MCID: ATS076
MIFTS: 30

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 59

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive stickler syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q87.5
Orphanet 59 ORPHA250984

Summaries for Autosomal Recessive Stickler Syndrome

MalaCards based summary : Autosomal Recessive Stickler Syndrome is related to vitreoretinal degeneration and multiple epiphyseal dysplasia. An important gene associated with Autosomal Recessive Stickler Syndrome is COL9A1 (Collagen Type IX Alpha 1 Chain), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include bone and eye, and related phenotypes are genu valgum and sensorineural hearing impairment

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
Stickler Syndrome, Type 3 Autosomal Recessive Stickler Syndrome

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 vitreoretinal degeneration 29.9 COL9A2 COL11A1
2 multiple epiphyseal dysplasia 29.4 COL9A3 COL9A2 COL9A1
3 myopia 29.3 LOXL3 COL9A2 COL11A1
4 intervertebral disc disease 29.2 COL9A3 COL9A2 COL11A1
5 stickler syndrome 28.1 LOXL3 COL9A3 COL9A2 COL9A1 COL11A1
6 retinal detachment 10.2
7 sensorineural hearing loss 10.2
8 stickler syndrome, type i 10.1
9 cleft palate, isolated 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 collagenopathy type 2 alpha 1 10.1
16 vitreoretinopathy 10.1
17 macroglossia 10.0 COL9A1 COL11A1
18 epiphyseal dysplasia, multiple, 3 9.9 COL9A3 COL9A2
19 epiphyseal dysplasia, multiple, 5 9.8 COL9A3 COL9A2
20 donnai-barrow syndrome 9.8 COL9A1 COL11A1
21 bone deterioration disease 9.7 COL9A3 COL9A2
22 bone structure disease 9.6 COL9A3 COL9A2
23 multiple epiphyseal dysplasia due to collagen 9 anomaly 9.5 COL9A3 COL9A2 COL9A1
24 strabismus 9.5 COL9A1 COL11A1
25 epiphyseal dysplasia, multiple, 2 9.5 COL9A3 COL9A2 COL9A1
26 epiphyseal dysplasia, multiple, 4 9.5 COL9A3 COL9A2 COL9A1
27 epiphyseal dysplasia, multiple, 1 9.5 COL9A3 COL9A2 COL9A1
28 osteochondritis dissecans 9.5 COL9A3 COL9A2 COL9A1
29 spinal stenosis 9.5 COL9A3 COL9A2 COL9A1
30 pseudoachondroplasia 9.5 COL9A3 COL9A2 COL9A1

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:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857
2 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
3 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
4 epiphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002656
5 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
6 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
7 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
8 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
9 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
10 platyspondyly 59 32 frequent (33%) Frequent (79-30%) HP:0000926
11 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
12 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
13 retinal detachment 59 32 frequent (33%) Frequent (79-30%) HP:0000541
14 amblyopia 59 32 frequent (33%) Frequent (79-30%) HP:0000646
15 astigmatism 59 32 frequent (33%) Frequent (79-30%) HP:0000483
16 irregular vertebral endplates 59 32 frequent (33%) Frequent (79-30%) HP:0003301
17 vitreoretinopathy 32 frequent (33%) HP:0007773
18 abnormality of epiphysis morphology 59 Frequent (79-30%)
19 vitreoretinal degeneration 59 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.33 COL11A1 COL9A1 COL9A2
2 limbs/digits/tail MP:0005371 9.13 COL11A1 COL9A1 COL9A2
3 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:

41
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. 38 71
21671392 2011
2
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. 38 71
21421862 2011
3
A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. 71
16909383 2006
4
Stickler Syndrome 71
20301479 2000
5
Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss. 38
31315069 2019
6
LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome. 38
30362103 2019
7
Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation. 38
30450842 2018
8
LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome. 38
25663169 2015
9
Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. 38
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
12.93 COL9A3 COL9A2 COL9A1 COL11A1
2
Show member pathways
12.65 COL9A3 COL9A2 COL9A1 COL11A1
3
Show member pathways
12.52 COL9A3 COL9A2 COL9A1
4
Show member pathways
12.47 COL9A3 COL9A2 COL9A1 COL11A1
5
Show member pathways
12.08 LOXL3 COL9A3 COL9A2 COL9A1 COL11A1
6
Show member pathways
11.8 COL9A3 COL9A2 COL9A1
7
Show member pathways
11.77 COL9A3 COL9A2 COL9A1 COL11A1
8
Show member pathways
11.67 LOXL3 COL9A3 COL9A2 COL9A1 COL11A1
9 11.19 COL9A3 COL9A2 COL9A1
10 11 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 9.77 LOXL3 COL9A3 COL9A2 COL9A1 COL11A1
2 extracellular space GO:0005615 9.72 LOXL3 COL9A3 COL9A2 COL9A1 COL11A1
3 extracellular matrix GO:0031012 9.56 COL9A3 COL9A2 COL9A1 COL11A1
4 endoplasmic reticulum lumen GO:0005788 9.46 COL9A3 COL9A2 COL9A1 COL11A1
5 collagen trimer GO:0005581 9.26 COL9A3 COL9A2 COL9A1 COL11A1
6 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 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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