MCID: STC013
MIFTS: 40

Stickler Syndrome, Type Ii malady

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

Aliases & Classifications for Stickler Syndrome, Type Ii

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Aliases & Descriptions for Stickler Syndrome, Type Ii:

Name: Stickler Syndrome, Type Ii 49 11 65
Stickler Syndrome 2 67 24
Stickler Syndrome, Beaded Vitreous Type 45
Stickler Syndrome Beaded Vitreous Type 67
Stickler Syndrome, Vitreous Type 2 45
 
Stickler Syndrome Vitreous Type 2 67
Stickler Syndrome Type Ii 67
Stickler Syndrome, Type 2 45
Stl 2 45
Stl2 67

Characteristics:

HPO:

61
stickler syndrome, type ii:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 604841
MedGen34 C1858084
MeSH36 D003240
UMLS65 C1858084

Summaries for Stickler Syndrome, Type Ii

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NIH Rare Diseases:45 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 col11a1-related stickler syndrome, and has symptoms including opacification of the corneal stroma, abnormality of the vitreous humor and myopia. An important gene associated with Stickler Syndrome, Type Ii is COL11A1 (Collagen Type XI Alpha 1), and among its related pathways are Focal Adhesion and Degradation of the extracellular matrix. Affiliated tissues include bone, eye and tongue, and related mouse phenotype hearing/vestibular/ear.

UniProtKB/Swiss-Prot:67 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:49 604841

Related Diseases for Stickler Syndrome, Type Ii

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



Diseases related to stickler syndrome, type ii

Symptoms for Stickler Syndrome, Type Ii

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Symptoms by clinical synopsis from OMIM:

604841

Clinical features from OMIM:

604841

HPO human phenotypes related to Stickler Syndrome, Type Ii:

(show all 27)
id Description Frequency HPO Source Accession
1 opacification of the corneal stroma hallmark (90%) HP:0007759
2 abnormality of the vitreous humor hallmark (90%) HP:0004327
3 myopia hallmark (90%) HP:0000545
4 retinal detachment hallmark (90%) HP:0000541
5 cataract hallmark (90%) HP:0000518
6 sensorineural hearing impairment hallmark (90%) HP:0000407
7 retinopathy typical (50%) HP:0000488
8 cleft palate typical (50%) HP:0000175
9 long fingers HP:0100807
10 obsolete flat midface HP:0040199
11 depressed nasal bridge HP:0005280
12 abnormality of the vitreous humor HP:0004327
13 arthropathy HP:0003040
14 spondyloepiphyseal dysplasia HP:0002655
15 joint hypermobility HP:0001382
16 arachnodactyly HP:0001166
17 myopia HP:0000545
18 retinal detachment HP:0000541
19 cataract HP:0000518
20 glaucoma HP:0000501
21 anteverted nares HP:0000463
22 sensorineural hearing impairment HP:0000407
23 micrognathia HP:0000347
24 malar flattening HP:0000272
25 pierre-robin sequence HP:0000201
26 bifid uvula HP:0000193
27 cleft palate HP:0000175

Drugs & Therapeutics for Stickler Syndrome, Type Ii

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Skeletal Disorders and Short StatureCompletedNCT00001754

Search NIH Clinical Center for Stickler Syndrome, Type Ii

Genetic Tests for Stickler Syndrome, Type Ii

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Anatomical Context for Stickler Syndrome, Type Ii

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

33
Bone, Eye, Tongue

Animal Models for Stickler Syndrome, Type Ii or affiliated genes

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MGI Mouse Phenotypes related to Stickler Syndrome, Type Ii:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1COL11A1, COL2A1

Publications for Stickler Syndrome, Type Ii

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Variations for Stickler Syndrome, Type Ii

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

67
id Symbol AA change Variation ID SNP ID
1COL11A1p.Gly625ValVAR_013583
2COL11A1p.Gly676ArgVAR_013584
3COL11A1p.Gly1516ValVAR_013587
4COL11A1p.Gly565ValVAR_063675
5COL11A1p.Gly1027ArgVAR_063676
6COL11A1p.Gly1513AspVAR_063678

Clinvar genetic disease variations for Stickler Syndrome, Type Ii:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL11A1NM_080629.2(COL11A1): c.1910G> T (p.Gly637Val)single nucleotide variantPathogenicrs121912943GRCh37Chr 1, 103470189: 103470189
2COL11A1COL11A1, 54-BP EX DEL, AS, AG-TGdeletionPathogenic

Expression for genes affiliated with Stickler Syndrome, Type Ii

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

Pathways for genes affiliated with Stickler Syndrome, Type Ii

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GO Terms for genes affiliated with Stickler Syndrome, Type Ii

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:00060299.6COL11A1, COL2A1
2collagen fibril organizationGO:00301999.6COL11A1, COL2A1
3cartilage condensationGO:00015029.6COL11A1, COL2A1
4cartilage developmentGO:00512169.4COL11A1, COL2A1
5collagen catabolic processGO:00305749.2COL11A1, COL2A1
6sensory perception of soundGO:00076059.1COL11A1, COL2A1
7extracellular matrix organizationGO:00301989.0COL11A1, COL2A1
8extracellular matrix disassemblyGO:00226178.8COL11A1, COL2A1

Sources for Stickler Syndrome, Type Ii

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet