AOM
MCID: STC005
MIFTS: 44

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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Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Stickler syndrome is a group of hereditary connective tissue disorders characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. these signs and symptoms vary widely among affected individuals. there are two subgroups of stickler syndrome type i. one that is sometimes called the membranous vitreous type and another, which is solely or predominantly ocular. both are caused by mutations in the  col2a1 gene. stickler syndrome type ii, sometimes called the beaded vitreous type, is caused by mutation in the col11a1 gene. stickler syndrome type iii, sometimes called the nonocular form, is caused by mutation in the col11a2 gene. these forms of stickler syndrome follow an autosomal dominant pattern of inheritance. stickler syndrome type iv is caused by mutation in the col9a1 gene. stickler syndrome type v is caused by mutation in the col9a2 gene. these types of stickler syndrome are inherited in an autosomal recessive manner. last updated: 2/8/2012

MalaCards: Stickler Syndrome Type 1, also known as stickler syndrome, type i, is related to stickler syndrome, type 2 and stickler syndrome, type 3, and has symptoms including dental malocclusion, long limbs/dolichostenomelia and hemiplegia/diplegia/hemiparesia/limb palsy. An important gene associated with Stickler Syndrome Type 1 is COL2A1 (collagen, type II, alpha 1). Affiliated tissues include eye, bone and tongue.

Description from OMIM:47 108300,609508,604841,614134,614284

Aliases & Classifications for Stickler Syndrome Type 1

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49Orphanet, 43NIH Rare Diseases, 22GTR, 47OMIM, 45Novoseek, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
hereditary progressive arthroophthalmopathy:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood; Age of death: Normal
stickler syndrome type 1:
Inheritance: Autosomal dominant


Aliases & Descriptions:

stickler syndrome type 1 43 22 49
stickler syndrome, type i 47 45
arthroophthalmopathy, hereditary progressive 43
stickler syndrome, membranous vitreous type 43
hereditary progressive arthroophthalmopathy 49
stickler syndrome, vitreous type 1 43
stickler syndrome 49
stl1 43
aom 43


External Ids:

ICD10 via Orphanet26 Q87.5
SNOMED-CT via Orphanet59 78675000
UMLS via Orphanet63 C0265253
MESH via Orphanet36 C537492

Related Diseases for Stickler Syndrome Type 1

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

108300

Clinical features from OMIM:

108300,609508,604841,614134,614284

Symptoms:

49 (show all 69)
  • dental malocclusion
  • 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
  • coxa profunda/acetabular protrusion
  • rachidian/spine canal stenosis
  • 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
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • cataract/lens opacification
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • epiphyseal anomaly
  • articular/joint pain/arthralgia
  • osteoarthritis
  • hyperextensible joints/articular hyperlaxity
  • marfanoid morphotype
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • epiphyseal vertebral anomaly
  • platyspondyly
  • sensorineural deafness/hearing loss
  • retinal detachment
  • myopia
  • short/small nose
  • long philtrum
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • autosomal dominant inheritance
  • proptosis/exophthalmos
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • vitreous anomalies/hyalitis/persistent vitreous vascularisation
  • depressed premaxillary region/midface
  • micrognathia/retrognathia/micrognathism/retrognathism
  • astigmatism
  • flattened nose
  • anteverted nares/nostrils
  • abnormal vertebral size/shape
  • depressed nasal bridge
  • flat cheek bones/malar hypoplasia
  • epicanthic folds
  • telecanthus/canthal dystopy
  • cleft lip
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • repeat respiratory infections
  • cardiac rhythm disorder/arrhythmia
  • hypotonia
  • bone pain
  • joint dislocation/subluxation
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • genu valgum
  • long hand/arachnodactyly
  • glossoptosis
  • hearing loss/hypoacusia/deafness
  • chronic/relapsing otitis
  • pectus carinatum
  • kyphosis
  • scoliosis
  • hypertelorism

Drugs & Therapeutics for Stickler Syndrome Type 1

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Stickler Syndrome Type 1

Search NIH Clinical Center for Stickler Syndrome Type 1

Genetic Tests for Stickler Syndrome Type 1

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22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Stickler Syndrome Type 1:

33
Eye, Bone, Tongue

Animal Models for Stickler Syndrome Type 1 or affiliated genes

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Publications for Stickler Syndrome Type 1

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Sources:
52PubMed
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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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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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:

1
id Gene Name Type Significance SNP ID Assembly Location
1COL2A1NM_001844.4(COL2A1): c.2794C> T (p.Arg932Ter)single nucleotide variantPathogenicrs121912866GRCh37Chr 12, 48372481: 48372481
2COL2A1COL2A1, 1-BP DEL, EX40deletionPathogenic
3COL2A1NM_001844.4(COL2A1): c.625C> T (p.Arg209Ter)single nucleotide variantPathogenicrs121912869GRCh37Chr 12, 48389687: 48389687
4COL2A1NM_001844.4(COL2A1): c.3138delT (p.Gly1047Alafs)deletionPathogenicrs121912873GRCh37Chr 12, 48371410: 48371410
5COL2A1COL2A1, 1-BP DEL, EX50deletionPathogenic
6COL2A1COL2A1, IVS17, A-G, -2single nucleotide variantPathogenic
7COL2A1COL2A1, IVS25DS, G-A, +1single nucleotide variantPathogenic
8COL2A1NM_001844.4(COL2A1): c.1693C> T (p.Arg565Cys)single nucleotide variantPathogenicrs121912884GRCh37Chr 12, 48379358: 48379358
9COL2A1NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter)single nucleotide variantPathogenicrs121912893GRCh37Chr 12, 48377504: 48377504

Expression for genes affiliated with Stickler Syndrome Type 1

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2BioGPS, 15Gene Expression Omnibus DataSets
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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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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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Products for genes affiliated with Stickler Syndrome Type 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Stickler Syndrome Type 1

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet