APSAD
MCID: ALP074
MIFTS: 43

Alport Syndrome, Autosomal Dominant (APSAD) 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, 13DISEASES, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Alport Syndrome, Autosomal Dominant:

Name: Alport Syndrome, Autosomal Dominant 52 70 12 50 68
Autosomal Dominant Alport Syndrome 11 48 54 27 13
Renal Failure and Sensorineural Hearing Loss 48
Alport Syndrome Dominant Type 48
 
Nephritis-Deafness Syndrome 70
Nephropathy and Deafness 70
Apsad 70

Characteristics:

Orphanet epidemiological data:

54
autosomal dominant alport syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

64
alport syndrome, autosomal dominant:
Inheritance: autosomal dominant inheritance
Onset and clinical course: progressive

Classifications:



External Ids:

OMIM52 104200
Disease Ontology11 DOID:0110032
Orphanet54 ORPHA88918
UMLS via Orphanet69 C1567743, C2931253
MESH via Orphanet40 C536586
ICD10 via Orphanet31 Q87.8
MedGen37 C1567743
MeSH39 D009394

Summaries for Alport Syndrome, Autosomal Dominant

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OMIM:52 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 corneal endothelial dystrophy 1, autosomal dominant and malignant migrating partial seizures of infancy, 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 Primary Focal Segmental Glomerulosclerosis FSGS and Degradation of the extracellular matrix. Affiliated tissues include eye and kidney, and related mouse phenotypes are renal/urinary system and homeostasis/metabolism.

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

NIH Rare Diseases:48 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:70 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 diseases related to Alport Syndrome, Autosomal Dominant:



Diseases related to alport syndrome, autosomal dominant

Symptoms & Phenotypes 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:

 64 (show all 15)
id Description HPO Frequency HPO Source Accession
1 proteinuria64 HP:0000093
2 glomerulonephritis64 HP:0000099
3 nephrotic syndrome64 HP:0000100
4 nephrocalcinosis64 HP:0000121
5 sensorineural hearing impairment64 HP:0000407
6 myopia64 HP:0000545
7 hematuria64 HP:0000790
8 hypertension64 HP:0000822
9 anterior polar cataract64 HP:0001134
10 lenticonus64 HP:0001142
11 hypophosphatemia64 HP:0002148
12 azotemia64 HP:0002157
13 stage 5 chronic kidney disease64 HP:0003774
14 thickening of the glomerular basement membrane64 HP:0004722
15 diffuse glomerular basement membrane lamellation64 HP:0030034

MGI Mouse Phenotypes related to Alport Syndrome, Autosomal Dominant according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.9COL4A1, COL4A3, COL4A4, COL4A5, MYH9
2MP:00053768.2AGPS, COL4A1, COL4A3, COL4A4, COL4A5, MYH9
3MP:00107688.1AGPS, COL4A1, COL4A3, COL4A4, COL4A5, MYH9
4MP:00053917.4AGPS, COL4A1, COL4A3, COL4A4, COL4A5, MYH9

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 Dominant27

Anatomical Context for Alport Syndrome, Autosomal Dominant

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

36
Eye, Kidney

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:

70
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, -1SNVPathogenic
2COL4A3NM_ 000091.4(COL4A3): c.3499G> A (p.Gly1167Arg)SNVPathogenicrs267606745GRCh37Chr 2, 228159760: 228159760
3COL4A3NM_ 000091.4(COL4A3): c.998G> C (p.Gly333Ala)SNVPathogenicrs1057519376GRCh37Chr 2, 228122329: 228122329
4COL4A3NM_ 000091.4(COL4A3): c.4382C> T (p.Pro1461Leu)SNVPathogenicrs760462252GRCh37Chr 2, 228172555: 228172555
5COL4A3NM_ 000091.4(COL4A3): c.4474A> T (p.Ser1492Cys)SNVPathogenicrs1057519377GRCh37Chr 2, 228173626: 228173626
6COL4A3NM_ 000091.4(COL4A3): c.2083G> A (p.Gly695Arg)SNVLikely pathogenicrs200287952GRCh37Chr 2, 228142227: 228142227
7COL4A3NM_ 000091.4(COL4A3): c.3244_ 3247delAAAG (p.Lys1082Glufs)deletionPathogenicrs1057516204GRCh37Chr 2, 228157940: 228157943
8COL4A3NM_ 000091.4(COL4A3): c.5010_ *14del18deletionLikely pathogenicGRCh37Chr 2, 228176583: 228176600

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 19)
idSuper pathwaysScoreTop Affiliating Genes
18.7COL4A3, COL4A4, COL4A5, MYH9
2
Show member pathways
8.7COL4A1, COL4A3, COL4A4, COL4A5
38.7COL4A1, COL4A3, COL4A4, COL4A5
48.7COL4A1, COL4A3, COL4A4, COL4A5
5
Show member pathways
8.7COL4A1, COL4A3, COL4A4, COL4A5
6
Show member pathways
8.7COL4A1, COL4A3, COL4A4, COL4A5
7
Show member pathways
8.7COL4A1, COL4A3, COL4A4, COL4A5
88.7COL4A1, COL4A3, COL4A4, COL4A5
9
Show member pathways
8.7COL4A1, COL4A3, COL4A4, COL4A5
108.7COL4A1, COL4A3, COL4A4, COL4A5
118.7COL4A1, COL4A3, COL4A4, COL4A5
128.7COL4A1, COL4A3, COL4A4, COL4A5
138.7COL4A1, COL4A3, COL4A4, COL4A5
148.7COL4A1, COL4A3, COL4A4, COL4A5
158.7COL4A1, COL4A3, COL4A4, COL4A5
16
Show member pathways
8.2COL4A1, COL4A3, COL4A4, COL4A5, MYH9
17
Show member pathways
8.2COL4A1, COL4A3, COL4A4, COL4A5, MYH9
18
Show member pathways
8.2COL4A1, COL4A3, COL4A4, COL4A5, MYH9
19
Show member pathways
8.2COL4A1, COL4A3, COL4A4, COL4A5, MYH9

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
1basal laminaGO:000560510.3COL4A4, COL4A5
2neuromuscular junctionGO:003159410.1COL4A5, MYH9
3basement membraneGO:00056049.4COL4A1, COL4A3, COL4A4, COL4A5
4collagen trimerGO:00055819.4COL4A1, COL4A3, COL4A4, COL4A5
5collagen type IV trimerGO:00055879.4COL4A1, COL4A3, COL4A4, COL4A5
6endoplasmic reticulum lumenGO:00057889.3COL4A1, COL4A3, COL4A4, COL4A5
7proteinaceous extracellular matrixGO:00055788.7COL4A1, COL4A3, COL4A4, COL4A5

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

idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:003283610.1COL4A3, COL4A4
2collagen-activated tyrosine kinase receptor signaling pathwayGO:00380639.7COL4A1, COL4A3, COL4A5
3neuromuscular junction developmentGO:00075289.5COL4A1, COL4A5
4collagen catabolic processGO:00305749.3COL4A1, COL4A3, COL4A4, COL4A5
5extracellular matrix organizationGO:00301989.1COL4A1, COL4A3, COL4A4, COL4A5

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052018.7COL4A1, COL4A3, COL4A4, COL4A5

Sources for Alport Syndrome, Autosomal Dominant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet