MCID: STC015
MIFTS: 36

Stickler Syndrome, Type I

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

Aliases & Classifications for Stickler Syndrome, Type I

MalaCards integrated aliases for Stickler Syndrome, Type I:

Name: Stickler Syndrome, Type I 53 13 51
Stickler Syndrome Type 1 49 55 28
Stl1 53 49 71
Aom 53 49 71
Arthroophthalmopathy, Hereditary Progressive 53 49
Stickler Syndrome, Membranous Vitreous Type 53 49
Stickler Syndrome, Vitreous Type 1 53 49
Stickler Syndrome, Type 1 72 69
Arthroophthalmopathy, Hereditary Progressive; Aom 53
Arthro-Ophthalmopathy Hereditary Progressive 71
Stickler Syndrome Membranous Vitreous Type 71
Stickler Syndrome Vitreous Type 1 71
Stickler Syndrome Type I 71
Stickler Syndrome 1 71

Characteristics:

Orphanet epidemiological data:

55
stickler syndrome type 1
Inheritance: Autosomal dominant;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
stickler syndrome, type i:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Stickler Syndrome, Type I

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 I, also known as stickler syndrome type 1, is related to stickler syndrome, type i, nonsyndromic ocular and otitis media, and has symptoms including arthralgia, osteoarthritis and intellectual disability. An important gene associated with Stickler Syndrome, Type I is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include eye, bone and tongue.

OMIM : 53 Stickler syndrome is a clinically variable and genetically heterogeneous disorder characterized by ocular, auditory, skeletal, and orofacial abnormalities. Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts. Additional findings may include midline clefting (cleft palate or bifid uvula), Pierre Robin sequence, flat midface, sensorineural or conductive hearing loss, mild spondyloepiphyseal dysplasia, and early-onset osteoarthritis (summary by Baker et al., 2011). (108300)

UniProtKB/Swiss-Prot : 71 Stickler syndrome 1: 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...

Related Diseases for Stickler Syndrome, Type I

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 I via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 stickler syndrome, type i, nonsyndromic ocular 12.2
2 otitis media 11.5
3 serous glue ear 11.1
4 stickler syndrome 10.1
5 influenza 9.9
6 haemophilus influenzae 9.9
7 ankylosis 9.8

Graphical network of the top 20 diseases related to Stickler Syndrome, Type I:



Diseases related to Stickler Syndrome, Type I

Symptoms & Phenotypes for Stickler Syndrome, Type I

Symptoms via clinical synopsis from OMIM:

53
Chest RibsSternum Clavicles And Scapulae:
pectus excavatum

Head And Neck Nose:
depressed nasal bridge
anteverted nares

Head And Neck Mouth:
cleft palate
pierre-robin sequence

Cardiovascular Heart:
mitral valve prolapse

Head And Neck Ears:
sensorineural hearing loss
occasional conductive hearing loss

Growth Other:
marfanoid habitus

Skeletal Spine:
scoliosis
kyphosis
platyspondyly with anterior wedging

Head And Neck Eyes:
blindness
myopia
glaucoma
retinal detachment
occasional cataracts
more
Skeletal Limbs:
arachnodactyly
arthropathy
flat, irregular femoral epiphyses

Head And Neck Face:
flat midface

Growth Height:
normal height

Skeletal:
mild spondyloepiphyseal dysplasia


Clinical features from OMIM:

108300

Human phenotypes related to Stickler Syndrome, Type I:

55 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 55 31 frequent (33%) Frequent (79-30%) HP:0002829
2 osteoarthritis 55 31 frequent (33%) Frequent (79-30%) HP:0002758
3 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
4 cataract 55 31 occasional (7.5%) Very frequent (99-80%) HP:0000518
5 skeletal dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002652
6 short nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0003196
7 sensorineural hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000407
8 cleft palate 55 31 frequent (33%) Frequent (79-30%) HP:0000175
9 long philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000343
10 platyspondyly 55 31 frequent (33%) Frequent (79-30%) HP:0000926
11 joint hyperflexibility 55 31 frequent (33%) Frequent (79-30%) HP:0005692
12 myopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000545
13 hypoplasia of the maxilla 55 31 hallmark (90%) Very frequent (99-80%) HP:0000327
14 retinal detachment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000541
15 visual loss 55 31 occasional (7.5%) Occasional (29-5%) HP:0000572
16 mitral valve prolapse 55 31 frequent (33%) Frequent (79-30%) HP:0001634
17 proptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000520
18 abnormality of vertebral epiphysis morphology 55 31 frequent (33%) Frequent (79-30%) HP:0100734
19 malar flattening 31 HP:0000272
20 pectus excavatum 31 HP:0000767
21 abnormality of epiphysis morphology 55 Frequent (79-30%)
22 scoliosis 31 HP:0002650
23 kyphosis 31 HP:0002808
24 depressed nasal bridge 31 HP:0005280
25 beaking of vertebral bodies 31 HP:0004568
26 anteverted nares 31 HP:0000463
27 blindness 31 HP:0000618
28 glaucoma 31 HP:0000501
29 arachnodactyly 31 HP:0001166
30 disproportionate tall stature 31 HP:0001519
31 conductive hearing impairment 31 occasional (7.5%) HP:0000405
32 midface retrusion 31 HP:0011800
33 abnormality of the vitreous humor 55 Very frequent (99-80%)
34 pierre-robin sequence 31 HP:0000201
35 arthropathy 31 HP:0003040
36 spondyloepiphyseal dysplasia 31 HP:0002655
37 irregular femoral epiphysis 31 HP:0006361
38 abnormal vitreous humor morphology 31 hallmark (90%) HP:0004327

Drugs & Therapeutics for Stickler Syndrome, Type I

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety, Efficacy, and Tolerability Study of PF-06480605 in Subjects With Moderate to Severe Ulcerative Colitis. Recruiting NCT02840721 Phase 2 PF-06480605
2 Studies of Heritable Disorders of Connective Tissue Completed NCT00270686
3 Study of Heritable Connective Tissue Disorders Completed NCT00001641
4 Study of Skeletal Disorders and Short Stature Completed NCT00001754
5 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Stickler Syndrome, Type I

Genetic Tests for Stickler Syndrome, Type I

Genetic tests related to Stickler Syndrome, Type I:

# Genetic test Affiliating Genes
1 Stickler Syndrome Type 1 28 COL2A1

Anatomical Context for Stickler Syndrome, Type I

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

38
Eye, Bone, Tongue

Publications for Stickler Syndrome, Type I

Articles related to Stickler Syndrome, Type I:

# Title Authors Year
1
Radiographic and tomographic analysis in patients with stickler syndrome type I. ( 23935403 )
2013
2
Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I. ( 16021188 )
2006
3
Stickler syndrome type I and Stapes ankylosis. ( 15533574 )
2004

Variations for Stickler Syndrome, Type I

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

71
# Symbol AA change Variation ID SNP ID
1 COL2A1 p.Arg904Cys VAR_017645 rs121912882
2 COL2A1 p.Arg565Cys VAR_023927 rs121912884
3 COL2A1 p.Gly240Asp VAR_063892
4 COL2A1 p.Gly270Arg VAR_063893
5 COL2A1 p.Gly282Asp VAR_063894
6 COL2A1 p.Gly453Ala VAR_063895 rs794727339
7 COL2A1 p.Gly501Arg VAR_063896
8 COL2A1 p.Gly1158Ala VAR_063898

ClinVar genetic disease variations for Stickler Syndrome, Type I:

6 (show all 42)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.2794C> T (p.Arg932Ter) single nucleotide variant Pathogenic rs121912866 GRCh37 Chromosome 12, 48372481: 48372481
2 COL2A1 COL2A1, 1-BP DEL, EX40 deletion Pathogenic
3 COL2A1 NM_001844.4(COL2A1): c.625C> T (p.Arg209Ter) single nucleotide variant Pathogenic rs121912869 GRCh37 Chromosome 12, 48389687: 48389687
4 COL2A1 NM_001844.4(COL2A1): c.3138delT (p.Gly1047Alafs) deletion Pathogenic rs121912873 GRCh37 Chromosome 12, 48371410: 48371410
5 COL2A1 NM_001844.4(COL2A1): c.908G> A (p.Gly303Asp) single nucleotide variant Pathogenic rs121912877 GRCh37 Chromosome 12, 48387608: 48387608
6 COL2A1 COL2A1, 1-BP DEL, EX50 deletion Pathogenic
7 COL2A1 COL2A1, IVS17, A-G, -2 single nucleotide variant Pathogenic
8 COL2A1 NM_001844.4(COL2A1): c.1510G> T (p.Gly504Cys) single nucleotide variant Pathogenic rs121912880 GRCh37 Chromosome 12, 48380136: 48380136
9 COL2A1 COL2A1, IVS25DS, G-A, +1 single nucleotide variant Pathogenic
10 COL2A1 NM_001844.4(COL2A1): c.1693C> T (p.Arg565Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121912884 GRCh37 Chromosome 12, 48379358: 48379358
11 COL2A1 NM_001844.4(COL2A1): c.1999C> T (p.Leu667Phe) single nucleotide variant Pathogenic rs121912885 GRCh37 Chromosome 12, 48377218: 48377218
12 COL2A1 NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter) single nucleotide variant Pathogenic rs121912893 GRCh37 Chromosome 12, 48377504: 48377504
13 COL2A1 COL2A1, IVS10AS, A-G, -2 single nucleotide variant Pathogenic
14 COL2A1 NM_001844.4(COL2A1): c.1052delG (p.Gly351Alafs) deletion Pathogenic rs398123628 GRCh37 Chromosome 12, 48383560: 48383560
15 COL2A1 NM_001844.4(COL2A1): c.85+1G> C single nucleotide variant Pathogenic rs727503882 GRCh37 Chromosome 12, 48398019: 48398019
16 COL2A1 NM_001844.4(COL2A1): c.762+1G> A single nucleotide variant Pathogenic rs794727026 GRCh37 Chromosome 12, 48389037: 48389037
17 COL2A1 NM_001844.4(COL2A1): c.1056delC (p.Ala353Glnfs) deletion Pathogenic rs794727185 GRCh37 Chromosome 12, 48383556: 48383556
18 COL2A1 NM_001844.4(COL2A1): c.1115G> A (p.Gly372Glu) single nucleotide variant Likely pathogenic rs794727202 GRCh37 Chromosome 12, 48383018: 48383018
19 COL2A1 NM_001844.4(COL2A1): c.1214delG (p.Gly405Valfs) deletion Pathogenic rs794727225 GRCh37 Chromosome 12, 48381401: 48381401
20 COL2A1 NM_001844.4(COL2A1): c.258C> A (p.Cys86Ter) single nucleotide variant Pathogenic rs794727261 GRCh37 Chromosome 12, 48393736: 48393736
21 COL2A1 NM_001844.4(COL2A1): c.1358G> C (p.Gly453Ala) single nucleotide variant Pathogenic rs794727339 GRCh37 Chromosome 12, 48380868: 48380868
22 COL2A1 NM_001844.4(COL2A1): c.1510G> A (p.Gly504Ser) single nucleotide variant Pathogenic rs121912880 GRCh37 Chromosome 12, 48380136: 48380136
23 COL2A1 NM_001844.4(COL2A1): c.1420-2A> C single nucleotide variant Pathogenic rs794727377 GRCh37 Chromosome 12, 48380228: 48380228
24 COL2A1 NM_001844.4(COL2A1): c.1799G> T (p.Gly600Val) single nucleotide variant Likely pathogenic rs794727438 GRCh37 Chromosome 12, 48378812: 48378812
25 COL2A1 NM_001844.4(COL2A1): c.1861G> A (p.Gly621Arg) single nucleotide variant Likely pathogenic rs794727462 GRCh38 Chromosome 12, 47984572: 47984572
26 COL2A1 NM_001844.4(COL2A1): c.1924G> T (p.Gly642Ter) single nucleotide variant Pathogenic rs794727472 GRCh37 Chromosome 12, 48377887: 48377887
27 COL2A1 NM_001844.4(COL2A1): c.2015G> C (p.Gly672Ala) single nucleotide variant Pathogenic rs794727546 GRCh37 Chromosome 12, 48377202: 48377202
28 COL2A1 NM_001844.4(COL2A1): c.2428G> T (p.Gly810Cys) single nucleotide variant Likely pathogenic rs794727596 GRCh37 Chromosome 12, 48375161: 48375161
29 COL2A1 NM_001844.4(COL2A1): c.2530C> T (p.Gln844Ter) single nucleotide variant Pathogenic rs794727607 GRCh37 Chromosome 12, 48374432: 48374432
30 COL2A1 NM_001844.4(COL2A1): c.3106C> T (p.Arg1036Ter) single nucleotide variant Pathogenic rs748459670 GRCh37 Chromosome 12, 48371798: 48371798
31 COL2A1 NM_001844.4(COL2A1): c.3275G> A (p.Gly1092Asp) single nucleotide variant Likely pathogenic rs794727684 GRCh37 Chromosome 12, 48370937: 48370937
32 COL2A1 NM_001844.4(COL2A1): c.3791_3794delACCA (p.Asn1264Argfs) deletion Pathogenic rs794727748 GRCh37 Chromosome 12, 48369192: 48369195
33 COL2A1 NM_001844.4(COL2A1): c.4447_4450delCCGG (p.Pro1483Serfs) deletion Pathogenic rs794727761 GRCh37 Chromosome 12, 48367204: 48367207
34 COL2A1 NM_001844.4(COL2A1): c.3382G> C (p.Gly1128Arg) single nucleotide variant Pathogenic rs886042612 GRCh37 Chromosome 12, 48370648: 48370648
35 COL2A1 NM_001844.4(COL2A1): c.3574C> T (p.Arg1192Ter) single nucleotide variant Pathogenic rs886042651 GRCh37 Chromosome 12, 48369769: 48369769
36 COL2A1 NM_001844.4(COL2A1): c.3311G> A (p.Gly1104Glu) single nucleotide variant Likely pathogenic rs886043356 GRCh37 Chromosome 12, 48370901: 48370901
37 COL2A1 NM_001844.4(COL2A1): c.2353C> T (p.Arg785Ter) single nucleotide variant Pathogenic rs886043410 GRCh37 Chromosome 12, 48375892: 48375892
38 COL2A1 NM_001844.4(COL2A1): c.1071delT (p.Pro358Leufs) deletion Pathogenic rs886043797 GRCh37 Chromosome 12, 48383062: 48383062
39 COL2A1 NM_001844.4(COL2A1): c.714dupC (p.Met239Hisfs) duplication Pathogenic rs886043934 GRCh37 Chromosome 12, 48389086: 48389086
40 COL2A1 NM_001844.4(COL2A1): c.2382delT (p.Gly795Alafs) deletion Pathogenic rs886044151 GRCh37 Chromosome 12, 48375586: 48375586
41 COL2A1 NM_001844.4(COL2A1): c.297delA (p.Gln99Hisfs) deletion Pathogenic rs886044245 GRCh37 Chromosome 12, 48392210: 48392210
42 COL2A1 NM_001844.4(COL2A1): c.2465delG (p.Gly822Valfs) deletion Pathogenic rs886044292 GRCh37 Chromosome 12, 48374750: 48374750

Expression for Stickler Syndrome, Type I

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

Pathways for Stickler Syndrome, Type I

GO Terms for Stickler Syndrome, Type I

Sources for Stickler Syndrome, Type I

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70 UMLS via Orphanet
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