APSAR
MCID: ALP073
MIFTS: 49

Alport Syndrome, Autosomal Recessive (APSAR)

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

Aliases & Classifications for Alport Syndrome, Autosomal Recessive

MalaCards integrated aliases for Alport Syndrome, Autosomal Recessive:

Name: Alport Syndrome, Autosomal Recessive 57 75 29 13 55 6 73
Autosomal Recessive Alport Syndrome 12 53 59 15
Nephropathy and Deafness 53 75
Alport Syndrome Autosomal Recessive 53
Alport Syndrome Recessive Type 53
Nephritis-Deafness Syndrome 75
Apsar 75

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive alport syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
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:

32
alport syndrome, autosomal recessive:
Inheritance heterogeneous autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

OMIM 57 203780
Disease Ontology 12 DOID:0110033
Orphanet 59 ORPHA88919
MESH via Orphanet 45 C536587
UMLS via Orphanet 74 C1567744 C2931254
ICD10 via Orphanet 34 Q87.8
MedGen 42 C1567744
MeSH 44 D009394
UMLS 73 C1567744

Summaries for Alport Syndrome, Autosomal Recessive

NIH Rare Diseases : 53 Autosomal recessive Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About 15 percent of Alport syndrome cases are inherited in an autosomal recessive pattern and are caused by mutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed. 

MalaCards based summary : Alport Syndrome, Autosomal Recessive, also known as autosomal recessive alport syndrome, is related to alport syndrome, autosomal dominant and alport syndrome, x-linked. An important gene associated with Alport Syndrome, Autosomal Recessive is COL4A3 (Collagen Type IV Alpha 3 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

Disease Ontology : 12 An Alport syndrome that has_material -basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q.

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 (301050). Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive; autosomal dominant inheritance (104200) is rare (van der Loop et al., 2000). See also benign familial hematuria (BFH; 141200), a similar but milder disorder. (203780)

UniProtKB/Swiss-Prot : 75 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, Autosomal Recessive

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



Diseases related to Alport Syndrome, Autosomal Recessive

Symptoms & Phenotypes for Alport Syndrome, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Alport Syndrome, Autosomal Recessive:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 hearing impairment 32 HP:0000365
3 cataract 32 HP:0000518
4 renal insufficiency 32 HP:0000083
5 proteinuria 32 HP:0000093
6 corneal erosion 32 HP:0200020
7 myopia 32 HP:0000545
8 nephrotic syndrome 32 HP:0000100
9 hematuria 32 HP:0000790
10 stage 5 chronic kidney disease 32 HP:0003774
11 nephritis 32 HP:0000123
12 anterior lenticonus 32 HP:0011501
13 thickening of the glomerular basement membrane 32 HP:0004722
14 diffuse glomerular basement membrane lamellation 32 HP:0030034

MGI Mouse Phenotypes related to Alport Syndrome, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.86 COL4A3 COL4A4 COL4A5 KLF4 LIN28A LMX1B
2 normal MP:0002873 9.63 COL4A6 KLF4 LIN28A LMX1B MYCL MYH9
3 renal/urinary system MP:0005367 9.35 COL4A3 COL4A4 COL4A5 LMX1B MYH9
4 vision/eye MP:0005391 9.1 COL4A3 COL4A4 COL4A5 KLF4 LMX1B MYH9

Drugs & Therapeutics for Alport Syndrome, Autosomal Recessive

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

Genetic Tests for Alport Syndrome, Autosomal Recessive

Genetic tests related to Alport Syndrome, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Alport Syndrome, Autosomal Recessive 29 COL4A3 COL4A4

Anatomical Context for Alport Syndrome, Autosomal Recessive

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

41
Eye, Kidney, Endothelial

Publications for Alport Syndrome, Autosomal Recessive

Articles related to Alport Syndrome, Autosomal Recessive:

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

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

75 (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
13 COL4A4 p.Pro1572Leu VAR_008155 rs121912863

ClinVar genetic disease variations for Alport Syndrome, Autosomal Recessive:

6 (show top 50) (show all 467)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL4A4 NM_000092.4(COL4A4): c.3601G> A (p.Gly1201Ser) single nucleotide variant Pathogenic rs121912858 GRCh37 Chromosome 2, 227896969: 227896969
2 COL4A4 NM_000092.4(COL4A4): c.3601G> A (p.Gly1201Ser) single nucleotide variant Pathogenic rs121912858 GRCh38 Chromosome 2, 227032253: 227032253
3 COL4A4 NM_000092.4(COL4A4): c.3713C> A (p.Ser1238Ter) single nucleotide variant Pathogenic rs121912859 GRCh37 Chromosome 2, 227896765: 227896765
4 COL4A4 NM_000092.4(COL4A4): c.3713C> A (p.Ser1238Ter) single nucleotide variant Pathogenic rs121912859 GRCh38 Chromosome 2, 227032049: 227032049
5 COL4A4 NM_000092.4(COL4A4): c.2690G> A (p.Gly897Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121912860 GRCh37 Chromosome 2, 227920687: 227920687
6 COL4A4 NM_000092.4(COL4A4): c.2690G> A (p.Gly897Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121912860 GRCh38 Chromosome 2, 227055971: 227055971
7 COL4A4 NM_000092.4(COL4A4): c.4129C> T (p.Arg1377Ter) single nucleotide variant Pathogenic rs121912861 GRCh37 Chromosome 2, 227886851: 227886851
8 COL4A4 NM_000092.4(COL4A4): c.4129C> T (p.Arg1377Ter) single nucleotide variant Pathogenic rs121912861 GRCh38 Chromosome 2, 227022135: 227022135
9 COL4A4 NM_000092.4(COL4A4): c.4923C> A (p.Cys1641Ter) single nucleotide variant Pathogenic rs121912862 GRCh37 Chromosome 2, 227872191: 227872191
10 COL4A4 NM_000092.4(COL4A4): c.4923C> A (p.Cys1641Ter) single nucleotide variant Pathogenic rs121912862 GRCh38 Chromosome 2, 227007475: 227007475
11 COL4A4 NM_000092.4(COL4A4): c.4715C> T (p.Pro1572Leu) single nucleotide variant Pathogenic rs121912863 GRCh37 Chromosome 2, 227872828: 227872828
12 COL4A4 NM_000092.4(COL4A4): c.4715C> T (p.Pro1572Leu) single nucleotide variant Pathogenic rs121912863 GRCh38 Chromosome 2, 227008112: 227008112
13 COL4A3 COL4A3, 5-BP DEL, NT4414 deletion Pathogenic
14 COL4A3 NM_000091.4(COL4A3): c.4441C> T (p.Arg1481Ter) single nucleotide variant Pathogenic rs121912824 GRCh37 Chromosome 2, 228172614: 228172614
15 COL4A3 NM_000091.4(COL4A3): c.4441C> T (p.Arg1481Ter) single nucleotide variant Pathogenic rs121912824 GRCh38 Chromosome 2, 227307898: 227307898
16 COL4A3 NM_000091.4(COL4A3): c.4571C> G (p.Ser1524Ter) single nucleotide variant Likely pathogenic rs121912825 GRCh37 Chromosome 2, 228173723: 228173723
17 COL4A3 NM_000091.4(COL4A3): c.4571C> G (p.Ser1524Ter) single nucleotide variant Likely pathogenic rs121912825 GRCh38 Chromosome 2, 227309007: 227309007
18 COL4A3 COL4A3, ALU INS, EX6 insertion Pathogenic
19 COL4A3 NM_000091.4(COL4A3): c.2954G> T (p.Gly985Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121912827 GRCh37 Chromosome 2, 228153938: 228153938
20 COL4A3 NM_000091.4(COL4A3): c.2954G> T (p.Gly985Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121912827 GRCh38 Chromosome 2, 227289222: 227289222
21 COL4A3 NM_000091.4(COL4A3): c.3499G> A (p.Gly1167Arg) single nucleotide variant Pathogenic rs267606745 GRCh37 Chromosome 2, 228159760: 228159760
22 COL4A3 NM_000091.4(COL4A3): c.3499G> A (p.Gly1167Arg) single nucleotide variant Pathogenic rs267606745 GRCh38 Chromosome 2, 227295044: 227295044
23 COL4A3 NM_000091.4(COL4A3): c.40_63del24 (p.Leu14_Leu21del) deletion Pathogenic rs876657397 GRCh38 Chromosome 2, 227164766: 227164789
24 COL4A3 NM_000091.4(COL4A3): c.40_63del24 (p.Leu14_Leu21del) deletion Pathogenic rs876657397 GRCh37 Chromosome 2, 228029482: 228029505
25 COL4A4 NM_000092.4(COL4A4): c.1781A> G (p.Glu594Gly) single nucleotide variant Benign/Likely benign rs35998949 GRCh37 Chromosome 2, 227945181: 227945181
26 COL4A4 NM_000092.4(COL4A4): c.1781A> G (p.Glu594Gly) single nucleotide variant Benign/Likely benign rs35998949 GRCh38 Chromosome 2, 227080465: 227080465
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 GRCh37 Chromosome 2, 228119376: 228119376
32 COL4A3 NM_000091.4(COL4A3): c.833dupT (p.Pro279Alafs) duplication Likely pathogenic 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, Autosomal Recessive

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

Pathways for Alport Syndrome, Autosomal Recessive

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

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 COL4A3 COL4A4 COL4A5 KLF4 LIN28A MYH9
2
Show member pathways
13.12 COL4A3 COL4A4 COL4A5 COL4A6 MYH9
3
Show member pathways
12.8 COL4A3 COL4A4 COL4A5 COL4A6
4
Show member pathways
12.77 COL4A3 COL4A4 COL4A5 COL4A6
5
Show member pathways
12.77 COL4A3 COL4A4 COL4A5 COL4A6 MYH9
6
Show member pathways
12.73 COL4A3 COL4A4 COL4A5 COL4A6
7
Show member pathways
12.64 COL4A3 COL4A4 COL4A5 COL4A6
8
Show member pathways
12.58 COL4A3 COL4A4 COL4A5 COL4A6
9 12.57 COL4A3 COL4A4 COL4A5 COL4A6
10
Show member pathways
12.49 COL4A3 COL4A4 COL4A5 COL4A6
11
Show member pathways
12.39 COL4A3 COL4A4 COL4A5 COL4A6 MYH9
12
Show member pathways
12 COL4A3 COL4A4 COL4A5 COL4A6 MYH9
13
Show member pathways
11.93 COL4A3 COL4A4 COL4A5 COL4A6
14 11.7 COL4A3 COL4A4 COL4A5 COL4A6
15 11.65 COL4A3 COL4A4 COL4A5 COL4A6
16 11.59 COL4A3 COL4A4 COL4A5 COL4A6
17 11.34 COL4A3 COL4A4 COL4A5 COL4A6
18
Show member pathways
11.3 KLF4 LIN28A
19 11.22 COL4A3 COL4A4 COL4A5
20 11.15 COL4A3 COL4A4 COL4A5 COL4A6
21 10.89 COL4A3 COL4A4 COL4A5 LMX1B MYH9
22 10.86 COL4A3 COL4A4 COL4A5 COL4A6
23 10.77 COL4A3 COL4A4 COL4A5 COL4A6

GO Terms for Alport Syndrome, Autosomal Recessive

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.62 COL4A3 COL4A4 COL4A5 COL4A6
2 endoplasmic reticulum lumen GO:0005788 9.56 COL4A3 COL4A4 COL4A5 COL4A6
3 collagen-containing extracellular matrix GO:0062023 9.54 COL4A3 COL4A5 COL4A6
4 basement membrane GO:0005604 9.46 COL4A3 COL4A4 COL4A5 COL4A6
5 neuromuscular junction GO:0031594 9.4 COL4A5 MYH9
6 collagen trimer GO:0005581 9.26 COL4A3 COL4A4 COL4A5 COL4A6
7 collagen type IV trimer GO:0005587 8.92 COL4A3 COL4A4 COL4A5 COL4A6

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

# Name GO ID Score Top Affiliating Genes
1 stem cell population maintenance GO:0019827 9.32 KLF4 LIN28A
2 somatic stem cell population maintenance GO:0035019 9.26 KLF4 LIN28A
3 extracellular matrix organization GO:0030198 9.26 COL4A3 COL4A4 COL4A5 COL4A6
4 glomerular basement membrane development GO:0032836 9.16 COL4A3 COL4A4
5 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.8 COL4A3 COL4A5 COL4A6

Molecular functions related to Alport Syndrome, 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 9.13 COL4A3 COL4A5 COL4A6
2 extracellular matrix structural constituent GO:0005201 8.92 COL4A3 COL4A4 COL4A5 COL4A6

Sources for Alport Syndrome, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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