STL1
MCID: STC015
MIFTS: 51

Stickler Syndrome, Type I (STL1)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral 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 54 39
Stickler Syndrome Type 1 58 29 6
Stickler Syndrome, Type 1 73 70
Stickler Syndrome 1 12 72
Stl1 57 72
Aom 57 72
Arthroophthalmopathy, Hereditary Progressive; Aom 57
Arthroophthalmopathy, Hereditary Progressive 57
Arthro-Ophthalmopathy Hereditary Progressive 72
Stickler Syndrome, Membranous Vitreous Type 57
Stickler Syndrome Membranous Vitreous Type 72
Stickler Syndrome, Vitreous Type 1 57
Stickler Syndrome Vitreous Type 1 72
Stickler Syndrome Type I 72

Characteristics:

Orphanet epidemiological data:

58
stickler syndrome type 1
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
stickler syndrome, type i:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Stickler Syndrome, Type I

UniProtKB/Swiss-Prot : 72 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.

MalaCards based summary : Stickler Syndrome, Type I, also known as stickler syndrome type 1, is related to vitreoretinal degeneration and spondyloepiphyseal dysplasia with congenital joint dislocations. An important gene associated with Stickler Syndrome, Type I is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and Focal Adhesion. Affiliated tissues include eye, tongue and bone, and related phenotypes are cataract and skeletal dysplasia

Disease Ontology : 12 A Stickler syndrome that has material basis in heterozygous mutation in the COL2A1 gene on chromosome 12q13.

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) (Updated 05-Apr-2021)

Wikipedia : 73 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
Autosomal Recessive Stickler Syndrome

Diseases related to Stickler Syndrome, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 vitreoretinal degeneration 31.0 COL9A2 COL2A1 COL11A1
2 spondyloepiphyseal dysplasia with congenital joint dislocations 29.8 COL9A2 COL2A1 COL11A1
3 cleft palate, isolated 29.6 COL9A2 COL2A1 COL11A1
4 marshall syndrome 29.5 COL9A2 COL2A1 COL11A1
5 retinal detachment 29.5 COL9A2 COL2A1 COL11A1
6 stickler syndrome 29.4 LOXL3 COL9A2 COL2A1 COL11A1
7 sensorineural hearing loss 29.0 COL9A2 COL2A1 COL11A1
8 myopia 28.9 LOXL3 COL9A2 COL2A1 COL11A1
9 stickler syndrome, type i, nonsyndromic ocular 11.5
10 otitis media 11.2
11 serous glue ear 10.9
12 colitis 10.4
13 colorectal cancer 10.3
14 adenoma 10.2
15 haemophilus influenzae 10.2
16 cataract 10.2
17 inflammatory bowel disease 10.1
18 adenocarcinoma 10.1
19 ulcerative colitis 10.1
20 spondyloarthropathy 1 10.0
21 yemenite deaf-blind hypopigmentation syndrome 10.0
22 inflammatory spondylopathy 10.0
23 hyperostosis 10.0
24 ankylosis 10.0
25 spondylitis 10.0
26 pierre robin syndrome 10.0
27 ptosis 10.0
28 uveitis 10.0
29 retinal degeneration 10.0
30 vitreous detachment 10.0
31 isolated pierre robin sequence 10.0
32 hypochondrogenesis 10.0 COL9A2 COL2A1
33 helicobacter pylori infection 10.0
34 colon adenocarcinoma 10.0
35 spondyloepiphyseal dysplasia congenita 10.0 COL9A2 COL2A1
36 stickler syndrome, type ii 10.0
37 osteochondrosis 10.0 COL9A2 COL2A1
38 bone deterioration disease 9.9 COL9A2 COL2A1
39 kohler's disease 9.9 COL2A1 COL11A1
40 fibrochondrogenesis 1 9.9 COL9A2 COL11A1
41 diastrophic dysplasia 9.9 COL9A2 COL2A1
42 macroglossia 9.9 COL2A1 COL11A1
43 retinal perforation 9.9 COL2A1 COL11A1
44 otospondylomegaepiphyseal dysplasia, autosomal dominant 9.9 COL2A1 COL11A1
45 bone structure disease 9.9 COL9A2 COL2A1
46 achondrogenesis, type ii 9.9 COL2A1 COL11A1
47 pseudoachondroplasia 9.9 COL9A2 COL2A1
48 campomelic dysplasia 9.9 COL9A2 COL2A1
49 intervertebral disc disease 9.9 COL9A2 COL11A1
50 bone development disease 9.8 COL9A2 COL2A1

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:

58 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000518
2 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
3 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
4 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
5 hypoplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0000327
6 retinal detachment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000541
7 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
8 abnormal vitreous humor morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0004327
9 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
10 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
11 mitral valve prolapse 58 31 frequent (33%) Frequent (79-30%) HP:0001634
12 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
13 platyspondyly 58 31 frequent (33%) Frequent (79-30%) HP:0000926
14 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
15 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
16 osteoarthritis 58 31 very rare (1%) Frequent (79-30%) HP:0002758
17 abnormality of vertebral epiphysis morphology 58 31 frequent (33%) Frequent (79-30%) HP:0100734
18 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
19 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
20 conductive hearing impairment 31 occasional (7.5%) HP:0000405
21 scoliosis 31 very rare (1%) HP:0002650
22 spondylolisthesis 31 very rare (1%) HP:0003302
23 bifid uvula 31 very rare (1%) HP:0000193
24 submucous cleft hard palate 31 very rare (1%) HP:0000176
25 morbus scheuermann 31 very rare (1%) HP:0010891
26 kyphosis 31 HP:0002808
27 depressed nasal bridge 31 HP:0005280
28 beaking of vertebral bodies 31 HP:0004568
29 anteverted nares 31 HP:0000463
30 blindness 31 HP:0000618
31 pectus excavatum 31 HP:0000767
32 arachnodactyly 31 HP:0001166
33 disproportionate tall stature 31 HP:0001519
34 glaucoma 31 HP:0000501
35 abnormality of epiphysis morphology 58 Frequent (79-30%)
36 malar flattening 31 HP:0000272
37 midface retrusion 31 HP:0011800
38 pierre-robin sequence 31 HP:0000201
39 arthropathy 31 HP:0003040
40 spondyloepiphyseal dysplasia 31 HP:0002655
41 irregular femoral epiphysis 31 HP:0006361
42 membranous vitreous appearance 31 HP:0031153

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
kyphosis
platyspondyly with anterior wedging

Head And Neck Eyes:
blindness
myopia
glaucoma
retinal detachment
occasional cataracts
more
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal Limbs:
arachnodactyly
arthropathy
flat, irregular femoral epiphyses

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

Growth Other:
marfanoid habitus

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 Face:
flat midface

Growth Height:
normal height

Skeletal:
mild spondyloepiphyseal dysplasia

Clinical features from OMIM®:

108300 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Stickler Syndrome, Type I according to GeneCards Suite gene sharing:

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-1 9.6 COL11A1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.6 COL11A1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.6 LOXL3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.6 LOXL3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.6 LOXL3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.6 LOXL3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-15 9.6 COL11A1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.6 LOXL3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.6 COL11A1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-179 9.6 COL11A1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-18 9.6 COL11A1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.6 COL11A1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.6 COL11A1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.6 COL11A1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.6 LOXL3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.6 LOXL3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.6 COL11A1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.6 COL11A1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.6 COL11A1

MGI Mouse Phenotypes related to Stickler Syndrome, Type I:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.33 COL11A1 COL2A1 COL9A2
2 limbs/digits/tail MP:0005371 9.13 COL11A1 COL2A1 COL9A2
3 skeleton MP:0005390 8.92 COL11A1 COL2A1 COL9A2 LOXL3

Drugs & Therapeutics for Stickler Syndrome, Type I

Search Clinical Trials , 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:

40
Eye, Tongue, Bone

Publications for Stickler Syndrome, Type I

Articles related to Stickler Syndrome, Type I:

(show top 50) (show all 128)
# Title Authors PMID Year
1
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. 6 57
20179744 2010
2
A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia. 6 57
16189708 2005
3
Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. 57 6
11007540 2000
4
Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons. 6 57
10982970 2000
5
Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability. 57 6
10706362 2000
6
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. 6 57
10486316 1999
7
A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. 57 6
8737653 1996
8
A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. 57 6
8434604 1993
9
Procollagen II gene mutation in Stickler syndrome. 6 57
1444917 1992
10
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). 6 57
1677770 1991
11
HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY. 6 57
14299791 1965
12
Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. 61 57
18177466 2008
13
Stickler syndrome: clinical characteristics and diagnostic criteria. 54 57
16152640 2005
14
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. 6
26626311 2016
15
Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea. 6
26709265 2016
16
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. 6
25240749 2014
17
Mosaicism in Stickler syndrome. 6
22522174 2012
18
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 57
21671392 2011
19
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 6
20513134 2010
20
Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity. 57
17318849 2007
21
High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. 57
16752401 2006
22
Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. 6
12939326 2003
23
The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. 57
12544472 2003
24
Prevalence of mitral valve prolapse in Stickler syndrome. 57
12503098 2003
25
Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome. 57
12150217 2002
26
Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey. 57
11388760 2001
27
Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity. 6
10573014 1999
28
Clinical and Molecular genetics of Stickler syndrome. 57
10353778 1999
29
Correlation of linkage data with phenotype in eight families with Stickler syndrome. 57
9805127 1998
30
Marshall syndrome associated with a splicing defect at the COL11A1 locus. 57
9529347 1998
31
Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene. 6
7487609 1995
32
A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis. 6
8406454 1993
33
Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene. 57
1358786 1992
34
Variability of Stickler syndrome. 57
1536174 1992
35
Genetic and clinical heterogeneity of Stickler syndrome. 57
1683158 1991
36
Amplification of the COL2A1 3' variable region used for segregation analysis in a family with the Stickler syndrome. 57
1977683 1990
37
Distinctive cataract in the Stickler syndrome. 57
2378378 1990
38
Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene. 57
2573273 1989
39
Structure of cDNA clones coding for human type II procollagen. The alpha 1(II) chain is more similar to the alpha 1(I) chain than two other alpha chains of fibrillar collagens. 6
2803268 1989
40
Stickler's syndrome. 57
2918540 1989
41
The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen. 57
2896625 1987
42
Stickler's syndrome: a study of 12 families. 57
3651362 1987
43
Prevalence of mitral-valve prolapse in the Stickler syndrome. 57
3728560 1986
44
The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identity. 57
6650564 1983
45
The Weissenbacher-Zweymüller syndrome: possible neonatal expression of the Stickler syndrome. 57
7064999 1982
46
Hereditary vitreoretinal degeneration, cleft lip and palate, deafness, and skeletal dysplasia. 57
6966133 1980
47
Hereditary progressive arthro-ophthalmopathy of Stickler. 57
507166 1979
48
The Stickler syndrome (hereditary arthro-ophthalmopathy). 57
409578 1977
49
The Stickler syndrome (hereditary arthro-ophthalmopathy). 57
1247001 1976
50
Stickler's syndrome (hereditary progressive arthro-ophthalmopathy). 57
4429933 1974

Variations for Stickler Syndrome, Type I

ClinVar genetic disease variations for Stickler Syndrome, Type I:

6 (show top 50) (show all 175)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL2A1 NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) SNV Pathogenic 17355 rs121912866 GRCh37: 12:48372481-48372481
GRCh38: 12:47978698-47978698
2 COL2A1 COL2A1, 1-BP DEL, EX40 Deletion Pathogenic 17358 GRCh37:
GRCh38:
3 COL2A1 NM_001844.5(COL2A1):c.3138del (p.Gly1047fs) Deletion Pathogenic 17365 rs121912873 GRCh37: 12:48371410-48371410
GRCh38: 12:47977627-47977627
4 COL2A1 COL2A1, 1-BP DEL, EX50 Deletion Pathogenic 17373 GRCh37:
GRCh38:
5 COL2A1 COL2A1, IVS17, A-G, -2 SNV Pathogenic 17374 GRCh37:
GRCh38:
6 COL2A1 NM_001844.5(COL2A1):c.1680+1G>A SNV Pathogenic 17382 rs1057524696 GRCh37: 12:48379510-48379510
GRCh38: 12:47985727-47985727
7 COL2A1 NM_001844.5(COL2A1):c.709-2A>G SNV Pathogenic 17398 rs1592232116 GRCh37: 12:48389093-48389093
GRCh38: 12:47995310-47995310
8 COL2A1 NM_001844.5(COL2A1):c.3357_3358insCT (p.Glu1120fs) Insertion Pathogenic 162040 rs672601354 GRCh37: 12:48370672-48370673
GRCh38: 12:47976889-47976890
9 COL2A1 NM_001844.5(COL2A1):c.1191_1199dup (p.Ser400_Gly402dup) Duplication Pathogenic 162041 rs672601355 GRCh37: 12:48381415-48381416
GRCh38: 12:47987632-47987633
10 COL2A1 NM_001844.5(COL2A1):c.578_579GC[1] (p.Ala194fs) Microsatellite Pathogenic 623179 rs1592233968 GRCh37: 12:48390359-48390360
GRCh38: 12:47996576-47996577
11 COL2A1 NM_001844.5(COL2A1):c.491del (p.Pro164fs) Deletion Pathogenic 689620 rs1592235241 GRCh37: 12:48391429-48391429
GRCh38: 12:47997646-47997646
12 COL2A1 NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs) Duplication Pathogenic 692014 rs1592202517 GRCh37: 12:48372167-48372168
GRCh38: 12:47978384-47978385
13 COL2A1 NM_001844.5(COL2A1):c.3598-1G>A SNV Pathogenic 807558 rs1592196867 GRCh37: 12:48369389-48369389
GRCh38: 12:47975606-47975606
14 COL2A1 NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter) SNV Pathogenic 17360 rs121912869 GRCh37: 12:48389687-48389687
GRCh38: 12:47995904-47995904
15 COL2A1 NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) SNV Pathogenic 17383 rs121912884 GRCh37: 12:48379358-48379358
GRCh38: 12:47985575-47985575
16 COL2A1 NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter) SNV Pathogenic 197503 rs748459670 GRCh37: 12:48371798-48371798
GRCh38: 12:47978015-47978015
17 COL2A1 NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter) SNV Pathogenic 449397 rs1555166555 GRCh37: 12:48376723-48376723
GRCh38: 12:47982940-47982940
18 COL2A1 NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg) SNV Pathogenic 430186 rs1131691822 GRCh37: 12:48389546-48389546
GRCh38: 12:47995763-47995763
19 COL11A1 NM_001854.4(COL11A1):c.1630-2del Deletion Pathogenic 372792 rs1057517989 GRCh37: 1:103474074-103474074
GRCh38: 1:103008518-103008518
20 COL2A1 NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) SNV Pathogenic 17395 rs121912893 GRCh37: 12:48377504-48377504
GRCh38: 12:47983721-47983721
21 COL2A1 NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) SNV Pathogenic 17395 rs121912893 GRCh37: 12:48377504-48377504
GRCh38: 12:47983721-47983721
22 COL2A1 NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys) SNV Pathogenic 17368 rs121912876 GRCh37: 12:48387824-48387824
GRCh38: 12:47994041-47994041
23 COL2A1 NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe) SNV Pathogenic 17384 rs121912885 GRCh37: 12:48377218-48377218
GRCh38: 12:47983435-47983435
24 LOXL3 NM_032603.5(LOXL3):c.1330_1332del (p.Leu444del) Deletion Pathogenic 624141 rs574365163 GRCh37: 2:74762799-74762801
GRCh38: 2:74535672-74535674
25 COL2A1 NM_001844.5(COL2A1):c.2678dup (p.Ala895fs) Duplication Pathogenic 966427 GRCh37: 12:48373792-48373793
GRCh38: 12:47980009-47980010
26 COL2A1 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) SNV Pathogenic 195148 rs794727261 GRCh37: 12:48393736-48393736
GRCh38: 12:47999953-47999953
27 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) SNV Pathogenic 17366 rs121912874 GRCh37: 12:48372112-48372112
GRCh38: 12:47978329-47978329
28 COL2A1 NM_001844.5(COL2A1):c.2679+1G>A SNV Pathogenic 802843 rs1592205758 GRCh37: 12:48373791-48373791
GRCh38: 12:47980008-47980008
29 COL2A1 NM_001844.5(COL2A1):c.3642del (p.Gly1215fs) Deletion Pathogenic 635549 rs1592196744 GRCh37: 12:48369344-48369344
GRCh38: 12:47975561-47975561
30 COL2A1 NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter) SNV Pathogenic 598754 rs1565679039 GRCh37: 12:48377182-48377182
GRCh38: 12:47983399-47983399
31 COL2A1 NM_001844.5(COL2A1):c.3731del (p.Ala1244fs) Deletion Pathogenic 547263 rs1555164735 GRCh37: 12:48369255-48369255
GRCh38: 12:47975472-47975472
32 COL2A1 NM_001844.5(COL2A1):c.3166-1G>A SNV Pathogenic 547260 rs1555165204 GRCh37: 12:48371211-48371211
GRCh38: 12:47977428-47977428
33 COL2A1 NM_001844.5(COL2A1):c.2381del (p.Pro794fs) Deletion Pathogenic 547258 rs1555166218 GRCh37: 12:48375587-48375587
GRCh38: 12:47981804-47981804
34 COL2A1 NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser) SNV Pathogenic 547252 rs1025202963 GRCh37: 12:48381438-48381438
GRCh38: 12:47987655-47987655
35 COL2A1 NM_001844.4(COL2A1):c.971delG (p.Gly324Valfs) Deletion Likely pathogenic 547250 rs1555168309 GRCh37: 12:48386713-48386713
GRCh38: 12:47992930-47992930
36 COL2A1 NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter) SNV Likely pathogenic 547245 rs1246771678 GRCh37: 12:48393838-48393838
GRCh38: 12:48000055-48000055
37 COL2A1 NM_001844.5(COL2A1):c.2355+2del Deletion Likely pathogenic 547257 rs1555166295 GRCh37: 12:48375888-48375888
GRCh38: 12:47982105-47982105
38 COL2A1 NM_001844.5(COL2A1):c.2049+1G>A SNV Likely pathogenic 547254 rs1555166658 GRCh37: 12:48377167-48377167
GRCh38: 12:47983384-47983384
39 COL2A1 NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser) SNV Likely pathogenic 802841 rs753342774 GRCh37: 12:48371891-48371891
GRCh38: 12:47978108-47978108
40 COL2A1 NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu) SNV Likely pathogenic 286275 rs886043356 GRCh37: 12:48370901-48370901
GRCh38: 12:47977118-47977118
41 COL2A1 NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter) SNV Likely pathogenic 802844 rs1592206729 GRCh37: 12:48374366-48374366
GRCh38: 12:47980583-47980583
42 COL2A1 NM_001844.5(COL2A1):c.1681-2_1681-1del Deletion Likely pathogenic 667402 rs1592217071 GRCh37: 12:48379371-48379372
GRCh38: 12:47985588-47985589
43 COL2A1 NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser) SNV Likely pathogenic 802846 rs1269619781 GRCh37: 12:48377492-48377492
GRCh38: 12:47983709-47983709
44 COL2A1 NM_001844.5(COL2A1):c.3165+2_3166-84del Deletion Likely pathogenic 988096 GRCh37: 12:48371294-48371381
GRCh38: 12:47977511-47977598
45 COL2A1 NM_001844.5(COL2A1):c.609+4del Deletion Likely pathogenic 520405 rs1555168965 GRCh37: 12:48390327-48390327
GRCh38: 12:47996544-47996544
46 COL9A2 NM_001852.4(COL9A2):c.1774G>A (p.Gly592Ser) SNV Likely pathogenic 635165 rs535212284 GRCh37: 1:40768311-40768311
GRCh38: 1:40302639-40302639
47 COL2A1 NM_001844.5(COL2A1):c.*158C>A SNV Uncertain significance 308897 rs867067070 GRCh37: 12:48367032-48367032
GRCh38: 12:47973249-47973249
48 COL2A1 NM_001844.5(COL2A1):c.1366-13C>A SNV Uncertain significance 308927 rs200984998 GRCh37: 12:48380684-48380684
GRCh38: 12:47986901-47986901
49 COL2A1 NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=) SNV Uncertain significance 287751 rs139114389 GRCh37: 12:48369200-48369200
GRCh38: 12:47975417-47975417
50 COL2A1 NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) SNV Uncertain significance 308931 rs142770543 GRCh37: 12:48388220-48388220
GRCh38: 12:47994437-47994437

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

72
# 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

Expression for Stickler Syndrome, Type I

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

Pathways for Stickler Syndrome, Type I

Pathways related to Stickler Syndrome, Type I according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.39 COL9A2 COL2A1 COL11A1
2
Show member pathways
12.2 COL9A2 COL2A1 COL11A1
3
Show member pathways
11.99 LOXL3 COL9A2 COL2A1 COL11A1
4
Show member pathways
11.58 LOXL3 COL9A2 COL2A1 COL11A1
5
Show member pathways
11.56 COL9A2 COL2A1
6 10.23 COL9A2 COL2A1 COL11A1

GO Terms for Stickler Syndrome, Type I

Cellular components related to Stickler Syndrome, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.67 LOXL3 COL9A2 COL2A1 COL11A1
2 extracellular space GO:0005615 9.62 LOXL3 COL9A2 COL2A1 COL11A1
3 collagen-containing extracellular matrix GO:0062023 9.43 COL9A2 COL2A1 COL11A1
4 endoplasmic reticulum lumen GO:0005788 9.33 COL9A2 COL2A1 COL11A1
5 extracellular matrix GO:0031012 9.13 COL9A2 COL2A1 COL11A1
6 collagen trimer GO:0005581 8.8 COL9A2 COL2A1 COL11A1

Biological processes related to Stickler Syndrome, Type I according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.52 COL2A1 COL11A1
2 sensory perception of sound GO:0007605 9.51 COL2A1 COL11A1
3 skeletal system development GO:0001501 9.49 COL9A2 COL2A1
4 ossification GO:0001503 9.48 COL2A1 COL11A1
5 cartilage development GO:0051216 9.46 COL2A1 COL11A1
6 roof of mouth development GO:0060021 9.43 LOXL3 COL2A1
7 inner ear morphogenesis GO:0042472 9.4 COL2A1 COL11A1
8 heart morphogenesis GO:0003007 9.37 COL2A1 COL11A1
9 extracellular matrix organization GO:0030198 9.33 COL9A2 COL2A1 COL11A1
10 skeletal system morphogenesis GO:0048705 9.32 COL2A1 COL11A1
11 cartilage condensation GO:0001502 9.26 COL2A1 COL11A1
12 proteoglycan metabolic process GO:0006029 8.96 COL2A1 COL11A1
13 collagen fibril organization GO:0030199 8.8 LOXL3 COL2A1 COL11A1

Molecular functions related to Stickler Syndrome, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.13 COL9A2 COL2A1 COL11A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.8 COL9A2 COL2A1 COL11A1

Sources for Stickler Syndrome, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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