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

Aliases & Descriptions for Alport Syndrome, Autosomal Dominant:

Name: Alport Syndrome, Autosomal Dominant 54 66 13 52 69
Autosomal Dominant Alport Syndrome 12 50 56 29 14
Renal Failure and Sensorineural Hearing Loss 50
Alport Syndrome Dominant Type 50
Nephritis-Deafness Syndrome 66
Nephropathy and Deafness 66
Apsad 66

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant alport syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood;

HPO:

32
alport syndrome, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:



External Ids:

OMIM 54 104200
Disease Ontology 12 DOID:0110032
Orphanet 56 ORPHA88918
UMLS via Orphanet 70 C1567743 C2931253
MESH via Orphanet 43 C536586
ICD10 via Orphanet 34 Q87.8
MedGen 40 C1567743
MeSH 42 D009394

Summaries for Alport Syndrome, Autosomal Dominant

OMIM : 54 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 hypertension, sensorineural hearing impairment and proteinuria. An important gene associated with Alport Syndrome, Autosomal Dominant is COL4A3 (Collagen Type IV Alpha 3 Chain), and among its related pathways/superpathways are ERK Signaling and Developmental Biology. Affiliated tissues include eye and kidney, and related phenotypes are homeostasis/metabolism and mortality/aging

Disease Ontology : 12 An Alport syndrome that has_material -basis_in heterozygous mutation in the COL4A3 gene.

NIH Rare Diseases : 50 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 : 66 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

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



Diseases related to Alport Syndrome, Autosomal Dominant

Symptoms & Phenotypes for Alport Syndrome, Autosomal Dominant

Symptoms by clinical synopsis from OMIM:

104200

Clinical features from OMIM:

104200

Human phenotypes related to Alport Syndrome, Autosomal Dominant:

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 sensorineural hearing impairment 32 HP:0000407
3 proteinuria 32 HP:0000093
4 hypophosphatemia 32 HP:0002148
5 nephrotic syndrome 32 HP:0000100
6 myopia 32 HP:0000545
7 hematuria 32 HP:0000790
8 nephrocalcinosis 32 HP:0000121
9 stage 5 chronic kidney disease 32 HP:0003774
10 glomerulonephritis 32 HP:0000099
11 anterior polar cataract 32 HP:0001134
12 lenticonus 32 HP:0001142
13 azotemia 32 HP:0002157
14 thickening of the glomerular basement membrane 32 HP:0004722
15 diffuse glomerular basement membrane lamellation 32 HP:0030034

MGI Mouse Phenotypes related to Alport Syndrome, Autosomal Dominant:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 AGPS COL4A1 COL4A3 COL4A4 COL4A5 MYH9
2 mortality/aging MP:0010768 9.63 AGPS COL4A1 COL4A3 COL4A4 COL4A5 MYH9
3 renal/urinary system MP:0005367 9.35 COL4A1 COL4A3 COL4A4 COL4A5 MYH9
4 vision/eye MP:0005391 9.1 AGPS COL4A1 COL4A3 COL4A4 COL4A5 MYH9

Drugs & Therapeutics for Alport Syndrome, Autosomal Dominant

Interventional clinical trials:


id Name Status NCT ID Phase
1 Biomarker for Patient With Alport Disease or Highly Suspected for Alport Disease Recruiting NCT02718027
2 Alport Syndrome Treatments and Outcomes Registry Recruiting NCT00481130

Search NIH Clinical Center for Alport Syndrome, Autosomal Dominant

Genetic Tests for Alport Syndrome, Autosomal Dominant

Genetic tests related to Alport Syndrome, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Alport Syndrome, Autosomal Dominant 29

Anatomical Context for Alport Syndrome, Autosomal Dominant

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

39
Eye, Kidney

Publications for Alport Syndrome, Autosomal Dominant

Variations for Alport Syndrome, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Alport Syndrome, Autosomal Dominant:

66
id Symbol AA change Variation ID SNP ID
1 COL4A3 p.Gly1167Arg VAR_011211 rs267606745

ClinVar genetic disease variations for Alport Syndrome, Autosomal Dominant:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 COL4A3 COL4A3, IVS21DS, G-A, -1 single nucleotide variant Pathogenic
2 COL4A3 NM_000091.4(COL4A3): c.3499G> A (p.Gly1167Arg) single nucleotide variant Pathogenic rs267606745 GRCh37 Chromosome 2, 228159760: 228159760
3 COL4A3 NM_000091.4(COL4A3): c.998G> C (p.Gly333Ala) single nucleotide variant Pathogenic rs1057519376 GRCh37 Chromosome 2, 228122329: 228122329
4 COL4A3 NM_000091.4(COL4A3): c.4382C> T (p.Pro1461Leu) single nucleotide variant Pathogenic rs760462252 GRCh37 Chromosome 2, 228172555: 228172555
5 COL4A3 NM_000091.4(COL4A3): c.4474A> T (p.Ser1492Cys) single nucleotide variant Pathogenic rs1057519377 GRCh37 Chromosome 2, 228173626: 228173626
6 COL4A3 NM_000091.4(COL4A3): c.2083G> A (p.Gly695Arg) single nucleotide variant Likely pathogenic rs200287952 GRCh37 Chromosome 2, 228142227: 228142227
7 COL4A3 NM_000091.4(COL4A3): c.3244_3247delAAAG (p.Lys1082Glufs) deletion Pathogenic rs1057516204 GRCh37 Chromosome 2, 228157940: 228157943
8 COL4A3 NM_000091.4(COL4A3): c.5010_*14del18 deletion Likely pathogenic GRCh37 Chromosome 2, 228176583: 228176600

Expression for Alport Syndrome, Autosomal Dominant

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

Pathways for Alport Syndrome, Autosomal Dominant

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

(show all 19)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.45 COL4A1 COL4A3 COL4A4 COL4A5 MYH9
2
Show member pathways
13.18 COL4A1 COL4A3 COL4A4 COL4A5 MYH9
3
Show member pathways
13.09 COL4A1 COL4A3 COL4A4 COL4A5 MYH9
4
Show member pathways
12.77 COL4A1 COL4A3 COL4A4 COL4A5
5
Show member pathways
12.62 COL4A1 COL4A3 COL4A4 COL4A5
6
Show member pathways
12.56 COL4A1 COL4A3 COL4A4 COL4A5
7
Show member pathways
12.48 COL4A1 COL4A3 COL4A4 COL4A5
8 12.41 COL4A1 COL4A3 COL4A4 COL4A5
9
Show member pathways
12.41 COL4A1 COL4A3 COL4A4 COL4A5 MYH9
10 12.33 COL4A1 COL4A3 COL4A4 COL4A5
11
Show member pathways
11.95 COL4A1 COL4A3 COL4A4 COL4A5
12 11.73 COL4A1 COL4A3 COL4A4 COL4A5
13 11.69 COL4A1 COL4A3 COL4A4 COL4A5
14 11.59 COL4A1 COL4A3 COL4A4 COL4A5
15 11.49 COL4A3 COL4A4 COL4A5 MYH9
16 11.34 COL4A1 COL4A3 COL4A4 COL4A5
17 11.15 COL4A1 COL4A3 COL4A4 COL4A5
18 10.86 COL4A1 COL4A3 COL4A4 COL4A5
19 10.49 COL4A1 COL4A3 COL4A4 COL4A5

GO Terms for Alport Syndrome, Autosomal Dominant

Cellular components related to Alport Syndrome, Autosomal Dominant according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.62 COL4A1 COL4A3 COL4A4 COL4A5
2 endoplasmic reticulum lumen GO:0005788 9.56 COL4A1 COL4A3 COL4A4 COL4A5
3 collagen trimer GO:0005581 9.46 COL4A1 COL4A3 COL4A4 COL4A5
4 neuromuscular junction GO:0031594 9.4 COL4A5 MYH9
5 basal lamina GO:0005605 9.37 COL4A4 COL4A5
6 basement membrane GO:0005604 9.26 COL4A1 COL4A3 COL4A4 COL4A5
7 collagen type IV trimer GO:0005587 8.92 COL4A1 COL4A3 COL4A4 COL4A5

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.46 COL4A1 COL4A3 COL4A4 COL4A5
2 neuromuscular junction development GO:0007528 9.32 COL4A1 COL4A5
3 glomerular basement membrane development GO:0032836 9.26 COL4A3 COL4A4
4 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.13 COL4A1 COL4A3 COL4A5
5 collagen catabolic process GO:0030574 8.92 COL4A1 COL4A3 COL4A4 COL4A5

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.92 COL4A1 COL4A3 COL4A4 COL4A5

Sources for Alport Syndrome, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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