STL2
MCID: STC013
MIFTS: 41

Stickler Syndrome, Type Ii (STL2) malady

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

Aliases & Classifications for Stickler Syndrome, Type Ii

Aliases & Descriptions for Stickler Syndrome, Type Ii:

Name: Stickler Syndrome, Type Ii 54 13 69
Stickler Syndrome 2 66 29
Stickler Syndrome, Beaded Vitreous Type 50
Stickler Syndrome Beaded Vitreous Type 66
Stickler Syndrome, Vitreous Type 2 50
Stickler Syndrome Vitreous Type 2 66
Stickler Syndrome, Type 2 50
Stickler Syndrome Type Ii 66
Stickler Syndrome Type 2 56
Stl 2 50
Stl2 66

Characteristics:

Orphanet epidemiological data:

56
stickler syndrome type 2
Inheritance: Autosomal dominant;

HPO:

32
stickler syndrome, type ii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 604841
Orphanet 56 ORPHA90654
MESH via Orphanet 43 C537493
UMLS via Orphanet 70 C1858084
ICD10 via Orphanet 34 Q87.5
MedGen 40 C1858084
MeSH 42 D003240

Summaries for Stickler Syndrome, Type Ii

NIH Rare Diseases : 50 stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. the features vary widely among affected people. stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predominantly ocular type. both are caused by mutations in the col2a1 gene. stickler syndrome type ii, sometimes called the beaded vitreous type, is caused by mutations in the col11a1 gene. stickler syndrome type iii, sometimes called the nonocular form, is caused by mutations in the col11a2 gene. these forms of stickler syndrome are inherited in an autosomal dominant manner. stickler syndrome type iv is caused by mutations in the col9a1 gene, and stickler syndrome type v is caused by mutations in the col9a2 gene. these types of stickler syndrome are inherited in an autosomal recessive manner. last updated: 2/8/2012

MalaCards based summary : Stickler Syndrome, Type Ii, also known as stickler syndrome 2, is related to stickler syndrome and stickler syndrome, type i, and has symptoms including cataract, corneal opacity and sensorineural hearing impairment. An important gene associated with Stickler Syndrome, Type Ii is COL11A1 (Collagen Type XI Alpha 1 Chain), and among its related pathways/superpathways are Focal Adhesion and Collagen chain trimerization. Affiliated tissues include bone, eye and tongue.

UniProtKB/Swiss-Prot : 66 Stickler syndrome 2: An autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable.

Description from OMIM: 604841

Related Diseases for Stickler Syndrome, Type Ii

Diseases in the Stickler Syndrome family:

Stickler Syndrome, Type V Stickler Syndrome, Type Ii
Stickler Syndrome, Type Iii Stickler Syndrome, Type Iv
Stickler Syndrome, Type I Col11a1-Related Stickler Syndrome
Col11a2-Related Stickler Syndrome Col2a1-Related Stickler Syndrome
Col9a1-Related Stickler Syndrome Col9a2-Related Stickler Syndrome
Autosomal Recessive Stickler Syndrome

Diseases related to Stickler Syndrome, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
id Related Disease Score Top Affiliating Genes
1 stickler syndrome 11.3
2 stickler syndrome, type i 11.1
3 col11a1-related stickler syndrome 11.1
4 stickler syndrome, type iii 11.0
5 marshall syndrome 10.0 COL11A1 COL2A1
6 fibrochondrogenesis 1 10.0 COL11A1 COL2A1
7 plantar nerve lesion 10.0 COL11A1 COL2A1
8 moyamoya disease 9.9 COL11A1 COL2A1
9 deafness, autosomal dominant 13 9.9 COL11A1 COL2A1
10 warm antibody hemolytic anemia 9.9 COL11A1 COL2A1
11 laryngomalacia 9.9 COL11A1 COL2A1
12 ureter cancer 9.9 COL11A1 COL2A1
13 adult-onset still's disease 9.9 COL11A1 COL2A1
14 epiphyseal dysplasia, multiple, with myopia and deafness 9.9 COL11A1 COL2A1
15 albright's hereditary osteodystrophy 9.9 COL11A1 COL2A1
16 smed strudwick type 9.9 COL11A1 COL2A1
17 neuropathy, distal hereditary motor, type iia 9.9 COL11A1 COL2A1
18 charcot-marie-tooth disease type 5 9.8 COL11A1 COL2A1
19 clubfoot 9.8 COL11A1 COL2A1
20 anterograde amnesia 9.8 COL11A1 COL2A1
21 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 9.7 COL11A1 COL2A1

Graphical network of the top 20 diseases related to Stickler Syndrome, Type Ii:



Diseases related to Stickler Syndrome, Type Ii

Symptoms & Phenotypes for Stickler Syndrome, Type Ii

Symptoms by clinical synopsis from OMIM:

604841

Clinical features from OMIM:

604841

Human phenotypes related to Stickler Syndrome, Type Ii:

56 32 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 56 32 Very frequent (99-80%) HP:0000518
2 corneal opacity 56 32 Very frequent (99-80%) HP:0007957
3 sensorineural hearing impairment 56 32 Very frequent (99-80%) HP:0000407
4 retinopathy 56 32 Frequent (79-30%) HP:0000488
5 cleft palate 56 32 Frequent (79-30%) HP:0000175
6 myopia 56 32 Very frequent (99-80%) HP:0000545
7 retinal detachment 56 32 Very frequent (99-80%) HP:0000541
8 abnormality of the vitreous humor 56 32 Very frequent (99-80%) HP:0004327
9 malar flattening 32 HP:0000272
10 depressed nasal bridge 32 HP:0005280
11 anteverted nares 32 HP:0000463
12 micrognathia 32 HP:0000347
13 glaucoma 32 HP:0000501
14 arachnodactyly 32 HP:0001166
15 joint hypermobility 32 HP:0001382
16 midface retrusion 32 HP:0011800
17 bifid uvula 32 HP:0000193
18 pierre-robin sequence 32 HP:0000201
19 long fingers 32 HP:0100807
20 arthropathy 32 HP:0003040
21 spondyloepiphyseal dysplasia 32 HP:0002655

Drugs & Therapeutics for Stickler Syndrome, Type Ii

Interventional clinical trials:


id Name Status NCT ID Phase
1 Study of Skeletal Disorders and Short Stature Completed NCT00001754
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Stickler Syndrome, Type Ii

Genetic Tests for Stickler Syndrome, Type Ii

Genetic tests related to Stickler Syndrome, Type Ii:

id Genetic test Affiliating Genes
1 Stickler Syndrome, Type 2 29

Anatomical Context for Stickler Syndrome, Type Ii

MalaCards organs/tissues related to Stickler Syndrome, Type Ii:

39
Bone, Eye, Tongue

Publications for Stickler Syndrome, Type Ii

Articles related to Stickler Syndrome, Type Ii:

id Title Authors Year
1
A mild form of Stickler syndrome type II caused by mosaicism of COL11A1. ( 28315471 )
2017

Variations for Stickler Syndrome, Type Ii

UniProtKB/Swiss-Prot genetic disease variations for Stickler Syndrome, Type Ii:

66
id Symbol AA change Variation ID SNP ID
1 COL11A1 p.Gly625Val VAR_013583 rs121912943
2 COL11A1 p.Gly676Arg VAR_013584 rs749663226
3 COL11A1 p.Gly1516Val VAR_013587
4 COL11A1 p.Gly565Val VAR_063675
5 COL11A1 p.Gly1027Arg VAR_063676
6 COL11A1 p.Gly1513Asp VAR_063678

ClinVar genetic disease variations for Stickler Syndrome, Type Ii:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 COL11A1 NM_080629.2(COL11A1): c.1910G> T (p.Gly637Val) single nucleotide variant Pathogenic rs121912943 GRCh37 Chromosome 1, 103470189: 103470189
2 COL11A1 COL11A1, 54-BP EX DEL, AS, AG-TG deletion Pathogenic
3 COL11A1 NM_080629.2(COL11A1): c.3204+1G> T single nucleotide variant Pathogenic rs886042653 GRCh37 Chromosome 1, 103427421: 103427421
4 COL11A1 NM_080629.2(COL11A1): c.4034_4045delGTGACAAGGGTG (p.Gly1345_Gly1348del) deletion Likely pathogenic rs886042660 GRCh37 Chromosome 1, 103379216: 103379227
5 COL11A1 NM_080629.2(COL11A1): c.2405G> A (p.Gly802Asp) single nucleotide variant Likely pathogenic rs886044242 GRCh37 Chromosome 1, 103455099: 103455099
6 COL11A1 NM_080629.2(COL11A1): c.4590+1G> C single nucleotide variant Pathogenic rs886044244 GRCh37 Chromosome 1, 103354278: 103354278
7 COL11A1 NM_080629.2(COL11A1): c.2790+5G> A single nucleotide variant Likely pathogenic rs1057518666 GRCh37 Chromosome 1, 103444259: 103444259

Expression for Stickler Syndrome, Type Ii

Search GEO for disease gene expression data for Stickler Syndrome, Type Ii.

Pathways for Stickler Syndrome, Type Ii

GO Terms for Stickler Syndrome, Type Ii

Cellular components related to Stickler Syndrome, Type Ii according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.26 COL11A1 COL2A1
2 extracellular matrix GO:0031012 9.16 COL11A1 COL2A1
3 endoplasmic reticulum lumen GO:0005788 8.96 COL11A1 COL2A1
4 collagen trimer GO:0005581 8.62 COL11A1 COL2A1

Biological processes related to Stickler Syndrome, Type Ii according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.51 COL11A1 COL2A1
2 visual perception GO:0007601 9.49 COL11A1 COL2A1
3 sensory perception of sound GO:0007605 9.48 COL11A1 COL2A1
4 ossification GO:0001503 9.46 COL11A1 COL2A1
5 cartilage development GO:0051216 9.43 COL11A1 COL2A1
6 inner ear morphogenesis GO:0042472 9.4 COL11A1 COL2A1
7 collagen catabolic process GO:0030574 9.37 COL11A1 COL2A1
8 heart morphogenesis GO:0003007 9.32 COL11A1 COL2A1
9 skeletal system morphogenesis GO:0048705 9.26 COL11A1 COL2A1
10 collagen fibril organization GO:0030199 9.16 COL11A1 COL2A1
11 cartilage condensation GO:0001502 8.96 COL11A1 COL2A1
12 proteoglycan metabolic process GO:0006029 8.62 COL11A1 COL2A1

Molecular functions related to Stickler Syndrome, Type Ii according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 COL11A1 COL2A1

Sources for Stickler Syndrome, Type Ii

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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