MCID: STC001
MIFTS: 44

Stickler Syndrome malady

Summaries for Stickler Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: 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 Non-integrin membrane-ECM interactions. Affiliated tissues include eye and bone, and related mouse phenotypes are limbs/digits/tail 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 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:63 Stickler syndrome (hereditary progressive arthro-ophthalmopathy) is a group of genetic disorders... more...

Description from OMIM:46 604841,108300,184840

GeneReviews summary for stickler

Aliases & Classifications for Stickler Syndrome

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8Disease Ontology, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 33MedlinePlus, 46OMIM
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Aliases & Descriptions:

stickler syndrome 8 63 19 42 20 22 21 10
cleft lip and palate 63 22 33
hereditary arthro-ophthalmopathy 63 21
hereditary arthro-ophthalmo-dystrophy 21
arthro-ophthalmopathy 19
stickler dysplasia 21


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Disease Ontology8 DOID:0080046

Related Diseases for Stickler Syndrome

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

(show top 50)    (show all 202)
idRelated DiseaseScoreTop Affiliating Genes
1retinal detachment30.6COL2A1, COL11A1
2cleft palate30.3COL11A1, COL2A1, COL11A2, MSX1
3diastrophic dysplasia30.2COL9A2, COL2A1
4marshall syndrome30.2COL11A1
5osteochondritis dissecans30.2COL9A1, COL9A2
6osteoarthritis30.2COL2A1, COL11A2, COL9A1, COL9A2
7cleft lip11.5
8stickler syndrome col2a110.8
9stickler syndrome type 110.7
10stickler syndrome, type 310.6
11stickler syndrome, type 210.6
12retinitis10.5
13syndactyly10.5
14aicardi syndrome10.5
15holoprosencephaly10.5
16gingivitis10.5
17uveal coloboma - cleft lip and palate - intellectual deficit10.5
18gingival recession10.4
19otitis media10.4
20blepharo-cheilo-odontic syndrome10.4
21tooth agenesis10.3
22panhypopituitarism10.3
23pharyngitis10.3
24nasopharyngitis10.3
25fibrous dysplasia10.3
26cervicitis10.3
27lip cancer10.3
28orofacial cleft10.3
29cleft lip and palate malrotation cardiopathy10.3
30pilotto syndrome10.3
31michels syndrome10.3
32fetal hydantoin syndrome10.3
33iniencephaly10.3
34single median maxillary central incisor10.3
35popliteal pterygium syndrome 2, lethal type10.3
36adult syndrome10.2
37stickler syndrome, type iv10.2
38suarez-stickler syndrome10.2
39aarskog-scott syndrome10.2
40pearson syndrome10.2
41hajdu-cheney syndrome10.2
42rothmund-thomson syndrome10.2
43olivopontocerebellar atrophy10.2
44craniofrontonasal syndrome10.2
45ladd syndrome10.2
46congenital hypothyroidism10.2
47digeorge syndrome10.2
48wolf-hirschhorn syndrome10.2
49lissencephaly10.2
50gastroschisis10.2

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



Diseases related to stickler syndrome

Clinical Features for Stickler Syndrome

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46OMIM
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Clinical features from OMIM:

604841,108300,184840

Drugs & Therapeutics for Stickler Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests, 22GTR
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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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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Stickler Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.3MSX1, COL9A1, COL2A1, COL11A1
2MP:00053778.5MSX1, HMX3, COL9A1, COL11A2, COL2A1, COL11A1
3MP:00053908.4COL11A1, COL2A1, COL11A2, COL9A1, COL5A2, MSX1

Publications for Stickler Syndrome

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50PubMed
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Articles related to Stickler Syndrome:

(show top 50)    (show all 152)
idTitleAuthorsYear
1
Stickler syndrome associated with congenital glaucoma. (23374481)
2013
2
Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA). (23621912)
2013
3
Bifid uvula and familial Stickler syndrome diagnosed prenatally before the sonographic "equals sign" landmark. (23771187)
2013
4
Radiographic and tomographic analysis in patients with stickler syndrome type I. (23935403)
2013
5
COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome. (23918474)
2013
6
Hearing impairment in Stickler syndrome: a systematic review. (23110709)
2012
7
Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation. (21777803)
2011
8
Stickler syndrome: an underdiagnosed disease. Report of a family. (22003765)
2011
9
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. (21921955)
2011
10
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. (20513134)
2010
11
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. (20179744)
2010
12
Stickler syndrome in Pierre-Robin sequence prenatal ultrasonographic diagnosis and postnatal therapy: two cases report. (21375138)
2010
13
Analysis of the vitreous membrane in a case of type 1 Stickler syndrome. (19089441)
2009
14
Bilateral total hip arthroplasty in siblings with Stickler Syndrome. (19197843)
2007
15
Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms. (17437277)
2007
16
Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity. (17318849)
2007
17
A novel mutation in intron 11 of the COL2A1 gene in a patient with type 1 Stickler syndrome. (16395149)
2006
18
Stickler syndrome type I and Stapes ankylosis. (15533574)
2004
19
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
20
Synovial osteochondromatosis in hereditary arthro-ophthalmopathy (Wagner-Stickler syndrome). (12719932)
2003
21
Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene. (12511349)
2003
22
Vitreous phenotype: genotype correlation in Stickler syndrome. (11954783)
2002
23
Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome. (12150217)
2002
24
The diagnosis and consequences of Stickler syndrome. (11883970)
2002
25
The hip in Stickler syndrome. (11521037)
2001
26
Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability. (10706362)
2000
27
The Stickler syndrome: case reports and literature review. (10970261)
2000
28
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
29
Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling. (10819645)
2000
30
Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons. (10982970)
2000
31
Hearing loss in the nonocular Stickler syndrome caused by a COL11A2 mutation. (10718438)
2000
32
Clinical and Molecular genetics of Stickler syndrome. (10353778)
1999
33
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
34
Correlation of linkage data with phenotype in eight families with Stickler syndrome. (9805127)
1998
35
Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene. (9800905)
1998
36
Retinal capillary hemangioma in Marshall-Stickler syndrome. (9222251)
1997
37
Stickler syndrome type 2 and linkage to the COL11A1 gene. (8702171)
1996
38
Prophylactic laser photocoagulation in Stickler syndrome. (9091366)
1996
39
PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome. (8863161)
1996
40
Masked confirmation of linkage between type 1 congenital vitreous anomaly and COL 2A1 in Stickler syndrome. (8950594)
1996
41
Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene. (7487609)
1995
42
A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. (7833911)
1994
43
Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy). (8317498)
1993
44
A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. (8434604)
1993
45
The arthropathy of hereditary arthroophthalmopathy (Stickler syndrome). (1404165)
1992
46
Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene. (1358786)
1992
47
Intraarticular lipoma in Stickler syndrome. (2352904)
1990
48
Distinctive cataract in the Stickler syndrome. (2378378)
1990
49
The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagen. (3222200)
1988
50
The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen. (2896625)
1987

Genetic Variations for Stickler Syndrome

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Expression for genes affiliated with Stickler Syndrome

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1BioGPS, 15Gene 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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37NCBI BioSystems Database, 53Reactome, 29KEGG, 51QIAGEN
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Pathways related to Stickler Syndrome according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6COL2A1, COL11A2, MSX1
2
Hide members
9.4COL11A1, COL2A1, COL11A2, COL9A1
3
Hide members
9.3COL2A1, COL9A1, COL5A2, COL9A2
4
Hide members
9.3COL9A2, COL5A2, COL9A1, COL2A1
5
Hide members
9.3COL9A2, COL5A2, COL9A1, COL2A1
69.3COL11A1, COL2A1, COL11A2, COL5A2
79.3COL5A2, COL11A2, COL2A1, COL11A1
8
Hide members
9.3COL11A1, COL2A1, COL11A2, COL5A2
9
Hide members
8.8COL9A2, COL5A2, COL9A1, COL11A2, COL2A1, COL11A1
10
Hide members
8.8COL11A1, COL2A1, COL11A2, COL9A1, COL5A2, COL9A2
118.8COL11A1, COL2A1, COL11A2, COL9A1, COL5A2, COL9A2
12
Hide members
8.8COL11A1, COL2A1, COL11A2, COL9A1, COL5A2, COL9A2
13
Hide members
8.8COL11A1, COL2A1, COL11A2, COL9A1, COL5A2, COL9A2
14
Hide members
8.8COL11A1, COL2A1, COL11A2, COL9A1, COL5A2, COL9A2

Compounds for genes affiliated with Stickler Syndrome

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GO Terms for genes affiliated with Stickler Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1collagen type XIGO:0055929.8COL11A2, COL11A1
2collagen type IXGO:0055949.6COL9A1, COL9A2
3endoplasmic reticulum lumenGO:0057888.8COL9A2, COL5A2, COL9A1, COL11A2, COL2A1, COL11A1
4extracellular regionGO:0055768.8COL9A2, COL5A2, COL9A1, COL11A2, COL2A1, COL11A1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1proteoglycan metabolic processGO:00602910.0COL2A1, COL11A1
2cartilage condensationGO:00150210.0COL2A1, COL11A1
3tissue homeostasisGO:0018949.6COL9A1, COL2A1
4inner ear morphogenesisGO:0424729.6COL11A1, COL2A1, HMX3
5sensory perception of soundGO:0076059.6COL11A2, COL2A1, COL11A1
6collagen fibril organizationGO:0301999.5COL11A1, COL2A1, COL11A2, COL5A2
7skeletal system developmentGO:0015019.5COL9A2, COL5A2, COL11A2, COL2A1
8axon guidanceGO:0074119.3COL2A1, COL9A1, COL5A2, COL9A2
9collagen catabolic processGO:0305749.0COL9A2, COL5A2, COL9A1, COL11A2, COL2A1, COL11A1
10extracellular matrix disassemblyGO:0226179.0COL11A1, COL2A1, COL11A2, COL9A1, COL5A2, COL9A2
11extracellular matrix organizationGO:0301989.0COL11A1, COL2A1, COL11A2, COL9A1, COL5A2, COL9A2

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

idNameGO IDScoreTop Affiliating Genes
1protein binding, bridgingGO:0306749.9COL11A2, COL11A1
2extracellular matrix structural constituent conferring tensile strengthGO:0300209.1COL9A2, COL9A1, COL11A2, COL2A1

Products for genes affiliated with Stickler Syndrome

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Sources for Stickler Syndrome

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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