MCID: ALP074
MIFTS: 38

Alport Syndrome, Autosomal Dominant malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Alport Syndrome, Autosomal Dominant

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Sources:
11Disease Ontology, 12diseasecard, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Alport Syndrome, Autosomal Dominant:

Name: Alport Syndrome, Autosomal Dominant 51 69 12 49 67
Autosomal Dominant Alport Syndrome 11 47 53 26
Renal Failure and Sensorineural Hearing Loss 47
Alport Syndrome Dominant Type 47
 
Nephritis-Deafness Syndrome 69
Nephropathy and Deafness 69
Apsad 69

Characteristics:

Orphanet epidemiological data:

53
autosomal dominant alport syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

63
alport syndrome, autosomal dominant:
Inheritance: autosomal dominant inheritance
Onset and clinical course: progressive

Classifications:



External Ids:

OMIM51 104200
Disease Ontology11 DOID:0110032
Orphanet53 ORPHA88918
UMLS via Orphanet68 C1567743, C2931253
MESH via Orphanet39 C536586
ICD10 via Orphanet30 Q87.8
MedGen36 C1567743
MeSH38 D009394

Summaries for Alport Syndrome, Autosomal Dominant

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OMIM:51 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 vitreoretinal degeneration, and has symptoms including proteinuria, glomerulonephritis and nephrotic syndrome. An important gene associated with Alport Syndrome, Autosomal Dominant is COL4A3 (Collagen Type IV Alpha 3 Chain), and among its related pathways are Pathways in cancer and Collagen biosynthesis and modifying enzymes. Affiliated tissues include eye and kidney, and related mouse phenotype hearing/vestibular/ear.

Disease Ontology:11 An Alport syndrome that has material -basis in heterozygous mutation in the COL4A3 gene.

UniProtKB/Swiss-Prot:69 Alport syndrome, autosomal dominant: A syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness.

NIH Rare Diseases:47 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 syndrome10.0
2vitreoretinal degeneration9.9
3autosomal dominant nocturnal frontal lobe epilepsy9.7COL4A3, COL4A4
4hematuria, benign familial9.6COL4A3, COL4A4
5alport syndrome, autosomal recessive9.6COL4A3, COL4A4
6vulvar leiomyoma9.5COL4A3, COL4A4
7corneal endothelial dystrophy 1, autosomal dominant9.5COL4A3, COL4A4
8fg syndrome 59.3COL4A3, COL4A4

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

Human phenotypes related to Alport Syndrome, Autosomal Dominant:

 63 (show all 15)
id Description HPO Frequency HPO Source Accession
1 proteinuria63 HP:0000093
2 glomerulonephritis63 HP:0000099
3 nephrotic syndrome63 HP:0000100
4 nephrocalcinosis63 HP:0000121
5 sensorineural hearing impairment63 HP:0000407
6 myopia63 HP:0000545
7 hematuria63 HP:0000790
8 hypertension63 HP:0000822
9 anterior polar cataract63 HP:0001134
10 lenticonus63 HP:0001142
11 hypophosphatemia63 HP:0002148
12 azotemia63 HP:0002157
13 stage 5 chronic kidney disease63 HP:0003774
14 thickening of the glomerular basement membrane63 HP:0004722
15 diffuse glomerular basement membrane lamellation63 HP:0030034

Drugs & Therapeutics for Alport Syndrome, Autosomal Dominant

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Biomarker for Patient With Alport Disease or Highly Suspected for Alport DiseaseRecruitingNCT02718027
2Alport Syndrome Treatments and Outcomes RegistryRecruitingNCT00481130

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 Dominant26

Anatomical Context for Alport Syndrome, Autosomal Dominant

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

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1COL4A3, COL4A4

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:

69
id Symbol AA change Variation ID SNP ID
1COL4A3p.Gly1167ArgVAR_011211rs267606745

Clinvar genetic disease variations for Alport Syndrome, Autosomal Dominant:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL4A3COL4A3, IVS21DS, G-A, -1SNVPathogenicChr na, -1: -1
2COL4A3NM_000091.4(COL4A3): c.3499G> A (p.Gly1167Arg)SNVPathogenicrs267606745GRCh37Chr 2, 228159760: 228159760
3COL4A4NM_000092.4(COL4A4): c.81_86delACTCAT (p.Ile29_Leu30del)deletionLikely pathogenicrs771943519GRCh37Chr 2, 228009260: 228009265
4COL4A3NM_000091.4(COL4A3): c.2083G> A (p.Gly695Arg)SNVLikely pathogenicrs200287952GRCh38Chr 2, 227277511: 227277511
5COL4A3NM_000091.4(COL4A3): c.3244_3247delAAAG (p.Lys1082Glufs)deletionPathogenicGRCh37Chr 2, 228157940: 228157943

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 16)
idSuper pathwaysScoreTop Affiliating Genes
19.1COL4A3, COL4A4
2
Show member pathways
9.1COL4A3, COL4A4
39.1COL4A3, COL4A4
4
Show member pathways
9.1COL4A3, COL4A4
5
Show member pathways
9.1COL4A3, COL4A4
6
Show member pathways
9.1COL4A3, COL4A4
7
Show member pathways
9.1COL4A3, COL4A4
8
Show member pathways
9.1COL4A3, COL4A4
99.1COL4A3, COL4A4
109.1COL4A3, COL4A4
119.1COL4A3, COL4A4
129.1COL4A3, COL4A4
139.1COL4A3, COL4A4
149.1COL4A3, COL4A4
159.1COL4A3, COL4A4
169.1COL4A3, COL4A4

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
1collagen type IV trimerGO:00055879.5COL4A3, COL4A4
2basement membraneGO:00056049.2COL4A3, COL4A4
3endoplasmic reticulum lumenGO:00057889.1COL4A3, COL4A4

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

idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:00328369.6COL4A3, COL4A4
2collagen catabolic processGO:00305749.2COL4A3, COL4A4
3extracellular matrix organizationGO:00301989.1COL4A3, COL4A4

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

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

Sources for Alport Syndrome, Autosomal Dominant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet