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 57 74
Nephropathy and Deafness, X-Linked 57 74
Ats1 57 74
Nephritis-Deafness Syndrome, X-Linked 74
X-Linked Alport Syndrome 59
Ats 57

Characteristics:

Orphanet epidemiological data:

59
x-linked alport syndrome
Inheritance: X-linked dominant; Age of onset: Childhood;

OMIM:

57
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:

32
alport syndrome 1, x-linked:
Inheritance x-linked inheritance heterogeneous x-linked dominant inheritance
Onset and clinical course progressive


Classifications:



External Ids:

MeSH 44 D009394
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1567742
Orphanet 59 ORPHA88917

Summaries for Alport Syndrome 1, X-Linked

UniProtKB/Swiss-Prot : 74 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 leiomyoma and leiomyomatosis. 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 Phospholipase-C Pathway and RNA Polymerase II Transcription Initiation And Promoter Clearance. The drugs Atropine and Parasympatholytics have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and endothelial, and related phenotypes are hypertension and sensorineural hearing impairment

OMIM : 57 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 7788)
# Related Disease Score Top Affiliating Genes
1 leiomyoma 29.0 COL4A6 COL4A5
2 leiomyomatosis 28.6 COL4A6 COL4A5
3 x-linked alport syndrome-diffuse leiomyomatosis 12.5
4 menarche, age at, quantitative trait locus 1 12.4
5 menopause, natural, age at, quantitative trait locus 1 12.3
6 menopause, natural, age at, quantitative trait locus 2 12.3
7 menopause, natural, age at, quantitative trait locus 4 12.3
8 menarche, age at, quantitative trait locus 2 12.2
9 menarche, age at, quantitative trait locus 3 12.2
10 teeth present at birth 12.2
11 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 12.2
12 ear antitragus, tag at base of 12.1
13 pulmonary fungal infections in patients deemed at risk 12.1
14 poliomyelitis in patients with immunodeficiencies deemed at risk 12.1
15 obsolete: tauopathy with a major tau doublet at 60 and 64 kda 12.1
16 obsolete: tauopathy with a major tau at 60 kda 12.1
17 obsolete: tauopathy with a major tau triplet at 60, 64 and 69 kda 12.1
18 obsolete: tauopathy with a major tau doublet at 64 and 69 kda 12.1
19 ataxia-telangiectasia 12.0
20 andersen cardiodysrhythmic periodic paralysis 12.0
21 arterial tortuosity syndrome 11.9
22 antithrombin iii deficiency 11.9
23 ceroid lipofuscinosis, neuronal, 1 11.9
24 leiomyomatosis, diffuse, with alport syndrome 11.8
25 atypical teratoid rhabdoid tumor 11.8
26 nijmegen breakage syndrome 11.8
27 hereditary antithrombin deficiency 11.7
28 ceroid lipofuscinosis, neuronal, 2 11.6
29 alport syndrome 3, autosomal dominant 11.6
30 intermediate coronary syndrome 11.6
31 ceroid lipofuscinosis, neuronal, 5 11.6
32 parkinson disease 10 11.6
33 amme complex 11.6
34 neural tube defects 11.5
35 obsolete: atypical teratoid/rhabdoid tumor 11.4
36 alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 11.4
37 cervical cancer 11.3
38 ceroid lipofuscinosis, neuronal, 6 11.3
39 depression 11.2
40 diarrhea 11.2
41 narcolepsy 11.2
42 bipolar disorder 11.2
43 carpal tunnel syndrome 11.2
44 myeloma, multiple 11.2
45 amyotrophic lateral sclerosis 1 11.2
46 restless legs syndrome 11.2
47 systemic lupus erythematosus 11.2
48 pulmonary disease, chronic obstructive 11.2
49 breast cancer 11.2
50 herpes zoster 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:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 sensorineural hearing impairment 32 HP:0000407
3 ichthyosis 32 HP:0008064
4 renal insufficiency 32 HP:0000083
5 proteinuria 32 HP:0000093
6 corneal erosion 32 HP:0200020
7 myopia 32 HP:0000545
8 thrombocytopenia 32 HP:0001873
9 nephrotic syndrome 32 HP:0000100
10 hypoparathyroidism 32 HP:0000829
11 diffuse leiomyomatosis 32 HP:0006756
12 stage 5 chronic kidney disease 32 HP:0003774
13 nephritis 32 HP:0000123
14 microscopic hematuria 32 HP:0002907
15 lenticonus 32 HP:0001142
16 thickening of the glomerular basement membrane 32 HP:0004722
17 diffuse glomerular basement membrane lamellation 32 HP:0030034
18 developmental cataract 32 HP:0000519
19 anterior lenticonus 32 HP:0011501

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension

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)

Laboratory Abnormalities:
proteinuria
nephrotic syndrome
hematuria, gross and microscopic

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 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atropine Approved, Vet_approved Phase 3 5908-99-6, 51-55-8 174174
2 Parasympatholytics Phase 3
3 Neurotransmitter Agents Phase 3
4 Adjuvants, Anesthesia Phase 3
5 Cholinergic Agents Phase 3
6 Peripheral Nervous System Agents Phase 3
7 Cholinergic Antagonists Phase 3
8 Mydriatics Phase 3
9 Muscarinic Antagonists Phase 3
10 Respiratory System Agents Phase 3
11 Anti-Arrhythmia Agents Phase 3
12 Anesthetics Phase 3
13 Anti-Asthmatic Agents Phase 3
14 Autonomic Agents Phase 3
15 Bronchodilator Agents 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

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:

41
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 140)
# 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. 8 71
12796257 2003
2
A mutation causing Alport syndrome with tardive hearing loss is common in the western United States. 8 71
8651292 1996
3
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome. 8 71
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. 8 71
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. 8 71
1598909 1992
6
Identification of mutations in the COL4A5 collagen gene in Alport syndrome. 8 71
2349482 1990
7
X-linked inheritance of Alport syndrome: family P revisited. 8 71
6650503 1983
8
Evidence of digenic inheritance in Alport syndrome. 8
25575550 2015
9
Clinical utility gene card for: Alport syndrome. 71
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. 8
16133187 2005
11
Genetic cause of X-linked Alport syndrome in a family of domestic dogs. 8
12879362 2003
12
Alport Syndrome 71
20301386 2001
13
Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. 8
10499074 1999
14
New form of X-linked dominant hereditary nephritis in dogs. 8
10188823 1999
15
A model of autosomal recessive Alport syndrome in English cocker spaniel dogs. 8
9734596 1998
16
X-linked Alport syndrome in females. 8
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. 8
9475100 1998
18
Alport syndrome. A review of the ocular manifestations. 8
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. 8
9410904 1997
20
Recurrent corneal erosion associated with Alport's syndrome. Rapid communication. 8
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. 8
9153291 1997
22
Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q. 71
9150741 1997
23
Glomerular ultrastructural findings similar to hereditary nephritis in 4 English cocker spaniels. 8
9127294 1997
24
The clinical spectrum of type IV collagen mutations. 8
9195222 1997
25
Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. 8
8940267 1996
26
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. 8
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. 8
8171024 1994
28
Alport syndrome: a genetic study of 31 families. 8
1483700 1992
29
Kidney transplantation in Alport's syndrome: long-term outcome and allograft anti-GBM nephritis. 8
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. 71
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. 71
1376965 1992
32
Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome. 8
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. 71
1352287 1992
34
De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome. 71
1363780 1992
35
Alport syndrome caused by a 5' deletion within the COL4A5 gene. 71
1577459 1992
36
Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen. 8
1737849 1992
37
Multipoint linkage analysis in X-linked Alport syndrome. 8
1684562 1991
38
Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome. 71
1783380 1991
39
Renal disease in carrier female dogs with X-linked hereditary nephritis. Implications for female patients with this disease. 8
1928300 1991
40
Recurrent corneal epithelial erosions in Alport's syndrome. 8
1750330 1991
41
Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome. 71
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. 8
2339699 1990
43
Localization of the gene for classic Alport syndrome. 8
2565879 1989
44
Linkage studies in X-linked Alport's syndrome. 8
2904407 1988
45
Genetics of classic Alport's syndrome. 8
2902439 1988
46
Alport's syndrome. 8
3054112 1988
47
Diffuse leiomyomatosis in Alport syndrome. 8
3294362 1988
48
Mapping of Alport syndrome to the long arm of the X chromosome. 8
3422540 1988
49
Lens capsule abnormalities in Alport's syndrome. 8
3689194 1987
50
Nonfamilial hematuria associated with glomerular basement membrane alterations characteristic of hereditary nephritis: comparison with hereditary nephritis. 8
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 875)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL4A5 NM_000495.5(COL4A5): c.81+1G> C single nucleotide variant Pathogenic rs281874765 X:107683437-107683437 X:108440207-108440207
2 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic X:107681416-107683436 X:108438186-108440206
3 COL4A5 NM_033380.2(COL4A5): c.(?_-129378)_(81_?)del (p.?) deletion Pathogenic X:107553978-107683436 X:108310748-108440206
4 COL4A5 NM_000495.3(COL4A5): c.1-?_81+?del deletion Pathogenic
5 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic X:107681416-107683436 X:108438186-108440206
6 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic X:107681416-107683436 X:108438186-108440206
7 COL4A5 NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)del deletion Pathogenic X:107681416-107683436 X:108438186-108440206
8 COL4A5 NM_000495.5(COL4A5): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104886050 X:107683356-107683356 X:108440126-108440126
9 COL4A5 NP_203699.1: p.? deletion Pathogenic
10 COL4A5 NP_203699.1: p.? deletion Pathogenic
11 COL4A5 NP_203699.1: p.? deletion Pathogenic
12 COL4A5 NP_203699.1: p.? deletion Pathogenic
13 COL4A5 NP_203699.1: p.? deletion Pathogenic
14 COL4A5 NP_203699.1: p.? deletion Pathogenic
15 COL4A5 NP_203699.1: p.? deletion Pathogenic
16 COL4A5 NM_000495.3(COL4A5): c.1-?_5058+?del deletion Pathogenic
17 COL4A5 NM_000495.5(COL4A5): c.13G> T (p.Gly5Ter) single nucleotide variant Pathogenic rs104886049 X:107683368-107683368 X:108440138-108440138
18 COL4A5 NM_000495.5(COL4A5): c.49_50del (p.Leu17fs) deletion Pathogenic rs104886427 X:107683404-107683405 X:108440174-108440175
19 COL4A5 NM_000495.5(COL4A5): c.65_77del (p.Gln22fs) deletion Pathogenic rs281874760 X:107683420-107683432 X:108440190-108440202
20 COL4A5 NP_203699.1: p.Ala28_Lys1082dup duplication Pathogenic
21 COL4A5 NM_000495.4(COL4A5): c.82-?_465+?del deletion Pathogenic
22 COL4A5 NM_000495.4(COL4A5): c.82-?_1165+?del deletion Pathogenic X:107782976-107829977 X:108539746-108586747
23 COL4A5 NM_000495.4(COL4A5): c.82-?_3246+?del deletion Pathogenic X:107782976-107869579 X:108539746-108626349
24 COL4A5 NM_000495.4(COL4A5): c.82-?_3373+?del deletion Pathogenic X:107683437-107908736 X:108539746-108655457
25 COL4A5 COL4A5: c.82-?_141+?del (p.Ala28_Lys47del) deletion Pathogenic X:107683437-107802293 X:108539746-108539805
26 COL4A5 NM_000495.5(COL4A5): c.87C> A (p.Cys29Ter) single nucleotide variant Pathogenic rs104886048 X:107782981-107782981 X:108539751-108539751
27 COL4A5 NM_000495.5(COL4A5): c.90T> G (p.Tyr30Ter) single nucleotide variant Pathogenic rs104886047 X:107782984-107782984 X:108539754-108539754
28 COL4A5 NM_000495.5(COL4A5): c.142-1G> A single nucleotide variant Pathogenic rs104886323 X:107802293-107802293 X:108559063-108559063
29 COL4A5 NM_000495.4(COL4A5): c.142-?_3373+?del deletion Pathogenic X:107783036-107908736 X:108559064-108655457
30 COL4A5 NM_000495.4(COL4A5): c.142-?_2677+?del deletion Pathogenic X:107783036-107865032 X:108559064-108620426
31 COL4A5 NM_000495.5(COL4A5): c.142G> A (p.Gly48Arg) single nucleotide variant Pathogenic rs281874669 X:107802294-107802294 X:108559064-108559064
32 COL4A5 NP_203699.1: p.Gly51fs insertion Pathogenic
33 COL4A5 COL4A5: c.142-?_231+?del(p.Gly48_Lys77del) deletion Pathogenic X:107783036-107807111 X:108539806-108563881
34 COL4A5 NM_000495.5(COL4A5): c.231+1G> A single nucleotide variant Pathogenic rs104886349 X:107802384-107802384 X:108559154-108559154
35 COL4A5 NM_000495.5(COL4A5): c.232-1G> T single nucleotide variant Pathogenic rs104886350 X:107807111-107807111 X:108563881-108563881
36 COL4A5 NM_000495.5(COL4A5): c.232-1G> A single nucleotide variant Pathogenic rs104886350 X:107807111-107807111 X:108563881-108563881
37 COL4A5 NM_000495.4(COL4A5): c.232-?_2041+?del deletion Pathogenic X:107807112-107844715 X:108559154-108601884
38 COL4A5 NM_000495.4(COL4A5): c.232-?_780+?del deletion Pathogenic
39 COL4A5 NM_000495.4(COL4A5): c.232-?_4510+?del deletion Pathogenic X:107802384-107935977 X:108563882-108687694
40 COL4A5 NM_000495.5(COL4A5): c.276+5G> A single nucleotide variant Pathogenic rs104886365 X:107807161-107807161 X:108563931-108563931
41 COL4A5 NM_000495.5(COL4A5): c.277-1G> T single nucleotide variant Pathogenic rs104886367 X:107811858-107811858 X:108568628-108568628
42 COL4A5 NM_000495.4(COL4A5): c.277-?_609+?del deletion Pathogenic
43 COL4A5 NM_000495.5(COL4A5): c.286G> A (p.Gly96Arg) single nucleotide variant Pathogenic rs281874706 X:107811868-107811868 X:108568638-108568638
44 COL4A5 NM_000495.5(COL4A5): c.322-1G> A single nucleotide variant Pathogenic rs104886375 X:107811988-107811988 X:108568758-108568758
45 COL4A5 NM_000495.5(COL4A5): c.351_359del (p.Pro118_Gly120del) deletion Pathogenic rs104886390 X:107812018-107812026 X:108568788-108568796
46 COL4A5 NM_000495.5(COL4A5): c.385-719G> A single nucleotide variant Pathogenic rs104886396 X:107813924-107813924 X:108570694-108570694
47 COL4A5 NM_000495.5(COL4A5): c.385-1G> C single nucleotide variant Pathogenic rs104886395 X:107814642-107814642 X:108571412-108571412
48 COL4A5 NM_000495.5(COL4A5): c.385G> A (p.Gly129Arg) single nucleotide variant Pathogenic rs281874722 X:107814643-107814643 X:108571413-108571413
49 COL4A5 NM_000495.5(COL4A5): c.386G> A (p.Gly129Glu) single nucleotide variant Pathogenic rs281874723 X:107814644-107814644 X:108571414-108571414
50 COL4A5 NM_000495.5(COL4A5): c.688-3C> G single nucleotide variant Pathogenic rs104886441 X:107821518-107821518 X:108578288-108578288

