DRRD
MCID: STC017
MIFTS: 26

Stickler Syndrome, Type I, Nonsyndromic Ocular (DRRD)

Categories: Eye diseases, Genetic 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 58 30 6
Stickler Sydrome, Type I, Nonsyndromic Ocular 58 13 41
Rhegmatogenous Retinal Detachment, Autosomal Dominant 6 74
Autosomal Dominant Rhegmatogenous Retinal Detachment 60
Rhegmatogenous Retinal Detachment Autosomal Dominant 76
Stickler Syndrome, Type I, Predominantly Ocular 58
Stickler Syndrome 1 Non-Syndromic Ocular 76
Stickler Syndrome Predominantly Ocular 76
Stickler Syndrome, Atypical 58
Stickler Syndrome Atypical 76
Wagner Syndrome 2 76
Stl1o 76
Drrd 76

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant rhegmatogenous retinal detachment
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
stickler syndrome, type i, nonsyndromic ocular:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

OMIM 58 609508
ICD10 via Orphanet 35 H33.0
UMLS via Orphanet 75 C1836081
Orphanet 60 ORPHA209867
SNOMED-CT via HPO 70 19620000 263681008 57190000
UMLS 74 C1836081

Summaries for Stickler Syndrome, Type I, Nonsyndromic Ocular

UniProtKB/Swiss-Prot : 76 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 retinal detachment and stickler syndrome, type i. An important gene associated with Stickler Syndrome, Type I, Nonsyndromic Ocular is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include eye and retina, and related phenotypes are myopia and rhegmatogenous retinal detachment

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 retinal detachment 10.3
2 stickler syndrome, type i 10.2
3 mediastinal endodermal sinus tumors 10.2
4 epiphyseal dysplasia, multiple, with myopia and conductive deafness 9.7 COL2A1 LOC105369752
5 spondyloperipheral dysplasia 9.7 COL2A1 LOC105369752
6 hypochondrogenesis 9.7 COL2A1 LOC105369752
7 osteoarthritis with mild chondrodysplasia 9.6 COL2A1 LOC105369752
8 achondrogenesis, type ii 9.5 COL2A1 LOC105369752

Graphical network of the top 20 diseases related to Stickler Syndrome, Type I, Nonsyndromic Ocular:



Diseases related to Stickler Syndrome, Type I, Nonsyndromic Ocular

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

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

33
# Description HPO Frequency HPO Source Accession
1 myopia 33 HP:0000545
2 rhegmatogenous retinal detachment 33 HP:0012230
3 abnormal vitreous humor morphology 33 HP:0004327

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
rhegmatogenous retinal detachment
lattice degeneration of the retina

Clinical features from OMIM:

609508

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

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

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 30 COL2A1

Anatomical Context for Stickler Syndrome, Type I, Nonsyndromic Ocular

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

42
Eye, Retina

Publications for Stickler Syndrome, Type I, Nonsyndromic Ocular

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

(show all 12)
# Title Authors Year
1
Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. ( 17721977 )
2008
2
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
3
A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment. ( 15671297 )
2005
4
Autosomal dominant rhegmatogenous retinal detachment--clinical appearance and surgical outcome. ( 15064954 )
2004
5
Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. ( 12939326 )
2003
6
A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. ( 11812423 )
2002
7
Human GC-AG alternative intron isoforms with weak donor sites show enhanced consensus at acceptor exon positions. ( 11410667 )
2001
8
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
9
Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons. ( 10982970 )
2000
10
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
11
[Degeneratio hyaloideo-retinalis hereditaria Wagner (author's transl)]. ( 732195 )
1978
12
WAGNER'S DISEASE. ( 14338642 )
1965

Variations for Stickler Syndrome, Type I, Nonsyndromic Ocular

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

76
# 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 24)
# 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.2965C> T (p.Arg989Cys) single nucleotide variant Pathogenic rs121912874 GRCh37 Chromosome 12, 48372112: 48372112
4 COL2A1 NM_001844.4(COL2A1): c.2965C> T (p.Arg989Cys) single nucleotide variant Pathogenic rs121912874 GRCh38 Chromosome 12, 47978329: 47978329
5 COL2A1 NM_001844.4(COL2A1): c.1999C> T (p.Leu667Phe) single nucleotide variant Pathogenic rs121912885 GRCh37 Chromosome 12, 48377218: 48377218
6 COL2A1 NM_001844.4(COL2A1): c.1999C> T (p.Leu667Phe) single nucleotide variant Pathogenic rs121912885 GRCh38 Chromosome 12, 47983435: 47983435
7 COL2A1 COL2A1, 2-BP DEL, 4274GT deletion Pathogenic
8 COL2A1 NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter) single nucleotide variant Pathogenic rs121912893 GRCh37 Chromosome 12, 48377504: 48377504
9 COL2A1 NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter) single nucleotide variant Pathogenic rs121912893 GRCh38 Chromosome 12, 47983721: 47983721
10 COL2A1 NM_001844.4(COL2A1): c.952G> A (p.Gly318Arg) single nucleotide variant Pathogenic rs121912894 GRCh37 Chromosome 12, 48387258: 48387258
11 COL2A1 NM_001844.4(COL2A1): c.952G> A (p.Gly318Arg) single nucleotide variant Pathogenic rs121912894 GRCh38 Chromosome 12, 47993475: 47993475
12 COL2A1 COL2A1, IVS51DS, T-C, +2 single nucleotide variant Pathogenic
13 COL2A1 NM_001844.4(COL2A1): c.141G> A (p.Trp47Ter) single nucleotide variant Pathogenic rs121912896 GRCh37 Chromosome 12, 48393853: 48393853
14 COL2A1 NM_001844.4(COL2A1): c.141G> A (p.Trp47Ter) single nucleotide variant Pathogenic rs121912896 GRCh38 Chromosome 12, 48000070: 48000070
15 COL2A1 NM_001844.4(COL2A1): c.192C> A (p.Cys64Ter) single nucleotide variant Pathogenic rs121912897 GRCh37 Chromosome 12, 48393802: 48393802
16 COL2A1 NM_001844.4(COL2A1): c.192C> A (p.Cys64Ter) single nucleotide variant Pathogenic rs121912897 GRCh38 Chromosome 12, 48000019: 48000019
17 COL2A1 NM_001844.4(COL2A1): c.170G> A (p.Cys57Tyr) single nucleotide variant Pathogenic rs121912898 GRCh37 Chromosome 12, 48393824: 48393824
18 COL2A1 NM_001844.4(COL2A1): c.170G> A (p.Cys57Tyr) single nucleotide variant Pathogenic rs121912898 GRCh38 Chromosome 12, 48000041: 48000041
19 COL2A1 NM_001844.4(COL2A1): c.258C> A (p.Cys86Ter) single nucleotide variant Pathogenic rs794727261 GRCh37 Chromosome 12, 48393736: 48393736
20 COL2A1 NM_001844.4(COL2A1): c.258C> A (p.Cys86Ter) single nucleotide variant Pathogenic rs794727261 GRCh38 Chromosome 12, 47999953: 47999953
21 COL2A1 NM_001844.4(COL2A1): c.803C> T (p.Pro268Leu) single nucleotide variant Uncertain significance rs142770543 GRCh37 Chromosome 12, 48388220: 48388220
22 COL2A1 NM_001844.4(COL2A1): c.803C> T (p.Pro268Leu) single nucleotide variant Uncertain significance rs142770543 GRCh38 Chromosome 12, 47994437: 47994437
23 COL2A1 NM_001844.4(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 GRCh37 Chromosome 12, 48374344: 48374344
24 COL2A1 NM_001844.4(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 GRCh38 Chromosome 12, 47980561: 47980561

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

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75 UMLS via Orphanet
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