ATS2
MCID: ALP105
MIFTS: 43

Alport Syndrome 2, Autosomal Recessive (ATS2)

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

Aliases & Classifications for Alport Syndrome 2, Autosomal Recessive

MalaCards integrated aliases for Alport Syndrome 2, Autosomal Recessive:

Name: Alport Syndrome 2, Autosomal Recessive 57 72 6
Ats2 57 72
Autosomal Recessive Alport Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive alport syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
genetic heterogeneity
onset in childhood
hearing loss occurs in late childhood
hearing loss and ocular findings are variable
about 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis


HPO:

31
alport syndrome 2, autosomal recessive:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course progressive


Classifications:

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


External Ids:

OMIM® 57 203780
OMIM Phenotypic Series 57 PS301050
MeSH 44 D009394
MESH via Orphanet 45 C536587
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 71 C1567744 C2931254
Orphanet 58 ORPHA88919

Summaries for Alport Syndrome 2, Autosomal Recessive

OMIM® : 57 Alport syndrome is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal failure. Progressive deafness and ocular anomalies may also occur (Mochizuki et al., 1994; Colville et al. (1997)). For a general phenotypic description of Alport syndrome, see the X-linked dominant form (ATS1; 301050). Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive; autosomal dominant inheritance (ATS3; 104200) is rare (van der Loop et al., 2000). See also benign familial hematuria (BFH; 141200), a similar but milder disorder. (203780) (Updated 05-Apr-2021)

MalaCards based summary : Alport Syndrome 2, Autosomal Recessive, also known as ats2, is related to autosomal recessive alport syndrome and alport syndrome. An important gene associated with Alport Syndrome 2, Autosomal Recessive is COL4A3 (Collagen Type IV Alpha 3 Chain), and among its related pathways/superpathways are Relaxin signaling pathway and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Affiliated tissues include eye, kidney and endothelial, and related phenotypes are hypertension and hearing impairment

UniProtKB/Swiss-Prot : 72 Alport syndrome 2, autosomal recessive: 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 2, Autosomal Recessive

Diseases in the Alport Syndrome family:

Alport Syndrome 3, Autosomal Dominant Alport Syndrome 2, Autosomal Recessive
Autosomal Dominant Alport Syndrome Autosomal Recessive Alport Syndrome

Diseases related to Alport Syndrome 2, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive alport syndrome 31.9 MFF-DT COL4A4 COL4A3
2 alport syndrome 31.2 MFF-DT COL4A4 COL4A3
3 alport syndrome 3, autosomal dominant 30.7 MFF-DT COL4A4 COL4A3
4 x-linked alport syndrome 30.2 COL4A4 COL4A3
5 proteinuria, chronic benign 30.1 MFF-DT COL4A4 COL4A3
6 end stage renal disease 30.0 COL4A4 COL4A3
7 glomerulonephritis 29.7 COL4A4 COL4A3
8 hematuria, benign familial 29.3 MFF-DT COL4A4 COL4A3
9 nephrotic syndrome 29.2 MFF-DT COL4A4 COL4A3
10 focal segmental glomerulosclerosis 29.2 COL4A4 COL4A3
11 branchiootic syndrome 1 10.5
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
13 sensorineural hearing loss 10.4
14 autosomal recessive disease 10.4
15 kidney disease 10.3
16 chronic kidney disease 10.2
17 macrocephaly/megalencephaly syndrome, autosomal recessive 10.1
18 mucopolysaccharidosis, type vii 10.1
19 alport syndrome 1, x-linked 10.1
20 hypertensive retinopathy 10.1
21 iga glomerulonephritis 10.1
22 cataract 10.1
23 megalencephaly 10.1
24 rare genetic deafness 10.1
25 hereditary hearing loss and deafness 9.9 MFF-DT COL4A3
26 anti-basement membrane glomerulonephritis 9.8 COL4A4 COL4A3
27 irregular astigmatism 9.8 COL4A4 COL4A3
28 corneal dystrophy, posterior polymorphous, 3 9.8 COL4A4 COL4A3
29 autoimmune disease of urogenital tract 9.7 COL4A4 COL4A3
30 rapidly progressive glomerulonephritis 9.7 COL4A4 COL4A3
31 pierson syndrome 9.7 COL4A4 COL4A3
32 goodpasture syndrome 9.7 COL4A4 COL4A3
33 familial nephrotic syndrome 9.7 COL4A4 COL4A3
34 nail-patella syndrome 9.7 COL4A4 COL4A3
35 porencephaly 9.7 COL4A4 COL4A3
36 leiomyomatosis 9.7 COL4A4 COL4A3
37 fuchs' endothelial dystrophy 9.6 COL4A4 COL4A3
38 corneal dystrophy, posterior polymorphous, 1 9.6 COL4A4 COL4A3
39 keratoconus 9.5 COL4A4 COL4A3
40 autosomal dominant alport syndrome 9.5 MFF-DT COL4A4 COL4A3

Graphical network of the top 20 diseases related to Alport Syndrome 2, Autosomal Recessive:



Diseases related to Alport Syndrome 2, Autosomal Recessive

Symptoms & Phenotypes for Alport Syndrome 2, Autosomal Recessive

Human phenotypes related to Alport Syndrome 2, Autosomal Recessive:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 hearing impairment 31 HP:0000365
3 cataract 31 HP:0000518
4 proteinuria 31 HP:0000093
5 renal insufficiency 31 HP:0000083
6 myopia 31 HP:0000545
7 nephrotic syndrome 31 HP:0000100
8 hematuria 31 HP:0000790
9 corneal erosion 31 HP:0200020
10 stage 5 chronic kidney disease 31 HP:0003774
11 nephritis 31 HP:0000123
12 anterior lenticonus 31 HP:0011501
13 thickened glomerular basement membrane 31 HP:0004722
14 glomerular basement membrane lamellation 31 HP:0030034

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Vascular:
hypertension

Head And Neck Eyes:
myopia
anterior lenticonus
cataracts
corneal erosions
lens opacities
more
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
Laboratory Abnormalities:
proteinuria
nephrotic syndrome
hematuria, gross and microscopic

Head And Neck Ears:
deafness, sensorineural, especially affecting high frequencies

Clinical features from OMIM®:

203780 (Updated 05-Apr-2021)

Drugs & Therapeutics for Alport Syndrome 2, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Alport Syndrome 2, Autosomal Recessive

Genetic Tests for Alport Syndrome 2, Autosomal Recessive

Anatomical Context for Alport Syndrome 2, Autosomal Recessive

MalaCards organs/tissues related to Alport Syndrome 2, Autosomal Recessive:

40
Eye, Kidney, Endothelial

Publications for Alport Syndrome 2, Autosomal Recessive

Articles related to Alport Syndrome 2, Autosomal Recessive:

(show top 50) (show all 68)
# Title Authors PMID Year
1
Evidence of digenic inheritance in Alport syndrome. 6 57
25575550 2015
2
A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population. 6 57
23927549 2014
3
Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. 6 57
11044206 2000
4
The clinical spectrum of type IV collagen mutations. 57 6
9195222 1997
5
Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. 57 6
7987396 1994
6
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. 57 6
7987301 1994
7
A no-nonsense approach to hereditary kidney disease. 6
31807928 2020
8
A Novel Heterozygous Mutation of the COL4A3 Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family. 6
30881523 2019
9
Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis. 6
28632965 2017
10
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. 6
28117080 2017
11
Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome. 6
28542346 2017
12
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. 6
28570636 2017
13
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome. 6
27281700 2016
14
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis. 6
26346198 2016
15
Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy. 6
26809805 2016
16
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations. 6
27627812 2016
17
Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders. 6
26934356 2016
18
Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families. 6
25307543 2015
19
Study of the True Clinical Progression of Autosomal Dominant Alport Syndrome in a European Population. 6
26277931 2015
20
A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers. 6
25450602 2015
21
Repository of mutations from Oman: The entry point to a national mutation database. 6
26594346 2015
22
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
23
Improving mutation screening in familial hematuric nephropathies through next generation sequencing. 6
24854265 2014
24
COL4A3 mutations cause focal segmental glomerulosclerosis. 6
25596306 2014
25
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. 6
24033287 2014
26
Natural history of genetically proven autosomal recessive Alport syndrome. 6
24633401 2014
27
Gonadal mosaicism as a rare cause of autosomal recessive inheritance. 57
23551117 2014
28
COL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome. 6
25755845 2014
29
Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing. 6
25514610 2014
30
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. 6
24052634 2013
31
A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family. 6
23297803 2013
32
Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome. 6
22887978 2012
33
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. 6
19129241 2009
34
Novel COL4A3 mutations in African American siblings with autosomal recessive Alport syndrome. 6
18436078 2008
35
Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria. 6
17396119 2007
36
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families. 6
16338941 2006
37
Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. 6
15954103 2005
38
Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases. 6
14582039 2003
39
Novel COL4A4 splice defect and in-frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome. 6
12748344 2003
40
Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome. 6
12325029 2002
41
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. 6
12028435 2002
42
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. 6
11134255 2001
43
Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. 6
9792860 1998
44
Alport syndrome in Réunion Island: phenotypic heterogeneity of the recessive-autosomal form. 6
9647515 1998
45
Alport syndrome. A review of the ocular manifestations. 57
9457747 1997
46
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. 57
9410904 1997
47
Ocular manifestations of autosomal recessive Alport syndrome. 57
9361309 1997
48
Recurrent corneal erosion associated with Alport's syndrome. Rapid communication. 57
9211364 1997
49
Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome. 6
7633417 1995
50
A COL4A3 gene mutation and post-transplant anti-alpha 3(IV) collagen alloantibodies in Alport syndrome. 57
7783419 1995

Variations for Alport Syndrome 2, Autosomal Recessive

ClinVar genetic disease variations for Alport Syndrome 2, Autosomal Recessive:

6 (show top 50) (show all 376)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL4A4 NM_000092.4(COL4A4):c.3601G>A (p.Gly1201Ser) SNV Pathogenic 17404 rs121912858 GRCh37: 2:227896969-227896969
GRCh38: 2:227032253-227032253
2 COL4A4 NM_000092.4(COL4A4):c.3713C>A (p.Ser1238Ter) SNV Pathogenic 17405 rs121912859 GRCh37: 2:227896765-227896765
GRCh38: 2:227032049-227032049
3 COL4A4 NM_000092.4(COL4A4):c.4923C>A (p.Cys1641Ter) SNV Pathogenic 17408 rs121912862 GRCh37: 2:227872191-227872191
GRCh38: 2:227007475-227007475
4 COL4A3 COL4A3, 5-BP DEL, NT4414 Deletion Pathogenic 17483 GRCh37:
GRCh38:
5 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.1175G>A (p.Gly392Glu) SNV Pathogenic 427770 rs1114167371 GRCh37: 2:228128520-228128520
GRCh38: 2:227263804-227263804
6 COL4A4 NM_000092.4(COL4A4):c.2638_2639del (p.Ala880fs) Deletion Pathogenic 441259 rs1553641611 GRCh37: 2:227920738-227920739
GRCh38: 2:227056022-227056023
7 COL4A4 NM_000092.4(COL4A4):c.4694_4713del (p.Arg1565fs) Deletion Pathogenic 522488 rs1553612433 GRCh37: 2:227872830-227872849
GRCh38: 2:227008114-227008133
8 COL4A3 COL4A3, ALU INS, EX6 Insertion Pathogenic 17488 GRCh37:
GRCh38:
9 COL4A4 NM_000092.4(COL4A4):c.1598G>A (p.Gly533Asp) SNV Pathogenic 556434 rs1553669704 GRCh37: 2:227953394-227953394
GRCh38: 2:227088678-227088678
10 COL4A4 NM_000092.4(COL4A4):c.2638del (p.Ala880fs) Deletion Pathogenic 550471 rs778043831 GRCh37: 2:227920739-227920739
GRCh38: 2:227056023-227056023
11 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.2746+1G>T SNV Pathogenic 807389 rs1574786225 GRCh37: 2:228148573-228148573
GRCh38: 2:227283857-227283857
12 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.2747-1G>T SNV Pathogenic 807390 rs1196996393 GRCh37: 2:228148926-228148926
GRCh38: 2:227284210-227284210
13 COL4A3 NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter) SNV Pathogenic 807562 rs1453590085 GRCh37: 2:228029470-228029470
GRCh38: 2:227164754-227164754
14 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter) SNV Pathogenic 807563 rs750308686 GRCh37: 2:228110696-228110696
GRCh38: 2:227245980-227245980
15 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.816dup (p.Pro273fs) Duplication Pathogenic 807564 rs1574701767 GRCh37: 2:228118877-228118878
GRCh38: 2:227254161-227254162
16 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.2023_2030ATCCCTGG[3] (p.Gly680fs) Microsatellite Pathogenic 555966 rs1553758893 GRCh37: 2:228142166-228142167
GRCh38: 2:227277450-227277451
17 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.3955G>A (p.Gly1319Arg) SNV Pathogenic 373896 rs765661521 GRCh37: 2:228167826-228167826
GRCh38: 2:227303110-227303110
18 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.3490G>T (p.Gly1164Cys) SNV Pathogenic 242439 rs869025325 GRCh37: 2:228159751-228159751
GRCh38: 2:227295035-227295035
19 COL4A4 NM_000092.4(COL4A4):c.4715C>T (p.Pro1572Leu) SNV Pathogenic 17409 rs121912863 GRCh37: 2:227872828-227872828
GRCh38: 2:227008112-227008112
20 COL4A4 NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs) Deletion Pathogenic 992428 GRCh37: 2:227872859-227872859
GRCh38: 2:227008143-227008143
21 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg) SNV Pathogenic 17492 rs267606745 GRCh37: 2:228159760-228159760
GRCh38: 2:227295044-227295044
22 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.3109C>T (p.Arg1037Ter) SNV Pathogenic 554110 rs766900945 GRCh37: 2:228155501-228155501
GRCh38: 2:227290785-227290785
23 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) SNV Pathogenic 807567 rs1574753929 GRCh37: 2:228137737-228137737
GRCh38: 2:227273021-227273021
24 COL4A3 GRCh37/hg19 2q36.3(chr2:228167754-228169799) copy number loss Pathogenic 813304 GRCh37: 2:228167754-228169799
GRCh38:
25 COL4A4 GRCh37/hg19 2q36.3(chr2:227942610-227945265) copy number loss Pathogenic 813305 GRCh37: 2:227942610-227945265
GRCh38:
26 COL4A3 NM_000091.4(COL4A3):c.40_63del (p.Leu14_Leu21del) Deletion Pathogenic 192299 rs876657397 GRCh37: 2:228029472-228029495
GRCh38: 2:227164756-227164779
27 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.4347_4353del (p.Arg1450fs) Deletion Pathogenic 550302 rs748026887 GRCh37: 2:228172517-228172523
GRCh38: 2:227307801-227307807
28 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.2768_2778del (p.Val923fs) Deletion Pathogenic 551819 rs766306957 GRCh37: 2:228148946-228148956
GRCh38: 2:227284230-227284240
29 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.2621_2622delinsT (p.Gly874fs) Indel Pathogenic 551951 rs1553760257 GRCh37: 2:228147213-228147214
GRCh38: 2:227282497-227282498
30 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.4420_4424del5 Microsatellite Pathogenic 556032 rs1445615417 GRCh37: 2:228172584-228172588
GRCh38: 2:227307868-227307872
31 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter) SNV Pathogenic 558496 rs1346138010 GRCh37: 2:228111404-228111404
GRCh38: 2:227246688-227246688
32 COL4A4 NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs) Deletion Pathogenic 915852 GRCh37: 2:227872939-227872940
GRCh38: 2:227008223-227008224
33 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.4441C>T (p.Arg1481Ter) SNV Pathogenic 17484 rs121912824 GRCh37: 2:228172614-228172614
GRCh38: 2:227307898-227307898
34 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.4441C>T (p.Arg1481Ter) SNV Pathogenic 17484 rs121912824 GRCh37: 2:228172614-228172614
GRCh38: 2:227307898-227307898
35 MFF-DT , COL4A3 NM_000091.4(COL4A3):c.1006G>T (p.Gly336Cys) SNV Pathogenic 562453 rs1559873550 GRCh37: 2:228122337-228122337
GRCh38: 2:227257621-227257621
36 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.2371C>T SNV Pathogenic 397514 rs1060499654 GRCh37: 2:228145303-228145303
GRCh38: 2:227280587-227280587
37 MFF-DT , COL4A3 NM_000091.5(COL4A3):c.345del Deletion Pathogenic 554004 rs749390823 GRCh37: 2:228110688-228110688
GRCh38: 2:227245972-227245972
38 COL4A4 NM_000092.5(COL4A4):c.4426C>T (p.Gln1476Ter) SNV Pathogenic 974379 GRCh37: 2:227875125-227875125
GRCh38: 2:227010409-227010409
39 COL4A4 NM_000092.5(COL4A4):c.4508del (p.His1503fs) Deletion Pathogenic 974380 GRCh37: 2:227875043-227875043
GRCh38: 2:227010327-227010327
40 COL4A4 NM_000092.5(COL4A4):c.735+2T>C SNV Pathogenic 974385 GRCh37: 2:227973295-227973295
GRCh38: 2:227108579-227108579
41 COL4A4 NM_000092.5(COL4A4):c.558+1G>A SNV Pathogenic 974382 GRCh37: 2:227979343-227979343
GRCh38: 2:227114627-227114627
42 COL4A4 NM_000092.5(COL4A4):c.559-2A>C SNV Pathogenic 974383 GRCh37: 2:227976431-227976431
GRCh38: 2:227111715-227111715
43 COL4A4 NM_000092.5:c.1205_1369del Deletion Pathogenic 974511 GRCh37:
GRCh38:
44 COL4A4 NM_000092.5(COL4A4):c.1324G>T (p.Gly442Cys) SNV Pathogenic 974512 GRCh37: 2:227958886-227958886
GRCh38: 2:227094170-227094170
45 COL4A4 NM_000092.5(COL4A4):c.2312dup (p.Arg773fs) Duplication Pathogenic 974515 GRCh37: 2:227924191-227924192
GRCh38: 2:227059475-227059476
46 COL4A4 NM_000092.5(COL4A4):c.2908C>T (p.Gln970Ter) SNV Pathogenic 974516 GRCh37: 2:227917081-227917081
GRCh38: 2:227052365-227052365
47 COL4A4 NM_000092.5(COL4A4):c.3205G>C (p.Gly1069Arg) SNV Pathogenic 974517 GRCh37: 2:227914793-227914793
GRCh38: 2:227050077-227050077
48 COL4A4 NM_000092.4(COL4A4):c.4129C>T (p.Arg1377Ter) SNV Pathogenic 17407 rs121912861 GRCh37: 2:227886851-227886851
GRCh38: 2:227022135-227022135
49 COL4A4 NM_000092.4(COL4A4):c.1321_1369+3del Deletion Pathogenic 242441 rs1553676221 GRCh37: 2:227958838-227958889
GRCh38: 2:227094122-227094173
50 COL4A4 NM_000092.5(COL4A4):c.1045C>T SNV Pathogenic 447178 rs534522842 GRCh37: 2:227964390-227964390
GRCh38: 2:227099674-227099674

