MCID: ATS015
MIFTS: 52

Autosomal Dominant Alport Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Ear diseases, Fetal diseases categories

Summaries for Autosomal Dominant Alport Syndrome

About this section
Sources:
44NIH Rare Diseases, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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 feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia, situs inversus visceralis/colon/intestine trasposition/heterotaxia and subcutaneous nodules/lipomas/tumefaction/swelling. An important gene associated with Autosomal Dominant Alport Syndrome is COL4A3 (collagen, type IV, alpha 3 (Goodpasture antigen)), and among its related pathways are Degradation of the extracellular matrix and Collagen biosynthesis and modifying enzymes. Affiliated tissues include eye, kidney and colon, and related mouse phenotypes are hearing/vestibular/ear and homeostasis/metabolism.

Description from OMIM:48 104200,203780,301050

Aliases & Classifications for Autosomal Dominant Alport Syndrome

About this section
Sources:
50Orphanet, 63UMLS, 44NIH Rare Diseases, 23GTR, 48OMIM, 46Novoseek, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
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 44 23 50
alport syndrome, autosomal dominant 48 46 63
alport syndrome 50 63
renal failure and sensorineural hearing loss 44
alport syndrome dominant type 44
alport deafness-nephropathy 50


External Ids:

MESH via Orphanet37 D009394, C536586
ICD10 via Orphanet27 Q87.8
SNOMED-CT via Orphanet60 399340005
UMLS via Orphanet64 C1567741, C1567743, C2931253

Related Diseases for Autosomal Dominant Alport Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
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 syndrome31.1COL4A4, COL4A3
3thin basement membrane nephropathy30.7COL4A3, COL4A4
4proteinuria30.4COL4A4, COL4A3, MYH9
5nephritis30.2COL4A4, COL4A3, MYH9
6glomerulonephritis30.1MYH9, COL4A4, COL4A3
7leiomyomatosis10.8
8alport syndrome and thin basement membrane nephropathy10.5
9esophagitis10.5
10macular holes10.4
11retinitis10.4
12mental retardation10.3
13x-linked diffuse leiomyomatosis - alport syndrome10.3
14alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis10.3
15alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis10.3
16renal fibrosis10.2
17end stage renal failure10.2
18kidney disease10.2
19peritonitis10.2
20leiomyomatosis, esophageal and vulval, with nephropathy10.2
21neurofibromatosis10.0
22membranoproliferative glomerulonephritis10.0
23polycystic kidney disease10.0
24nephrocalcinosis10.0
25horner's syndrome10.0
26smooth muscle tumor10.0
27frasier syndrome10.0
28erythropoietic protoporphyria10.0
29cataract10.0
30collagen disease10.0
31craniopharyngioma10.0
32gingivitis10.0
33hemorrhagic fever with renal syndrome10.0
34herpes simplex10.0
35intellectual disability10.0
36keratitis10.0
37periodontitis10.0
38retinal detachment10.0
39ventricular septal defect10.0
40hemorrhagic fever10.0
41myh9 related thrombocytopenia10.0
42vitreoretinal degeneration10.0
43hypotonia10.0
44blindness10.0
45herpes simplex virus keratitis10.0
46primary hyperoxaluria10.0MYH9, COL4A3
47sensorineural hearing loss9.9COL4A4, COL4A3, MYH9

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



Diseases related to autosomal dominant alport syndrome

Symptoms for Autosomal Dominant Alport Syndrome

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

104200

Clinical features from OMIM:

104200,203780,301050

Symptoms:

50 (show all 35)
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • situs inversus visceralis/colon/intestine trasposition/heterotaxia
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • photophobia
  • uterus/uterine/cervix/endometrium neoplasm/tumor/carcinoma/cancer
  • myopia
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • thrombocytopenia/thrombopenia
  • colon neoplasm/tumor/carcinoma/cancer
  • soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • cataract/lens opacification
  • macular dystrophy/absence/hypoplasia of the macula
  • corneal dystrophy
  • pallor
  • dry/squaly skin/exfoliation
  • tinnitus
  • palpebral edema/periorbital edema
  • aphakia/microphakia/spherophakia/biphakia/absence of lens/lenticone/lentiglobus
  • x-linked dominant inheritance
  • renal glomerular defect/glomerulopathy
  • sensorineural deafness/hearing loss
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • chronic arterial hypertension
  • asthenia/fatigue/weakness
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • facial pain/cephalalgia/migraine
  • aseptic leukocyturia
  • proteinuria
  • nephrotic syndrome
  • renal failure
  • edema of the legs/lower limbs
  • retinopathy

Drugs & Therapeutics for Autosomal Dominant Alport Syndrome

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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

About this section
Sources:
23GTR
See all sources

Genetic tests related to Autosomal Dominant Alport Syndrome:

id Genetic test Affiliating Genes
1 Alport Syndrome, Autosomal Dominant23

Anatomical Context for Autosomal Dominant Alport Syndrome

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Autosomal Dominant Alport Syndrome:

34
Eye, Kidney, Colon, Uterus, Skin, Lung, Cervix

Animal Models for Autosomal Dominant Alport Syndrome or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Autosomal Dominant Alport Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.5COL4A4, COL4A3, MYH9
2MP:00053768.5COL4A3, MYH9, COL4A4
3MP:00053678.4COL4A3, COL4A4, MYH9
4MP:00053788.2MYH9, COL4A3, COL4A4

Publications for Autosomal Dominant Alport Syndrome

About this section
Sources:
53PubMed
See all sources

Articles related to Autosomal Dominant Alport Syndrome:

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 syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. (15086897)
2004
4
Correlation of histopathological features and renal impairment in autosomal dominant Alport syndrome in Bull terriers. (12401844)
2002
5
A novel model of autosomal dominant Alport syndrome in Dalmatian dogs. (12454218)
2002
6
Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties. (11135492)
2000
7
Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. (11044206)
2000
8
Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13. (10577925)
1999
9
Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). (9269635)
1997
10
Bull terrier hereditary nephritis: a model for autosomal dominant Alport syndrome. (7752574)
1995

Variations for Autosomal Dominant Alport Syndrome

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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

65
id Symbol AA change Variation ID SNP ID
1COL4A3p.Gly1167ArgVAR_011211

Clinvar genetic disease variations for Autosomal Dominant Alport Syndrome:

1
id Gene Name 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 Autosomal Dominant Alport Syndrome

About this section
Sources:
2BioGPS, 16Gene 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

About this section
Sources:
51PathCards, 56Reactome, 54QIAGEN, 31KEGG, 39NCBI BioSystems Database, 61Thomson Reuters, 13EMD Millipore, 52PharmGKB
See all sources

Pathways related to Autosomal Dominant Alport Syndrome according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0COL4A3, COL4A4
2
Show member pathways
9.0COL4A4, COL4A3
39.0COL4A4, COL4A3
4
Show member pathways
Integrin-mediated cell adhesion39
Focal Adhesion39
9.0COL4A4, COL4A3
59.0COL4A4, COL4A3
6
Show member pathways
9.0COL4A4, COL4A3
7
Show member pathways
9.0COL4A4, COL4A3
89.0COL4A3, COL4A4
9
Show member pathways
9.0COL4A4, COL4A3
109.0COL4A3, COL4A4
119.0COL4A3, COL4A4
129.0COL4A4, COL4A3
139.0COL4A3, COL4A4
14
Show member pathways
9.0COL4A4, COL4A3
159.0COL4A4, COL4A3
169.0COL4A4, COL4A3
17
Show member pathways
8.5MYH9, COL4A3, COL4A4
18
Show member pathways
8.5MYH9, COL4A3, COL4A4
19
Show member pathways
8.5COL4A4, COL4A3, MYH9
20
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility61
Cytoskeleton remodeling Integrin outside in signaling61
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases61
Cell adhesion Tight junctions61
Development MAG dependent inhibition of neurite outgrowth61
8.5COL4A4, COL4A3, MYH9

Compounds for genes affiliated with Autosomal Dominant Alport Syndrome

About this section

GO Terms for genes affiliated with Autosomal Dominant Alport Syndrome

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Autosomal Dominant Alport Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.0COL4A4, COL4A3
2collagen type IVGO:0055878.7COL4A4, COL4A3

Biological processes related to Autosomal Dominant Alport Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:0328369.1COL4A4, COL4A3
2extracellular matrix organizationGO:0301989.0COL4A4, COL4A3
3collagen catabolic processGO:0305748.9COL4A3, COL4A4
4extracellular matrix disassemblyGO:0226178.7COL4A4, COL4A3
5axon guidanceGO:0074118.5COL4A4, COL4A3, MYH9

Molecular functions related to Autosomal Dominant Alport Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.0COL4A4, COL4A3

Products for genes affiliated with Autosomal Dominant Alport Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Autosomal Dominant Alport Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet