MCID: ATS076
MIFTS: 33

Autosomal Recessive Stickler Syndrome

Categories: Eye diseases, Ear diseases, Bone diseases, Fetal diseases, Rare diseases, Genetic 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 laryngomalacia, 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 Integrin Pathway and Phospholipase-C 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:

56 32 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 56 32 frequent (33%) Frequent (79-30%) HP:0000175
2 malar flattening 56 32 frequent (33%) Frequent (79-30%) HP:0000272
3 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
4 sensorineural hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000407
5 astigmatism 56 32 frequent (33%) Frequent (79-30%) HP:0000483
6 cataract 56 32 frequent (33%) Frequent (79-30%) HP:0000518
7 retinal detachment 56 32 frequent (33%) Frequent (79-30%) HP:0000541
8 myopia 56 32 frequent (33%) Frequent (79-30%) HP:0000545
9 amblyopia 56 32 frequent (33%) Frequent (79-30%) HP:0000646
10 vitreoretinal degeneration 56 32 frequent (33%) Frequent (79-30%) HP:0000655
11 platyspondyly 56 32 frequent (33%) Frequent (79-30%) HP:0000926
12 epiphyseal dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002656
13 genu valgum 56 32 hallmark (90%) Very frequent (99-80%) HP:0002857
14 irregular vertebral endplates 56 32 frequent (33%) Frequent (79-30%) HP:0003301
15 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
16 joint hyperflexibility 56 32 frequent (33%) Frequent (79-30%) HP:0005692
17 flat face 56 32 hallmark (90%) Very frequent (99-80%) HP:0012368
18 abnormality of epiphysis morphology 56 Frequent (79-30%)

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

26
id 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:

44
id 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:


id 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:

39
Bone, Eye

Publications for Autosomal Recessive Stickler Syndrome

Articles related to Autosomal Recessive Stickler Syndrome:

id 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
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. ( 21671392 )
2011
4
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. ( 21421862 )
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

GO Terms for Autosomal Recessive Stickler Syndrome

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

id 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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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