STL1
MCID: STC015
MIFTS: 34

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 57 13 55 40
Stickler Syndrome Type 1 53 59 29 6
Stl1 57 53 75
Aom 57 53 75
Arthroophthalmopathy, Hereditary Progressive 57 53
Stickler Syndrome, Membranous Vitreous Type 57 53
Stickler Syndrome, Vitreous Type 1 57 53
Stickler Syndrome, Type 1 76 73
Arthroophthalmopathy, Hereditary Progressive; Aom 57
Arthro-Ophthalmopathy Hereditary Progressive 75
Stickler Syndrome Membranous Vitreous Type 75
Stickler Syndrome Vitreous Type 1 75
Stickler Syndrome Type I 75
Stickler Syndrome 1 75

Characteristics:

Orphanet epidemiological data:

59
stickler syndrome type 1
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
stickler syndrome, type i:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Stickler Syndrome, Type I

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 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 osteoarthritis and intellectual disability

OMIM : 57 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 : 75 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 : 76 Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of very rare genetic... 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:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 stickler syndrome, type i, nonsyndromic ocular 12.4
2 otitis media 11.6
3 serous glue ear 11.2
4 stickler syndrome, type ii 11.2
5 stickler syndrome, type 3 11.2
6 dengue shock syndrome 10.7
7 colitis 10.5
8 colorectal cancer 10.3
9 stickler syndrome 10.3
10 retinal detachment 10.0
11 schizophrenia 10.0
12 ulcerative colitis 10.0
13 mastoiditis 10.0
14 bipolar i disorder 10.0
15 haemophilus influenzae 10.0
16 ankylosis 10.0

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:

57
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

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:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
2 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
3 cataract 59 32 occasional (7.5%) Very frequent (99-80%) HP:0000518
4 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
5 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
6 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
7 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
8 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
9 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
10 platyspondyly 59 32 frequent (33%) Frequent (79-30%) HP:0000926
11 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
12 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
13 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
14 retinal detachment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000541
15 visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000572
16 mitral valve prolapse 59 32 frequent (33%) Frequent (79-30%) HP:0001634
17 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
18 abnormality of vertebral epiphysis morphology 59 32 frequent (33%) Frequent (79-30%) HP:0100734
19 malar flattening 32 HP:0000272
20 pectus excavatum 32 HP:0000767
21 abnormality of epiphysis morphology 59 Frequent (79-30%)
22 scoliosis 32 HP:0002650
23 kyphosis 32 HP:0002808
24 depressed nasal bridge 32 HP:0005280
25 beaking of vertebral bodies 32 HP:0004568
26 anteverted nares 32 HP:0000463
27 blindness 32 HP:0000618
28 glaucoma 32 HP:0000501
29 arachnodactyly 32 HP:0001166
30 disproportionate tall stature 32 HP:0001519
31 conductive hearing impairment 32 occasional (7.5%) HP:0000405
32 midface retrusion 32 HP:0011800
33 abnormality of the vitreous humor 59 Very frequent (99-80%)
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
38 abnormal vitreous humor morphology 32 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. 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 29 COL2A1

Anatomical Context for Stickler Syndrome, Type I

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

41
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
4
Retinal detachment in identical twins with Stickler syndrome type 1. ( 8976725 )
1996

Variations for Stickler Syndrome, Type I

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

75
# 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 107)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.1115G> A (p.Gly372Glu) single nucleotide variant Likely pathogenic rs794727202 GRCh37 Chromosome 12, 48383018: 48383018
2 COL2A1 NM_001844.4(COL2A1): c.1115G> A (p.Gly372Glu) single nucleotide variant Likely pathogenic rs794727202 GRCh38 Chromosome 12, 47989235: 47989235
3 COL2A1 NM_001844.4(COL2A1): c.258C> A (p.Cys86Ter) single nucleotide variant Pathogenic rs794727261 GRCh37 Chromosome 12, 48393736: 48393736
4 COL2A1 NM_001844.4(COL2A1): c.258C> A (p.Cys86Ter) single nucleotide variant Pathogenic rs794727261 GRCh38 Chromosome 12, 47999953: 47999953
5 COL2A1 NM_001844.4(COL2A1): c.1799G> T (p.Gly600Val) single nucleotide variant Likely pathogenic rs794727438 GRCh37 Chromosome 12, 48378812: 48378812
6 COL2A1 NM_001844.4(COL2A1): c.1799G> T (p.Gly600Val) single nucleotide variant Likely pathogenic rs794727438 GRCh38 Chromosome 12, 47985029: 47985029
7 COL2A1 NM_001844.4(COL2A1): c.3791_3794delACCA (p.Asn1264Argfs) deletion Pathogenic rs794727748 GRCh37 Chromosome 12, 48369192: 48369195
8 COL2A1 NM_001844.4(COL2A1): c.3791_3794delACCA (p.Asn1264Argfs) deletion Pathogenic rs794727748 GRCh38 Chromosome 12, 47975409: 47975412
9 COL2A1 NM_001844.4(COL2A1): c.3382G> C (p.Gly1128Arg) single nucleotide variant Pathogenic rs886042612 GRCh37 Chromosome 12, 48370648: 48370648
10 COL2A1 NM_001844.4(COL2A1): c.3382G> C (p.Gly1128Arg) single nucleotide variant Pathogenic rs886042612 GRCh38 Chromosome 12, 47976865: 47976865
11 COL2A1 NM_001844.4(COL2A1): c.2353C> T (p.Arg785Ter) single nucleotide variant Pathogenic rs886043410 GRCh37 Chromosome 12, 48375892: 48375892
12 COL2A1 NM_001844.4(COL2A1): c.2353C> T (p.Arg785Ter) single nucleotide variant Pathogenic rs886043410 GRCh38 Chromosome 12, 47982109: 47982109
13 COL2A1 NM_001844.4(COL2A1): c.2382delT (p.Gly795Alafs) deletion Pathogenic rs886044151 GRCh37 Chromosome 12, 48375586: 48375586
14 COL2A1 NM_001844.4(COL2A1): c.2382delT (p.Gly795Alafs) deletion Pathogenic rs886044151 GRCh38 Chromosome 12, 47981803: 47981803
15 COL2A1 NM_001844.4(COL2A1): c.297delA (p.Gln99Hisfs) deletion Pathogenic rs886044245 GRCh37 Chromosome 12, 48392210: 48392210
16 COL2A1 NM_001844.4(COL2A1): c.297delA (p.Gln99Hisfs) deletion Pathogenic rs886044245 GRCh38 Chromosome 12, 47998427: 47998427
17 COL2A1 NM_001844.4(COL2A1): c.2465delG (p.Gly822Valfs) deletion Pathogenic rs886044292 GRCh37 Chromosome 12, 48374750: 48374750
18 COL2A1 NM_001844.4(COL2A1): c.2465delG (p.Gly822Valfs) deletion Pathogenic rs886044292 GRCh38 Chromosome 12, 47980967: 47980967
19 COL2A1 NM_001844.4(COL2A1): c.2355+5G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 12, 47982102: 47982102
20 COL2A1 NM_001844.4(COL2A1): c.2355+5G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 48375885: 48375885
21 COL2A1 NM_001844.4(COL2A1): c.3149G> A (p.Gly1050Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 48371399: 48371399
22 COL2A1 NM_001844.4(COL2A1): c.3149G> A (p.Gly1050Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 12, 47977616: 47977616
23 COL2A1 NM_001844.4(COL2A1): c.1452C> T (p.Pro484=) single nucleotide variant Likely benign rs755093756 GRCh38 Chromosome 12, 47986411: 47986411
24 COL2A1 NM_001844.4(COL2A1): c.1452C> T (p.Pro484=) single nucleotide variant Likely benign rs755093756 GRCh37 Chromosome 12, 48380194: 48380194
25 COL2A1 NM_001844.4(COL2A1): c.714dupC (p.Met239Hisfs) duplication Pathogenic rs886043934 GRCh38 Chromosome 12, 47995303: 47995303
26 COL2A1 NM_001844.4(COL2A1): c.714dupC (p.Met239Hisfs) duplication Pathogenic rs886043934 GRCh37 Chromosome 12, 48389086: 48389086
27 COL2A1 NM_001844.4(COL2A1): c.1071delT (p.Pro358Leufs) deletion Pathogenic rs886043797 GRCh38 Chromosome 12, 47989279: 47989279
28 COL2A1 NM_001844.4(COL2A1): c.1071delT (p.Pro358Leufs) deletion Pathogenic rs886043797 GRCh37 Chromosome 12, 48383062: 48383062
29 COL2A1 NM_001844.4(COL2A1): c.3311G> A (p.Gly1104Glu) single nucleotide variant Likely pathogenic rs886043356 GRCh38 Chromosome 12, 47977118: 47977118
30 COL2A1 NM_001844.4(COL2A1): c.3311G> A (p.Gly1104Glu) single nucleotide variant Likely pathogenic rs886043356 GRCh37 Chromosome 12, 48370901: 48370901
31 COL2A1 NM_001844.4(COL2A1): c.3574C> T (p.Arg1192Ter) single nucleotide variant Pathogenic rs886042651 GRCh37 Chromosome 12, 48369769: 48369769
32 COL2A1 NM_001844.4(COL2A1): c.3574C> T (p.Arg1192Ter) single nucleotide variant Pathogenic rs886042651 GRCh38 Chromosome 12, 47975986: 47975986
33 COL2A1 NM_001844.4(COL2A1): c.4447_4450delCCGG (p.Pro1483Serfs) deletion Pathogenic rs794727761 GRCh38 Chromosome 12, 47973421: 47973424
34 COL2A1 NM_001844.4(COL2A1): c.4447_4450delCCGG (p.Pro1483Serfs) deletion Pathogenic rs794727761 GRCh37 Chromosome 12, 48367204: 48367207
35 COL2A1 NM_001844.4(COL2A1): c.3275G> A (p.Gly1092Asp) single nucleotide variant Likely pathogenic rs794727684 GRCh38 Chromosome 12, 47977154: 47977154
36 COL2A1 NM_001844.4(COL2A1): c.3275G> A (p.Gly1092Asp) single nucleotide variant Likely pathogenic rs794727684 GRCh37 Chromosome 12, 48370937: 48370937
37 COL2A1 NM_001844.4(COL2A1): c.3106C> T (p.Arg1036Ter) single nucleotide variant Pathogenic rs748459670 GRCh38 Chromosome 12, 47978015: 47978015
38 COL2A1 NM_001844.4(COL2A1): c.3106C> T (p.Arg1036Ter) single nucleotide variant Pathogenic rs748459670 GRCh37 Chromosome 12, 48371798: 48371798
39 COL2A1 NM_001844.4(COL2A1): c.2530C> T (p.Gln844Ter) single nucleotide variant Pathogenic rs794727607 GRCh38 Chromosome 12, 47980649: 47980649
40 COL2A1 NM_001844.4(COL2A1): c.2530C> T (p.Gln844Ter) single nucleotide variant Pathogenic rs794727607 GRCh37 Chromosome 12, 48374432: 48374432
41 COL2A1 NM_001844.4(COL2A1): c.2428G> T (p.Gly810Cys) single nucleotide variant Likely pathogenic rs794727596 GRCh38 Chromosome 12, 47981378: 47981378
42 COL2A1 NM_001844.4(COL2A1): c.2428G> T (p.Gly810Cys) single nucleotide variant Likely pathogenic rs794727596 GRCh37 Chromosome 12, 48375161: 48375161
43 COL2A1 NM_001844.4(COL2A1): c.2015G> C (p.Gly672Ala) single nucleotide variant Pathogenic rs794727546 GRCh38 Chromosome 12, 47983419: 47983419
44 COL2A1 NM_001844.4(COL2A1): c.2015G> C (p.Gly672Ala) single nucleotide variant Pathogenic rs794727546 GRCh37 Chromosome 12, 48377202: 48377202
45 COL2A1 NM_001844.4(COL2A1): c.1924G> T (p.Gly642Ter) single nucleotide variant Pathogenic rs794727472 GRCh38 Chromosome 12, 47984104: 47984104
46 COL2A1 NM_001844.4(COL2A1): c.1924G> T (p.Gly642Ter) single nucleotide variant Pathogenic rs794727472 GRCh37 Chromosome 12, 48377887: 48377887
47 COL2A1 NM_001844.4(COL2A1): c.1861G> A (p.Gly621Arg) single nucleotide variant Likely pathogenic rs794727462 GRCh38 Chromosome 12, 47984572: 47984572
48 COL2A1 NM_001844.4(COL2A1): c.1861G> A (p.Gly621Arg) single nucleotide variant Likely pathogenic rs794727462 GRCh37 Chromosome 12, 48378355: 48378355
49 COL2A1 NM_001844.4(COL2A1): c.1420-2A> C single nucleotide variant Pathogenic rs794727377 GRCh38 Chromosome 12, 47986445: 47986445
50 COL2A1 NM_001844.4(COL2A1): c.1420-2A> C single nucleotide variant Pathogenic rs794727377 GRCh37 Chromosome 12, 48380228: 48380228

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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74 UMLS via Orphanet
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