STL1
MCID: STC015
MIFTS: 38

Stickler Syndrome, Type I (STL1)

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

Aliases & Classifications for Stickler Syndrome, Type I

MalaCards integrated aliases for Stickler Syndrome, Type I:

Name: Stickler Syndrome, Type I 58 13 56 41
Stickler Syndrome Type 1 54 60 30 6
Stl1 58 54 76
Aom 58 54 76
Arthroophthalmopathy, Hereditary Progressive 58 54
Stickler Syndrome, Membranous Vitreous Type 58 54
Stickler Syndrome, Vitreous Type 1 58 54
Stickler Syndrome, Type 1 77 74
Arthroophthalmopathy, Hereditary Progressive; Aom 58
Arthro-Ophthalmopathy Hereditary Progressive 76
Stickler Syndrome Membranous Vitreous Type 76
Stickler Syndrome Vitreous Type 1 76
Stickler Syndrome Type I 76
Stickler Syndrome 1 76

Characteristics:

Orphanet epidemiological data:

60
stickler syndrome type 1
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
stickler syndrome, type i:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Stickler Syndrome, Type I

NIH Rare Diseases : 54 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 I, also known as stickler syndrome type 1, is related to stickler syndrome, type i, nonsyndromic ocular and otitis media. An important gene associated with Stickler Syndrome, Type I is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include eye, bone and testes, and related phenotypes are cataract and skeletal dysplasia

OMIM : 58 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 : 76 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 : 77 Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of very rare genetic... more...

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

Human phenotypes related to Stickler Syndrome, Type I:

60 33 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 60 33 occasional (7.5%) Very frequent (99-80%) HP:0000518
2 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002652
3 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
4 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
5 myopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000545
6 hypoplasia of the maxilla 60 33 hallmark (90%) Very frequent (99-80%) HP:0000327
7 retinal detachment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000541
8 abnormal vitreous humor morphology 33 hallmark (90%) HP:0004327
9 osteoarthritis 60 33 frequent (33%) Frequent (79-30%) HP:0002758
10 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407
11 arthralgia 60 33 frequent (33%) Frequent (79-30%) HP:0002829
12 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
13 platyspondyly 60 33 frequent (33%) Frequent (79-30%) HP:0000926
14 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
15 mitral valve prolapse 60 33 frequent (33%) Frequent (79-30%) HP:0001634
16 proptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000520
17 abnormality of vertebral epiphysis morphology 60 33 frequent (33%) Frequent (79-30%) HP:0100734
18 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
19 visual loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0000572
20 conductive hearing impairment 33 occasional (7.5%) HP:0000405
21 malar flattening 33 HP:0000272
22 pectus excavatum 33 HP:0000767
23 abnormality of epiphysis morphology 60 Frequent (79-30%)
24 scoliosis 33 HP:0002650
25 kyphosis 33 HP:0002808
26 depressed nasal bridge 33 HP:0005280
27 beaking of vertebral bodies 33 HP:0004568
28 anteverted nares 33 HP:0000463
29 blindness 33 HP:0000618
30 glaucoma 33 HP:0000501
31 arachnodactyly 33 HP:0001166
32 disproportionate tall stature 33 HP:0001519
33 midface retrusion 33 HP:0011800
34 abnormality of the vitreous humor 60 Very frequent (99-80%)
35 pierre-robin sequence 33 HP:0000201
36 arthropathy 33 HP:0003040
37 spondyloepiphyseal dysplasia 33 HP:0002655
38 irregular femoral epiphysis 33 HP:0006361

Symptoms via clinical synopsis from OMIM:

58
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Head And Neck Nose:
depressed nasal bridge
anteverted nares

Head And Neck Mouth:
cleft palate
pierre-robin sequence

Skeletal Limbs:
arachnodactyly
arthropathy
flat, irregular femoral epiphyses

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
Cardiovascular Heart:
mitral valve prolapse

Head And Neck Face:
flat midface

Growth Height:
normal height

Skeletal:
mild spondyloepiphyseal dysplasia

Clinical features from OMIM:

108300

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. Completed 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 30 COL2A1

Anatomical Context for Stickler Syndrome, Type I

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

42
Eye, Bone, Testes, 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:

76
# 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 top 50) (show all 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.85+1G> C single nucleotide variant Pathogenic rs727503882 GRCh37 Chromosome 12, 48398019: 48398019
2 COL2A1 NM_001844.4(COL2A1): c.85+1G> C single nucleotide variant Pathogenic rs727503882 GRCh38 Chromosome 12, 48004236: 48004236
3 COL2A1 NM_001844.4(COL2A1): c.1115G> A (p.Gly372Glu) single nucleotide variant Likely pathogenic rs794727202 GRCh37 Chromosome 12, 48383018: 48383018
4 COL2A1 NM_001844.4(COL2A1): c.1115G> A (p.Gly372Glu) single nucleotide variant Likely pathogenic rs794727202 GRCh38 Chromosome 12, 47989235: 47989235
5 COL2A1 NM_001844.4(COL2A1): c.1358G> C (p.Gly453Ala) single nucleotide variant Pathogenic rs794727339 GRCh37 Chromosome 12, 48380868: 48380868
6 COL2A1 NM_001844.4(COL2A1): c.1358G> C (p.Gly453Ala) single nucleotide variant Pathogenic rs794727339 GRCh38 Chromosome 12, 47987085: 47987085
7 COL2A1 NM_001844.4(COL2A1): c.1510G> A (p.Gly504Ser) single nucleotide variant Pathogenic rs121912880 GRCh37 Chromosome 12, 48380136: 48380136
8 COL2A1 NM_001844.4(COL2A1): c.1510G> A (p.Gly504Ser) single nucleotide variant Pathogenic rs121912880 GRCh38 Chromosome 12, 47986353: 47986353
9 COL2A1 NM_001844.4(COL2A1): c.1799G> T (p.Gly600Val) single nucleotide variant Likely pathogenic rs794727438 GRCh37 Chromosome 12, 48378812: 48378812
10 COL2A1 NM_001844.4(COL2A1): c.1799G> T (p.Gly600Val) single nucleotide variant Likely pathogenic rs794727438 GRCh38 Chromosome 12, 47985029: 47985029
11 COL2A1 NM_001844.4(COL2A1): c.1924G> T (p.Gly642Ter) single nucleotide variant Pathogenic rs794727472 GRCh37 Chromosome 12, 48377887: 48377887
12 COL2A1 NM_001844.4(COL2A1): c.1924G> T (p.Gly642Ter) single nucleotide variant Pathogenic rs794727472 GRCh38 Chromosome 12, 47984104: 47984104
13 COL2A1 NM_001844.4(COL2A1): c.2015G> C (p.Gly672Ala) single nucleotide variant Pathogenic rs794727546 GRCh37 Chromosome 12, 48377202: 48377202
14 COL2A1 NM_001844.4(COL2A1): c.2015G> C (p.Gly672Ala) single nucleotide variant Pathogenic rs794727546 GRCh38 Chromosome 12, 47983419: 47983419
15 COL2A1 NM_001844.4(COL2A1): c.3275G> A (p.Gly1092Asp) single nucleotide variant Likely pathogenic rs794727684 GRCh37 Chromosome 12, 48370937: 48370937
16 COL2A1 NM_001844.4(COL2A1): c.3275G> A (p.Gly1092Asp) single nucleotide variant Likely pathogenic rs794727684 GRCh38 Chromosome 12, 47977154: 47977154
17 COL2A1 NM_001844.4(COL2A1): c.4447_4450delCCGG (p.Pro1483Serfs) deletion Pathogenic rs794727761 GRCh37 Chromosome 12, 48367204: 48367207
18 COL2A1 NM_001844.4(COL2A1): c.4447_4450delCCGG (p.Pro1483Serfs) deletion Pathogenic rs794727761 GRCh38 Chromosome 12, 47973421: 47973424
19 COL2A1 NM_001844.4(COL2A1): c.2794C> T (p.Arg932Ter) single nucleotide variant Pathogenic rs121912866 GRCh37 Chromosome 12, 48372481: 48372481
20 COL2A1 NM_001844.4(COL2A1): c.2794C> T (p.Arg932Ter) single nucleotide variant Pathogenic rs121912866 GRCh38 Chromosome 12, 47978698: 47978698
21 COL2A1 COL2A1, 1-BP DEL, EX40 deletion Pathogenic
22 COL2A1 NM_001844.4(COL2A1): c.625C> T (p.Arg209Ter) single nucleotide variant Pathogenic rs121912869 GRCh37 Chromosome 12, 48389687: 48389687
23 COL2A1 NM_001844.4(COL2A1): c.625C> T (p.Arg209Ter) single nucleotide variant Pathogenic rs121912869 GRCh38 Chromosome 12, 47995904: 47995904
24 COL2A1 NM_001844.4(COL2A1): c.3138delT (p.Gly1047Alafs) deletion Pathogenic rs121912873 GRCh37 Chromosome 12, 48371410: 48371410
25 COL2A1 NM_001844.4(COL2A1): c.3138delT (p.Gly1047Alafs) deletion Pathogenic rs121912873 GRCh38 Chromosome 12, 47977627: 47977627
26 COL2A1 NM_001844.4(COL2A1): c.908G> A (p.Gly303Asp) single nucleotide variant Pathogenic rs121912877 GRCh37 Chromosome 12, 48387608: 48387608
27 COL2A1 NM_001844.4(COL2A1): c.908G> A (p.Gly303Asp) single nucleotide variant Pathogenic rs121912877 GRCh38 Chromosome 12, 47993825: 47993825
28 COL2A1 COL2A1, 1-BP DEL, EX50 deletion Pathogenic
29 COL2A1 COL2A1, IVS17, A-G, -2 single nucleotide variant Pathogenic
30 COL2A1 COL2A1, IVS25DS, G-A, +1 single nucleotide variant Pathogenic
31 COL2A1 NM_001844.4(COL2A1): c.1693C> T (p.Arg565Cys) single nucleotide variant Likely pathogenic rs121912884 GRCh37 Chromosome 12, 48379358: 48379358
32 COL2A1 NM_001844.4(COL2A1): c.1693C> T (p.Arg565Cys) single nucleotide variant Likely pathogenic rs121912884 GRCh38 Chromosome 12, 47985575: 47985575
33 COL2A1 NM_001844.4(COL2A1): c.1999C> T (p.Leu667Phe) single nucleotide variant Pathogenic rs121912885 GRCh37 Chromosome 12, 48377218: 48377218
34 COL2A1 NM_001844.4(COL2A1): c.1999C> T (p.Leu667Phe) single nucleotide variant Pathogenic rs121912885 GRCh38 Chromosome 12, 47983435: 47983435
35 COL2A1 NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter) single nucleotide variant Pathogenic rs121912893 GRCh37 Chromosome 12, 48377504: 48377504
36 COL2A1 NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter) single nucleotide variant Pathogenic rs121912893 GRCh38 Chromosome 12, 47983721: 47983721
37 COL2A1 COL2A1, IVS10AS, A-G, -2 single nucleotide variant Pathogenic
38 COL2A1 NM_001844.4(COL2A1): c.1052delG (p.Gly351Alafs) deletion Pathogenic rs398123628 GRCh37 Chromosome 12, 48383560: 48383560
39 COL2A1 NM_001844.4(COL2A1): c.1052delG (p.Gly351Alafs) deletion Pathogenic rs398123628 GRCh38 Chromosome 12, 47989777: 47989777
40 COL2A1 NM_001844.4(COL2A1): c.714dupC (p.Met239Hisfs) duplication Pathogenic rs886043934 GRCh37 Chromosome 12, 48389086: 48389086
41 COL2A1 NM_001844.4(COL2A1): c.714dupC (p.Met239Hisfs) duplication Pathogenic rs886043934 GRCh38 Chromosome 12, 47995303: 47995303
42 COL2A1 NM_001844.4(COL2A1): c.1452C> T (p.Pro484=) single nucleotide variant Likely benign rs755093756 GRCh37 Chromosome 12, 48380194: 48380194
43 COL2A1 NM_001844.4(COL2A1): c.1452C> T (p.Pro484=) single nucleotide variant Likely benign rs755093756 GRCh38 Chromosome 12, 47986411: 47986411
44 COL2A1 NM_001844.4(COL2A1): c.609+4delA deletion Likely pathogenic rs1555168965 GRCh38 Chromosome 12, 47996544: 47996544
45 COL2A1 NM_001844.4(COL2A1): c.609+4delA deletion Likely pathogenic rs1555168965 GRCh37 Chromosome 12, 48390327: 48390327
46 COL2A1 NM_001844.4(COL2A1): c.3731delC (p.Ala1244Glufs) deletion Pathogenic rs1555164735 GRCh38 Chromosome 12, 47975472: 47975472
47 COL2A1 NM_001844.4(COL2A1): c.3731delC (p.Ala1244Glufs) deletion Pathogenic rs1555164735 GRCh37 Chromosome 12, 48369255: 48369255
48 COL2A1 NM_001844.4(COL2A1): c.3635G> C (p.Gly1212Ala) single nucleotide variant Uncertain significance rs1555164786 GRCh37 Chromosome 12, 48369351: 48369351
49 COL2A1 NM_001844.4(COL2A1): c.3635G> C (p.Gly1212Ala) single nucleotide variant Uncertain significance rs1555164786 GRCh38 Chromosome 12, 47975568: 47975568
50 COL2A1 NM_001844.4(COL2A1): c.3166-1G> A single nucleotide variant Pathogenic rs1555165204 GRCh38 Chromosome 12, 47977428: 47977428

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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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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