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
Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome. (23992033)
2013
2
Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss. (23922384)
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
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. (21421862)
2011
7
Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome. (20462780)
2011
8
Evidence of reduced bone turnover and disturbed mineralization process in a boy with Stickler syndrome. (20012270)
2010
9
Adult presentation of Stickler syndrome type III. (20112039)
2010
10
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
11
Osteochondritis dissecans and Osgood Schlatter disease in a family with Stickler syndrome. (19193224)
2009
12
Retrospective review of Stickler syndrome patients with cleft palate 1997-2004. (18844904)
2008
13
Surgical difficulties for Total Knee Replacement in Stickler syndrome: A case report. (18816376)
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
Stickler syndrome. (18762080)
2008
17
Visual complications of Stickler syndrome in paediatric patients with Robin sequence. (17442580)
2007
18
Orthodontic treatment of a patient with Stickler syndrome. (17902239)
2007
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
Immunoglobulin deficiency in Stickler syndrome. (17103448)
2006
21
Spontaneous involution of autologous lenses and phacoanaphylaxis reaction in Stickler syndrome. (16234470)
2005
22
A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome. (15372529)
2004
23
Clinical features of type 2 Stickler syndrome. (15286167)
2004
24
Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. (12686304)
2003
25
Prevalence of mitral valve prolapse in Stickler syndrome. (12503098)
2003
26
What all nurses need to know about Stickler syndrome. (12715553)
2003
27
Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family. (12429249)
2002
28
Hearing impairment in Stickler syndrome. (12408087)
2002
29
Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case. (11450497)
2001
30
Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey. (11388760)
2001
31
Thoracolumbar spinal abnormalities in Stickler syndrome. (11224888)
2001
32
Hereditary arthro-ophthalmopathy (Stickler syndrome). (11127688)
2000
33
Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity. (10573014)
1999
34
Stickler syndrome. (9345813)
1997
35
Retinal detachment in identical twins with Stickler syndrome type 1. (8976725)
1996
36
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
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
Variability of Stickler syndrome. (1536174)
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
Amplification of the COL2A1 3' variable region used for segregation analysis in a family with the Stickler syndrome. (1977683)
1990
45
Hereditary arthro-ophthalmopathy (the Stickler syndrome). Report of a kindred with protrusio acetabuli. (880775)
1977
46
The Stickler syndrome (hereditary arthro-ophthalmopathy). (409578)
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. (1201341)
1975
50
The Stickler syndrome. (4621768)
1972

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
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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