 COL4A4 NM_000092.4(COL4A4): c.2084G> A (p.Gly695Asp) single nucleotide variant Likely pathogenic rs1553644402 2:227924932-227924932 2:227060216-227060216

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 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.31 MYH9 LIN28A KLF4 COL4A5 COL4A4 COL4A3
2
Show member pathways
13.22 MYH9 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
3
Show member pathways
12.89 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
4
Show member pathways
12.86 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
5
Show member pathways
12.85 MYH9 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
6
Show member pathways
12.82 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
7
Show member pathways
12.74 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
8 12.67 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
9
Show member pathways
12.66 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
10
Show member pathways
12.58 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
11
Show member pathways
12.51 MYH9 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
12
Show member pathways
12.08 MYH9 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
13
Show member pathways
12.05 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
14 11.8 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
15 11.77 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
16 11.68 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
17 11.52 MYH9 LMX1B COL4A5 COL4A4 COL4A3
18 11.34 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
19
Show member pathways
11.3 LIN28A KLF4
20 11.3 COL4A5 COL4A4 COL4A3 COL4A1
21 11.04 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
22 10.87 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
23 10.62 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1

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 matrix GO:0031012 9.72 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
2 collagen-containing extracellular matrix GO:0062023 9.67 COL4A6 COL4A5 COL4A3 COL4A1
3 endoplasmic reticulum lumen GO:0005788 9.65 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
4 basement membrane GO:0005604 9.55 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
5 collagen trimer GO:0005581 9.35 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
6 collagen type IV trimer GO:0005587 9.02 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1

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

# Name GO ID Score Top Affiliating Genes
1 stem cell population maintenance GO:0019827 9.4 LIN28A KLF4
2 cellular response to amino acid stimulus GO:0071230 9.37 COL4A6 COL4A1
3 extracellular matrix organization GO:0030198 9.35 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
4 somatic stem cell population maintenance GO:0035019 9.32 LIN28A KLF4
5 neuromuscular junction development GO:0007528 9.26 COL4A5 COL4A1
6 glomerular basement membrane development GO:0032836 9.16 COL4A4 COL4A3
7 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.92 COL4A6 COL4A5 COL4A3 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 9.35 COL4A6 COL4A5 COL4A4 COL4A3 COL4A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.92 COL4A6 COL4A5 COL4A3 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 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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