MCID: ALP074
MIFTS: 34

Alport Syndrome, Autosomal Dominant malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Ear diseases, Fetal diseases categories

Aliases & Classifications for Alport Syndrome, Autosomal Dominant

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Sources:
46OMIM, 9diseasecard, 44Novoseek, 61UMLS, 42NIH Rare Diseases, 48Orphanet, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Alport Syndrome, Autosomal Dominant:

Name: Alport Syndrome, Autosomal Dominant 46 9 44 61
Autosomal Dominant Alport Syndrome 42 48 22
 
Renal Failure and Sensorineural Hearing Loss 42
Alport Syndrome Dominant Type 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
autosomal dominant alport syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

OMIM46 104200
Orphanet48 88918
MESH via Orphanet34 C536586
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet62 C1567743, C2931253

Summaries for Alport Syndrome, Autosomal Dominant

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OMIM:46 Alport syndrome classically comprises nephritis, often progressing to renal failure, and sensorineural hearing loss... (104200) more...

MalaCards based summary: Alport Syndrome, Autosomal Dominant, also known as autosomal dominant alport syndrome, is related to alport syndrome and nephritis, and has symptoms including autosomal dominant inheritance, proteinuria and glomerulonephritis. An important gene associated with Alport Syndrome, Autosomal Dominant is COL4A3 (collagen, type IV, alpha 3 (Goodpasture antigen)), and among its related pathways are PI3K-Akt signaling pathway and Pathways in cancer. Affiliated tissues include eye and kidney, and related mouse phenotypes are renal/urinary system and hearing/vestibular/ear.

NIH Rare Diseases:42 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. last updated: 10/24/2011

Related Diseases for Alport Syndrome, Autosomal Dominant

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Diseases in the Alport Syndrome family:

Alport Syndrome, Autosomal Recessive alport syndrome, autosomal dominant

Diseases related to Alport Syndrome, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1alport syndrome30.2COL4A4, COL4A3
2nephritis30.2COL4A4, COL4A3
3fechtner syndrome10.2
4hematuria, benign familial10.0COL4A3, COL4A4
5alport syndrome, autosomal recessive10.0COL4A3, COL4A4
6sensorineural hearing loss9.9COL4A4, COL4A3
7glomerulonephritis9.9COL4A3, COL4A4
8primary hyperoxaluria9.9COL4A4, COL4A3
9proteinuria9.8COL4A4, COL4A3

Graphical network of diseases related to Alport Syndrome, Autosomal Dominant:



Diseases related to alport syndrome, autosomal dominant

Symptoms for Alport Syndrome, Autosomal Dominant

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Symptoms by clinical synopsis from OMIM:

104200

Clinical features from OMIM:

104200

HPO human phenotypes related to Alport Syndrome, Autosomal Dominant:

(show all 17)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 proteinuria HP:0000093
3 glomerulonephritis HP:0000099
4 nephrotic syndrome HP:0000100
5 nephrocalcinosis HP:0000121
6 sensorineural hearing impairment HP:0000407
7 myopia HP:0000545
8 hematuria HP:0000790
9 hypertension HP:0000822
10 anterior polar cataract HP:0001134
11 lenticonus HP:0001142
12 hypophosphatemia HP:0002148
13 azotemia HP:0002157
14 progressive disorder HP:0003676
15 stage 5 chronic kidney disease HP:0003774
16 thickening of the glomerular basement membrane HP:0004722
17 diffuse glomerular basement membrane lamellation HP:0030034

Drugs & Therapeutics for Alport Syndrome, Autosomal Dominant

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Drug clinical trials:

Search ClinicalTrials for Alport Syndrome, Autosomal Dominant

Search NIH Clinical Center for Alport Syndrome, Autosomal Dominant

Genetic Tests for Alport Syndrome, Autosomal Dominant

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Genetic tests related to Alport Syndrome, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Alport Syndrome, Autosomal Dominant22

Anatomical Context for Alport Syndrome, Autosomal Dominant

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MalaCards organs/tissues related to Alport Syndrome, Autosomal Dominant:

31
Eye, Kidney

Animal Models for Alport Syndrome, Autosomal Dominant or affiliated genes

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MGI Mouse Phenotypes related to Alport Syndrome, Autosomal Dominant:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1COL4A4, COL4A3
2MP:00053778.8COL4A4, COL4A3

Publications for Alport Syndrome, Autosomal Dominant

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Variations for Alport Syndrome, Autosomal Dominant

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UniProtKB/Swiss-Prot genetic disease variations for Alport Syndrome, Autosomal Dominant:

63
id Symbol AA change Variation ID SNP ID
1COL4A3p.Gly1167ArgVAR_011211

Clinvar genetic disease variations for Alport Syndrome, Autosomal Dominant:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL4A3COL4A3, IVS21DS, G-A, -1single nucleotide variantPathogenic
2NM_000091.4(COL4A3): c.3499G> A (p.Gly1167Arg)single nucleotide variantPathogenicrs267606745GRCh37Chr 2, 228159760: 228159760

Expression for genes affiliated with Alport Syndrome, Autosomal Dominant

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

Pathways for genes affiliated with Alport Syndrome, Autosomal Dominant

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

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1COL4A4, COL4A3
29.1COL4A3, COL4A4
3
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
9.1COL4A4, COL4A3
4
Show member pathways
9.1COL4A4, COL4A3
5
Show member pathways
9.1COL4A3, COL4A4
6
Show member pathways
9.1COL4A4, COL4A3
7
Show member pathways
9.1COL4A4, COL4A3
8
Show member pathways
9.1COL4A4, COL4A3
9
Show member pathways
9.1COL4A4, COL4A3
10
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility59
Cytoskeleton remodeling Integrin outside in signaling59
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases59
Cell adhesion Tight junctions59
Development MAG dependent inhibition of neurite outgrowth59
9.1COL4A3, COL4A4
11
Show member pathways
9.1COL4A4, COL4A3
12
Show member pathways
9.1COL4A4, COL4A3
139.1COL4A3, COL4A4
149.1COL4A3, COL4A4
159.1COL4A4, COL4A3
169.1COL4A3, COL4A4
179.1COL4A3, COL4A4
18
Show member pathways
Metalloproteases in connective tissue degradation
9.1COL4A4, COL4A3
199.1COL4A4, COL4A3
209.1COL4A4, COL4A3

Compounds for genes affiliated with Alport Syndrome, Autosomal Dominant

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GO Terms for genes affiliated with Alport Syndrome, Autosomal Dominant

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:00057889.1COL4A4, COL4A3
2collagen type IVGO:00055878.8COL4A4, COL4A3

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

idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:00328369.2COL4A4, COL4A3
2collagen catabolic processGO:00305749.1COL4A4, COL4A3
3axon guidanceGO:00074119.1COL4A4, COL4A3
4extracellular matrix disassemblyGO:00226179.0COL4A3, COL4A4
5extracellular matrix organizationGO:00301988.8COL4A4, COL4A3

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.1COL4A4, COL4A3

Sources for Alport Syndrome, Autosomal Dominant

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet