MCID: STC013
MIFTS: 33

Stickler Syndrome, Type Ii

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

Aliases & Classifications for Stickler Syndrome, Type Ii

MalaCards integrated aliases for Stickler Syndrome, Type Ii:

Name: Stickler Syndrome, Type Ii 54 13 69
Stickler Syndrome, Type 2 50 29
Stickler Syndrome, Beaded Vitreous Type 50
Stickler Syndrome Beaded Vitreous Type 71
Stickler Syndrome, Vitreous Type 2 50
Stickler Syndrome Vitreous Type 2 71
Stickler Syndrome Type Ii 71
Stickler Syndrome Type 2 56
Stickler Syndrome 2 71
Stl 2 50
Stl2 71

Characteristics:

Orphanet epidemiological data:

56
stickler syndrome type 2
Inheritance: Autosomal dominant;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
allelic to marshall syndrome


HPO:

32
stickler syndrome, type ii:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Stickler Syndrome, Type Ii

NIH Rare Diseases : 50 stickler syndromeis 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, type 2, is related to stickler syndrome and stickler syndrome, type i, and has symptoms including myopia, retinal detachment and cleft palate. An important gene associated with Stickler Syndrome, Type Ii is COL11A1 (Collagen Type XI Alpha 1 Chain). Affiliated tissues include bone, eye and tongue.

UniProtKB/Swiss-Prot : 71 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

Symptoms & Phenotypes for Stickler Syndrome, Type Ii

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
retinal detachment
glaucoma
cataract
myopia (onset before 6 years)
type 2 vitreous phenotype (irregularly thickened fiber bundles throughout vitreous cavity)

Head And Neck- Nose:
depressed nasal bridge
anteverted nares

Growth- Height:
normal height

Skeletal:
mild spondyloepiphyseal dysplasia

Skeletal- Hands:
long fingers

Head And Neck- Face:
micrognathia
flat midface

Head And Neck- Mouth:
cleft palate
pierre-robin sequence
bifid uvula

Head And Neck- Ears:
sensorineural hearing loss

Skeletal- Limbs:
slender extremities
joint hypermobility
arthropathy (onset third-fourth decade)


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 myopia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000545
2 retinal detachment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000541
3 cleft palate 56 32 frequent (33%) Frequent (79-30%) HP:0000175
4 cataract 56 32 hallmark (90%) Very frequent (99-80%) HP:0000518
5 sensorineural hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000407
6 retinopathy 56 32 frequent (33%) Frequent (79-30%) HP:0000488
7 corneal opacity 56 32 hallmark (90%) Very frequent (99-80%) HP:0007957
8 abnormality of the vitreous humor 56 32 hallmark (90%) Very frequent (99-80%) HP:0004327
9 micrognathia 32 HP:0000347
10 depressed nasal bridge 32 HP:0005280
11 glaucoma 32 HP:0000501
12 anteverted nares 32 HP:0000463
13 pierre-robin sequence 32 HP:0000201
14 bifid uvula 32 HP:0000193
15 joint hypermobility 32 HP:0001382
16 long fingers 32 HP:0100807
17 midface retrusion 32 HP:0011800
18 arthropathy 32 HP:0003040
19 arachnodactyly 32 HP:0001166
20 spondyloepiphyseal dysplasia 32 HP:0002655
21 malar flattening 32 HP:0000272

Drugs & Therapeutics for Stickler Syndrome, Type Ii

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
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:

71
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_001854.3(COL11A1): c.2754+5G> A single nucleotide variant Pathogenic/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

Sources for Stickler Syndrome, Type Ii

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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43 MESH via Orphanet
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48 NDF-RT
51 NINDS
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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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