MCID: ATS018
MIFTS: 37

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 54 15
Alport Syndrome Autosomal Recessive 54
Alport Syndrome Recessive Type 54
Nephropathy and Deafness 54

Classifications:



External Ids:

Disease Ontology 12 DOID:0110033

Summaries for Autosomal Recessive Alport Syndrome

NIH Rare Diseases : 54 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 focal segmental glomerulosclerosis and alport syndrome 2, autosomal recessive. 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

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.02 COL4A1 COL4A3 COL4A3BP COL4A4 COL4A5 KLF4
2 cardiovascular system MP:0005385 9.98 COL4A1 COL4A3 COL4A3BP COL4A5 LIN28A LMX1B
3 mortality/aging MP:0010768 9.96 COL4A1 COL4A3 COL4A3BP COL4A4 COL4A5 KLF4
4 immune system MP:0005387 9.87 COL4A1 COL4A3 COL4A4 COL4A5 KLF4 MYCL
5 hematopoietic system MP:0005397 9.8 COL4A1 COL4A5 KLF4 MYCL MYH9
6 normal MP:0002873 9.63 COL4A6 KLF4 LIN28A LMX1B MYCL MYH9
7 renal/urinary system MP:0005367 9.43 COL4A1 COL4A3 COL4A4 COL4A5 LMX1B MYH9
8 vision/eye MP:0005391 9.23 COL4A1 COL4A3 COL4A3BP COL4A4 COL4A5 KLF4

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

Anatomical Context for Autosomal Recessive Alport Syndrome

MalaCards organs/tissues related to Autosomal Recessive Alport Syndrome:

42
Kidney, Eye

Publications for Autosomal Recessive Alport Syndrome

Articles related to Autosomal Recessive Alport Syndrome:

(show all 31)
# Title Authors Year
1
Features of Autosomal Recessive Alport Syndrome: A Systematic Review. ( 30717457 )
2019
2
Increased microvascular disease in X-linked and autosomal recessive Alport syndrome: a case control cross sectional observational study. ( 30985254 )
2019
3
A unique evolution of the kidney phenotype in a patient with autosomal recessive Alport syndrome. ( 29530752 )
2018
4
Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS). ( 29246570 )
2017
5
COL4A6 is dispensable for autosomal recessive Alport syndrome. ( 27377778 )
2016
6
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations. ( 27627812 )
2016
7
Early RAAS Blockade Exerts Renoprotective Effects in Autosomal Recessive Alport Syndrome. ( 27904025 )
2016
8
Alport syndrome and pregnancy: Good obstetric and nephrological outcomes in a pregnant woman with homozygous autosomal recessive Alport syndrome. ( 26628290 )
2016
9
Novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome. ( 26194984 )
2015
10
Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life. ( 26201269 )
2015
11
A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population. ( 23927549 )
2014
12
Natural history of genetically proven autosomal recessive Alport syndrome. ( 24633401 )
2014
13
A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy. ( 27081500 )
2014
14
A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family. ( 23297803 )
2013
15
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. ( 24052634 )
2013
16
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. ( 28509228 )
2013
17
Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome. ( 22887978 )
2012
18
Novel COL4A3 mutations in African American siblings with autosomal recessive Alport syndrome. ( 18436078 )
2008
19
Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome. ( 17071739 )
2007
20
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families. ( 16338941 )
2006
21
Living related kidney transplantation in a patient with autosomal-recessive Alport syndrome. ( 12823249 )
2003
22
Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome. ( 12325029 )
2002
23
Autosomal recessive Alport syndrome: linkage analysis and clinical features in two families. ( 10193810 )
1999
24
A model of autosomal recessive Alport syndrome in English cocker spaniel dogs. ( 9734596 )
1998
25
Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. ( 9792860 )
1998
26
Ocular manifestations of autosomal recessive Alport syndrome. ( 9361309 )
1997
27
Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome. ( 7633417 )
1995
28
Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis. ( 7780062 )
1995
29
Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution. ( 7783412 )
1995
30
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. ( 7987301 )
1994
31
Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. ( 7987396 )
1994

Variations for Autosomal Recessive Alport Syndrome

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
13.3 COL4A1 COL4A3 COL4A4 COL4A5 KLF4 LIN28A
2
Show member pathways
13.22 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 MYH9
3
Show member pathways
12.89 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
4
Show member pathways
12.86 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
5
Show member pathways
12.85 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 MYH9
6
Show member pathways
12.82 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
7
Show member pathways
12.74 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
8 12.68 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
9
Show member pathways
12.66 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
10
Show member pathways
12.58 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
11
Show member pathways
12.51 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 MYH9
12
Show member pathways
12.08 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 MYH9
13
Show member pathways
12.04 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
14 11.8 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
15 11.75 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
16 11.69 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
17 11.52 COL4A3 COL4A4 COL4A5 LMX1B MYH9
18 11.34 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
19
Show member pathways
11.3 KLF4 LIN28A
20 11.3 COL4A1 COL4A3 COL4A4 COL4A5
21 11.04 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
22 10.87 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
23 10.62 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6

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 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
2 collagen-containing extracellular matrix GO:0062023 9.67 COL4A1 COL4A3 COL4A5 COL4A6
3 endoplasmic reticulum lumen GO:0005788 9.65 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
4 basement membrane GO:0005604 9.55 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
5 collagen trimer GO:0005581 9.43 COL4A1 COL4A3 COL4A3BP COL4A4 COL4A5 COL4A6
6 collagen type IV trimer GO:0005587 9.02 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6

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 9.43 KLF4 LIN28A
2 in utero embryonic development GO:0001701 9.43 COL4A3BP LMX1B MYH9
3 cellular response to amino acid stimulus GO:0071230 9.4 COL4A1 COL4A6
4 somatic stem cell population maintenance GO:0035019 9.37 KLF4 LIN28A
5 extracellular matrix organization GO:0030198 9.35 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6
6 neuromuscular junction development GO:0007528 9.32 COL4A1 COL4A5
7 glomerular basement membrane development GO:0032836 9.16 COL4A3 COL4A4
8 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.92 COL4A1 COL4A3 COL4A5 COL4A6

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 conferring tensile strength GO:0030020 9.26 COL4A1 COL4A3 COL4A5 COL4A6
2 extracellular matrix structural constituent GO:0005201 9.02 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6

Sources for Autosomal Recessive Alport Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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