MCID: STC001
MIFTS: 51

Stickler Syndrome malady

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

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MedlinePlus:33 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 based summary: Stickler Syndrome, also known as hereditary arthro-ophthalmopathy, is related to retinal detachment and marshall syndrome. 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:21 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: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

Wikipedia:65 Stickler syndrome (hereditary progressive arthro-ophthalmopathy) is a group of genetic disorders... more...

Descriptions from OMIM:46 184840,604841,108300

GeneReviews summary for stickler

Aliases & Classifications for Stickler Syndrome

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Stickler Syndrome, Aliases & Descriptions:

Name: Stickler Syndrome 8 65 19 42 20 22 21 10 62
Hereditary Arthro-Ophthalmopathy 65 21 62
Cleft Lip and Palate 65 22 33
 
Hereditary Arthro-Ophthalmo-Dystrophy 21 62
Arthro-Ophthalmopathy 19 62
Stickler Dysplasia 21 62


Classifications:



External Ids:

Disease Ontology8 DOID:0080046

Related Diseases for Stickler Syndrome

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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 231)
idRelated DiseaseScoreTop Affiliating Genes
1retinal detachment31.0COL2A1, COL11A1
2marshall syndrome31.0COL11A1
3cleft palate30.8COL2A1, COL11A1, COL11A2
4osteochondritis dissecans30.6COL9A1, COL9A2
5diastrophic dysplasia30.6COL2A1, COL9A2
6osteoarthritis30.4COL9A2, COL2A1, COL9A1, COL11A2
7ehlers-danlos syndrome30.3COL2A1, COL5A2
8cleft lip11.5
9stickler syndrome type 110.8
10stickler syndrome, type 210.7
11stickler syndrome, type 310.7
12ectodermal dysplasia10.6
13holoprosencephaly10.6
14mental retardation10.6
15retinitis10.6
16aicardi syndrome10.5
17syndactyly10.5
18gingivitis10.5
19fibrochondrogenesis10.5COL11A1
20anencephaly10.5
21gingival recession10.5
22orofacial cleft10.5
23otitis media10.5
24van der woude syndrome10.5
25blepharo-cheilo-odontic syndrome10.5
26pharyngitis10.4
27nevoid basal cell carcinoma syndrome10.4
28hypertelorism, microtia, facial clefting syndrome10.4
29panhypopituitarism10.4
30tooth agenesis10.4
31fibrous dysplasia10.4
32nasopharyngitis10.4
33cervicitis10.4
34cleft lip and palate malrotation cardiopathy10.4
35fetal hydantoin syndrome10.4
36iniencephaly10.4
37malpuech facial clefting syndrome10.4
38meningoencephalocele10.4
39michels syndrome10.4
40pilotto syndrome10.4
41cleft lip +/- cleft palate10.4
42coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation10.4
43popliteal pterygium syndrome 2, lethal type10.4
44alobar holoprosencephaly10.4
45otospondylomegaepiphyseal dysplasia10.4COL11A2, COL2A1
46stickler syndrome col2a110.4
47weissenbacher-zweym√ľller syndrome10.3COL2A1, COL11A2
48degenerative disc disease10.3COL9A2
49vitreous syneresis10.3COL2A1, COL11A1
50multiple epiphyseal dysplasia10.3COL9A2, COL9A1

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



Diseases related to stickler syndrome

Symptoms for Stickler Syndrome

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Clinical features from OMIM:

184840,604841,108300

Drugs & Therapeutics for Stickler Syndrome

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Drug clinical trials:

Search ClinicalTrials for Stickler Syndrome

Search NIH Clinical Center for Stickler Syndrome

Genetic Tests for Stickler Syndrome

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Genetic tests related to Stickler Syndrome:

id Genetic test Affiliating Genes
1 Stickler Syndrome20 22 COL9A2
2 Cleft Lip/palate22

Anatomical Context for Stickler Syndrome

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MalaCards organs/tissues related to Stickler Syndrome:

32
Eye, Bone

Animal Models for Stickler Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Stickler Syndrome:

36
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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Articles related to Stickler Syndrome:

(show top 50)    (show all 147)
idTitleAuthorsYear
1
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. (25240749)
2014
2
Stickler syndrome type 1 accompanied by membranous vitreous anomaly in two Japanese sisters. (24164106)
2014
3
Stickler syndrome associated with congenital glaucoma. (23374481)
2013
4
Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation. (21777803)
2011
5
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
6
Evidence of reduced bone turnover and disturbed mineralization process in a boy with Stickler syndrome. (20012270)
2010
7
Adult presentation of Stickler syndrome type III. (20112039)
2010
8
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
9
Analysis of the vitreous membrane in a case of type 1 Stickler syndrome. (19089441)
2009
10
Retrospective review of Stickler syndrome patients with cleft palate 1997-2004. (18844904)
2008
11
Surgical difficulties for Total Knee Replacement in Stickler syndrome: A case report. (18816376)
2008
12
Visual complications of Stickler syndrome in paediatric patients with Robin sequence. (17442580)
2007
13
Outcomes of surgery for retinal detachment in patients with Stickler syndrome: a comparison of two sequential 20-year cohorts. (17579881)
2007
14
Orthodontic treatment of a patient with Stickler syndrome. (17902239)
2007
15
Difficulties in anesthetic management of patients with micrognathia: report of a patient with Stickler syndrome. (17138163)
2006
16
A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome. (15372529)
2004
17
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
18
Synovial osteochondromatosis in hereditary arthro-ophthalmopathy (Wagner-Stickler syndrome). (12719932)
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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Expression patterns in normal tissues for genes affiliated with Stickler Syndrome

Search GEO for disease gene expression data for Stickler Syndrome.

Pathways for genes affiliated with Stickler Syndrome

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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 adhesion37
Focal Adhesion37
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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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:0018949.8COL9A1, COL2A1
4cartilage condensationGO:0015029.8COL2A1, COL11A1
5sensory perception of soundGO:0076059.6COL11A2, COL11A1, COL2A1
6cartilage developmentGO:0512169.6COL2A1, COL11A2
7inner ear morphogenesisGO:0424729.5HMX3, COL2A1, COL11A1
8skeletal system developmentGO:0015019.4COL11A2, COL5A2, COL9A2, COL2A1
9collagen fibril organizationGO:0301999.4COL2A1, COL11A1, COL5A2, COL11A2
10axon guidanceGO:0074119.4COL5A2, COL9A2, COL2A1, COL9A1
11collagen catabolic processGO:0305748.9COL9A1, COL2A1, COL11A1, COL9A2, COL5A2, COL11A2
12extracellular matrix disassemblyGO:0226178.8COL11A2, COL5A2, COL9A2, COL11A1, COL2A1, COL9A1
13extracellular matrix organizationGO:0301988.8COL11A2, COL5A2, COL9A2, COL11A1, COL2A1, COL9A1

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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29KEGG
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