MCID: ATS076
MIFTS: 36

Autosomal Recessive Stickler Syndrome

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare 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 stickler syndrome, type iv. 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

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:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002857
2 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
3 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
4 epiphyseal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002656
5 flat face 60 33 hallmark (90%) Very frequent (99-80%) HP:0012368
6 malar flattening 60 33 frequent (33%) Frequent (79-30%) HP:0000272
7 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
8 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
9 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
10 platyspondyly 60 33 frequent (33%) Frequent (79-30%) HP:0000926
11 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
12 myopia 60 33 frequent (33%) Frequent (79-30%) HP:0000545
13 retinal detachment 60 33 frequent (33%) Frequent (79-30%) HP:0000541
14 amblyopia 60 33 frequent (33%) Frequent (79-30%) HP:0000646
15 astigmatism 60 33 frequent (33%) Frequent (79-30%) HP:0000483
16 irregular vertebral endplates 60 33 frequent (33%) Frequent (79-30%) HP:0003301
17 vitreoretinopathy 33 frequent (33%) HP:0007773
18 abnormality of epiphysis morphology 60 Frequent (79-30%)
19 vitreoretinal degeneration 60 Frequent (79-30%)

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

27
# 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:

47
# 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:

42
Bone, Eye

Publications for Autosomal Recessive Stickler Syndrome

Articles related to Autosomal Recessive Stickler Syndrome:

# Title Authors Year
1
LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome. ( 30362103 )
2019
2
Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation. ( 30450842 )
2018
3
LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome. ( 25663169 )
2015
4
Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. ( 24273071 )
2014
5
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. ( 21421862 )
2011
6
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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 COL11A1 COL9A1 COL9A2 COL9A3
2
Show member pathways
12.65 COL11A1 COL9A1 COL9A2 COL9A3
3
Show member pathways
12.52 COL9A1 COL9A2 COL9A3
4
Show member pathways
12.47 COL11A1 COL9A1 COL9A2 COL9A3
5
Show member pathways
12.08 COL11A1 COL9A1 COL9A2 COL9A3 LOXL3
6
Show member pathways
11.8 COL9A1 COL9A2 COL9A3
7
Show member pathways
11.77 COL11A1 COL9A1 COL9A2 COL9A3
8
Show member pathways
11.67 COL11A1 COL9A1 COL9A2 COL9A3 LOXL3
9 11.19 COL9A1 COL9A2 COL9A3
10 11 COL9A1 COL9A3
11 10.9 COL9A1 COL9A2 COL9A3
12 10.53 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 9.77 COL11A1 COL9A1 COL9A2 COL9A3 LOXL3
2 extracellular space GO:0005615 9.72 COL11A1 COL9A1 COL9A2 COL9A3 LOXL3
3 extracellular matrix GO:0031012 9.56 COL11A1 COL9A1 COL9A2 COL9A3
4 endoplasmic reticulum lumen GO:0005788 9.46 COL11A1 COL9A1 COL9A2 COL9A3
5 collagen trimer GO:0005581 9.26 COL11A1 COL9A1 COL9A2 COL9A3
6 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 collagen fibril organization GO:0030199 8.96 COL11A1 LOXL3
2 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 GO:0005201 9.26 COL11A1 COL9A1 COL9A2 COL9A3
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.92 COL11A1 COL9A1 COL9A2 COL9A3

Sources for Autosomal Recessive Stickler Syndrome

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
Content
Loading form....