AOM
MCID: STC005
MIFTS: 53

Stickler Syndrome Type 1 (AOM) malady

Eye diseases, Ear diseases, Bone diseases, Fetal diseases categories

Summaries for Stickler Syndrome Type 1

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 and cleft palate, 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), and among its related pathways are PI3K-Akt signaling pathway and PTEN Pathway. The compound oligonucleotide have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and tongue, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

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

Aliases & Classifications for Stickler Syndrome Type 1

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Eye diseases, Ear diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
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 42 22 48
stickler syndrome, type i 46 44
arthroophthalmopathy, hereditary progressive 42
stickler syndrome, membranous vitreous type 42
hereditary progressive arthroophthalmopathy 48
stickler syndrome, vitreous type 1 42
stickler syndrome 48
stl1 42
aom 42


External Ids:

ICD10 via Orphanet26 Q87.5
SNOMED-CT via Orphanet57 78675000
UMLS via Orphanet61 C0265253
MESH via Orphanet35 C537492

Related Diseases for Stickler Syndrome Type 1

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Stickler Syndrome Type 1 family:

Stickler Syndrome Stickler Syndrome, Type 3
Stickler Syndrome, Type 2 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 41)
idRelated DiseaseScoreTop Affiliating Genes
1stickler syndrome30.7COL2A1, COL11A1
2cleft palate30.3COL11A1, COL2A1
3retinal detachment30.2COL2A1, COL11A1
4marshall syndrome30.2COL11A1
5osteoarthritis30.2COL2A1
6cataract30.2COL11A1
7otitis media10.4
8adult syndrome10.2
9stickler syndrome, type iv10.2
10suarez-stickler syndrome10.2
11ankylosis10.2
12stickler syndrome col2a110.2
13stickler syndrome, type 310.2
14stickler syndrome, type 210.2
15retinitis10.2
16mitral valve prolapse10.1
17osteochondritis dissecans10.1
18col2a1-related stickler syndrome10.1
19col9a1-related stickler syndrome10.1
20col9a2-related stickler syndrome10.1
21col2a1-associated stickler syndrome10.1
22col11a1-related stickler syndrome10.1
23col11a2-related stickler syndrome10.1
24stickler syndrome, type v10.1
25colon cancer10.0
26johanson-blizzard syndrome10.0
27coffin-lowry syndrome10.0
28arthropathy10.0
29capillary hemangioma10.0
30chorioretinitis10.0
31glaucoma10.0
32hemangioma10.0
33lipoma10.0
34myopia10.0
35retinal degeneration10.0
36triple x syndrome10.0
37vitreoretinal dystrophy10.0COL11A1
38sensorineural hearing loss10.0COL11A1
39short stature10.0COL2A1
40vitreous syneresis10.0COL11A1, COL2A1
41myopia 610.0COL11A1, COL2A1

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



Diseases related to stickler syndrome type 1

Clinical Features for Stickler Syndrome Type 1

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

108300,609508,604841,614134,614284

Clinical synopsis from OMIM:

108300

Symptoms:

48 (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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Stickler Syndrome Type 1

Drug clinical trials:

Search ClinicalTrials for Stickler Syndrome Type 1

Search NIH Clinical Center for Stickler Syndrome Type 1

Search CenterWatch 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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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Stickler Syndrome Type 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1COL2A1, COL11A1
2MP:00053778.8COL2A1, COL11A1

Publications for Stickler Syndrome Type 1

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Genetic Variations for Stickler Syndrome Type 1

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Stickler Syndrome Type 1:

62
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

Expression for genes affiliated with Stickler Syndrome Type 1

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Stickler Syndrome Type 1

Search GEO for disease gene expression data for Stickler Syndrome Type 1.

Pathways for genes affiliated with Stickler Syndrome Type 1

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Sources:
29KEGG, 51QIAGEN, 37NCBI BioSystems Database, 53Reactome
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Compounds for genes affiliated with Stickler Syndrome Type 1

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44Novoseek
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Compounds related to Stickler Syndrome Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1oligonucleotide449.1COL2A1, COL11A1

GO Terms for genes affiliated with Stickler Syndrome Type 1

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16Gene Ontology
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Cellular components related to Stickler Syndrome Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.1COL2A1, COL11A1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:0060299.3COL2A1, COL11A1
2cartilage condensationGO:0015029.3COL2A1, COL11A1
3collagen fibril organizationGO:0301999.3COL2A1, COL11A1
4inner ear morphogenesisGO:0424729.2COL2A1, COL11A1
5collagen catabolic processGO:0305749.2COL11A1, COL2A1
6extracellular matrix disassemblyGO:0226179.1COL2A1, COL11A1
7extracellular matrix organizationGO:0301989.1COL2A1, COL11A1
8sensory perception of soundGO:0076059.0COL2A1, COL11A1
9visual perceptionGO:0076018.8COL2A1, COL11A1

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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet