AOM
MCID: STC005
MIFTS: 55

Stickler Syndrome Type 1 (AOM) malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases categories
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Summaries for Stickler Syndrome Type 1

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NIH Rare Diseases:42 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

MalaCards based summary: Stickler Syndrome Type 1, also known as arthroophthalmopathy, hereditary progressive, is related to marshall syndrome and osteochondritis dissecans, and has symptoms including depressed premaxillary region/midface, flat cheek bones/malar hypoplasia and hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia. An important gene associated with Stickler Syndrome Type 1 is COL2A1 (collagen, type II, alpha 1), and among its related pathways are Signaling by FGFR and NCAM signaling for neurite out-growth. Affiliated tissues include eye, bone and tongue, and related mouse phenotypes are skeleton and hearing/vestibular/ear.

Descriptions from OMIM:46 108300,604841,609508,614134,614284

Aliases & Classifications for Stickler Syndrome Type 1

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Sources:
48Orphanet, 62UMLS, 42NIH Rare Diseases, 22GTR, 46OMIM, 44Novoseek, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Stickler Syndrome Type 1, Aliases & Descriptions:

Name: Stickler Syndrome Type 1 42 22 48
Arthroophthalmopathy, Hereditary Progressive 42 62
Stickler Syndrome, Type I 46 44
Stickler Syndrome 48 62
Stl1 42 62
 
Stickler Syndrome, Membranous Vitreous Type 42
Hereditary Progressive Arthroophthalmopathy 48
Stickler Syndrome, Vitreous Type 1 42
Aom 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
stickler syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood; Age of death: Normal
stickler syndrome type 1:
Inheritance: Autosomal dominant


External Ids:

MESH via Orphanet35 C537492
ICD10 via Orphanet26 Q87.5
UMLS via Orphanet63 C0265253

Related Diseases for Stickler Syndrome Type 1

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Diseases in the Stickler Syndrome Type 1 family:

Stickler Syndrome Stickler Syndrome, Type 2
Stickler Syndrome, Type 3 Col2a1-Related Stickler Syndrome
Col9a1-Related Stickler Syndrome Col9a2-Related Stickler Syndrome
Col11a1-Related Stickler Syndrome Col11a2-Related Stickler Syndrome
Stickler Syndrome, Type V Stickler Syndrome, Type Iv

Diseases related to Stickler Syndrome Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1marshall syndrome30.6COL11A1
2osteochondritis dissecans30.4COL9A1, COL9A2
3cleft palate30.3COL2A1, COL11A1
4retinal detachment30.2COL2A1, COL11A1
5stickler syndrome30.1COL9A1, COL2A1, COL11A1, COL9A2
6osteoarthritis30.0COL9A2, COL2A1, COL9A1
7otitis media10.4
8stickler syndrome col2a110.4
9stickler syndrome, type iv10.3
10suarez-stickler syndrome10.3
11retinitis10.2
12stickler syndrome, type 210.2
13stickler syndrome, type 310.2
14cataract10.2
15mitral valve prolapse10.2
16pierre robin sequence10.2
17col2a1-related stickler syndrome10.2
18col9a1-related stickler syndrome10.2
19col9a2-related stickler syndrome10.2
20col2a1-associated stickler syndrome10.2
21col11a1-related stickler syndrome10.2
22col11a2-related stickler syndrome10.2
23stickler syndrome, type v10.2
24blindness10.2
25campomelic dysplasia10.1COL9A2, COL2A1
26multiple epiphyseal dysplasia10.1COL9A1, COL9A2
27multiple epiphyseal dysplasia, dominant10.1COL9A1, COL9A2
28colon cancer10.1
29diastrophic dysplasia10.1COL2A1, COL9A2
30hemangioma10.1
31johanson-blizzard syndrome10.1
32ankylosis10.1
33coffin-lowry syndrome10.1
34arthropathy10.1
35capillary hemangioma10.1
36chorioretinitis10.1
37lipoma10.1
38myopia10.1
39retinal degeneration10.1
40vitreoretinal degeneration10.1
41wagner syndrome10.1
42bifid uvula10.1
43pseudoachondroplasia10.0COL9A1, COL9A2
44vitreous syneresis10.0COL2A1, COL11A1
45sensorineural hearing loss9.8COL2A1, COL11A1
46myopia 69.8COL2A1, COL11A1

Graphical network of the top 20 diseases related to Stickler Syndrome Type 1:



Diseases related to stickler syndrome type 1

Symptoms for Stickler Syndrome Type 1

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Symptoms by clinical synopsis from OMIM:

108300

Clinical features from OMIM:

108300,604841,609508,614134,614284

Symptoms:

48 (show all 69)
  • depressed premaxillary region/midface
  • flat cheek bones/malar hypoplasia
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • cataract/lens opacification
  • vitreous anomalies/hyalitis/persistent vitreous vascularisation
  • retinal detachment
  • myopia
  • epicanthic folds
  • telecanthus/canthal dystopy
  • short/small nose
  • depressed nasal bridge
  • long philtrum
  • abnormal vertebral size/shape
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • epiphyseal anomaly
  • articular/joint pain/arthralgia
  • autosomal dominant inheritance
  • proptosis/exophthalmos
  • micrognathia/retrognathia/micrognathism/retrognathism
  • astigmatism
  • flattened nose
  • anteverted nares/nostrils
  • cleft lip
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • glossoptosis
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • hearing loss/hypoacusia/deafness
  • sensorineural deafness/hearing loss
  • chronic/relapsing otitis
  • pectus carinatum
  • kyphosis
  • scoliosis
  • platyspondyly
  • long hand/arachnodactyly
  • genu valgum
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • repeat respiratory infections
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • cardiac rhythm disorder/arrhythmia
  • hypotonia
  • bone pain
  • osteoarthritis
  • hyperextensible joints/articular hyperlaxity
  • joint dislocation/subluxation
  • marfanoid morphotype
  • hypertelorism
  • dental malocclusion
  • glaucoma
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • lens dislocation/luxation/subluxation/ectopia lentis
  • visual loss/blindness/amblyopia
  • strabismus/squint
  • short palate
  • anodontia/oligodontia/hypodontia
  • enamel anomaly
  • premature eruption of teeth/natal teeth
  • rachidian/spine canal stenosis
  • coxa profunda/acetabular protrusion
  • long limbs/dolichostenomelia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • diaphyseal anomaly
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • epiphyseal vertebral anomaly
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Stickler Syndrome Type 1:

(show all 102)
id Description Frequency HPO Source Accession
1 malar flattening hallmark (90%) HP:0000272
2 epicanthus hallmark (90%) HP:0000286
3 long philtrum hallmark (90%) HP:0000343
4 telecanthus hallmark (90%) HP:0000506
5 cataract hallmark (90%) HP:0000518
6 retinal detachment hallmark (90%) HP:0000541
7 myopia hallmark (90%) HP:0000545
8 skeletal dysplasia hallmark (90%) HP:0002652
9 arthralgia hallmark (90%) HP:0002829
10 short nose hallmark (90%) HP:0003196
11 abnormality of the vitreous humor hallmark (90%) HP:0004327
12 depressed nasal bridge hallmark (90%) HP:0005280
13 abnormality of the epiphyses hallmark (90%) HP:0005930
14 cheekbone underdevelopment hallmark (90%) HP:0010669
15 long philtrum hallmark (90%) HP:0000343
16 cataract hallmark (90%) HP:0000518
17 retinal detachment hallmark (90%) HP:0000541
18 myopia hallmark (90%) HP:0000545
19 skeletal dysplasia hallmark (90%) HP:0002652
20 short nose hallmark (90%) HP:0003196
21 abnormality of the vitreous humor hallmark (90%) HP:0004327
22 glossoptosis typical (50%) HP:0000162
23 cleft palate typical (50%) HP:0000175
24 cleft upper lip typical (50%) HP:0000204
25 micrognathia typical (50%) HP:0000347
26 otitis media typical (50%) HP:0000388
27 sensorineural hearing impairment typical (50%) HP:0000407
28 depressed nasal ridge typical (50%) HP:0000457
29 anteverted nares typical (50%) HP:0000463
30 astigmatism typical (50%) HP:0000483
31 proptosis typical (50%) HP:0000520
32 pectus carinatum typical (50%) HP:0000768
33 platyspondyly typical (50%) HP:0000926
34 arachnodactyly typical (50%) HP:0001166
35 muscular hypotonia typical (50%) HP:0001252
36 joint dislocation typical (50%) HP:0001373
37 joint hypermobility typical (50%) HP:0001382
38 disproportionate tall stature typical (50%) HP:0001519
39 abnormality of the mitral valve typical (50%) HP:0001633
40 recurrent respiratory infections typical (50%) HP:0002205
41 scoliosis typical (50%) HP:0002650
42 bone pain typical (50%) HP:0002653
43 osteoarthritis typical (50%) HP:0002758
44 kyphosis typical (50%) HP:0002808
45 genu valgum typical (50%) HP:0002857
46 arrhythmia typical (50%) HP:0011675
47 cleft palate typical (50%) HP:0000175
48 sensorineural hearing impairment typical (50%) HP:0000407
49 proptosis typical (50%) HP:0000520
50 platyspondyly typical (50%) HP:0000926
51 joint hypermobility typical (50%) HP:0001382
52 disproportionate tall stature typical (50%) HP:0001519
53 abnormality of the mitral valve typical (50%) HP:0001633
54 osteoarthritis typical (50%) HP:0002758
55 arthralgia typical (50%) HP:0002829
56 abnormality of the vertebral epiphyses typical (50%) HP:0100734
57 conductive hearing impairment occasional (7.5%) HP:0000405
58 cataract occasional (7.5%) HP:0000518
59 hypertelorism occasional (7.5%) HP:0000316
60 strabismus occasional (7.5%) HP:0000486
61 glaucoma occasional (7.5%) HP:0000501
62 visual impairment occasional (7.5%) HP:0000505
63 abnormality of dental enamel occasional (7.5%) HP:0000682
64 dental malocclusion occasional (7.5%) HP:0000689
65 ectopia lentis occasional (7.5%) HP:0001083
66 disproportionate tall stature occasional (7.5%) HP:0001519
67 protrusio acetabuli occasional (7.5%) HP:0003179
68 amyotrophy occasional (7.5%) HP:0003202
69 spinal canal stenosis occasional (7.5%) HP:0003416
70 short stature occasional (7.5%) HP:0004322
71 decreased body weight occasional (7.5%) HP:0004325
72 reduced bone mineral density occasional (7.5%) HP:0004349
73 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
74 advanced eruption of teeth occasional (7.5%) HP:0006288
75 reduced number of teeth occasional (7.5%) HP:0009804
76 short hard palate occasional (7.5%) HP:0010290
77 inflammatory abnormality of the eye occasional (7.5%) HP:0100533
78 visual impairment occasional (7.5%) HP:0000505
79 cognitive impairment occasional (7.5%) HP:0100543
80 autosomal dominant inheritance HP:0000006
81 cleft palate HP:0000175
82 pierre-robin sequence HP:0000201
83 malar flattening HP:0000272
84 sensorineural hearing impairment HP:0000407
85 anteverted nares HP:0000463
86 glaucoma HP:0000501
87 retinal detachment HP:0000541
88 myopia HP:0000545
89 blindness HP:0000618
90 pectus excavatum HP:0000767
91 platyspondyly HP:0000926
92 arachnodactyly HP:0001166
93 disproportionate tall stature HP:0001519
94 mitral valve prolapse HP:0001634
95 scoliosis HP:0002650
96 spondyloepiphyseal dysplasia HP:0002655
97 kyphosis HP:0002808
98 arthropathy HP:0003040
99 beaking of vertebral bodies HP:0004568
100 depressed nasal bridge HP:0005280
101 irregular femoral epiphyses HP:0006361
102 abnormality of femoral epiphyses HP:0006499

Drugs & Therapeutics for Stickler Syndrome Type 1

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Drug clinical trials:

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Search NIH Clinical Center for Stickler Syndrome Type 1

Genetic Tests for Stickler Syndrome Type 1

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Genetic tests related to Stickler Syndrome Type 1:

id Genetic test Affiliating Genes
1 Stickler Syndrome Type 122

Anatomical Context for Stickler Syndrome Type 1

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MalaCards organs/tissues related to Stickler Syndrome Type 1:

32
Eye, Bone, Tongue

Animal Models for Stickler Syndrome Type 1 or affiliated genes

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MGI Mouse Phenotypes related to Stickler Syndrome Type 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5COL9A1, COL2A1, COL11A1
2MP:00053778.4COL9A1, COL2A1, COL11A1
3MP:00053718.2COL9A1, COL2A1, COL11A1

Publications for Stickler Syndrome Type 1

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Articles related to Stickler Syndrome Type 1:

idTitleAuthorsYear
1
Stickler syndrome type 1 accompanied by membranous vitreous anomaly in two Japanese sisters. (24164106)
2014
2
Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity. (17318849)
2007
3
Retinal detachment in identical twins with Stickler syndrome type 1. (8976725)
1996

Variations for Stickler Syndrome Type 1

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UniProtKB/Swiss-Prot genetic disease variations for Stickler Syndrome Type 1:

64
id Symbol AA change Variation ID SNP ID
1COL2A1p.Arg904CysVAR_017645
2COL2A1p.Arg565CysVAR_023927
3COL2A1p.Gly240AspVAR_063892
4COL2A1p.Gly270ArgVAR_063893
5COL2A1p.Gly282AspVAR_063894
6COL2A1p.Gly453AlaVAR_063895
7COL2A1p.Gly501ArgVAR_063896
8COL2A1p.Gly1158AlaVAR_063898

Clinvar genetic disease variations for Stickler Syndrome Type 1:

6 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1COL11A1NM_080629.2(COL11A1): c.1910G> T (p.Gly637Val)single nucleotide variantPathogenicrs121912943GRCh37Chr 1, 103470189: 103470189
2COL11A1COL11A1, 54-BP EX DEL, AS, AG-TGdeletionPathogenic
3COL9A1NM_001851.4(COL9A1): c.883C> T (p.Arg295Ter)single nucleotide variantPathogenicrs121912931GRCh37Chr 6, 70990736: 70990736
4COL2A1NM_001844.4(COL2A1): c.2794C> T (p.Arg932Ter)single nucleotide variantPathogenicrs121912866GRCh37Chr 12, 48372481: 48372481
5COL2A1COL2A1, 1-BP DEL, EX40deletionPathogenic
6COL2A1NM_001844.4(COL2A1): c.625C> T (p.Arg209Ter)single nucleotide variantPathogenicrs121912869GRCh37Chr 12, 48389687: 48389687
7COL2A1NM_001844.4(COL2A1): c.3138delT (p.Gly1047Alafs)deletionPathogenicrs121912873GRCh37Chr 12, 48371410: 48371410
8COL2A1COL2A1, 1-BP DEL, EX50deletionPathogenic
9COL2A1COL2A1, IVS17, A-G, -2single nucleotide variantPathogenic
10COL2A1COL2A1, IVS25DS, G-A, +1single nucleotide variantPathogenic
11COL2A1NM_001844.4(COL2A1): c.1693C> T (p.Arg565Cys)single nucleotide variantPathogenicrs121912884GRCh37Chr 12, 48379358: 48379358
12COL2A1NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter)single nucleotide variantPathogenicrs121912893GRCh37Chr 12, 48377504: 48377504
13COL9A2COL9A2, 8-BP DEL, NT843deletionPathogenic

Expression for genes affiliated with Stickler Syndrome Type 1

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Expression patterns in normal tissues for genes affiliated with Stickler Syndrome Type 1

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Pathways for genes affiliated with Stickler Syndrome Type 1

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Pathways related to Stickler Syndrome Type 1 according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3COL9A2, COL9A1
2
Show member pathways
9.3COL9A2, COL9A1
39.3COL9A1, COL9A2
4
Show member pathways
9.3COL9A1, COL9A2
59.3COL9A1, COL9A2
69.1COL2A1, COL11A1
7
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
9.1COL11A1, COL2A1
89.1COL11A1, COL2A1
9
Show member pathways
8.0COL9A2, COL11A1, COL2A1, COL9A1
10
Show member pathways
8.0COL11A1, COL9A1, COL2A1, COL9A2
11
Show member pathways
8.0COL2A1, COL11A1, COL9A2, COL9A1
12
Show member pathways
8.0COL9A1, COL9A2, COL11A1, COL2A1
13
Show member pathways
8.0COL9A1, COL9A2, COL11A1, COL2A1
148.0COL9A1, COL9A2, COL11A1, COL2A1

Compounds for genes affiliated with Stickler Syndrome Type 1

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GO Terms for genes affiliated with Stickler Syndrome Type 1

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Cellular components related to Stickler Syndrome Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type IXGO:0055949.0COL9A2, COL9A1
2extracellular regionGO:0055768.0COL9A2, COL11A1, COL2A1, COL9A1
3endoplasmic reticulum lumenGO:0057887.9COL9A2, COL11A1, COL2A1, COL9A1

Biological processes related to Stickler Syndrome Type 1 according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1tissue homeostasisGO:0018949.5COL2A1, COL9A1
2proteoglycan metabolic processGO:0060299.3COL2A1, COL11A1
3cartilage condensationGO:0015029.3COL2A1, COL11A1
4collagen fibril organizationGO:0301999.2COL2A1, COL11A1
5inner ear morphogenesisGO:0424729.1COL11A1, COL2A1
6skeletal system developmentGO:0015019.1COL2A1, COL9A2
7visual perceptionGO:0076019.1COL2A1, COL11A1
8sensory perception of soundGO:0076059.0COL2A1, COL11A1
9axon guidanceGO:0074118.9COL9A1, COL2A1, COL9A2
10collagen catabolic processGO:0305748.2COL9A1, COL2A1, COL11A1, COL9A2
11extracellular matrix disassemblyGO:0226178.2COL9A2, COL11A1, COL2A1, COL9A1
12extracellular matrix organizationGO:0301988.2COL9A1, COL2A1, COL11A1, COL9A2

Molecular functions related to Stickler Syndrome Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1metal ion bindingGO:0468728.5COL9A1, COL2A1, COL11A1
2extracellular matrix structural constituent conferring tensile strengthGO:0300208.5COL9A1, COL2A1, COL9A2

Products for genes affiliated with Stickler Syndrome Type 1

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  • Antibodies
  • Proteins
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Sources for Stickler Syndrome Type 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet