ATS1
MCID: ALP106
MIFTS: 55

Alport Syndrome 1, X-Linked (ATS1)

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

Aliases & Classifications for Alport Syndrome 1, X-Linked

MalaCards integrated aliases for Alport Syndrome 1, X-Linked:

Name: Alport Syndrome 1, X-Linked 56 73
Nephropathy and Deafness, X-Linked 56 73
Ats1 56 73
Nephritis-Deafness Syndrome, X-Linked 73
X-Linked Alport Syndrome 58
Ats 56

Characteristics:

Orphanet epidemiological data:

58
x-linked alport syndrome
Inheritance: X-linked dominant; Age of onset: Childhood;

OMIM:

56
Miscellaneous:
progressive disorder
genetic heterogeneity
hearing loss occurs in late childhood
about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis
males more severely affected than females
affected males show onset of hematuria in first year of life
female carriers may show intermittent hematuria
about 15% of female carriers develop renal insufficiency in the second or third decade
estimated gene carrier frequency of 1 in 5,000

Inheritance:
x-linked dominant


HPO:

31
alport syndrome 1, x-linked:
Inheritance x-linked inheritance heterogeneous x-linked dominant inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


Summaries for Alport Syndrome 1, X-Linked

UniProtKB/Swiss-Prot : 73 Alport syndrome 1, X-linked: A syndrome that is characterized by progressive glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness.

MalaCards based summary : Alport Syndrome 1, X-Linked, also known as nephropathy and deafness, x-linked, is related to xia-gibbs syndrome and end stage renal disease. An important gene associated with Alport Syndrome 1, X-Linked is COL4A5 (Collagen Type IV Alpha 5 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal Adhesion. The drugs Atropine and Respiratory System Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and endothelial, and related phenotypes are sensorineural hearing impairment and ichthyosis

OMIM : 56 Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies (review by Kashtan, 1999). (301050)

Related Diseases for Alport Syndrome 1, X-Linked

Diseases in the Alport Syndrome 1, X-Linked family:

X-Linked Alport Syndrome

Diseases related to Alport Syndrome 1, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 7776)
# Related Disease Score Top Affiliating Genes
1 xia-gibbs syndrome 30.8 COL4A5 COL4A4
2 end stage renal disease 30.7 COL4A5 COL4A4
3 chronic kidney disease 30.7 COL4A5 COL4A4
4 alport syndrome 30.6 COL4A5 COL4A4
5 glomerulonephritis 29.9 COL4A5 COL4A4
6 hematuria, benign familial 29.5 COL4A5 COL4A4
7 kidney disease 29.5 COL4A5 COL4A4
8 focal segmental glomerulosclerosis 29.0 COL4A5 COL4A4
9 familial nephrotic syndrome 28.9 COL4A5 COL4A4
10 leiomyomatosis 28.8 COL4A5 COL4A4
11 porencephaly 28.7 COL4A5 COL4A4
12 auditory system disease 28.4 COL4A5 COL4A4
13 x-linked alport syndrome 28.3 COL4A5 COL4A4
14 autosomal recessive alport syndrome 28.0 COL4A5 COL4A4
15 goodpasture syndrome 28.0 COL4A5 COL4A4
16 x-linked alport syndrome-diffuse leiomyomatosis 12.5
17 menarche, age at, quantitative trait locus 1 12.4
18 menopause, natural, age at, quantitative trait locus 1 12.4
19 menopause, natural, age at, quantitative trait locus 2 12.4
20 menopause, natural, age at, quantitative trait locus 4 12.4
21 menarche, age at, quantitative trait locus 2 12.3
22 menarche, age at, quantitative trait locus 3 12.3
23 teeth present at birth 12.3
24 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 12.2
25 ear antitragus, tag at base of 12.2
26 pulmonary fungal infections in patients deemed at risk 12.2
27 ataxia-telangiectasia 12.0
28 antithrombin iii deficiency 12.0
29 andersen cardiodysrhythmic periodic paralysis 12.0
30 arterial tortuosity syndrome 12.0
31 ceroid lipofuscinosis, neuronal, 1 11.9
32 nijmegen breakage syndrome 11.9
33 leiomyomatosis, diffuse, with alport syndrome 11.8
34 atypical teratoid rhabdoid tumor 11.8
35 amme complex 11.7
36 ceroid lipofuscinosis, neuronal, 2 11.7
37 intermediate coronary syndrome 11.6
38 alport syndrome 3, autosomal dominant 11.6
39 parkinson disease 10 11.6
40 ceroid lipofuscinosis, neuronal, 5 11.6
41 neural tube defects 11.4
42 ceroid lipofuscinosis, neuronal, 6 11.3
43 cervical cancer 11.3
44 pulmonary disease, chronic obstructive 11.2
45 depression 11.2
46 diarrhea 11.2
47 post-traumatic stress disorder 11.2
48 lyme disease 11.2
49 carpal tunnel syndrome 11.2
50 myeloma, multiple 11.2

Graphical network of the top 20 diseases related to Alport Syndrome 1, X-Linked:



Diseases related to Alport Syndrome 1, X-Linked

Symptoms & Phenotypes for Alport Syndrome 1, X-Linked

Human phenotypes related to Alport Syndrome 1, X-Linked:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 ichthyosis 31 HP:0008064
3 proteinuria 31 HP:0000093
4 renal insufficiency 31 HP:0000083
5 hypertension 31 HP:0000822
6 myopia 31 HP:0000545
7 thrombocytopenia 31 HP:0001873
8 nephrotic syndrome 31 HP:0000100
9 hypoparathyroidism 31 HP:0000829
10 corneal erosion 31 HP:0200020
11 developmental cataract 31 HP:0000519
12 stage 5 chronic kidney disease 31 HP:0003774
13 microscopic hematuria 31 HP:0002907
14 nephritis 31 HP:0000123
15 diffuse leiomyomatosis 31 HP:0006756
16 lenticonus 31 HP:0001142
17 diffuse glomerular basement membrane lamellation 31 HP:0030034
18 thickening of the glomerular basement membrane 31 HP:0004722
19 anterior lenticonus 31 HP:0011501

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
proteinuria
nephrotic syndrome
hematuria, gross and microscopic

Head And Neck Eyes:
myopia
anterior lenticonus
cataracts
corneal erosions
lens opacities
more
Head And Neck Ears:
deafness, sensorineural, especially affecting high frequencies (in about 55% of males and 45% of females)

Cardiovascular Vascular:
hypertension

Genitourinary Kidneys:
glomerulonephropathy
end-stage renal failure
thinning of the glomerular basement membrane (early in the disease)
thickening of the glomerular basement membrane (later in the disease)
splitting of the glomerular basement membrane
more

Clinical features from OMIM:

301050

Drugs & Therapeutics for Alport Syndrome 1, X-Linked

Drugs for Alport Syndrome 1, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atropine Approved, Vet_approved Phase 3 51-55-8, 5908-99-6 174174
2 Respiratory System Agents Phase 3
3 Neurotransmitter Agents Phase 3
4 Parasympatholytics Phase 3
5 Cholinergic Agents Phase 3
6 Anti-Arrhythmia Agents Phase 3
7 Anti-Asthmatic Agents Phase 3
8 Muscarinic Antagonists Phase 3
9 Mydriatics Phase 3
10 Bronchodilator Agents Phase 3
11 Anesthetics Phase 3
12 Cholinergic Antagonists Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized Trial to Evaluate Combined Patching-Atropine for Residual Amblyopia Terminated NCT00506675 Phase 3 Atropine;Atropine
2 Biomarker for Alport Syndrome: An International, Multicenter, Observational, Longitudinal Protocol Recruiting NCT02718027

Search NIH Clinical Center for Alport Syndrome 1, X-Linked

Genetic Tests for Alport Syndrome 1, X-Linked

Anatomical Context for Alport Syndrome 1, X-Linked

MalaCards organs/tissues related to Alport Syndrome 1, X-Linked:

40
Eye, Kidney, Endothelial, Testes, T Cells

Publications for Alport Syndrome 1, X-Linked

Articles related to Alport Syndrome 1, X-Linked:

(show top 50) (show all 145)
# Title Authors PMID Year
1
Immunohistochemical and molecular genetic evidence for type IV collagen alpha5 chain abnormality in the anterior lenticonus associated with Alport syndrome. 6 56
12796257 2003
2
A mutation causing Alport syndrome with tardive hearing loss is common in the western United States. 56 6
8651292 1996
3
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome. 56 6
8825605 1995
4
Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele. 6 56
7706490 1995
5
Mutation in the alpha 5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product. 56 6
1598909 1992
6
Identification of mutations in the COL4A5 collagen gene in Alport syndrome. 6 56
2349482 1990
7
X-linked inheritance of Alport syndrome: family P revisited. 6 56
6650503 1983
8
Evidence of digenic inheritance in Alport syndrome. 56
25575550 2015
9
Clinical utility gene card for: Alport syndrome. 6
22166944 2012
10
Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene. 56
16133187 2005
11
Genetic cause of X-linked Alport syndrome in a family of domestic dogs. 56
12879362 2003
12
Alport Syndrome 6
20301386 2001
13
Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. 56
10499074 1999
14
New form of X-linked dominant hereditary nephritis in dogs. 56
10188823 1999
15
A model of autosomal recessive Alport syndrome in English cocker spaniel dogs. 56
9734596 1998
16
X-linked Alport syndrome in females. 56
9563792 1998
17
Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity. 56
9475100 1998
18
Alport syndrome. A review of the ocular manifestations. 56
9457747 1997
19
Susceptibility to anti-glomerular basement membrane disease and Goodpasture syndrome is linked to MHC class II genes and the emergence of T cell-mediated immunity in mice. 56
9410904 1997
20
Recurrent corneal erosion associated with Alport's syndrome. Rapid communication. 56
9211364 1997
21
Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis. 56
9153291 1997
22
Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q. 6
9150741 1997
23
Glomerular ultrastructural findings similar to hereditary nephritis in 4 English cocker spaniels. 56
9127294 1997
24
The clinical spectrum of type IV collagen mutations. 56
9195222 1997
25
Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. 56
8940267 1996
26
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. 56
8651296 1996
27
Canine X chromosome-linked hereditary nephritis: a genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the alpha 5 chain of collagen type IV. 56
8171024 1994
28
Alport syndrome: a genetic study of 31 families. 56
1483700 1992
29
Kidney transplantation in Alport's syndrome: long-term outcome and allograft anti-GBM nephritis. 56
1468159 1992
30
DNA rearrangements in the alpha 5(IV) collagen gene (COL4A5) of individuals with Alport syndrome: further refinement using pulsed-field gel electrophoresis. 6
1330889 1992
31
Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments. 6
1376965 1992
32
Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome. 56
1635357 1992
33
Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient. 6
1352287 1992
34
De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome. 6
1363780 1992
35
Alport syndrome caused by a 5' deletion within the COL4A5 gene. 6
1577459 1992
36
Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen. 56
1737849 1992
37
Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome. 6
1783380 1991
38
Multipoint linkage analysis in X-linked Alport syndrome. 56
1684562 1991
39
Renal disease in carrier female dogs with X-linked hereditary nephritis. Implications for female patients with this disease. 56
1928300 1991
40
Recurrent corneal epithelial erosions in Alport's syndrome. 56
1750330 1991
41
Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome. 6
1672282 1991
42
Molecular cloning of alpha 5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus. 56
2339699 1990
43
Localization of the gene for classic Alport syndrome. 56
2565879 1989
44
Linkage studies in X-linked Alport's syndrome. 56
2904407 1988
45
Genetics of classic Alport's syndrome. 56
2902439 1988
46
Alport's syndrome. 56
3054112 1988
47
Diffuse leiomyomatosis in Alport syndrome. 56
3294362 1988
48
Mapping of Alport syndrome to the long arm of the X chromosome. 56
3422540 1988
49
Lens capsule abnormalities in Alport's syndrome. 56
3689194 1987
50
Nonfamilial hematuria associated with glomerular basement membrane alterations characteristic of hereditary nephritis: comparison with hereditary nephritis. 56
3655982 1987

Variations for Alport Syndrome 1, X-Linked

ClinVar genetic disease variations for Alport Syndrome 1, X-Linked:

6 (show top 50) (show all 941) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL4A5 NM_033380.3(COL4A5):c.2048del (p.Pro683fs)deletion Pathogenic 397579 rs1060499694 X:107845119-107845119 X:108601889-108601889
2 COL4A5 NM_033380.3(COL4A5):c.3819_3881del (p.Pro1274_Gly1294del)deletion Pathogenic 397580 rs1556451235 X:107920735-107920797 X:108677505-108677567
3 COL4A5 NM_033380.3(COL4A5):c.679G>A (p.Gly227Ser)SNV Pathogenic 431809 rs1556405916 X:107821341-107821341 X:108578111-108578111
4 COL4A5 NM_033380.3(COL4A5):c.567_568TA[1] (p.Ile190fs)short repeat Pathogenic 522497 rs1556405010 X:107819160-107819161 X:108575930-108575931
5 COL4A5 NM_033380.3(COL4A5):c.687del (p.Gly230fs)deletion Pathogenic 522445 rs1556405926 X:107821345-107821345 X:108578115-108578115
6 COL4A5 NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp)SNV Pathogenic 430135 rs1131691795 X:107908773-107908773 X:108665543-108665543
7 COL4A5 NM_033380.3(COL4A5):c.1483dup (p.Gln495fs)duplication Pathogenic 446217 rs1556411631 X:107838797-107838798 X:108595567-108595568
8 COL4A5 NM_033380.3(COL4A5):c.584G>T (p.Gly195Val)SNV Pathogenic 451889 rs104886061 X:107819177-107819177 X:108575947-108575947
9 COL4A5 NM_033380.3(COL4A5):c.3314T>A (p.Leu1105Ter)SNV Pathogenic 522457 rs1556439394 X:107898628-107898628 X:108655398-108655398
10 COL4A5 NM_000495.4(COL4A5):c.82-?_1516+?deldeletion Pathogenic 587170
11 COL4A5 NM_000495.4(COL4A5):c.82-?_2395+?deldeletion Pathogenic 587167
12 COL4A5 NM_000495.4(COL4A5):c.3791-?_4198+?deldeletion Pathogenic 587222
13 COL4A5 NM_000495.4(COL4A5):c.3791-?_4510+?deldeletion Pathogenic 587091
14 COL4A5 NM_000495.4(COL4A5):c.3925-?_4198+?deldeletion Pathogenic 587169
15 COL4A5 NM_033380.3(COL4A5):c.2T>A (p.Met1Lys)SNV Pathogenic 587137 rs1569469409 X:107683357-107683357 X:108440127-108440127
16 COL4A5 NM_033380.3(COL4A5):c.2_3del (p.Met1fs)deletion Pathogenic 587284 rs104886376 X:107683357-107683358 X:108440127-108440128
17 COL4A5 NM_033380.3(COL4A5):c.38_41dup (p.Leu14fs)duplication Pathogenic 587269 rs104886408 X:107683391-107683392 X:108440161-108440162
18 COL4A5 NM_033380.3(COL4A5):c.276+5G>TSNV Pathogenic 587117 rs104886365 X:107807161-107807161 X:108563931-108563931
19 COL4A5 NM_033380.3(COL4A5):c.293del (p.Pro98fs)deletion Pathogenic 587317 rs104886045 X:107811874-107811874 X:108568644-108568644
20 COL4A5 NM_033380.3(COL4A5):c.321+1_321+2dupduplication Pathogenic 587172 rs1569488388 X:107811902-107811903 X:108568672-108568673
21 COL4A5 NM_033380.3(COL4A5):c.331_332insCA (p.Gly111fs)insertion Pathogenic 587235 rs1569488415 X:107811998-107811999 X:108568768-108568769
22 COL4A5 NM_033380.3(COL4A5):c.359_363delinsATAC (p.Gly120fs)indel Pathogenic 587135 rs1569488424 X:107812026-107812030 X:108568796-108568800
23 COL4A5 NM_033380.3(COL4A5):c.367G>A (p.Gly123Arg)SNV Pathogenic 587093 rs1569488426 X:107812034-107812034 X:108568804-108568804
24 COL4A5 NM_033380.3(COL4A5):c.368G>A (p.Gly123Glu)SNV Pathogenic 587136 rs1569488429 X:107812035-107812035 X:108568805-108568805
25 COL4A5 NM_033380.3(COL4A5):c.368del (p.Gly123fs)deletion Pathogenic 587318 rs104886046 X:107812034-107812034 X:108568804-108568804
26 COL4A5 NM_033380.3(COL4A5):c.384G>A (p.Lys128=)SNV Pathogenic 587113 rs1569488434 X:107812051-107812051 X:108568821-108568821
27 COL4A5 NM_033380.3(COL4A5):c.384+1G>ASNV Pathogenic 587156 rs1569488437 X:107812052-107812052 X:108568822-108568822
28 COL4A5 NM_033380.3(COL4A5):c.412G>A (p.Gly138Ser)SNV Pathogenic 587139 rs767619131 X:107814670-107814670 X:108571440-108571440
29 COL4A5 NM_000495.4(COL4A5):c.440del (p.Gly147Aspfs)deletion Pathogenic 587319 rs104886053 X:107815040-107815040 X:108571810-108571810
30 COL4A5 NM_033380.3(COL4A5):c.446del (p.Pro149fs)deletion Pathogenic 587321 rs104886054 X:107815044-107815044 X:108571814-108571814
31 COL4A5 NM_033380.3(COL4A5):c.446dup (p.Gly150fs)duplication Pathogenic 587320 rs104886054 X:107815043-107815044 X:108571813-108571814
32 COL4A5 NM_033380.3(COL4A5):c.458G>A (p.Gly153Asp)SNV Pathogenic 587159 rs1569488946 X:107815060-107815060 X:108571830-108571830
33 COL4A5 NM_033380.3(COL4A5):c.533del (p.Pro178fs)deletion Pathogenic 587322 rs104886058 X:107816870-107816870 X:108573640-108573640
34 COL4A5 NM_033380.3(COL4A5):c.544C>T (p.Gln182Ter)SNV Pathogenic 587125 rs1569489341 X:107816882-107816882 X:108573652-108573652
35 COL4A5 NM_033380.3(COL4A5):c.544_546+4deldeletion Pathogenic 587323 rs1569489339 X:107816881-107816887 X:108573651-108573657
36 COL4A5 NM_033380.3(COL4A5):c.547-3C>ASNV Pathogenic 587193 rs1569489799 X:107819137-107819137 X:108575907-108575907
37 COL4A5 NM_033380.3(COL4A5):c.550dup (p.Leu184fs)duplication Pathogenic 587324 rs104886433 X:107819141-107819142 X:108575911-108575912
38 COL4A5 NM_033380.3(COL4A5):c.560_561dup (p.Thr188fs)duplication Pathogenic 587196 rs1569489828 X:107819151-107819152 X:108575921-108575922
39 COL4A5 NM_033380.3(COL4A5):c.573_574dup (p.Gly192fs)duplication Pathogenic 587325 rs281874757 X:107819165-107819166 X:108575935-108575936
40 COL4A5 NM_033380.3(COL4A5):c.590del (p.Pro197fs)deletion Pathogenic 587164 rs1569489856 X:107819179-107819179 X:108575949-108575949
41 COL4A5 NM_033380.3(COL4A5):c.609+875G>TSNV Pathogenic 587243 rs1569490148 X:107820077-107820077 X:108576847-108576847
42 COL4A5 NM_033380.3(COL4A5):c.610-2A>TSNV Pathogenic 587240 rs281874758 X:107821180-107821180 X:108577950-108577950
43 COL4A5 NM_000495.4(COL4A5):c.610_628del (p.Gly204Aspfs)deletion Pathogenic 587326 rs104886435 X:107821180-107821198 X:108577950-108577968
44 COL4A5 NM_033380.3(COL4A5):c.646-12_646-11deldeletion Pathogenic 587257 rs104886436 X:107821296-107821297 X:108578066-108578067
45 COL4A5 NM_033380.3(COL4A5):c.680G>A (p.Gly227Asp)SNV Pathogenic 587197 rs1569490446 X:107821342-107821342 X:108578112-108578112
46 COL4A5 NM_033380.3(COL4A5):c.687+2T>CSNV Pathogenic 587118 rs1569490465 X:107821351-107821351 X:108578121-108578121
47 COL4A5 NM_000495.4(COL4A5):c.689del (p.Gly230Valfs)deletion Pathogenic 587258 rs104886077 X:107821520-107821520 X:108578290-108578290
48 COL4A5 NM_033380.3(COL4A5):c.698G>T (p.Gly233Val)SNV Pathogenic 587140 rs1569490592 X:107821531-107821531 X:108578301-108578301
49 COL4A5 NM_033380.3(COL4A5):c.715G>A (p.Gly239Arg)SNV Pathogenic 587094 rs1569490603 X:107821548-107821548 X:108578318-108578318
50 COL4A5 NM_033380.3(COL4A5):c.759_760AG[1] (p.Glu254fs)short repeat Pathogenic 587259 rs104886443 X:107821592-107821593 X:108578362-108578363

