MCID: ATS015
MIFTS: 35

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 54 15
Renal Failure and Sensorineural Hearing Loss 54
Alport Syndrome Dominant Type 54

Classifications:



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Disease Ontology 12 DOID:0110032

Summaries for Autosomal Dominant Alport Syndrome

NIH Rare Diseases : 54 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 renal failure and sensorineural hearing loss, is related to alport syndrome 3, autosomal dominant and alport syndrome. An important gene associated with Autosomal Dominant Alport Syndrome is COL4A3 (Collagen Type IV Alpha 3 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 immune system

Disease Ontology : 12 An Alport syndrome that has_material -basis_in heterozygous mutation in the COL4A3 gene.

Related Diseases for Autosomal Dominant Alport Syndrome

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.87 AGPS COL4A1 COL4A3 COL4A3BP COL4A4 COL4A5
2 immune system MP:0005387 9.73 COL4A1 COL4A3 COL4A4 COL4A5 IGBP1 MYH9
3 hearing/vestibular/ear MP:0005377 9.71 COL4A3 COL4A3BP COL4A4 MYH9
4 mortality/aging MP:0010768 9.7 AGPS COL4A1 COL4A3 COL4A3BP COL4A4 COL4A5
5 hematopoietic system MP:0005397 9.67 COL4A1 COL4A5 IGBP1 MYH9
6 renal/urinary system MP:0005367 9.35 COL4A1 COL4A3 COL4A4 COL4A5 MYH9
7 vision/eye MP:0005391 9.17 AGPS COL4A1 COL4A3 COL4A3BP COL4A4 COL4A5

Drugs & Therapeutics for Autosomal Dominant Alport Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Alport Syndrome Treatments and Outcomes Registry Recruiting NCT00481130

Search 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:

42
Kidney, Eye

Publications for Autosomal Dominant Alport Syndrome

Articles related to Autosomal Dominant Alport Syndrome:

(show all 18)
# Title Authors Year
1
Should We Diagnose Autosomal Dominant Alport Syndrome When There Is a Pathogenic Heterozygous COL4A3 or COL4A4 Variant? ( 30450445 )
2018
2
Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family. ( 28674241 )
2017
3
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome. ( 27281700 )
2016
4
Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing. ( 27934798 )
2016
5
A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers. ( 25450602 )
2015
6
Study of the True Clinical Progression of Autosomal Dominant Alport Syndrome in a European Population. ( 26277931 )
2015
7
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. ( 24033287 )
2014
8
COL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome. ( 25755845 )
2014
9
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. ( 19129241 )
2009
10
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. ( 15086897 )
2004
11
Correlation of histopathological features and renal impairment in autosomal dominant Alport syndrome in Bull terriers. ( 12401844 )
2002
12
A novel model of autosomal dominant Alport syndrome in Dalmatian dogs. ( 12454218 )
2002
13
Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia. ( 11572889 )
2001
14
Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. ( 11044206 )
2000
15
Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties. ( 11135492 )
2000
16
Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13. ( 10577925 )
1999
17
Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). ( 9269635 )
1997
18
Bull terrier hereditary nephritis: a model for autosomal dominant Alport syndrome. ( 7752574 )
1995

Variations for Autosomal Dominant Alport Syndrome

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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 COL4A1 COL4A3 COL4A4 COL4A5 MYH9
2
Show member pathways
13.11 COL4A1 COL4A3 COL4A4 COL4A5 MYH9
3
Show member pathways
12.79 COL4A1 COL4A3 COL4A4 COL4A5
4
Show member pathways
12.77 COL4A1 COL4A3 COL4A4 COL4A5 MYH9
5
Show member pathways
12.76 COL4A1 COL4A3 COL4A4 COL4A5
6
Show member pathways
12.72 COL4A1 COL4A3 COL4A4 COL4A5
7
Show member pathways
12.64 COL4A1 COL4A3 COL4A4 COL4A5
8 12.57 COL4A1 COL4A3 COL4A4 COL4A5
9
Show member pathways
12.56 COL4A1 COL4A3 COL4A4 COL4A5
10
Show member pathways
12.48 COL4A1 COL4A3 COL4A4 COL4A5
11
Show member pathways
12.41 COL4A1 COL4A3 COL4A4 COL4A5 MYH9
12
Show member pathways
12 COL4A1 COL4A3 COL4A4 COL4A5 MYH9
13
Show member pathways
11.97 COL4A1 COL4A3 COL4A4 COL4A5
14 11.73 COL4A1 COL4A3 COL4A4 COL4A5
15 11.69 COL4A1 COL4A3 COL4A4 COL4A5
16 11.64 COL4A1 COL4A3 COL4A4 COL4A5
17 11.49 COL4A3 COL4A4 COL4A5 MYH9
18 11.34 COL4A1 COL4A3 COL4A4 COL4A5
19 11.15 COL4A1 COL4A3 COL4A4 COL4A5
20 10.86 COL4A1 COL4A3 COL4A4 COL4A5
21 10.76 COL4A1 COL4A3 COL4A4 COL4A5
22 10.49 COL4A1 COL4A3 COL4A4 COL4A5

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 matrix GO:0031012 9.62 COL4A1 COL4A3 COL4A4 COL4A5
2 endoplasmic reticulum lumen GO:0005788 9.56 COL4A1 COL4A3 COL4A4 COL4A5
3 collagen-containing extracellular matrix GO:0062023 9.54 COL4A1 COL4A3 COL4A5
4 basement membrane GO:0005604 9.46 COL4A1 COL4A3 COL4A4 COL4A5
5 neuromuscular junction GO:0031594 9.4 COL4A5 MYH9
6 collagen trimer GO:0005581 9.35 COL4A1 COL4A3 COL4A3BP COL4A4 COL4A5
7 collagen type IV trimer GO:0005587 8.92 COL4A1 COL4A3 COL4A4 COL4A5

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

# Name GO ID Score Top Affiliating Genes
1 neuromuscular junction development GO:0007528 9.26 COL4A1 COL4A5
2 extracellular matrix organization GO:0030198 9.26 COL4A1 COL4A3 COL4A4 COL4A5
3 glomerular basement membrane development GO:0032836 9.16 COL4A3 COL4A4
4 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.8 COL4A1 COL4A3 COL4A5

Molecular functions related to Autosomal Dominant 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 9.13 COL4A1 COL4A3 COL4A5
2 extracellular matrix structural constituent GO:0005201 8.92 COL4A1 COL4A3 COL4A4 COL4A5

Sources for Autosomal Dominant 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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