MCID: STC001
MIFTS: 43

Stickler Syndrome malady

Summaries for Stickler Syndrome

Sources:
43NIH Rare Diseases, 34MedlinePlus, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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MedlinePlus:34 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 marshall syndrome 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 t cells, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

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

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.

Wikipedia:64 Stickler syndrome (hereditary progressive arthro-ophthalmopathy) is a group of genetic disorders... more...

Description from OMIM:47 604841,108300,184840

GeneReviews summary for stickler

Aliases & Classifications for Stickler Syndrome

Sources:
8Disease Ontology, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 34MedlinePlus, 47OMIM
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Aliases & Descriptions:

stickler syndrome 8 64 19 43 20 22 21 10
cleft lip and palate 64 22 34
hereditary arthro-ophthalmopathy 64 21
hereditary arthro-ophthalmo-dystrophy 21
arthro-ophthalmopathy 19
stickler dysplasia 21


External Ids:

Disease Ontology8 DOID:0080046

Related Diseases for Stickler Syndrome

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 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 217)
idRelated DiseaseScoreTop Affiliating Genes
1marshall syndrome30.4COL11A1
2cleft palate30.3COL11A1, MSX1, COL11A2, COL2A1
3short stature30.2COL2A1
4diastrophic dysplasia30.2COL2A1, COL9A2
5osteochondritis dissecans30.2COL9A1, COL9A2
6osteoarthritis30.2COL2A1, COL11A2, COL9A1, COL9A2
7stickler syndrome col2a110.8
8stickler syndrome type 110.7
9stickler syndrome, type 310.6
10stickler syndrome, type 210.6
11ectodermal dysplasia10.6
12mental retardation10.5
13cleft hard palate10.5
14stickler syndrome, type v10.5
15syndactyly10.5
16aicardi syndrome10.5
17holoprosencephaly10.5
18uveal coloboma - cleft lip and palate - intellectual deficit10.5
19n syndrome10.5
20wagner syndrome10.5
21gingival recession10.4
22anencephaly10.4
23cleft palate, isolated10.4
24cleft soft palate10.4
25blepharo-cheilo-odontic syndrome10.4
26tooth agenesis10.3
27panhypopituitarism10.3
28fibrous dysplasia10.3
29corpus callosum agenesis10.3
30wells syndrome10.3
31cleft lip and palate malrotation cardiopathy10.3
32pilotto syndrome10.3
33michels syndrome10.3
34fetal hydantoin syndrome10.3
35ectrodactyly cleft palate syndrome10.3
36meningoencephalocele10.3
37iniencephaly10.3
38single median maxillary central incisor10.3
39popliteal pterygium syndrome 2, lethal type10.3
40alobar holoprosencephaly10.3
41char syndrome10.3
42adult syndrome10.2
43stickler syndrome, type iv10.2
44suarez-stickler syndrome10.2
45aarskog-scott syndrome10.2
46pearson syndrome10.2
47hajdu-cheney syndrome10.2
48rothmund-thomson syndrome10.2
49olivopontocerebellar atrophy10.2
50craniofrontonasal syndrome10.2

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



Diseases related to stickler syndrome

Clinical Features for Stickler Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

604841,108300,184840

Drugs & Therapeutics for Stickler Syndrome

Sources:
5CenterWatch, 42NIH 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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Stickler Syndrome:

33
T cells

Animal Models for Stickler Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Stickler Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.3COL9A1, MSX1, COL11A1, COL2A1
2MP:00053778.5COL11A1, COL2A1, COL11A2, COL9A1, HMX3, MSX1
3MP:00053908.4MSX1, COL11A1, COL2A1, COL11A2, COL9A1, COL5A2

Publications for Stickler Syndrome

Sources:
51PubMed
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Articles related to Stickler Syndrome:

(show top 50)    (show all 155)
idTitleAuthorsYear
1
Stickler syndrome associated with congenital glaucoma. (23374481)
2013
2
Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome. (23992033)
2013
3
Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes. (23592912)
2013
4
Importance of early diagnosis of Stickler syndrome in newborns. (22424767)
2012
5
Mosaicism in Stickler syndrome. (22522174)
2012
6
Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation. (21777803)
2011
7
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. (21421862)
2011
8
Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome. (20462780)
2011
9
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. (20513134)
2010
10
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
11
Analysis of the vitreous membrane in a case of type 1 Stickler syndrome. (19089441)
2009
12
Osteochondritis dissecans and Osgood Schlatter disease in a family with Stickler syndrome. (19193224)
2009
13
Retrospective review of Stickler syndrome patients with cleft palate 1997-2004. (18844904)
2008
14
The Stickler syndrome. A genetic disease with clinical implications for the plastic surgeon. (18458010)
2008
15
Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. (17721977)
2008
16
Retinal detachment and prophylaxis in type 1 Stickler syndrome. (17675240)
2008
17
Stickler syndrome. (18762080)
2008
18
A novel mutation in intron 11 of the COL2A1 gene in a patient with type 1 Stickler syndrome. (16395149)
2006
19
High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. (16752401)
2006
20
Type 1 Stickler syndrome: a histological and ultrastructural study of an untreated globe. (16327798)
2006
21
Immunoglobulin deficiency in Stickler syndrome. (17103448)
2006
22
Spontaneous involution of autologous lenses and phacoanaphylaxis reaction in Stickler syndrome. (16234470)
2005
23
Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. (12686304)
2003
24
What all nurses need to know about Stickler syndrome. (12715553)
2003
25
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
26
Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome. (12150217)
2002
27
The hip in Stickler syndrome. (11521037)
2001
28
Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey. (11388760)
2001
29
Thoracolumbar spinal abnormalities in Stickler syndrome. (11224888)
2001
30
Hereditary arthro-ophthalmopathy (Stickler syndrome). (11127688)
2000
31
The Stickler syndrome: case reports and literature review. (10970261)
2000
32
COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. (10729292)
2000
33
Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity. (10573014)
1999
34
Stickler syndrome. (9345813)
1997
35
A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha- 1(XI) collagen. (8872475)
1996
36
Hereditary arthro-ophthalmopathy (Stickler syndrome): a diagnosis to consider in familial premature osteoarthritis. (8000751)
1994
37
Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1. (7867814)
1994
38
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
39
Stickler syndrome: report of four cases. (8267375)
1993
40
Osteochondritis dissecans of the knee in an adult with Stickler syndrome. (8474775)
1993
41
Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene. (1358786)
1992
42
Genetic and clinical heterogeneity of Stickler syndrome. (1683158)
1991
43
Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome. (2319589)
1990
44
Stickler syndrome: a cephalometric study of the face. (6874893)
1983
45
The Stickler syndrome (hereditary arthro-ophthalmopathy). (1247001)
1976
46
The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness. (1219119)
1975
47
Stickler syndrome. Report of a second Australian family. (1233443)
1975
48
The Stickler syndrome. (1201341)
1975
49
Stickler syndrome in a pedigree of Pierre Robin syndrome. (4198747)
1973
50
The Stickler syndrome. (4621768)
1972

Genetic Variations for Stickler Syndrome

Expression for genes affiliated with Stickler Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG, 52QIAGEN
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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
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9.4COL11A2, COL11A1, COL2A1, COL9A1
3
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9.3COL5A2, COL2A1, COL9A1, COL9A2
4
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9.3COL5A2, COL9A1, COL2A1, COL9A2
5
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9.3COL5A2, COL9A2, COL9A1, COL2A1
69.3COL5A2, COL2A1, COL11A1, COL11A2
79.3COL5A2, COL11A2, COL2A1, COL11A1
8
Hide members
9.3COL5A2, COL11A2, COL2A1, COL11A1
9
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8.8COL9A2, COL9A1, COL2A1, COL11A2, COL5A2, COL11A1
10
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8.8COL11A1, COL9A2, COL5A2, COL11A2, COL9A1, COL2A1
118.8COL9A2, COL2A1, COL5A2, COL9A1, COL11A2, COL11A1
12
Hide members
8.8COL2A1, COL11A1, COL11A2, COL9A2, COL5A2, COL9A1
13
Hide members
8.8COL9A1, COL11A1, COL2A1, COL11A2, COL5A2, COL9A2
14
Hide members
8.8COL9A1, COL5A2, COL9A2, COL2A1, COL11A1, COL11A2

Compounds for genes affiliated with Stickler Syndrome

GO Terms for genes affiliated with Stickler Syndrome

Sources:
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

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