UniProtKB/Swiss-Prot genetic disease variations for Alport Syndrome 1, X-Linked:

73 (show top 50) (show all 145)
# Symbol AA change Variation ID SNP ID
1 COL4A5 p.Gly54Asp VAR_001914 rs104886043
2 COL4A5 p.Gly129Glu VAR_001915 rs281874723
3 COL4A5 p.Gly129Val VAR_001916 rs281874723
4 COL4A5 p.Gly174Arg VAR_001917 rs104886055
5 COL4A5 p.Gly177Arg VAR_001918 rs104886056
6 COL4A5 p.Gly216Arg VAR_001919 rs104886067
7 COL4A5 p.Gly219Ser VAR_001920 rs104886075
8 COL4A5 p.Gly289Val VAR_001921 rs104886450
9 COL4A5 p.Gly292Val VAR_001922 rs104886078
10 COL4A5 p.Gly325Glu VAR_001923 rs104886091
11 COL4A5 p.Gly325Arg VAR_001924 rs104886088
12 COL4A5 p.Gly365Glu VAR_001925 rs104886096
13 COL4A5 p.Gly371Glu VAR_001927 rs104886097
14 COL4A5 p.Gly374Ala VAR_001928 rs104886108
15 COL4A5 p.Gly383Asp VAR_001929 rs104886105
16 COL4A5 p.Gly400Glu VAR_001930 rs104886107
17 COL4A5 p.Gly406Val VAR_001931 rs104886100
18 COL4A5 p.Gly409Asp VAR_001932 rs104886101
19 COL4A5 p.Gly466Glu VAR_001936 rs104886114
20 COL4A5 p.Gly494Asp VAR_001937 rs104886118
21 COL4A5 p.Gly521Cys VAR_001939 rs104886121
22 COL4A5 p.Gly521Ser VAR_001940 rs104886121
23 COL4A5 p.Gly567Ala VAR_001941 rs104886137
24 COL4A5 p.Gly609Val VAR_001942 rs104886140
25 COL4A5 p.Gly638Val VAR_001943 rs104886134
26 COL4A5 p.Gly638Ala VAR_001944 rs104886134
27 COL4A5 p.Gly653Arg VAR_001945 rs104886150
28 COL4A5 p.Gly684Val VAR_001947 rs104886160
29 COL4A5 p.Gly740Glu VAR_001948 rs104886165
30 COL4A5 p.Gly772Asp VAR_001949 rs104886173
31 COL4A5 p.Gly796Arg VAR_001950 rs104886177
32 COL4A5 p.Gly852Arg VAR_001951 rs104886186
33 COL4A5 p.Gly866Glu VAR_001952 rs104886188
34 COL4A5 p.Gly869Arg VAR_001953 rs104886189
35 COL4A5 p.Gly872Arg VAR_001954 rs104886190
36 COL4A5 p.Gly1104Val VAR_001956 rs104886224
37 COL4A5 p.Gly1143Asp VAR_001957 rs104886229
38 COL4A5 p.Gly1143Ser VAR_001958 rs104886228
39 COL4A5 p.Gly1182Arg VAR_001959 rs104886242
40 COL4A5 p.Gly1241Cys VAR_001960 rs104886255
41 COL4A5 p.Gly1270Ser VAR_001961 rs104886257
42 COL4A5 p.Gly1379Val VAR_001962 rs104886269
43 COL4A5 p.Arg1410Cys VAR_001963 rs104886270
44 COL4A5 p.Gly1421Trp VAR_001964 rs104886272
45 COL4A5 p.Arg1422Cys VAR_001965 rs144282156
46 COL4A5 p.Gly1451Ser VAR_001966 rs104886280
47 COL4A5 p.Ala1498Asp VAR_001967 rs104886284
48 COL4A5 p.Pro1517Thr VAR_001968 rs201220208
49 COL4A5 p.Trp1538Ser VAR_001969 rs104886293
50 COL4A5 p.Arg1563Gln VAR_001970 rs281874743

Expression for Alport Syndrome 1, X-Linked

Search GEO for disease gene expression data for Alport Syndrome 1, X-Linked.

Pathways for Alport Syndrome 1, X-Linked

Pathways related to Alport Syndrome 1, X-Linked according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.4 COL4A5 COL4A4
2
Show member pathways
12.33 COL4A5 COL4A4
3
Show member pathways
12.26 COL4A5 COL4A4
4 12.25 COL4A5 COL4A4
5
Show member pathways
12.16 COL4A5 COL4A4
6
Show member pathways
12.09 COL4A5 COL4A4
7
Show member pathways
12.03 COL4A5 COL4A4
8
Show member pathways
11.65 COL4A5 COL4A4
9 11.44 COL4A5 COL4A4
10 11.4 COL4A5 COL4A4
11 11.33 COL4A5 COL4A4
12 11.19 COL4A5 COL4A4
13 11.04 COL4A5 COL4A4
14 10.85 COL4A5 COL4A4
15 10.56 COL4A5 COL4A4
16 10.45 COL4A5 COL4A4
17 10.19 COL4A5 COL4A4

GO Terms for Alport Syndrome 1, X-Linked

Cellular components related to Alport Syndrome 1, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.37 COL4A5 COL4A4
2 endoplasmic reticulum lumen GO:0005788 9.32 COL4A5 COL4A4
3 extracellular matrix GO:0031012 9.26 COL4A5 COL4A4
4 basement membrane GO:0005604 9.16 COL4A5 COL4A4
5 collagen trimer GO:0005581 8.96 COL4A5 COL4A4
6 collagen type IV trimer GO:0005587 8.62 COL4A5 COL4A4

Biological processes related to Alport Syndrome 1, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.96 COL4A5 COL4A4
2 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.62 COL4A5 COL4A4

Molecular functions related to Alport Syndrome 1, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.96 COL4A5 COL4A4
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL4A5 COL4A4

Sources for Alport Syndrome 1, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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