MCID: STC001
MIFTS: 50

Stickler Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases categories

Summaries for Stickler Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 35MedlinePlus, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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MedlinePlus:35 Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. they happen early during pregnancy. a baby can have a cleft lip, a cleft palate, or both. a cleft lip happens if the tissue that makes up the lip does not join completely before birth. this causes an opening in the upper lip. the opening can be a small slit or a large opening that goes through the lip into the nose. it can be on one or both sides of the lip or, rarely, in the middle of the lip. children with a cleft lip also can have a cleft palate. the roof of the mouth is called the "palate." with a cleft palate, the tissue that makes up the roof of the mouth does not join correctly. babies may have both the front and back parts of the palate open, or they may have only one part open. children with a cleft lip or a cleft palate often have problems with feeding and talking. they also might have ear infections, hearing loss, and problems with their teeth. often, surgery can close the lip and palate. cleft lip surgery is usually done before age 12 months, and cleft palate surgery is done before 18 months. many children have other complications. they may need additional surgeries, dental and orthodontic care, and speech therapy as they get older. with treatment, most children with clefts do well and lead a healthy life. centers for disease control and prevention

MalaCards: Stickler Syndrome, also known as cleft lip and palate, is related to retinal detachment and cleft palate. An important gene associated with Stickler Syndrome is COL9A2 (collagen, type IX, alpha 2), and among its related pathways are Neural Crest Differentiation and Integrin cell surface interactions. Affiliated tissues include eye and bone, and related mouse phenotypes are skeleton and hearing/vestibular/ear.

Genetics Home Reference:22 Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals.

NIH Rare Diseases:44 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

Wikipedia:66 Stickler syndrome (hereditary progressive arthro-ophthalmopathy) is a group of genetic disorders... more...

Description from OMIM:48 108300,184840,604841

GeneReviews summary for stickler

Aliases & Classifications for Stickler Syndrome

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9Disease Ontology, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 35MedlinePlus, 48OMIM
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Classifications:



Aliases & Descriptions:

stickler syndrome 9 66 20 44 21 23 22 11
cleft lip and palate 66 23 35
hereditary arthro-ophthalmopathy 66 22
hereditary arthro-ophthalmo-dystrophy 22
arthro-ophthalmopathy 20
stickler dysplasia 22


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Disease Ontology9 DOID:0080046

Related Diseases for Stickler Syndrome

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18GeneCards, 19GeneDecks
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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 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 228)
idRelated DiseaseScoreTop Affiliating Genes
1retinal detachment30.7COL2A1, COL11A1
2cleft palate30.5COL2A1, COL11A1, COL11A2
3marshall syndrome30.4COL11A1
4diastrophic dysplasia30.4COL9A2, COL2A1
5osteochondritis dissecans30.4COL9A1, COL9A2
6ehlers-danlos syndrome30.3COL2A1, COL5A2
7osteoarthritis30.3COL11A2, COL9A2, COL2A1, COL9A1
8cleft lip11.5
9stickler syndrome type 110.8
10stickler syndrome, type 210.7
11stickler syndrome, type 310.6
12ectodermal dysplasia10.6
13mental retardation10.6
14retinitis10.5
15aicardi syndrome10.5
16holoprosencephaly10.5
17syndactyly10.5
18gingivitis10.5
19gingival recession10.4
20otitis media10.4
21anencephaly10.4
22van der woude syndrome10.4
23blepharo-cheilo-odontic syndrome10.4
24panhypopituitarism10.4
25pharyngitis10.4
26nasopharyngitis10.4
27tooth agenesis10.4
28fibrous dysplasia10.4
29hypertelorism, microtia, facial clefting syndrome10.4
30cervicitis10.4
31orofacial cleft10.4
32cleft lip and palate malrotation cardiopathy10.4
33fetal hydantoin syndrome10.4
34iniencephaly10.4
35meningoencephalocele10.4
36michels syndrome10.4
37pilotto syndrome10.4
38cleft lip +/- cleft palate10.4
39single median maxillary central incisor10.4
40coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation10.4
41popliteal pterygium syndrome 2, lethal type10.4
42alobar holoprosencephaly10.4
43stickler syndrome col2a110.3
44stickler syndrome, type iv10.3
45suarez-stickler syndrome10.3
46rothmund-thomson syndrome10.2
47hajdu-cheney syndrome10.2
48pearson syndrome10.2
49aarskog-scott syndrome10.2
50meckel's diverticulum10.2

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



Diseases related to stickler syndrome

Symptoms for Stickler Syndrome

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48OMIM
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Clinical features from OMIM:

108300,184840,604841

Drugs & Therapeutics for Stickler Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Stickler Syndrome

Drug clinical trials:

Search ClinicalTrials for Stickler Syndrome

Search NIH Clinical Center for Stickler Syndrome

Search CenterWatch for Stickler Syndrome

Genetic Tests for Stickler Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Stickler Syndrome:

id Genetic test Affiliating Genes
1 Stickler Syndrome21 23 COL9A2
2 Cleft Lip/palate23

Anatomical Context for Stickler Syndrome

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34MalaCards
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MalaCards organs/tissues related to Stickler Syndrome:

34
Eye, Bone

Animal Models for Stickler Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Stickler Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.9COL11A2, COL5A2, COL11A1, COL2A1, COL9A1
2MP:00053778.4COL11A2, COL11A1, COL2A1, COL9A1, HMX3

Publications for Stickler Syndrome

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53PubMed
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Articles related to Stickler Syndrome:

(show top 50)    (show all 147)
idTitleAuthorsYear
1
Stickler syndrome type 1 accompanied by membranous vitreous anomaly in two Japanese sisters. (24164106)
2014
2
Stickler syndrome associated with congenital glaucoma. (23374481)
2013
3
Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation. (21777803)
2011
4
The clinical effectiveness and safety of prophylactic retinal interventions to reduce the risk of retinal detachment and subsequent vision loss in adults and children with Stickler syndrome: a systematic review. (21466760)
2011
5
Evidence of reduced bone turnover and disturbed mineralization process in a boy with Stickler syndrome. (20012270)
2010
6
Adult presentation of Stickler syndrome type III. (20112039)
2010
7
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
8
Analysis of the vitreous membrane in a case of type 1 Stickler syndrome. (19089441)
2009
9
Retrospective review of Stickler syndrome patients with cleft palate 1997-2004. (18844904)
2008
10
Surgical difficulties for Total Knee Replacement in Stickler syndrome: A case report. (18816376)
2008
11
Visual complications of Stickler syndrome in paediatric patients with Robin sequence. (17442580)
2007
12
Outcomes of surgery for retinal detachment in patients with Stickler syndrome: a comparison of two sequential 20-year cohorts. (17579881)
2007
13
Orthodontic treatment of a patient with Stickler syndrome. (17902239)
2007
14
Difficulties in anesthetic management of patients with micrognathia: report of a patient with Stickler syndrome. (17138163)
2006
15
A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome. (15372529)
2004
16
The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. (12544472)
2003
17
Synovial osteochondromatosis in hereditary arthro-ophthalmopathy (Wagner-Stickler syndrome). (12719932)
2003
18
Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. (12686304)
2003
19
Vitreous phenotype: genotype correlation in Stickler syndrome. (11954783)
2002
20
Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family. (12429249)
2002
21
Hearing impairment in Stickler syndrome. (12408087)
2002
22
Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome. (12204008)
2002
23
The hip in Stickler syndrome. (11521037)
2001
24
Hereditary arthro-ophthalmopathy (Stickler syndrome). (11127688)
2000
25
Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability. (10706362)
2000
26
The Stickler syndrome: case reports and literature review. (10970261)
2000
27
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. (11007540)
2000
28
Clinical and Molecular genetics of Stickler syndrome. (10353778)
1999
29
Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha-2(XI) chain of type XI collagen. (9506662)
1998
30
Hereditary arthro-ophthalmopathy (Stickler syndrome): a diagnosis to consider in familial premature osteoarthritis. (8000751)
1994
31
A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. (7833911)
1994
32
Prenatal exclusion of Stickler syndrome. (7910400)
1994
33
Stickler Syndrome (20301479)
1993
34
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. (8406454)
1993
35
The arthropathy of hereditary arthroophthalmopathy (Stickler syndrome). (1404165)
1992
36
Variability of Stickler syndrome. (1536174)
1992
37
Procollagen II gene mutation in Stickler syndrome. (1444917)
1992
38
Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene. (1358786)
1992
39
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). (1677770)
1991
40
Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome. (2319589)
1990
41
Amplification of the COL2A1 3' variable region used for segregation analysis in a family with the Stickler syndrome. (1977683)
1990
42
The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagen. (3222200)
1988
43
The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen. (2896625)
1987
44
The Weissenbacher-ZweymA1ller syndrome: possible neonatal expression of the Stickler syndrome. (7064999)
1982
45
The Wagner-Stickler syndrome-a genetic study. (526576)
1979
46
Hereditary arthro-ophthalmopathy (the Stickler syndrome). Report of a kindred with protrusio acetabuli. (880775)
1977
47
The Stickler syndrome (hereditary arthro-ophthalmopathy). (1247001)
1976
48
The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness. (1219119)
1975
49
The Stickler syndrome (hereditary arthroophthalmopathy). (776247)
1975
50
Stickler syndrome. Presenting as a syndrome of cleft palate, myopia and blindness inherited as a dominant trait. (4218495)
1974

Variations for Stickler Syndrome

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Expression for genes affiliated with Stickler Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Stickler Syndrome

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Pathways for genes affiliated with Stickler Syndrome

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51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 54QIAGEN
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Pathways related to Stickler Syndrome according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9COL2A1, COL11A2
29.9COL9A1, COL9A2
39.9COL9A1, COL9A2
4
Show member pathways
9.9COL9A2, COL9A1
5
Show member pathways
Integrin-mediated cell adhesion39
Focal Adhesion39
9.2COL2A1, COL5A2, COL11A1, COL11A2
69.2COL11A2, COL5A2, COL11A1, COL2A1
79.2COL5A2, COL2A1, COL11A1, COL11A2
8
Show member pathways
8.6COL9A1, COL2A1, COL11A1, COL9A2, COL5A2, COL11A2
9
Show member pathways
8.6COL11A2, COL5A2, COL9A1, COL2A1, COL11A1, COL9A2
10
Show member pathways
8.6COL2A1, COL11A1, COL9A2, COL5A2, COL11A2, COL9A1
118.6COL9A2, COL9A1, COL2A1, COL11A1, COL11A2, COL5A2
12
Show member pathways
8.6COL5A2, COL9A2, COL11A1, COL2A1, COL9A1, COL11A2
13
Show member pathways
8.6COL11A2, COL9A2, COL9A1, COL2A1, COL11A1, COL5A2

Compounds for genes affiliated with Stickler Syndrome

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GO Terms for genes affiliated with Stickler Syndrome

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17Gene Ontology
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Cellular components related to Stickler Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type XIGO:0055929.8COL11A1, COL11A2
2collagen type IXGO:0055949.6COL9A2, COL9A1
3endoplasmic reticulum lumenGO:0057888.6COL11A2, COL5A2, COL9A2, COL11A1, COL2A1, COL9A1
4extracellular regionGO:0055768.6COL11A2, COL5A2, COL9A2, COL11A1, COL2A1, COL9A1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:00602910.0COL2A1, COL11A1
2palate developmentGO:0600219.9COL2A1, COL11A2
3tissue homeostasisGO:0018949.8COL2A1, COL9A1
4cartilage condensationGO:0015029.8COL2A1, COL11A1
5sensory perception of soundGO:0076059.6COL11A2, COL2A1, COL11A1
6cartilage developmentGO:0512169.6COL2A1, COL11A2
7inner ear morphogenesisGO:0424729.5HMX3, COL11A1, COL2A1
8skeletal system developmentGO:0015019.4COL9A2, COL5A2, COL11A2, COL2A1
9collagen fibril organizationGO:0301999.4COL2A1, COL11A1, COL5A2, COL11A2
10axon guidanceGO:0074119.4COL9A1, COL5A2, COL9A2, COL2A1
11collagen catabolic processGO:0305748.9COL9A2, COL5A2, COL11A2, COL2A1, COL9A1, COL11A1
12extracellular matrix disassemblyGO:0226178.8COL5A2, COL9A2, COL11A1, COL2A1, COL9A1, COL11A2
13extracellular matrix organizationGO:0301988.8COL9A1, COL11A2, COL2A1, COL11A1, COL9A2, COL5A2

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.8COL5A2, COL11A1
2protein binding, bridgingGO:0306749.6COL11A2, COL11A1
3extracellular matrix structural constituent conferring tensile strengthGO:0300209.3COL9A1, COL2A1, COL9A2, COL11A2
4metal ion bindingGO:0468728.8COL11A2, COL5A2, COL11A1, COL2A1, COL9A1

Products for genes affiliated with Stickler Syndrome

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Sources for Stickler Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet