APSAR
MCID: ALP105
MIFTS: 45

Alport Syndrome 2, Autosomal Recessive (APSAR)

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 58
Alport Syndrome, Autosomal Recessive 76 30 13 56 6
Autosomal Recessive Alport Syndrome 60
Nephritis-Deafness Syndrome 76
Nephropathy and Deafness 76
Apsar 76
Ats2 58

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive alport syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
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:

33
alport syndrome 2, autosomal recessive:
Inheritance heterogeneous autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

OMIM 58 203780
MeSH 45 D009394
MESH via Orphanet 46 C536587
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C1567744 C2931254
Orphanet 60 ORPHA88919
MedGen 43 C1567744

Summaries for Alport Syndrome 2, Autosomal Recessive

OMIM : 58 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)

MalaCards based summary : Alport Syndrome 2, Autosomal Recessive, also known as alport syndrome, autosomal recessive, is related to focal segmental glomerulosclerosis and autosomal recessive alport syndrome. An important gene associated with Alport Syndrome 2, Autosomal Recessive is COL4A4 (Collagen Type IV Alpha 4 Chain), and among its related pathways/superpathways are Developmental Biology and Integrin Pathway. Affiliated tissues include eye, kidney and endothelial, and related phenotypes are hypertension and hearing impairment

UniProtKB/Swiss-Prot : 76 Alport syndrome, 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

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:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 HP:0000822
2 hearing impairment 33 HP:0000365
3 cataract 33 HP:0000518
4 renal insufficiency 33 HP:0000083
5 proteinuria 33 HP:0000093
6 corneal erosion 33 HP:0200020
7 myopia 33 HP:0000545
8 nephrotic syndrome 33 HP:0000100
9 hematuria 33 HP:0000790
10 stage 5 chronic kidney disease 33 HP:0003774
11 nephritis 33 HP:0000123
12 anterior lenticonus 33 HP:0011501
13 thickening of the glomerular basement membrane 33 HP:0004722
14 diffuse glomerular basement membrane lamellation 33 HP:0030034

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
hypertension

Head And Neck Eyes:
myopia
cataracts
corneal erosions
anterior lenticonus
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

MGI Mouse Phenotypes related to Alport Syndrome 2, Autosomal Recessive:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.13 COL4A3 COL4A4 COL4A5
2 vision/eye MP:0005391 8.8 COL4A3 COL4A4 COL4A5

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

Genetic tests related to Alport Syndrome 2, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Alport Syndrome, Autosomal Recessive 30 COL4A3 COL4A4

Anatomical Context for Alport Syndrome 2, Autosomal Recessive

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

42
Eye, Kidney, Endothelial

Publications for Alport Syndrome 2, Autosomal Recessive

Articles related to Alport Syndrome 2, Autosomal Recessive:

(show all 30)
# Title Authors Year
1
Features of Autosomal Recessive Alport Syndrome: A Systematic Review. ( 30717457 )
2019
2
A unique evolution of the kidney phenotype in a patient with autosomal recessive Alport syndrome. ( 29530752 )
2018
3
Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS). ( 29246570 )
2017
4
COL4A6 is dispensable for autosomal recessive Alport syndrome. ( 27377778 )
2016
5
Alport syndrome and pregnancy: Good obstetric and nephrological outcomes in a pregnant woman with homozygous autosomal recessive Alport syndrome. ( 26628290 )
2016
6
Early RAAS Blockade Exerts Renoprotective Effects in Autosomal Recessive Alport Syndrome. ( 27904025 )
2016
7
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations. ( 27627812 )
2016
8
Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life. ( 26201269 )
2015
9
Novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome. ( 26194984 )
2015
10
Natural history of genetically proven autosomal recessive Alport syndrome. ( 24633401 )
2014
11
A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy. ( 27081500 )
2014
12
A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population. ( 23927549 )
2013
13
A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family. ( 23297803 )
2013
14
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. ( 24052634 )
2013
15
Renal transplantations from parents to siblings with autosomal recessive Alport syndrome caused by a rearrangement in an intronic antisense Alu element in the COL4A3 gene led to different outcomes. ( 28509228 )
2013
16
Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome. ( 22887978 )
2012
17
Novel COL4A3 mutations in African American siblings with autosomal recessive Alport syndrome. ( 18436078 )
2008
18
Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome. ( 17071739 )
2007
19
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families. ( 16338941 )
2006
20
Living related kidney transplantation in a patient with autosomal-recessive Alport syndrome. ( 12823249 )
2003
21
Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome. ( 12325029 )
2002
22
Autosomal recessive Alport syndrome: linkage analysis and clinical features in two families. ( 10193810 )
1999
23
Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. ( 9792860 )
1998
24
A model of autosomal recessive Alport syndrome in English cocker spaniel dogs. ( 9734596 )
1998
25
Ocular manifestations of autosomal recessive Alport syndrome. ( 9361309 )
1997
26
Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome. ( 7633417 )
1995
27
Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis. ( 7780062 )
1995
28
Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution. ( 7783412 )
1995
29
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. ( 7987301 )
1994
30
Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. ( 7987396 )
1994

Variations for Alport Syndrome 2, Autosomal Recessive

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

76 (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

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

6 (show top 50) (show all 473)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL4A3 NM_000091.4(COL4A3): c.40_63del24 (p.Leu14_Leu21del) deletion Pathogenic rs876657397 GRCh38 Chromosome 2, 227164766: 227164789
2 COL4A3 NM_000091.4(COL4A3): c.40_63del24 (p.Leu14_Leu21del) deletion Pathogenic rs876657397 GRCh37 Chromosome 2, 228029482: 228029505
3 COL4A4 NM_000092.4(COL4A4): c.1781A> G (p.Glu594Gly) single nucleotide variant Benign/Likely benign rs35998949 GRCh37 Chromosome 2, 227945181: 227945181
4 COL4A4 NM_000092.4(COL4A4): c.1781A> G (p.Glu594Gly) single nucleotide variant Benign/Likely benign rs35998949 GRCh38 Chromosome 2, 227080465: 227080465
5 COL4A4 NM_000092.4(COL4A4): c.3601G> A (p.Gly1201Ser) single nucleotide variant Pathogenic rs121912858 GRCh37 Chromosome 2, 227896969: 227896969
6 COL4A4 NM_000092.4(COL4A4): c.3601G> A (p.Gly1201Ser) single nucleotide variant Pathogenic rs121912858 GRCh38 Chromosome 2, 227032253: 227032253
7 COL4A4 NM_000092.4(COL4A4): c.3713C> A (p.Ser1238Ter) single nucleotide variant Pathogenic rs121912859 GRCh37 Chromosome 2, 227896765: 227896765
8 COL4A4 NM_000092.4(COL4A4): c.3713C> A (p.Ser1238Ter) single nucleotide variant Pathogenic rs121912859 GRCh38 Chromosome 2, 227032049: 227032049
9 COL4A4 NM_000092.4(COL4A4): c.2690G> A (p.Gly897Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121912860 GRCh37 Chromosome 2, 227920687: 227920687
10 COL4A4 NM_000092.4(COL4A4): c.2690G> A (p.Gly897Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121912860 GRCh38 Chromosome 2, 227055971: 227055971
11 COL4A4 NM_000092.4(COL4A4): c.4129C> T (p.Arg1377Ter) single nucleotide variant Pathogenic rs121912861 GRCh37 Chromosome 2, 227886851: 227886851
12 COL4A4 NM_000092.4(COL4A4): c.4129C> T (p.Arg1377Ter) single nucleotide variant Pathogenic rs121912861 GRCh38 Chromosome 2, 227022135: 227022135
13 COL4A4 NM_000092.4(COL4A4): c.4923C> A (p.Cys1641Ter) single nucleotide variant Pathogenic rs121912862 GRCh37 Chromosome 2, 227872191: 227872191
14 COL4A4 NM_000092.4(COL4A4): c.4923C> A (p.Cys1641Ter) single nucleotide variant Pathogenic rs121912862 GRCh38 Chromosome 2, 227007475: 227007475
15 COL4A4 NM_000092.4(COL4A4): c.4715C> T (p.Pro1572Leu) single nucleotide variant Pathogenic rs121912863 GRCh37 Chromosome 2, 227872828: 227872828
16 COL4A4 NM_000092.4(COL4A4): c.4715C> T (p.Pro1572Leu) single nucleotide variant Pathogenic rs121912863 GRCh38 Chromosome 2, 227008112: 227008112
17 COL4A3 COL4A3, 5-BP DEL, NT4414 deletion Pathogenic
18 COL4A3 NM_000091.4(COL4A3): c.4441C> T (p.Arg1481Ter) single nucleotide variant Pathogenic rs121912824 GRCh37 Chromosome 2, 228172614: 228172614
19 COL4A3 NM_000091.4(COL4A3): c.4441C> T (p.Arg1481Ter) single nucleotide variant Pathogenic rs121912824 GRCh38 Chromosome 2, 227307898: 227307898
20 COL4A3 NM_000091.4(COL4A3): c.4571C> G (p.Ser1524Ter) single nucleotide variant Likely pathogenic rs121912825 GRCh37 Chromosome 2, 228173723: 228173723
21 COL4A3 NM_000091.4(COL4A3): c.4571C> G (p.Ser1524Ter) single nucleotide variant Likely pathogenic rs121912825 GRCh38 Chromosome 2, 227309007: 227309007
22 COL4A3 COL4A3, ALU INS, EX6 insertion Pathogenic
23 COL4A3 NM_000091.4(COL4A3): c.2954G> T (p.Gly985Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121912827 GRCh37 Chromosome 2, 228153938: 228153938
24 COL4A3 NM_000091.4(COL4A3): c.2954G> T (p.Gly985Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121912827 GRCh38 Chromosome 2, 227289222: 227289222
25 COL4A3 NM_000091.4(COL4A3): c.3499G> A (p.Gly1167Arg) single nucleotide variant Pathogenic rs267606745 GRCh37 Chromosome 2, 228159760: 228159760
