MCID: STC013
MIFTS: 31

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 53 13 69
Stickler Syndrome, Type 2 72 49 28
Stickler Syndrome, Beaded Vitreous Type 53 49
Stickler Syndrome, Vitreous Type 2 53 49
Stl2 53 71
Stickler Syndrome Beaded Vitreous Type 71
Stickler Syndrome Vitreous Type 2 71
Stickler Syndrome Type Ii 71
Stickler Syndrome Type 2 55
Stickler Syndrome 2 71
Stl 2 49

Characteristics:

Orphanet epidemiological data:

55
stickler syndrome type 2
Inheritance: Autosomal dominant;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
allelic to marshall syndrome


HPO:

31
stickler syndrome, type ii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 604841
Orphanet 55 ORPHA90654
MESH via Orphanet 42 C537493
UMLS via Orphanet 70 C1858084
ICD10 via Orphanet 33 Q87.5
MedGen 39 C1858084
MeSH 41 D003240
UMLS 69 C1858084

Summaries for Stickler Syndrome, Type Ii

NIH Rare Diseases : 49 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 3, 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). 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.

Wikipedia : 72 Stickler syndrome (hereditary progressive arthro-ophthalmopathy) is a group of genetic disorders... more...

Description from OMIM: 604841

Related Diseases for Stickler Syndrome, Type Ii

Diseases in the Stickler Syndrome family:

Stickler Syndrome, Type I Stickler Syndrome, Type Ii
Stickler Syndrome, Type Iv Stickler Syndrome, Type V
Stickler Syndrome, Type 3 Autosomal Recessive Stickler Syndrome

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

# Related Disease Score Top Affiliating Genes
1 stickler syndrome 11.4
2 stickler syndrome, type 3 11.1
3 stickler syndrome, type i 11.1
4 blood group, i system 9.8

Symptoms & Phenotypes for Stickler Syndrome, Type Ii

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
cataract
glaucoma
retinal detachment
myopia (onset before 6 years)
type 2 vitreous phenotype (irregularly thickened fiber bundles throughout vitreous cavity)

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

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

Head And Neck Ears:
sensorineural hearing loss

Skeletal:
mild spondyloepiphyseal dysplasia

Head And Neck Nose:
depressed nasal bridge
anteverted nares

Head And Neck Face:
micrognathia
flat midface

Skeletal Hands:
long fingers

Growth Height:
normal height


Clinical features from OMIM:

604841

Human phenotypes related to Stickler Syndrome, Type Ii:

55 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 55 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 corneal opacity 55 31 hallmark (90%) Very frequent (99-80%) HP:0007957
3 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
4 retinopathy 55 31 frequent (33%) Frequent (79-30%) HP:0000488
5 cleft palate 55 31 frequent (33%) Frequent (79-30%) HP:0000175
6 myopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000545
7 retinal detachment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000541
8 malar flattening 31 HP:0000272
9 depressed nasal bridge 31 HP:0005280
10 anteverted nares 31 HP:0000463
11 micrognathia 31 HP:0000347
12 glaucoma 31 HP:0000501
13 arachnodactyly 31 HP:0001166
14 joint hypermobility 31 HP:0001382
15 midface retrusion 31 HP:0011800
16 abnormality of the vitreous humor 55 Very frequent (99-80%)
17 bifid uvula 31 HP:0000193
18 pierre-robin sequence 31 HP:0000201
19 long fingers 31 HP:0100807
20 arthropathy 31 HP:0003040
21 spondyloepiphyseal dysplasia 31 HP:0002655
22 abnormal vitreous humor morphology 31 hallmark (90%) HP:0004327

Drugs & Therapeutics for Stickler Syndrome, Type Ii

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 Stickler Syndrome, Type Ii

Genetic Tests for Stickler Syndrome, Type Ii

Genetic tests related to Stickler Syndrome, Type Ii:

# Genetic test Affiliating Genes
1 Stickler Syndrome, Type 2 28 COL11A1

Anatomical Context for Stickler Syndrome, Type Ii

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

38
Bone, Eye, Tongue

Publications for Stickler Syndrome, Type Ii

Articles related to Stickler Syndrome, Type Ii:

# Title Authors Year
1
A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures. ( 28971234 )
2018
2
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
# 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
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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