STL1
MCID: STC015
MIFTS: 36

Stickler Syndrome, Type I (STL1) malady

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

Aliases & Classifications for Stickler Syndrome, Type I

Aliases & Descriptions for Stickler Syndrome, Type I:

Name: Stickler Syndrome, Type I 54 13 52
Stickler Syndrome Type 1 50 56
Stickler Syndrome 1 66 29
Stl1 50 66
Aom 50 66
Arthroophthalmopathy, Hereditary Progressive 50
Arthro-Ophthalmopathy Hereditary Progressive 66
Stickler Syndrome, Membranous Vitreous Type 50
Stickler Syndrome Membranous Vitreous Type 66
Stickler Syndrome, Vitreous Type 1 50
Stickler Syndrome Vitreous Type 1 66
Stickler Syndrome, Type 1 69
Stickler Syndrome Type I 66

Characteristics:

Orphanet epidemiological data:

56
stickler syndrome type 1
Inheritance: Autosomal dominant;

HPO:

32
stickler syndrome, type i:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 108300
Orphanet 56 ORPHA90653
ICD10 via Orphanet 34 Q87.5
MESH via Orphanet 43 C537492
MeSH 42 D003240

Summaries for Stickler Syndrome, Type I

OMIM : 54 Stickler syndrome is a clinically variable and genetically heterogeneous disorder characterized by ocular, auditory,... (108300) more...

MalaCards based summary : Stickler Syndrome, Type I, also known as stickler syndrome type 1, is related to otitis media and stickler sydrome, type i, nonsyndromic ocular, 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.

NIH Rare Diseases : 50 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

UniProtKB/Swiss-Prot : 66 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.

Related Diseases for Stickler Syndrome, Type I

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 by clinical synopsis from OMIM:

108300

Clinical features from OMIM:

108300

Human phenotypes related to Stickler Syndrome, Type I:

56 32 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 56 32 Frequent (79-30%) HP:0002829
2 osteoarthritis 56 32 Frequent (79-30%) HP:0002758
3 intellectual disability 56 32 Occasional (29-5%) HP:0001249
4 cataract 56 32 Very frequent (99-80%) HP:0000518
5 skeletal dysplasia 56 32 Very frequent (99-80%) HP:0002652
6 short nose 56 32 Very frequent (99-80%) HP:0003196
7 sensorineural hearing impairment 56 32 Frequent (79-30%) HP:0000407
8 cleft palate 56 32 Frequent (79-30%) HP:0000175
9 long philtrum 56 32 Very frequent (99-80%) HP:0000343
10 platyspondyly 56 32 Frequent (79-30%) HP:0000926
11 joint hyperflexibility 56 32 Frequent (79-30%) HP:0005692
12 myopia 56 32 Very frequent (99-80%) HP:0000545
13 hypoplasia of the maxilla 56 32 Very frequent (99-80%) HP:0000327
14 retinal detachment 56 32 Very frequent (99-80%) HP:0000541
15 visual loss 56 32 Occasional (29-5%) HP:0000572
16 mitral valve prolapse 56 32 Frequent (79-30%) HP:0001634
17 proptosis 56 32 Frequent (79-30%) HP:0000520
18 abnormality of the vitreous humor 56 32 Very frequent (99-80%) HP:0004327
19 abnormality of vertebral epiphysis morphology 56 32 Frequent (79-30%) HP:0100734
20 malar flattening 32 HP:0000272
21 pectus excavatum 32 HP:0000767
22 abnormality of epiphysis morphology 56 Frequent (79-30%)
23 scoliosis 32 HP:0002650
24 kyphosis 32 HP:0002808
25 depressed nasal bridge 32 HP:0005280
26 beaking of vertebral bodies 32 HP:0004568
27 anteverted nares 32 HP:0000463
28 blindness 32 HP:0000618
29 glaucoma 32 HP:0000501
30 arachnodactyly 32 HP:0001166
31 disproportionate tall stature 32 HP:0001519
32 conductive hearing impairment 32 HP:0000405
33 midface retrusion 32 HP:0011800
34 pierre-robin sequence 32 HP:0000201
35 arthropathy 32 HP:0003040
36 spondyloepiphyseal dysplasia 32 HP:0002655
37 irregular femoral epiphysis 32 HP:0006361

Drugs & Therapeutics for Stickler Syndrome, Type I

Interventional clinical trials:


id Name Status NCT ID Phase
1 Safety, Efficacy, and Tolerability Study of PF-06480605 in Subjects With Moderate to Severe Ulcerative Colitis. Recruiting NCT02840721 Phase 2
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:

id Genetic test Affiliating Genes
1 Stickler Syndrome Type 1 29

Anatomical Context for Stickler Syndrome, Type I

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

39
Eye, Bone, Tongue

Publications for Stickler Syndrome, Type I

Articles related to Stickler Syndrome, Type I:

id 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:

66
id 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 41)
id 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 NM_001844.4(COL2A1): c.1052delG (p.Gly351Alafs) deletion Pathogenic rs398123628 GRCh37 Chromosome 12, 48383560: 48383560
14 COL2A1 NM_001844.4(COL2A1): c.85+1G> C single nucleotide variant Pathogenic rs727503882 GRCh37 Chromosome 12, 48398019: 48398019
15 COL2A1 NM_001844.4(COL2A1): c.762+1G> A single nucleotide variant Pathogenic rs794727026 GRCh37 Chromosome 12, 48389037: 48389037
16 COL2A1 NM_001844.4(COL2A1): c.1056delC (p.Ala353Glnfs) deletion Pathogenic rs794727185 GRCh37 Chromosome 12, 48383556: 48383556
17 COL2A1 NM_001844.4(COL2A1): c.1115G> A (p.Gly372Glu) single nucleotide variant Likely pathogenic rs794727202 GRCh37 Chromosome 12, 48383018: 48383018
18 COL2A1 NM_001844.4(COL2A1): c.1214delG (p.Gly405Valfs) deletion Pathogenic rs794727225 GRCh37 Chromosome 12, 48381401: 48381401
19 COL2A1 NM_001844.4(COL2A1): c.258C> A (p.Cys86Ter) single nucleotide variant Pathogenic rs794727261 GRCh37 Chromosome 12, 48393736: 48393736
20 COL2A1 NM_001844.4(COL2A1): c.1358G> C (p.Gly453Ala) single nucleotide variant Pathogenic rs794727339 GRCh37 Chromosome 12, 48380868: 48380868
21 COL2A1 NM_001844.4(COL2A1): c.1510G> A (p.Gly504Ser) single nucleotide variant Pathogenic rs121912880 GRCh37 Chromosome 12, 48380136: 48380136
22 COL2A1 NM_001844.4(COL2A1): c.1420-2A> C single nucleotide variant Pathogenic rs794727377 GRCh37 Chromosome 12, 48380228: 48380228
23 COL2A1 NM_001844.4(COL2A1): c.1799G> T (p.Gly600Val) single nucleotide variant Likely pathogenic rs794727438 GRCh37 Chromosome 12, 48378812: 48378812
24 COL2A1 NM_001844.4(COL2A1): c.1861G> A (p.Gly621Arg) single nucleotide variant Likely pathogenic rs794727462 GRCh37 Chromosome 12, 48378355: 48378355
25 COL2A1 NM_001844.4(COL2A1): c.1924G> T (p.Gly642Ter) single nucleotide variant Pathogenic rs794727472 GRCh37 Chromosome 12, 48377887: 48377887
26 COL2A1 NM_001844.4(COL2A1): c.2015G> C (p.Gly672Ala) single nucleotide variant Pathogenic rs794727546 GRCh37 Chromosome 12, 48377202: 48377202
27 COL2A1 NM_001844.4(COL2A1): c.2428G> T (p.Gly810Cys) single nucleotide variant Likely pathogenic rs794727596 GRCh37 Chromosome 12, 48375161: 48375161
28 COL2A1 NM_001844.4(COL2A1): c.2530C> T (p.Gln844Ter) single nucleotide variant Pathogenic rs794727607 GRCh37 Chromosome 12, 48374432: 48374432
29 COL2A1 NM_001844.4(COL2A1): c.3106C> T (p.Arg1036Ter) single nucleotide variant Pathogenic rs748459670 GRCh37 Chromosome 12, 48371798: 48371798
30 COL2A1 NM_001844.4(COL2A1): c.3275G> A (p.Gly1092Asp) single nucleotide variant Likely pathogenic rs794727684 GRCh37 Chromosome 12, 48370937: 48370937
31 COL2A1 NM_001844.4(COL2A1): c.3791_3794delACCA (p.Asn1264Argfs) deletion Pathogenic rs794727748 GRCh37 Chromosome 12, 48369192: 48369195
32 COL2A1 NM_001844.4(COL2A1): c.4447_4450delCCGG (p.Pro1483Serfs) deletion Pathogenic rs794727761 GRCh37 Chromosome 12, 48367204: 48367207
33 COL2A1 NM_001844.4(COL2A1): c.3382G> C (p.Gly1128Arg) single nucleotide variant Pathogenic rs886042612 GRCh37 Chromosome 12, 48370648: 48370648
34 COL2A1 NM_001844.4(COL2A1): c.3574C> T (p.Arg1192Ter) single nucleotide variant Pathogenic rs886042651 GRCh37 Chromosome 12, 48369769: 48369769
35 COL2A1 NM_001844.4(COL2A1): c.3311G> A (p.Gly1104Glu) single nucleotide variant Likely pathogenic rs886043356 GRCh37 Chromosome 12, 48370901: 48370901
36 COL2A1 NM_001844.4(COL2A1): c.2353C> T (p.Arg785Ter) single nucleotide variant Pathogenic rs886043410 GRCh37 Chromosome 12, 48375892: 48375892
37 COL2A1 NM_001844.4(COL2A1): c.1071delT (p.Pro358Leufs) deletion Pathogenic rs886043797 GRCh37 Chromosome 12, 48383062: 48383062
38 COL2A1 NM_001844.4(COL2A1): c.714dupC (p.Met239Hisfs) duplication Pathogenic rs886043934 GRCh37 Chromosome 12, 48389086: 48389086
39 COL2A1 NM_001844.4(COL2A1): c.2382delT (p.Gly795Alafs) deletion Pathogenic rs886044151 GRCh37 Chromosome 12, 48375586: 48375586
40 COL2A1 NM_001844.4(COL2A1): c.297delA (p.Gln99Hisfs) deletion Pathogenic rs886044245 GRCh37 Chromosome 12, 48392210: 48392210
41 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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65 SNOMED-CT via Orphanet
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68 Tocris
69 UMLS
70 UMLS via Orphanet
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