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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Sources:
12diseasecard, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Stickler Syndrome, Type Ii:

Name: Stickler Syndrome, Type Ii 52 12 68
Stickler Syndrome 2 70 27
Stickler Syndrome, Beaded Vitreous Type 48
Stickler Syndrome Beaded Vitreous Type 70
Stickler Syndrome, Vitreous Type 2 48
Stickler Syndrome Vitreous Type 2 70
 
Stickler Syndrome, Type 2 48
Stickler Syndrome Type Ii 70
Stickler Syndrome Type 2 54
Stl 2 48
Stl2 70

Characteristics:

Orphanet epidemiological data:

54
stickler syndrome type 2:
Inheritance: Autosomal dominant

HPO:

64
stickler syndrome, type ii:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 604841
Orphanet54 ORPHA90654
MESH via Orphanet40 C537493
UMLS via Orphanet69 C1858084
ICD10 via Orphanet31 Q87.5
MedGen37 C1858084
MeSH39 D003240

Summaries for Stickler Syndrome, Type Ii

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NIH Rare Diseases:48 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, type i and col11a1-related stickler syndrome, and has symptoms including sensorineural hearing impairment, cataract and retinal detachment. An important gene associated with Stickler Syndrome, Type Ii is COL11A1 (Collagen Type XI Alpha 1 Chain), and among its related pathways are Focal Adhesion and Degradation of the extracellular matrix. Affiliated tissues include eye, bone and tongue.

UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes for Stickler Syndrome, Type Ii

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Symptoms by clinical synopsis from OMIM:

604841

Clinical features from OMIM:

604841

Human phenotypes related to Stickler Syndrome, Type Ii:

 64 54 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0000407
2 cataract64 54 hallmark (90%) Very frequent (99-80%) HP:0000518
3 retinal detachment64 54 hallmark (90%) Very frequent (99-80%) HP:0000541
4 myopia64 54 hallmark (90%) Very frequent (99-80%) HP:0000545
5 abnormality of the vitreous humor64 54 hallmark (90%) Very frequent (99-80%) HP:0004327
6 opacification of the corneal stroma64 hallmark (90%) HP:0007759
7 cleft palate64 54 typical (50%) Frequent (79-30%) HP:0000175
8 retinopathy64 54 typical (50%) Frequent (79-30%) HP:0000488
9 bifid uvula64 HP:0000193
10 pierre-robin sequence64 HP:0000201
11 malar flattening64 HP:0000272
12 micrognathia64 HP:0000347
13 anteverted nares64 HP:0000463
14 glaucoma64 HP:0000501
15 arachnodactyly64 HP:0001166
16 joint hypermobility64 HP:0001382
17 spondyloepiphyseal dysplasia64 HP:0002655
18 arthropathy64 HP:0003040
19 depressed nasal bridge64 HP:0005280
20 obsolete flat midface64 HP:0040199
21 long fingers64 HP:0100807
22 corneal opacity54 Very frequent (99-80%)

Drugs & Therapeutics for Stickler Syndrome, Type Ii

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Skeletal Disorders and Short StatureCompletedNCT00001754
2Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

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Genetic Tests for Stickler Syndrome, Type Ii

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Genetic tests related to Stickler Syndrome, Type Ii:

id Genetic test Affiliating Genes
1 Stickler Syndrome, Type 227

Anatomical Context for Stickler Syndrome, Type Ii

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

36
Eye, Bone, Tongue

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:

70
id Symbol AA change Variation ID SNP ID
1COL11A1p.Gly625ValVAR_013583rs121912943
2COL11A1p.Gly676ArgVAR_013584rs749663226
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)SNVPathogenicrs121912943GRCh37Chr 1, 103470189: 103470189
2COL11A1COL11A1, 54-BP EX DEL, AS, AG-TGdeletionPathogenicChr na, -1: -1
3COL11A1NM_080629.2(COL11A1): c.3204+1G> TSNVPathogenicrs886042653GRCh37Chr 1, 103427421: 103427421
4COL11A1NM_080629.2(COL11A1): c.4034_4045delGTGACAAGGGTG (p.Gly1345_Gly1348del)deletionLikely pathogenicrs886042660GRCh37Chr 1, 103379216: 103379227
5COL11A1NM_080629.2(COL11A1): c.2405G> A (p.Gly802Asp)SNVLikely pathogenicrs886044242GRCh37Chr 1, 103455099: 103455099
6COL11A1NM_080629.2(COL11A1): c.4590+1G> CSNVPathogenicrs886044244GRCh37Chr 1, 103354278: 103354278

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

idNameGO IDScoreTop Affiliating Genes
1collagen trimerGO:00055819.8COL11A1, COL2A1
2endoplasmic reticulum lumenGO:00057889.8COL11A1, COL2A1
3extracellular matrixGO:00310129.8COL11A1, COL2A1
4proteinaceous extracellular matrixGO:00055789.1COL11A1, COL2A1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1cartilage condensationGO:00015029.8COL11A1, COL2A1
2cartilage developmentGO:00512169.8COL11A1, COL2A1
3collagen catabolic processGO:00305749.8COL11A1, COL2A1
4collagen fibril organizationGO:00301999.8COL11A1, COL2A1
5extracellular matrix organizationGO:00301989.8COL11A1, COL2A1
6heart morphogenesisGO:00030079.8COL11A1, COL2A1
7inner ear morphogenesisGO:00424729.8COL11A1, COL2A1
8ossificationGO:00015039.8COL11A1, COL2A1
9proteoglycan metabolic processGO:00060299.8COL11A1, COL2A1
10sensory perception of soundGO:00076059.7COL11A1, COL2A1
11skeletal system morphogenesisGO:00487059.7COL11A1, COL2A1
12visual perceptionGO:00076019.1COL11A1, COL2A1

Sources for Stickler Syndrome, Type Ii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet