MCID: ATS076
MIFTS: 32

Autosomal Recessive Stickler Syndrome

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

Aliases & Classifications for Autosomal Recessive Stickler Syndrome

MalaCards integrated aliases for Autosomal Recessive Stickler Syndrome:

Name: Autosomal Recessive Stickler Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive stickler syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

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


Summaries for Autosomal Recessive Stickler Syndrome

MalaCards based summary : Autosomal Recessive Stickler Syndrome is related to vitreoretinal degeneration and retinal detachment. An important gene associated with Autosomal Recessive Stickler Syndrome is COL9A3 (Collagen Type IX Alpha 3 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include bone and eye, and related phenotypes are genu valgum and short stature

Related Diseases for Autosomal Recessive Stickler Syndrome

Diseases in the Stickler Syndrome family:

Stickler Syndrome, Type I Stickler Syndrome, Type Ii
Stickler Syndrome, Type Iv Stickler Syndrome, Type V
Autosomal Recessive Stickler Syndrome

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 vitreoretinal degeneration 29.8 COL9A2 COL11A1
2 retinal detachment 29.4 COL9A2 COL9A1 COL11A1
3 intervertebral disc disease 29.4 COL9A3 COL9A2 COL11A1
4 cleft palate, isolated 28.9 COL9A2 COL9A1 COL11A1
5 multiple epiphyseal dysplasia 28.9 COL9A3 COL9A2 COL9A1 COL11A1
6 myopia 28.8 LOXL3 COL9A2 COL9A1 COL11A1
7 stickler syndrome 28.5 LOXL3 COL9A3 COL9A2 COL9A1 COL11A1
8 sensorineural hearing loss 10.2
9 stickler syndrome, type i 10.1
10 stickler syndrome, type iv 10.1
11 stickler syndrome, type v 10.1
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
13 arthropathy 10.1
14 cataract 10.1
15 vitreoretinopathy 10.1
16 back pain 9.9 COL9A3 COL9A2
17 osteochondrosis 9.8 COL9A3 COL9A1
18 macroglossia 9.8 COL9A1 COL11A1
19 otospondylomegaepiphyseal dysplasia, autosomal dominant 9.8 COL9A1 COL11A1
20 hypochondrogenesis 9.8 COL9A2 COL9A1
21 fibrochondrogenesis 9.7 COL9A2 COL11A1
22 multiple epiphyseal dysplasia due to collagen 9 anomaly 9.6 COL9A3 COL9A2 COL9A1
23 multiple epiphyseal dysplasia, autosomal dominant 9.6 COL9A3 COL9A2 COL9A1
24 epiphyseal dysplasia, multiple, 6 9.6 COL9A3 COL9A2 COL9A1
25 epiphyseal dysplasia, multiple, 3 9.6 COL9A3 COL9A2 COL9A1
26 epiphyseal dysplasia, multiple, 5 9.6 COL9A3 COL9A2 COL9A1
27 epiphyseal dysplasia, multiple, 2 9.5 COL9A3 COL9A2 COL9A1
28 campomelic dysplasia 9.5 COL9A2 COL9A1
29 epiphyseal dysplasia, multiple, 1 9.5 COL9A3 COL9A2 COL9A1
30 atelosteogenesis 9.5 COL9A3 COL9A2 COL9A1
31 epiphyseal dysplasia, multiple, 4 9.5 COL9A3 COL9A2 COL9A1
32 osteochondritis dissecans 9.5 COL9A3 COL9A2 COL9A1
33 bone deterioration disease 9.5 COL9A3 COL9A2 COL9A1
34 diastrophic dysplasia 9.5 COL9A3 COL9A2 COL9A1
35 bone structure disease 9.5 COL9A3 COL9A2 COL9A1
36 pseudoachondroplasia 9.5 COL9A3 COL9A2 COL9A1
37 bone development disease 9.5 COL9A3 COL9A2 COL9A1
38 spondyloepimetaphyseal dysplasia, matrilin-3 related 9.5 COL9A1 COL11A1
39 vitreous syneresis 9.2 COL9A3 COL9A2 COL9A1 COL11A1
40 otospondylomegaepiphyseal dysplasia 9.2 COL9A3 COL9A2 COL9A1 COL11A1
41 kniest dysplasia 9.2 COL9A3 COL9A2 COL9A1 COL11A1
42 achondrogenesis 9.2 COL9A3 COL9A2 COL9A1 COL11A1
43 spinal stenosis 9.2 COL9A3 COL9A2 COL9A1 COL11A1
44 spondyloepiphyseal dysplasia with congenital joint dislocations 9.2 COL9A3 COL9A2 COL9A1 COL11A1
45 odontochondrodysplasia 9.2 COL9A3 COL9A2 COL9A1 COL11A1

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



Diseases related to Autosomal Recessive Stickler Syndrome

Symptoms & Phenotypes for Autosomal Recessive Stickler Syndrome

Human phenotypes related to Autosomal Recessive Stickler Syndrome:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002857
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
4 epiphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002656
5 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
6 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
7 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
8 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
9 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
10 platyspondyly 58 31 frequent (33%) Frequent (79-30%) HP:0000926
11 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
12 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
13 retinal detachment 58 31 frequent (33%) Frequent (79-30%) HP:0000541
14 amblyopia 58 31 frequent (33%) Frequent (79-30%) HP:0000646
15 astigmatism 58 31 frequent (33%) Frequent (79-30%) HP:0000483
16 irregular vertebral endplates 58 31 frequent (33%) Frequent (79-30%) HP:0003301
17 vitreoretinopathy 31 frequent (33%) HP:0007773
18 abnormality of epiphysis morphology 58 Frequent (79-30%)
19 vitreoretinal degeneration 58 Frequent (79-30%)

GenomeRNAi Phenotypes related to Autosomal Recessive Stickler Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 8.92 COL11A1 COL9A1 COL9A2 COL9A3

MGI Mouse Phenotypes related to Autosomal Recessive Stickler Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.13 COL11A1 COL9A1 COL9A2
2 skeleton MP:0005390 8.92 COL11A1 COL9A1 COL9A2 LOXL3

Drugs & Therapeutics for Autosomal Recessive Stickler Syndrome

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

Genetic Tests for Autosomal Recessive Stickler Syndrome

Anatomical Context for Autosomal Recessive Stickler Syndrome

MalaCards organs/tissues related to Autosomal Recessive Stickler Syndrome:

40
Bone, Eye

Publications for Autosomal Recessive Stickler Syndrome

Articles related to Autosomal Recessive Stickler Syndrome:

# Title Authors PMID Year
1
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 61 6
21671392 2011
2
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. 61 6
21421862 2011
3
A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. 6
16909383 2006
4
Stickler Syndrome 6
20301479 2000
5
Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss. 61
31315069 2019
6
LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome. 61
30362103 2019
7
Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation. 61
30450842 2018
8
LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome. 61
25663169 2015
9
Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. 61
24273071 2014

Variations for Autosomal Recessive Stickler Syndrome

Expression for Autosomal Recessive Stickler Syndrome

Search GEO for disease gene expression data for Autosomal Recessive Stickler Syndrome.

Pathways for Autosomal Recessive Stickler Syndrome

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.28 COL9A3 COL9A2 COL9A1 COL11A1
2
Show member pathways
12.92 COL9A3 COL9A2 COL9A1 COL11A1
3
Show member pathways
12.63 COL9A3 COL9A2 COL9A1 COL11A1
4
Show member pathways
12.51 COL9A3 COL9A2 COL9A1
5
Show member pathways
12.44 COL9A3 COL9A2 COL9A1 COL11A1
6
Show member pathways
12.08 LOXL3 COL9A3 COL9A2 COL9A1 COL11A1
7
Show member pathways
11.77 COL9A3 COL9A2 COL9A1
8
Show member pathways
11.67 LOXL3 COL9A3 COL9A2 COL9A1 COL11A1
9 11.19 COL9A3 COL9A2 COL9A1
10 10.98 COL9A3 COL9A1
11 10.9 COL9A3 COL9A2 COL9A1
12 10.53 COL9A3 COL9A2 COL9A1 COL11A1

GO Terms for Autosomal Recessive Stickler Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.8 LOXL3 COL9A3 COL9A2 COL9A1 COL11A1
2 extracellular space GO:0005615 9.77 LOXL3 COL9A3 COL9A2 COL9A1 COL11A1
3 collagen-containing extracellular matrix GO:0062023 9.62 COL9A3 COL9A2 COL9A1 COL11A1
4 endoplasmic reticulum lumen GO:0005788 9.56 COL9A3 COL9A2 COL9A1 COL11A1
5 extracellular matrix GO:0031012 9.46 COL9A3 COL9A2 COL9A1 COL11A1
6 collagen trimer GO:0005581 9.26 COL9A3 COL9A2 COL9A1 COL11A1
7 collagen type IX trimer GO:0005594 8.8 COL9A3 COL9A2 COL9A1

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

# Name GO ID Score Top Affiliating Genes
1 collagen fibril organization GO:0030199 8.96 LOXL3 COL11A1
2 extracellular matrix organization GO:0030198 8.92 COL9A3 COL9A2 COL9A1 COL11A1

Molecular functions related to Autosomal Recessive Stickler Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.26 COL9A3 COL9A2 COL9A1 COL11A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.92 COL9A3 COL9A2 COL9A1 COL11A1

Sources for Autosomal Recessive Stickler Syndrome

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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