26 COL4A3 NM_000091.4(COL4A3): c.3499G> A (p.Gly1167Arg) single nucleotide variant Pathogenic rs267606745 GRCh38 Chromosome 2, 227295044: 227295044
27 COL4A4 NM_000092.4(COL4A4): c.2320G> C (p.Gly774Arg) single nucleotide variant Likely pathogenic rs569681869 GRCh37 Chromosome 2, 227924184: 227924184
28 COL4A4 NM_000092.4(COL4A4): c.2320G> C (p.Gly774Arg) single nucleotide variant Likely pathogenic rs569681869 GRCh38 Chromosome 2, 227059468: 227059468
29 COL4A4 NM_000092.4(COL4A4): c.2045A> G (p.Asp682Gly) single nucleotide variant Uncertain significance rs142093416 GRCh37 Chromosome 2, 227927257: 227927257
30 COL4A4 NM_000092.4(COL4A4): c.2045A> G (p.Asp682Gly) single nucleotide variant Uncertain significance rs142093416 GRCh38 Chromosome 2, 227062541: 227062541
31 COL4A3 NM_000091.4(COL4A3): c.833dupT (p.Pro279Alafs) duplication Likely pathogenic rs1363680371 GRCh37 Chromosome 2, 228119376: 228119376
32 COL4A3 NM_000091.4(COL4A3): c.833dupT (p.Pro279Alafs) duplication Likely pathogenic rs1363680371 GRCh38 Chromosome 2, 227254660: 227254660
33 COL4A4 NM_000092.4(COL4A4): c.4041A> G (p.Leu1347=) single nucleotide variant Benign/Likely benign rs16823077 GRCh37 Chromosome 2, 227892658: 227892658
34 COL4A4 NM_000092.4(COL4A4): c.4041A> G (p.Leu1347=) single nucleotide variant Benign/Likely benign rs16823077 GRCh38 Chromosome 2, 227027942: 227027942
35 COL4A4 NM_000092.4(COL4A4): c.2899A> G (p.Ile967Val) single nucleotide variant Benign/Likely benign rs80243096 GRCh37 Chromosome 2, 227917090: 227917090
36 COL4A4 NM_000092.4(COL4A4): c.2899A> G (p.Ile967Val) single nucleotide variant Benign/Likely benign rs80243096 GRCh38 Chromosome 2, 227052374: 227052374
37 COL4A3 NM_000091.4(COL4A3): c.127G> C (p.Gly43Arg) single nucleotide variant Benign rs13424243 GRCh38 Chromosome 2, 227238007: 227238007
38 COL4A3 NM_000091.4(COL4A3): c.127G> C (p.Gly43Arg) single nucleotide variant Benign rs13424243 GRCh37 Chromosome 2, 228102723: 228102723
39 COL4A3 NM_000091.4(COL4A3): c.325-18G> T single nucleotide variant Likely benign rs777117192 GRCh38 Chromosome 2, 227245936: 227245936
40 COL4A3 NM_000091.4(COL4A3): c.325-18G> T single nucleotide variant Likely benign rs777117192 GRCh37 Chromosome 2, 228110652: 228110652
41 COL4A3 NM_000091.4(COL4A3): c.422T> C (p.Leu141Pro) single nucleotide variant Benign rs10178458 GRCh37 Chromosome 2, 228111435: 228111435
42 COL4A3 NM_000091.4(COL4A3): c.422T> C (p.Leu141Pro) single nucleotide variant Benign rs10178458 GRCh38 Chromosome 2, 227246719: 227246719
43 COL4A3 NM_000091.4(COL4A3): c.485A> G (p.Glu162Gly) single nucleotide variant Benign rs6436669 GRCh38 Chromosome 2, 227248459: 227248459
44 COL4A3 NM_000091.4(COL4A3): c.485A> G (p.Glu162Gly) single nucleotide variant Benign rs6436669 GRCh37 Chromosome 2, 228113175: 228113175
45 COL4A3 NM_000091.4(COL4A3): c.805G> A (p.Glu269Lys) single nucleotide variant Benign/Likely benign rs80109666 GRCh37 Chromosome 2, 228118867: 228118867
46 COL4A3 NM_000091.4(COL4A3): c.805G> A (p.Glu269Lys) single nucleotide variant Benign/Likely benign rs80109666 GRCh38 Chromosome 2, 227254151: 227254151
47 COL4A3 NM_000091.4(COL4A3): c.976G> T (p.Asp326Tyr) single nucleotide variant Benign/Likely benign rs55703767 GRCh37 Chromosome 2, 228121101: 228121101
48 COL4A3 NM_000091.4(COL4A3): c.976G> T (p.Asp326Tyr) single nucleotide variant Benign/Likely benign rs55703767 GRCh38 Chromosome 2, 227256385: 227256385
49 COL4A3 NM_000091.4(COL4A3): c.1195C> T (p.Leu399=) single nucleotide variant Benign rs10205042 GRCh37 Chromosome 2, 228128540: 228128540
50 COL4A3 NM_000091.4(COL4A3): c.1195C> T (p.Leu399=) single nucleotide variant Benign rs10205042 GRCh38 Chromosome 2, 227263824: 227263824

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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 COL4A3 COL4A4 COL4A5
2
Show member pathways
12.91 COL4A3 COL4A4 COL4A5
3
Show member pathways
12.65 COL4A3 COL4A4 COL4A5
4
Show member pathways
12.63 COL4A3 COL4A4 COL4A5
5
Show member pathways
12.62 COL4A3 COL4A4 COL4A5
6
Show member pathways
12.58 COL4A3 COL4A4 COL4A5
7
Show member pathways
12.5 COL4A3 COL4A4 COL4A5
8 12.42 COL4A3 COL4A4 COL4A5
9
Show member pathways
12.41 COL4A3 COL4A4 COL4A5
10
Show member pathways
12.32 COL4A3 COL4A4 COL4A5
11
Show member pathways
12.21 COL4A3 COL4A4 COL4A5
12
Show member pathways
11.83 COL4A3 COL4A4 COL4A5
13
Show member pathways
11.81 COL4A3 COL4A4 COL4A5
14 11.61 COL4A3 COL4A4 COL4A5
15 11.56 COL4A3 COL4A4 COL4A5
16 11.51 COL4A3 COL4A4 COL4A5
17 11.37 COL4A3 COL4A4 COL4A5
18 11.22 COL4A3 COL4A4 COL4A5
19 11.02 COL4A3 COL4A4 COL4A5
20 10.73 COL4A3 COL4A4 COL4A5
21 10.62 COL4A3 COL4A4 COL4A5
22 10.37 COL4A3 COL4A4 COL4A5

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 extracellular region GO:0005576 9.61 COL4A3 COL4A4 COL4A5
2 extracellular space GO:0005615 9.54 COL4A3 COL4A4 COL4A5
3 extracellular matrix GO:0031012 9.5 COL4A3 COL4A4 COL4A5
4 endoplasmic reticulum lumen GO:0005788 9.43 COL4A3 COL4A4 COL4A5
5 collagen-containing extracellular matrix GO:0062023 9.4 COL4A3 COL4A5
6 basement membrane GO:0005604 9.33 COL4A3 COL4A4 COL4A5
7 collagen trimer GO:0005581 9.13 COL4A3 COL4A4 COL4A5
8 collagen type IV trimer GO:0005587 8.8 COL4A3 COL4A4 COL4A5

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 9.33 COL4A3 COL4A4 COL4A5
2 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.96 COL4A3 COL4A5
3 glomerular basement membrane development GO:0032836 8.62 COL4A3 COL4A4

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 conferring tensile strength GO:0030020 8.96 COL4A3 COL4A5
2 extracellular matrix structural constituent GO:0005201 8.8 COL4A3 COL4A4 COL4A5

Sources for Alport Syndrome 2, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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