MCID: STC007
MIFTS: 16

Stickler Syndrome, Type 3

Categories: Rare diseases, Genetic diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Stickler Syndrome, Type 3

MalaCards integrated aliases for Stickler Syndrome, Type 3:

Name: Stickler Syndrome, Type 3 53 29 6 73
Stickler Syndrome Nonocular Type 53
Stl3 53

Classifications:



External Ids:

UMLS 73 C1861481

Summaries for Stickler Syndrome, Type 3

NIH Rare Diseases : 53 Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The symptoms of Stickler syndrome may vary but include near-sightedness (myopia), retinal detachment, underdevelopment of the middle of the face, and the development of arthritis at a young age. Stickler syndrome is caused by genetic changes (mutations or pathogenic variants) in one of six genes: COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, or COL9A3. The syndrome can be inherited in an autosomal dominant or autosomal recessive manner. Stickler syndrome can be diagnosed when a doctor observes many symptoms consistent with the syndrome. Genetic testing can be used to confirm the diagnosis. Treatment for Stickler syndrome may include surgeries, medications to reduce joint pain, and hearing aids. Stickler syndrome can be divided into subtypes based on the pathogenic variant that is causing the syndrome. You can view more information about some of these subtypes by clicking on the links below: Stickler syndrome type 1 Stickler syndrome type 2 Stickler syndrome type 3

MalaCards based summary : Stickler Syndrome, Type 3, also known as stickler syndrome nonocular type, is related to otospondylomegaepiphyseal dysplasia, autosomal dominant and stickler syndrome, type i, and has symptoms including arthralgia An important gene associated with Stickler Syndrome, Type 3 is COL11A2 (Collagen Type XI Alpha 2 Chain). Affiliated tissues include testes and eye.

Related Diseases for Stickler Syndrome, Type 3

Diseases in the Stickler Syndrome family:

Stickler Syndrome, Type I Stickler Syndrome, Type Ii
Stickler Syndrome, Type Iv Stickler Syndrome, Type V
Stickler Syndrome, Type 3 Autosomal Recessive Stickler Syndrome

Diseases related to Stickler Syndrome, Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 otospondylomegaepiphyseal dysplasia, autosomal dominant 11.2
2 stickler syndrome, type i 11.0
3 stickler syndrome, type ii 11.0
4 stickler syndrome 11.0

Symptoms & Phenotypes for Stickler Syndrome, Type 3

UMLS symptoms related to Stickler Syndrome, Type 3:


arthralgia

Drugs & Therapeutics for Stickler Syndrome, Type 3

Search Clinical Trials , NIH Clinical Center for Stickler Syndrome, Type 3

Genetic Tests for Stickler Syndrome, Type 3

Genetic tests related to Stickler Syndrome, Type 3:

# Genetic test Affiliating Genes
1 Stickler Syndrome, Type 3 29 COL11A2

Anatomical Context for Stickler Syndrome, Type 3

MalaCards organs/tissues related to Stickler Syndrome, Type 3:

41
Testes, Eye

Publications for Stickler Syndrome, Type 3

Variations for Stickler Syndrome, Type 3

ClinVar genetic disease variations for Stickler Syndrome, Type 3:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL11A2 NM_080680.2(COL11A2): c.4392+1G> A single nucleotide variant Pathogenic rs750995470 GRCh37 Chromosome 6, 33134289: 33134289
2 COL11A2 NM_080680.2(COL11A2): c.4392+1G> A single nucleotide variant Pathogenic rs750995470 GRCh38 Chromosome 6, 33166512: 33166512
3 COL11A2 NM_080680.2(COL11A2): c.2822_2848del27 (p.Glu941_Pro950delinsAla) deletion Pathogenic rs864309477 GRCh38 Chromosome 6, 33172580: 33172606
4 COL11A2 NM_080680.2(COL11A2): c.2822_2848del27 (p.Glu941_Pro950delinsAla) deletion Pathogenic rs864309477 GRCh37 Chromosome 6, 33140357: 33140383
5 COL11A2 NM_080680.2(COL11A2): c.4322G> A (p.Gly1441Glu) single nucleotide variant Pathogenic rs121912946 GRCh37 Chromosome 6, 33134513: 33134513
6 COL11A2 NM_080680.2(COL11A2): c.4322G> A (p.Gly1441Glu) single nucleotide variant Pathogenic rs121912946 GRCh38 Chromosome 6, 33166736: 33166736
7 COL11A2 NM_080680.2(COL11A2): c.4135C> T (p.Arg1379Ter) single nucleotide variant Pathogenic rs121912950 GRCh37 Chromosome 6, 33135082: 33135082
8 COL11A2 NM_080680.2(COL11A2): c.4135C> T (p.Arg1379Ter) single nucleotide variant Pathogenic rs121912950 GRCh38 Chromosome 6, 33167305: 33167305
9 COL11A2 NM_080680.2(COL11A2): c.2081_2085delGGAAGinsA (p.Gly694Glufs) indel Pathogenic rs886044584 GRCh37 Chromosome 6, 33144528: 33144532
10 COL11A2 NM_080680.2(COL11A2): c.2081_2085delGGAAGinsA (p.Gly694Glufs) indel Pathogenic rs886044584 GRCh38 Chromosome 6, 33176751: 33176755
11 COL11A2 NM_080680.2(COL11A2): c.1719+3delGinsGG indel Likely pathogenic GRCh37 Chromosome 6, 33146453: 33146453
12 COL11A2 NM_080680.2(COL11A2): c.1719+3delGinsGG indel Likely pathogenic GRCh38 Chromosome 6, 33178676: 33178676
13 COL11A2 NM_080680.2(COL11A2): c.966delCinsCC (p.Thr323Hisfs) indel Pathogenic GRCh37 Chromosome 6, 33152075: 33152075
14 COL11A2 NM_080680.2(COL11A2): c.966delCinsCC (p.Thr323Hisfs) indel Pathogenic GRCh38 Chromosome 6, 33184298: 33184298
15 COL11A2 NM_080680.2(COL11A2): c.1370G> A (p.Gly457Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 33147572: 33147572
16 COL11A2 NM_080680.2(COL11A2): c.1370G> A (p.Gly457Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 33179795: 33179795

Expression for Stickler Syndrome, Type 3

Search GEO for disease gene expression data for Stickler Syndrome, Type 3.

Pathways for Stickler Syndrome, Type 3

GO Terms for Stickler Syndrome, Type 3

Sources for Stickler Syndrome, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....