MCID: ALP074
MIFTS: 37

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:
49OMIM, 11diseasecard, 47Novoseek, 67UniProtKB/Swiss-Prot, 65UMLS, 45NIH Rare Diseases, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Alport Syndrome, Autosomal Dominant:

Name: Alport Syndrome, Autosomal Dominant 49 11 47 67 65
Autosomal Dominant Alport Syndrome 45 51 24
Renal Failure and Sensorineural Hearing Loss 45
Alport Syndrome Dominant Type 45
 
Nephritis-Deafness Syndrome 67
Nephropathy and Deafness 67
Apsad 67

Characteristics:

Orphanet epidemiological data:

51
autosomal dominant alport syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

61
alport syndrome, autosomal dominant:
Onset and clinical course: progressive
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 104200
Orphanet51 88918
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C536586
UMLS via Orphanet66 C1567743, C2931253
MedGen34 C1567743
MeSH36 D009394
UMLS65 C1567743

Summaries for Alport Syndrome, Autosomal Dominant

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OMIM:49 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, autosomal recessive and alport syndrome, and has symptoms including diffuse glomerular basement membrane lamellation, thickening of the glomerular basement membrane and stage 5 chronic kidney disease. An important gene associated with Alport Syndrome, Autosomal Dominant is COL4A3 (Collagen Type IV Alpha 3), and among its related pathways are Collagen biosynthesis and modifying enzymes and PI3K-Akt signaling pathway. Affiliated tissues include eye and kidney, and related mouse phenotype hearing/vestibular/ear.

NIH Rare Diseases:45 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

UniProtKB/Swiss-Prot:67 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.

Related Diseases for Alport Syndrome, Autosomal Dominant

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Graphical network of the top 20 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 15)
id Description Frequency HPO Source Accession
1 diffuse glomerular basement membrane lamellation HP:0030034
2 thickening of the glomerular basement membrane HP:0004722
3 stage 5 chronic kidney disease HP:0003774
4 azotemia HP:0002157
5 hypophosphatemia HP:0002148
6 lenticonus HP:0001142
7 anterior polar cataract HP:0001134
8 hypertension HP:0000822
9 hematuria HP:0000790
10 myopia HP:0000545
11 sensorineural hearing impairment HP:0000407
12 nephrocalcinosis HP:0000121
13 nephrotic syndrome HP:0000100
14 glomerulonephritis HP:0000099
15 proteinuria HP:0000093

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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Anatomical Context for Alport Syndrome, Autosomal Dominant

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

33
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:

38
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:

67
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 15)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1COL4A3, COL4A4
29.1COL4A3, COL4A4
3
Show member pathways
9.1COL4A3, COL4A4
49.1COL4A3, COL4A4
5
Show member pathways
9.1COL4A3, COL4A4
6
Show member pathways
9.1COL4A3, COL4A4
7
Show member pathways
9.1COL4A3, COL4A4
89.1COL4A3, COL4A4
99.1COL4A3, COL4A4
109.1COL4A3, COL4A4
119.1COL4A3, COL4A4
129.1COL4A3, COL4A4
139.1COL4A3, COL4A4
149.1COL4A3, COL4A4
159.1COL4A3, 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:00055879.1COL4A3, COL4A4

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix disassemblyGO:00226179.1COL4A3, COL4A4
2collagen catabolic processGO:00305749.0COL4A3, COL4A4

Sources for Alport Syndrome, Autosomal Dominant

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet