MCID: STC013
MIFTS: 29

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 57 13 40 73
Stickler Syndrome, Type 2 76 53 29 6
Stickler Syndrome, Beaded Vitreous Type 57 53
Stickler Syndrome, Vitreous Type 2 57 53
Stl2 57 75
Stickler Syndrome Beaded Vitreous Type 75
Stickler Syndrome Vitreous Type 2 75
Stickler Syndrome Type Ii 75
Stickler Syndrome Type 2 59
Stickler Syndrome 2 75
Stl 2 53

Characteristics:

Orphanet epidemiological data:

59
stickler syndrome type 2
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
allelic to marshall syndrome


HPO:

32
stickler syndrome, type ii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 604841
Orphanet 59 ORPHA90654
MESH via Orphanet 45 C537493
UMLS via Orphanet 74 C1858084
ICD10 via Orphanet 34 Q87.5
MedGen 42 C1858084
MeSH 44 D003240
UMLS 73 C1858084

Summaries for Stickler Syndrome, Type Ii

NIH Rare Diseases : 53 Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The symptoms of Stickler syndrome may vary but include near-sightedness (myopia), retinal detachment, underdevelopment of the middle of the face, and the development of arthritis at a young age. Stickler syndrome is caused by genetic changes (mutations or pathogenic variants) in one of six genes: COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, or COL9A3. The syndrome can be inherited in an autosomal dominant or autosomal recessive manner. Stickler syndrome can be diagnosed when a doctor observes many symptoms consistent with the syndrome. Genetic testing can be used to confirm the diagnosis. Treatment for Stickler syndrome may include surgeries, medications to reduce joint pain, and hearing aids. Stickler syndrome can be divided into subtypes based on the pathogenic variant that is causing the syndrome. You can view more information about some of these subtypes by clicking on the links below: Stickler syndrome type 1 Stickler syndrome type 2 Stickler syndrome type 3

MalaCards based summary : Stickler Syndrome, Type Ii, also known as stickler syndrome, type 2, is related to stickler syndrome. An important gene associated with Stickler Syndrome, Type Ii is COL11A1 (Collagen Type XI Alpha 1 Chain). Affiliated tissues include bone, eye and testes, and related phenotypes are cataract and corneal opacity

UniProtKB/Swiss-Prot : 75 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 : 76 Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) 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 10.0

Symptoms & Phenotypes for Stickler Syndrome, Type Ii

Symptoms via clinical synopsis from OMIM:

57
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:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
2 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007957
3 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
4 retinopathy 59 32 frequent (33%) Frequent (79-30%) HP:0000488
5 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
6 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
7 retinal detachment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000541
8 malar flattening 32 HP:0000272
9 depressed nasal bridge 32 HP:0005280
10 anteverted nares 32 HP:0000463
11 micrognathia 32 HP:0000347
12 glaucoma 32 HP:0000501
13 arachnodactyly 32 HP:0001166
14 joint hypermobility 32 HP:0001382
15 midface retrusion 32 HP:0011800
16 abnormality of the vitreous humor 59 Very frequent (99-80%)
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
22 abnormal vitreous humor morphology 32 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 29 COL11A1

Anatomical Context for Stickler Syndrome, Type Ii

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

41
Bone, Eye, Testes, 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:

75
# 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
(show all 19)
# 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 NM_080629.2(COL11A1): c.1910G> T (p.Gly637Val) single nucleotide variant Pathogenic rs121912943 GRCh38 Chromosome 1, 103004633: 103004633
3 COL11A1 COL11A1, 54-BP EX DEL, AS, AG-TG deletion Pathogenic
4 COL11A1 NM_080629.2(COL11A1): c.3204+1G> T single nucleotide variant Pathogenic rs886042653 GRCh37 Chromosome 1, 103427421: 103427421
5 COL11A1 NM_080629.2(COL11A1): c.3204+1G> T single nucleotide variant Pathogenic rs886042653 GRCh38 Chromosome 1, 102961865: 102961865
6 COL11A1 NM_080629.2(COL11A1): c.4034_4045delGTGACAAGGGTG (p.Gly1345_Gly1348del) deletion Likely pathogenic rs886042660 GRCh37 Chromosome 1, 103379216: 103379227
7 COL11A1 NM_080629.2(COL11A1): c.4034_4045delGTGACAAGGGTG (p.Gly1345_Gly1348del) deletion Likely pathogenic rs886042660 GRCh38 Chromosome 1, 102913660: 102913671
8 COL11A1 NM_080629.2(COL11A1): c.2405G> A (p.Gly802Asp) single nucleotide variant Likely pathogenic rs886044242 GRCh37 Chromosome 1, 103455099: 103455099
9 COL11A1 NM_080629.2(COL11A1): c.2405G> A (p.Gly802Asp) single nucleotide variant Likely pathogenic rs886044242 GRCh38 Chromosome 1, 102989543: 102989543
10 COL11A1 NM_080629.2(COL11A1): c.4590+1G> C single nucleotide variant Pathogenic rs886044244 GRCh37 Chromosome 1, 103354278: 103354278
11 COL11A1 NM_080629.2(COL11A1): c.4590+1G> C single nucleotide variant Pathogenic rs886044244 GRCh38 Chromosome 1, 102888722: 102888722
12 COL11A1 NM_001854.3(COL11A1): c.2754+5G> A single nucleotide variant Pathogenic rs1057518666 GRCh37 Chromosome 1, 103444259: 103444259
13 COL11A1 NM_001854.3(COL11A1): c.2754+5G> A single nucleotide variant Pathogenic rs1057518666 GRCh38 Chromosome 1, 102978703: 102978703
14 COL11A1 NM_001854.3(COL11A1): c.4547G> T (p.Gly1516Val) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 1, 103354286: 103354286
15 COL11A1 NM_001854.3(COL11A1): c.4547G> T (p.Gly1516Val) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 1, 102888730: 102888730
16 COL11A1 NM_080629.2(COL11A1): c.4068+1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 103379192: 103379192
17 COL11A1 NM_080629.2(COL11A1): c.4068+1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 102913636: 102913636
18 COL11A1 NM_080629.2(COL11A1): c.3604T> C (p.Phe1202Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 102934481: 102934481
19 COL11A1 NM_080629.2(COL11A1): c.3604T> C (p.Phe1202Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 103400037: 103400037

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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