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

74 (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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.46 COL4A6 COL4A5
2
Show member pathways
12.44 COL4A6 COL4A5
3
Show member pathways
12.43 COL4A6 COL4A5
4
Show member pathways
12.38 COL4A6 COL4A5
5
Show member pathways
12.3 COL4A6 COL4A5
6 12.22 COL4A6 COL4A5
7
Show member pathways
12.2 COL4A6 COL4A5
8
Show member pathways
12.11 COL4A6 COL4A5
9
Show member pathways
11.99 COL4A6 COL4A5
10
Show member pathways
11.63 COL4A6 COL4A5
11
Show member pathways
11.6 COL4A6 COL4A5
12 11.37 COL4A6 COL4A5
13 11.33 COL4A6 COL4A5
14 11.22 COL4A6 COL4A5
15 10.94 COL4A6 COL4A5
16 10.65 COL4A6 COL4A5
17 10.41 COL4A6 COL4A5
18 10.23 COL4A6 COL4A5

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 extracellular matrix GO:0031012 9.37 COL4A6 COL4A5
2 endoplasmic reticulum lumen GO:0005788 9.32 COL4A6 COL4A5
3 collagen-containing extracellular matrix GO:0062023 9.26 COL4A6 COL4A5
4 basement membrane GO:0005604 9.16 COL4A6 COL4A5
5 collagen trimer GO:0005581 8.96 COL4A6 COL4A5
6 collagen type IV trimer GO:0005587 8.62 COL4A6 COL4A5

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 COL4A6 COL4A5
2 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.62 COL4A6 COL4A5

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 COL4A6 COL4A5
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL4A6 COL4A5

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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