AOM
MCID: STC005
MIFTS: 41

Stickler Syndrome Type 1 (AOM) malady

Eye, Ear, Bone, Fetal categories

Summaries for Stickler Syndrome Type 1

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 and marshall syndrome, and has symptoms including hypertelorism, flat cheek bones/malar hypoplasia and genu valgum. 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. Related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

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

Aliases & Classifications for Stickler Syndrome Type 1

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet
See all sources

Classifications:

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


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, Q15.8
SNOMED-CT via Orphanet58 78675000
UMLS via Orphanet62 C0265253
MESH via Orphanet36 C537492

Related Diseases for Stickler Syndrome Type 1

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Stickler Syndrome Type 1 family:

stickler syndrome stickler syndrome, type 3
stickler syndrome, type 2 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 43)
idRelated DiseaseScoreTop Affiliating Genes
1stickler syndrome30.7COL2A1, COL11A1
2marshall syndrome30.4COL11A1
3cleft palate30.3COL11A1, COL2A1
4osteoarthritis30.2COL2A1
5n syndrome10.5
6wagner syndrome10.5
7stickler syndrome, type v10.3
8char syndrome10.3
9adult syndrome10.2
10stickler syndrome, type iv10.2
11suarez-stickler syndrome10.2
12ankylosis10.2
13stickler syndrome col2a110.2
14stickler syndrome, type 310.2
15stickler syndrome, type 210.2
16mitral valve prolapse10.2
17osteochondritis dissecans10.2
18dominant cleft palate10.2
19pierre robin sequence10.2
20col2a1-related stickler syndrome10.2
21col9a1-related stickler syndrome10.2
22col9a2-related stickler syndrome10.2
23col2a1-associated stickler syndrome10.2
24col11a1-related stickler syndrome10.2
25col11a2-related stickler syndrome10.2
26blindness10.2
27johanson-blizzard syndrome10.0
28osgood-schlatter's disease10.0
29triple-a syndrome10.0
30coffin-lowry syndrome10.0
31arthropathy10.0
32micro syndrome10.0
33glaucoma, congenital10.0
34osteochondroma10.0
35vitreoretinal degeneration10.0
36bifid uvula10.0
37vitreoretinal dystrophy10.0COL11A1
38sensorineural hearing loss10.0COL11A1
39cataract10.0COL11A1
40short stature10.0COL2A1
41vitreous syneresis10.0COL11A1, COL2A1
42retinal detachment10.0COL2A1, COL11A1
43myopia 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

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

108300,609508,604841,614134,614284

Clinical synopsis from OMIM:

108300

Symptoms:

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

Drugs & Therapeutics for Stickler Syndrome Type 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
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

Animal Models for Stickler Syndrome Type 1 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Stickler Syndrome Type 1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1COL2A1, COL11A1
2MP:00053778.8COL2A1, COL11A1

Publications for Stickler Syndrome Type 1

Genetic Variations for Stickler Syndrome Type 1

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Stickler Syndrome Type 1:

63
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 52QIAGEN, 38NCBI BioSystems Database, 54Reactome
See all sources

Compounds for genes affiliated with Stickler Syndrome Type 1

Sources:
45Novoseek
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Compounds related to Stickler Syndrome Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1oligonucleotide459.1COL2A1, COL11A1

GO Terms for genes affiliated with Stickler Syndrome Type 1

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Stickler Syndrome Type 1

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet