MCID: ATS076
MIFTS: 36

Autosomal Recessive Stickler Syndrome

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

Aliases & Classifications for Autosomal Recessive Stickler Syndrome

Summaries for Autosomal Recessive Stickler Syndrome

MalaCards based summary : Autosomal Recessive Stickler Syndrome is related to stickler syndrome and vitreoretinal degeneration, and has symptoms including cleft palate, malar flattening and micrognathia. An important gene associated with Autosomal Recessive Stickler Syndrome is COL9A1 (Collagen Type IX Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include bone and eye, and related phenotypes are Increased gamma-H2AX phosphorylation and hearing/vestibular/ear

Related Diseases for Autosomal Recessive Stickler Syndrome

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:

55 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 55 31 frequent (33%) Frequent (79-30%) HP:0000175
2 malar flattening 55 31 frequent (33%) Frequent (79-30%) HP:0000272
3 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
4 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
5 astigmatism 55 31 frequent (33%) Frequent (79-30%) HP:0000483
6 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
7 retinal detachment 55 31 frequent (33%) Frequent (79-30%) HP:0000541
8 myopia 55 31 frequent (33%) Frequent (79-30%) HP:0000545
9 amblyopia 55 31 frequent (33%) Frequent (79-30%) HP:0000646
10 vitreoretinal degeneration 55 31 frequent (33%) Frequent (79-30%) HP:0000655
11 platyspondyly 55 31 frequent (33%) Frequent (79-30%) HP:0000926
12 epiphyseal dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002656
13 genu valgum 55 31 hallmark (90%) Very frequent (99-80%) HP:0002857
14 irregular vertebral endplates 55 31 frequent (33%) Frequent (79-30%) HP:0003301
15 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
16 joint hyperflexibility 55 31 frequent (33%) Frequent (79-30%) HP:0005692
17 flat face 55 31 hallmark (90%) Very frequent (99-80%) HP:0012368
18 abnormality of epiphysis morphology 55 Frequent (79-30%)

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

25
# 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:

43
# 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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:

38
Bone, Eye

Publications for Autosomal Recessive Stickler Syndrome

Articles related to Autosomal Recessive Stickler Syndrome:

# Title Authors Year
1
LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome. ( 25663169 )
2015
2
Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene. ( 24273071 )
2014
3
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. ( 21421862 )
2011
4
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. ( 21671392 )
2011

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.29 COL11A1 COL9A1 COL9A2 COL9A3
2
Show member pathways
12.92 COL11A1 COL9A1 COL9A2 COL9A3
3
Show member pathways
12.65 COL11A1 COL9A1 COL9A2 COL9A3
4
Show member pathways
12.51 COL9A1 COL9A2 COL9A3
5
Show member pathways
12.47 COL11A1 COL9A1 COL9A2 COL9A3
6
Show member pathways
12.08 COL11A1 COL9A1 COL9A2 COL9A3 LOXL3
7
Show member pathways
11.79 COL9A1 COL9A2 COL9A3
8
Show member pathways
11.73 COL11A1 COL9A1 COL9A2 COL9A3
9
Show member pathways
11.68 COL11A1 COL9A1 COL9A2 COL9A3 LOXL3
10 11.19 COL9A1 COL9A2 COL9A3
11 11.01 COL9A1 COL9A3
12 10.9 COL9A1 COL9A2 COL9A3
13 10.57 COL11A1 COL9A1 COL9A2 COL9A3

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 9.72 COL11A1 COL9A1 COL9A2 COL9A3 LOXL3
2 proteinaceous extracellular matrix GO:0005578 9.56 COL11A1 COL9A1 COL9A2 COL9A3
3 endoplasmic reticulum lumen GO:0005788 9.46 COL11A1 COL9A1 COL9A2 COL9A3
4 collagen trimer GO:0005581 9.26 COL11A1 COL9A1 COL9A2 COL9A3
5 collagen type IX trimer GO:0005594 8.8 COL9A1 COL9A2 COL9A3

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.92 COL11A1 COL9A1 COL9A2 COL9A3

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 conferring tensile strength GO:0030020 8.8 COL9A1 COL9A2 COL9A3

Sources for Autosomal Recessive Stickler Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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