UniProtKB/Swiss-Prot genetic disease variations for Alport Syndrome 2, Autosomal Recessive:

72 (show all 13)
# Symbol AA change Variation ID SNP ID
1 COL4A3 p.Gly297Glu VAR_011204
2 COL4A3 p.Gly407Arg VAR_011206
3 COL4A3 p.Gly640Arg VAR_011210 rs200672668
4 COL4A3 p.Gly1207Glu VAR_011212
5 COL4A3 p.Gly1277Ser VAR_011215 rs190598500
6 COL4A3 p.Gly1334Glu VAR_011217 rs375290088
7 COL4A3 p.Gly532Asp VAR_030945 rs371405814
8 COL4A3 p.Gly739Arg VAR_030946 rs375040636
9 COL4A3 p.Gly853Arg VAR_030947 rs763726708
10 COL4A3 p.Gly1216Arg VAR_030950
11 COL4A4 p.Gly1201Ser VAR_001913 rs121912858
12 COL4A4 p.Gly1030Val VAR_008153 rs772699709
13 COL4A4 p.Pro1572Leu VAR_008155 rs121912863

Expression for Alport Syndrome 2, Autosomal Recessive

Search GEO for disease gene expression data for Alport Syndrome 2, Autosomal Recessive.

Pathways for Alport Syndrome 2, Autosomal Recessive

Pathways related to Alport Syndrome 2, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.09 COL4A4 COL4A3
2
Show member pathways
12.03 COL4A4 COL4A3
3
Show member pathways
11.65 COL4A4 COL4A3
4 11.44 COL4A4 COL4A3
5 11.4 COL4A4 COL4A3
6 11.33 COL4A4 COL4A3
7 11.19 COL4A4 COL4A3
8 11.04 COL4A4 COL4A3
9 10.85 COL4A4 COL4A3
10 10.56 COL4A4 COL4A3
11 10.19 COL4A4 COL4A3

GO Terms for Alport Syndrome 2, Autosomal Recessive

Cellular components related to Alport Syndrome 2, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.37 COL4A4 COL4A3
2 endoplasmic reticulum lumen GO:0005788 9.32 COL4A4 COL4A3
3 extracellular matrix GO:0031012 9.26 COL4A4 COL4A3
4 basement membrane GO:0005604 9.16 COL4A4 COL4A3
5 collagen trimer GO:0005581 8.96 COL4A4 COL4A3
6 collagen type IV trimer GO:0005587 8.62 COL4A4 COL4A3

Biological processes related to Alport Syndrome 2, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.96 COL4A4 COL4A3
2 glomerular basement membrane development GO:0032836 8.62 COL4A4 COL4A3

Molecular functions related to Alport Syndrome 2, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.96 COL4A4 COL4A3
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL4A4 COL4A3

Sources for Alport Syndrome 2, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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