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 macroglossia. 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 malar flattening and genu valgum

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:

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

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

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:

41
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 )
2018
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
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. ( 21671392 )
2011
6
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

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
12.53 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
11.79 COL9A1 COL9A2 COL9A3
7
Show member pathways
11.77 COL11A1 COL9A1 COL9A2 COL9A3
8
Show member pathways
11.68 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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