MCID: ATS015
MIFTS: 43

Autosomal Dominant Alport Syndrome malady

Eye, Nephrological, Ear, Fetal categories

Summaries for Autosomal Dominant Alport Syndrome

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 autosomal recessive alport syndrome and 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 kidney, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

Description from OMIM:47 104200,203780,301050

Aliases & Classifications for Autosomal Dominant Alport Syndrome

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 22 49
alport syndrome, autosomal dominant 47 45 61
alport syndrome 49 61
renal failure and sensorineural hearing loss 43
alport syndrome dominant type 43
alport deafness-nephropathy 49


External Ids:

MESH via Orphanet36 D009394, C536586
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet58 399340005
UMLS via Orphanet62 C1567741, C1567743, C2931253

Related Diseases for Autosomal Dominant Alport Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Autosomal Dominant Alport Syndrome family:

autosomal recessive alport syndrome

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

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1autosomal recessive alport syndrome31.2COL4A3, COL4A4
2alport syndrome31.1COL4A3, COL4A4
3thin basement membrane nephropathy30.7COL4A3, COL4A4
4nephritis30.3MYH9, COL4A3, COL4A4
5goodpasture syndrome29.9COL4A3BP, COL4A3
6kid syndrome10.6
7micro syndrome10.4
8char syndrome10.4
9n syndrome10.4
10good syndrome10.3
11adult syndrome10.3
12leiomyomatosis, esophageal and vulval, with nephropathy10.3
13young syndrome10.3
14mental retardation10.3
15alport syndrome and thin basement membrane nephropathy10.2
16alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis10.2
17autosomal dominant disease10.2
18alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis10.1
19diabetic nephropathy10.0
20neurofibromatosis10.0
21membranoproliferative glomerulonephritis10.0
22klinefelter's syndrome10.0
23smooth muscle tumor10.0
24frasier syndrome10.0
25balkan hemorrhagic fever10.0
26west syndrome10.0
27alpha chain disease10.0
28macular holes10.0
29polycystic kidney disease10.0
30nephrocalcinosis10.0
31balkan nephropathy10.0
32erythropoietic protoporphyria10.0
33horner's syndrome10.0
34ventricular septal defect10.0
353-m syndrome10.0
36bod syndrome10.0
37myh9 related thrombocytopenia10.0
38hemorrhagic fever10.0
39vitreoretinal degeneration10.0
40sebastian syndrome10.0
41hypotonia10.0
42herpes simplex virus keratitis10.0
43nephrotic syndrome10.0COL4A4
44primary hyperoxaluria10.0COL4A3, MYH9
45sensorineural hearing loss10.0MYH9, COL4A4, COL4A3
46proteinuria10.0MYH9, COL4A3, COL4A4
47glomerulonephritis10.0MYH9, COL4A3, COL4A4

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

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

104200,203780,301050

Clinical synopsis from OMIM:

104200

Symptoms:

49 (show all 6)
  • sensorineural deafness/hearing loss
  • proteinuria
  • renal failure
  • hematuria/microhematuria
  • renal glomerular defect/glomerulopathy
  • nephrotic syndrome

Drugs & Therapeutics for Autosomal Dominant Alport Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

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

Sources:
33MalaCards
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MalaCards organs/tissues related to Autosomal Dominant Alport Syndrome:

33
Kidney

Animal Models for Autosomal Dominant Alport Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Autosomal Dominant Alport Syndrome:

37
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

Sources:
51PubMed
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Articles related to Autosomal Dominant Alport Syndrome:

(show all 14)
idTitleAuthorsYear
1
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. (24033287)
2013
2
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. (19129241)
2009
3
Autosomal dominant Alport's syndrome: study of a large Tunisian family. (16970251)
2006
4
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. (15086897)
2004
5
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. (12028435)
2002
6
Correlation of histopathological features and renal impairment in autosomal dominant Alport syndrome in Bull terriers. (12401844)
2002
7
A novel model of autosomal dominant Alport syndrome in Dalmatian dogs. (12454218)
2002
8
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. (11590545)
2001
9
Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia. (11572889)
2001
10
Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties. (11135492)
2000
11
Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. (11044206)
2000
12
Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13. (10577925)
1999
13
Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). (9269635)
1997
14
Bull terrier hereditary nephritis: a model for autosomal dominant Alport syndrome. (7752574)
1995

Genetic Variations for Autosomal Dominant Alport Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Autosomal Dominant Alport Syndrome:

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

Expression for genes affiliated with Autosomal Dominant Alport Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 12EMD Millipore, 38NCBI BioSystems Database, 54Reactome, 52QIAGEN, 50PharmGKB
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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

GO Terms for genes affiliated with Autosomal Dominant Alport Syndrome

Sources:
16Gene Ontology
See all sources

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:0328369.4COL4A3, COL4A4
2collagen catabolic processGO:0305749.3COL4A4, COL4A3
3extracellular matrix organizationGO:0301989.3COL4A3, COL4A4
4extracellular matrix disassemblyGO:0226179.2COL4A3, COL4A4
5axon guidanceGO:0074118.9MYH9, COL4A3, COL4A4
6in utero embryonic developmentGO:0017018.8MYH9, COL4A3BP

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Autosomal Dominant Alport Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet