MCID: ATS015
MIFTS: 46

Autosomal Dominant Alport Syndrome malady

Eye diseases, Nephrological diseases, Ear diseases, Fetal diseases categories

Summaries for Autosomal Dominant Alport Syndrome

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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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

MalaCards: Autosomal Dominant Alport Syndrome, also known as alport syndrome, autosomal dominant, is related to alport syndrome and autosomal recessive alport syndrome, and has symptoms including sensorineural deafness/hearing loss, proteinuria and renal failure. An important gene associated with Autosomal Dominant Alport Syndrome is COL4A3 (collagen, type IV, alpha 3 (Goodpasture antigen)), and among its related pathways are Protein digestion and absorption and Small cell lung cancer. Affiliated tissues include eye and kidney, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

Description from OMIM:46 104200,203780,301050

Aliases & Classifications for Autosomal Dominant Alport Syndrome

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Eye diseases, Nephrological diseases, Ear diseases


Characteristics (Orphanet epidemiological data):

48
alport syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Prevalence: 1-9/100000; Age of onset: Childhood
autosomal dominant alport syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood


Aliases & Descriptions:

autosomal dominant alport syndrome 42 22 48
alport syndrome, autosomal dominant 46 44 60
alport syndrome 48 60
renal failure and sensorineural hearing loss 42
alport syndrome dominant type 42
alport deafness-nephropathy 48


External Ids:

MESH via Orphanet35 D009394, C536586
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet57 399340005
UMLS via Orphanet61 C1567741, C1567743, C2931253

Related Diseases for Autosomal Dominant Alport Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Autosomal Recessive Alport Syndrome family:

autosomal dominant alport syndrome

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

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1alport syndrome31.0COL4A3, COL4A4
2autosomal recessive alport syndrome30.9COL4A3, COL4A4
3proteinuria30.4MYH9, COL4A3, COL4A4
4glomerulonephritis30.1MYH9, COL4A3, COL4A4
5thin basement membrane nephropathy29.9COL4A3, COL4A4
6goodpasture syndrome29.9COL4A3BP, COL4A3
7leiomyomatosis10.7
8alport syndrome and thin basement membrane nephropathy10.5
9esophagitis10.4
10macular holes10.3
11collagen disease10.3
12retinitis10.3
13x-linked disease10.3
14leiomyomatosis, esophageal and vulval, with nephropathy10.3
15adult syndrome10.3
16good syndrome10.2
17kidney disease10.2
18alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis10.2
19autosomal dominant disease10.2
20end stage renal failure10.1
21peritonitis10.1
22image syndrome10.1
23alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis10.1
24diabetic nephropathy10.0
25neurofibromatosis10.0
26membranoproliferative glomerulonephritis10.0
27smooth muscle tumor10.0
28frasier syndrome10.0
29balkan hemorrhagic fever10.0
30polycystic kidney disease10.0
31nephrocalcinosis10.0
32balkan nephropathy10.0
33erythropoietic protoporphyria10.0
34horner's syndrome10.0
35cataract10.0
36craniopharyngioma10.0
37gingivitis10.0
38hemorrhagic fever with renal syndrome10.0
39herpes simplex10.0
40intellectual disability10.0
41keratitis10.0
42periodontitis10.0
43retinal degeneration10.0
44retinal detachment10.0
45skin disease10.0
46ventricular septal defect10.0
47myh9 related thrombocytopenia10.0
48sebastian syndrome10.0
49nephrotic syndrome10.0COL4A4
50primary hyperoxaluria10.0COL4A3, MYH9

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



Diseases related to autosomal dominant alport syndrome

Clinical Features for Autosomal Dominant Alport Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

104200,203780,301050

Clinical synopsis from OMIM:

104200

Symptoms:

48
  • sensorineural deafness/hearing loss
  • proteinuria
  • renal failure
  • hematuria/microhematuria
  • renal glomerular defect/glomerulopathy
  • nephrotic syndrome

Drugs & Therapeutics for Autosomal Dominant Alport Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Autosomal Dominant Alport Syndrome

Drug clinical trials:

Search ClinicalTrials for Autosomal Dominant Alport Syndrome

Search NIH Clinical Center for Autosomal Dominant Alport Syndrome

Search CenterWatch for Autosomal Dominant Alport Syndrome

Genetic Tests for Autosomal Dominant Alport Syndrome

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Sources:
22GTR
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Genetic tests related to Autosomal Dominant Alport Syndrome:

id Genetic test Affiliating Genes
1 Alport Syndrome, Autosomal Dominant22

Anatomical Context for Autosomal Dominant Alport Syndrome

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Sources:
32MalaCards
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MalaCards organs/tissues related to Autosomal Dominant Alport Syndrome:

32
Eye, Kidney

Animal Models for Autosomal Dominant Alport Syndrome or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Autosomal Dominant Alport Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9COL4A4, COL4A3, MYH9
2MP:00053678.7COL4A3, MYH9, COL4A4
3MP:00053788.0MYH9, COL4A3, COL4A4, COL4A3BP
4MP:00107688.0COL4A3BP, COL4A4, COL4A3, MYH9
5MP:00053767.7COL4A4, COL4A3BP, MYH9, COL4A3

Publications for Autosomal Dominant Alport Syndrome

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Genetic Variations for Autosomal Dominant Alport Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Autosomal Dominant Alport Syndrome:

62
id Symbol AA change Variation ID SNP ID
1COL4A3p.Gly1167ArgVAR_011211

Expression for genes affiliated with Autosomal Dominant Alport Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Autosomal Dominant Alport Syndrome

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

Pathways for genes affiliated with Autosomal Dominant Alport Syndrome

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Sources:
29KEGG, 12EMD Millipore, 37NCBI BioSystems Database, 53Reactome, 51QIAGEN, 49PharmGKB
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Pathways related to Autosomal Dominant Alport Syndrome according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3COL4A4, COL4A3
29.3COL4A3, COL4A4
3
Cell adhesion ECM remodeling
Hide members
9.3COL4A3, COL4A4
49.3COL4A4, COL4A3
5
Hide members
9.3COL4A3, COL4A4
6
Hide members
9.3COL4A3, COL4A4
7
Hide members
9.3COL4A3, COL4A4
8
Hide members
9.3COL4A4, COL4A3
99.3COL4A3, COL4A4
10
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
Hide members
9.3COL4A4, COL4A3
119.3COL4A3, COL4A4
129.3COL4A3, COL4A4
13
Hide members
8.8MYH9, COL4A3, COL4A4
14
Hide members
8.8MYH9, COL4A3, COL4A4
15
Hide members
8.8MYH9, COL4A3, COL4A4
16
Cell adhesion Integrin-mediated cell adhesion and migration
Hide members
8.8MYH9, COL4A3, COL4A4

Compounds for genes affiliated with Autosomal Dominant Alport Syndrome

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GO Terms for genes affiliated with Autosomal Dominant Alport Syndrome

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Sources:
16Gene Ontology
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Cellular components related to Autosomal Dominant Alport Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.3COL4A3, COL4A4
2collagen type IVGO:0055879.0COL4A3, COL4A4

Biological processes related to Autosomal Dominant Alport Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:0328369.4COL4A4, COL4A3
2collagen catabolic processGO:0305749.3COL4A4, COL4A3
3extracellular matrix organizationGO:0301989.3COL4A3, COL4A4
4extracellular matrix disassemblyGO:0226179.2COL4A4, COL4A3
5axon guidanceGO:0074118.9MYH9, COL4A3, COL4A4
6in utero embryonic developmentGO:0017018.8COL4A3BP, MYH9

Molecular functions related to Autosomal Dominant Alport Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.3COL4A3, COL4A4

Products for genes affiliated with Autosomal Dominant Alport Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Autosomal Dominant Alport Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet