MCID: STC017
MIFTS: 23

Stickler Syndrome, Type I, Nonsyndromic Ocular

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Stickler Syndrome, Type I, Nonsyndromic Ocular

MalaCards integrated aliases for Stickler Syndrome, Type I, Nonsyndromic Ocular:

Name: Stickler Syndrome, Type I, Nonsyndromic Ocular 57 29 6
Stickler Sydrome, Type I, Nonsyndromic Ocular 57 13 40
Rhegmatogenous Retinal Detachment, Autosomal Dominant 6 73
Autosomal Dominant Rhegmatogenous Retinal Detachment 59
Rhegmatogenous Retinal Detachment Autosomal Dominant 75
Stickler Syndrome, Type I, Predominantly Ocular 57
Stickler Syndrome 1 Non-Syndromic Ocular 75
1-Naphthaleneacetic Acid, Ammonium Salt 44
Stickler Syndrome Predominantly Ocular 75
Stickler Syndrome, Atypical 57
Stickler Syndrome Atypical 75
Wagner Syndrome 2 75
Stl1o 75
Drrd 75

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant rhegmatogenous retinal detachment
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
the systemic features typically seen in stl1 are not present


HPO:

32
stickler syndrome, type i, nonsyndromic ocular:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 609508
Orphanet 59 ORPHA209867
ICD10 via Orphanet 34 H33.0
UMLS via Orphanet 74 C1836081
SNOMED-CT via HPO 69 263681008 57190000 19620000
UMLS 73 C1836081

Summaries for Stickler Syndrome, Type I, Nonsyndromic Ocular

UniProtKB/Swiss-Prot : 75 Rhegmatogenous retinal detachment autosomal dominant: A eye disease that most frequently results from a break or tear in the retina that allows fluid from the vitreous humor to enter the potential space beneath the retina. It is often associated with pathologic myopia and in most cases leads to visual impairment or blindness if untreated. Stickler syndrome 1 non-syndromic ocular: An autosomal dominant form of Stickler syndrome characterized by the ocular signs typically seen in Stickler syndrome type 1 such as cataract, myopia, retinal detachment. Systemic features of premature osteoarthritis, cleft palate, hearing impairment, and craniofacial abnormalities are either absent or very mild.

MalaCards based summary : Stickler Syndrome, Type I, Nonsyndromic Ocular, also known as stickler sydrome, type i, nonsyndromic ocular, is related to retinitis and retinal detachment. An important gene associated with Stickler Syndrome, Type I, Nonsyndromic Ocular is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include retina and eye, and related phenotypes are myopia and abnormal vitreous humor morphology

Description from OMIM: 609508

Related Diseases for Stickler Syndrome, Type I, Nonsyndromic Ocular

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

# Related Disease Score Top Affiliating Genes
1 retinitis 10.2
2 retinal detachment 10.2
3 exudative vitreoretinopathy 10.1

Symptoms & Phenotypes for Stickler Syndrome, Type I, Nonsyndromic Ocular

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
rhegmatogenous retinal detachment
lattice degeneration of the retina


Clinical features from OMIM:

609508

Human phenotypes related to Stickler Syndrome, Type I, Nonsyndromic Ocular:

32
# Description HPO Frequency HPO Source Accession
1 myopia 32 HP:0000545
2 abnormal vitreous humor morphology 32 HP:0004327
3 rhegmatogenous retinal detachment 32 HP:0012230

Drugs & Therapeutics for Stickler Syndrome, Type I, Nonsyndromic Ocular

Search Clinical Trials , NIH Clinical Center for Stickler Syndrome, Type I, Nonsyndromic Ocular

Cochrane evidence based reviews: 1-naphthaleneacetic acid, ammonium salt

Genetic Tests for Stickler Syndrome, Type I, Nonsyndromic Ocular

Genetic tests related to Stickler Syndrome, Type I, Nonsyndromic Ocular:

# Genetic test Affiliating Genes
1 Stickler Syndrome, Type I, Nonsyndromic Ocular 29 COL2A1

Anatomical Context for Stickler Syndrome, Type I, Nonsyndromic Ocular

MalaCards organs/tissues related to Stickler Syndrome, Type I, Nonsyndromic Ocular:

41
Retina, Eye

Publications for Stickler Syndrome, Type I, Nonsyndromic Ocular

Articles related to Stickler Syndrome, Type I, Nonsyndromic Ocular:

# Title Authors Year
1
Autosomal dominant rhegmatogenous retinal detachment--clinical appearance and surgical outcome. ( 15064954 )
2004
2
Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. ( 12939326 )
2003

Variations for Stickler Syndrome, Type I, Nonsyndromic Ocular

UniProtKB/Swiss-Prot genetic disease variations for Stickler Syndrome, Type I, Nonsyndromic Ocular:

75
# Symbol AA change Variation ID SNP ID
1 COL2A1 p.Gly267Asp VAR_001738 rs121912872
2 COL2A1 p.Gly318Arg VAR_023925 rs121912894
3 COL2A1 p.Leu667Phe VAR_023928 rs121912885
4 COL2A1 p.Cys57Tyr VAR_063891 rs121912898

ClinVar genetic disease variations for Stickler Syndrome, Type I, Nonsyndromic Ocular:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.800G> A (p.Gly267Asp) single nucleotide variant Pathogenic rs121912872 GRCh37 Chromosome 12, 48388223: 48388223
2 COL2A1 NM_001844.4(COL2A1): c.800G> A (p.Gly267Asp) single nucleotide variant Pathogenic rs121912872 GRCh38 Chromosome 12, 47994440: 47994440
3 COL2A1 NM_001844.4(COL2A1): c.1999C> T (p.Leu667Phe) single nucleotide variant Pathogenic rs121912885 GRCh37 Chromosome 12, 48377218: 48377218
4 COL2A1 NM_001844.4(COL2A1): c.1999C> T (p.Leu667Phe) single nucleotide variant Pathogenic rs121912885 GRCh38 Chromosome 12, 47983435: 47983435
5 COL2A1 COL2A1, 2-BP DEL, 4274GT deletion Pathogenic
6 COL2A1 NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter) single nucleotide variant Pathogenic rs121912893 GRCh37 Chromosome 12, 48377504: 48377504
7 COL2A1 NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter) single nucleotide variant Pathogenic rs121912893 GRCh38 Chromosome 12, 47983721: 47983721
8 COL2A1 NM_001844.4(COL2A1): c.952G> A (p.Gly318Arg) single nucleotide variant Pathogenic rs121912894 GRCh37 Chromosome 12, 48387258: 48387258
9 COL2A1 NM_001844.4(COL2A1): c.952G> A (p.Gly318Arg) single nucleotide variant Pathogenic rs121912894 GRCh38 Chromosome 12, 47993475: 47993475
10 COL2A1 COL2A1, IVS51DS, T-C, +2 single nucleotide variant Pathogenic
11 COL2A1 NM_001844.4(COL2A1): c.141G> A (p.Trp47Ter) single nucleotide variant Pathogenic rs121912896 GRCh37 Chromosome 12, 48393853: 48393853
12 COL2A1 NM_001844.4(COL2A1): c.141G> A (p.Trp47Ter) single nucleotide variant Pathogenic rs121912896 GRCh38 Chromosome 12, 48000070: 48000070
13 COL2A1 NM_001844.4(COL2A1): c.192C> A (p.Cys64Ter) single nucleotide variant Pathogenic rs121912897 GRCh37 Chromosome 12, 48393802: 48393802
14 COL2A1 NM_001844.4(COL2A1): c.192C> A (p.Cys64Ter) single nucleotide variant Pathogenic rs121912897 GRCh38 Chromosome 12, 48000019: 48000019
15 COL2A1 NM_001844.4(COL2A1): c.170G> A (p.Cys57Tyr) single nucleotide variant Pathogenic rs121912898 GRCh37 Chromosome 12, 48393824: 48393824
16 COL2A1 NM_001844.4(COL2A1): c.170G> A (p.Cys57Tyr) single nucleotide variant Pathogenic rs121912898 GRCh38 Chromosome 12, 48000041: 48000041
17 COL2A1 NM_001844.4(COL2A1): c.1924G> T (p.Gly642Ter) single nucleotide variant Pathogenic rs794727472 GRCh37 Chromosome 12, 48377887: 48377887
18 COL2A1 NM_001844.4(COL2A1): c.1924G> T (p.Gly642Ter) single nucleotide variant Pathogenic rs794727472 GRCh38 Chromosome 12, 47984104: 47984104

Expression for Stickler Syndrome, Type I, Nonsyndromic Ocular

Search GEO for disease gene expression data for Stickler Syndrome, Type I, Nonsyndromic Ocular.

Pathways for Stickler Syndrome, Type I, Nonsyndromic Ocular

GO Terms for Stickler Syndrome, Type I, Nonsyndromic Ocular

Sources for Stickler Syndrome, Type I, Nonsyndromic Ocular

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....