DRRD
MCID: STC017
MIFTS: 28

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 57 29 6
Stickler Sydrome, Type I, Nonsyndromic Ocular 57 13 39
Rhegmatogenous Retinal Detachment, Autosomal Dominant 6 70
Autosomal Dominant Rhegmatogenous Retinal Detachment 58
Rhegmatogenous Retinal Detachment Autosomal Dominant 72
Stickler Syndrome, Type I, Predominantly Ocular 57
Stickler Syndrome 1 Non-Syndromic Ocular 72
Stickler Syndrome Predominantly Ocular 72
Stickler Syndrome, Atypical 57
Stickler Syndrome Atypical 72
Wagner Syndrome 2 72
Stl1o 72
Drrd 72

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant rhegmatogenous retinal detachment
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
stickler syndrome, type i, nonsyndromic ocular:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

OMIM® 57 609508
OMIM Phenotypic Series 57 PS108300
ICD10 via Orphanet 33 H33.0
UMLS via Orphanet 71 C1836081
Orphanet 58 ORPHA209867
SNOMED-CT via HPO 68 19620000 263681008 57190000
UMLS 70 C1836081

Summaries for Stickler Syndrome, Type I, Nonsyndromic Ocular

UniProtKB/Swiss-Prot : 72 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 vitreoretinopathy. An important gene associated with Stickler Syndrome, Type I, Nonsyndromic Ocular is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include eye, retina and breast, and related phenotypes are myopia and abnormal vitreous humor morphology

More information from OMIM: 609508 PS108300

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 10.4
2 vitreoretinopathy 10.4
3 stickler syndrome, type i 10.2
4 vitreoretinopathy, neovascular inflammatory 10.2
5 stickler syndrome 10.2
6 myopia 10.2

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:

31
# Description HPO Frequency HPO Source Accession
1 myopia 31 HP:0000545
2 abnormal vitreous humor morphology 31 HP:0004327
3 rhegmatogenous retinal detachment 31 HP:0012230

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
rhegmatogenous retinal detachment
lattice degeneration of the retina

Clinical features from OMIM®:

609508 (Updated 20-May-2021)

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 29 COL2A1

Anatomical Context for Stickler Syndrome, Type I, Nonsyndromic Ocular

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

40
Eye, Retina, Breast

Publications for Stickler Syndrome, Type I, Nonsyndromic Ocular

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

(show all 27)
# Title Authors PMID Year
1
A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment. 6 57 61
15671297 2005
2
Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. 6 57
17721977 2008
3
High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. 6 57
16752401 2006
4
Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. 6 57
12939326 2003
5
A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. 6 57
11812423 2002
6
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) 6 57
8317498 1993
7
WAGNER'S DISEASE. 6 57
14338642 1965
8
Human GC-AG alternative intron isoforms with weak donor sites show enhanced consensus at acceptor exon positions. 6
11410667 2001
9
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. 6
11007540 2000
10
Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons. 6
10982970 2000
11
Prospective study of a diabetes risk reduction diet and the risk of breast cancer. 61
33022701 2020
12
Rats can learn a temporal task in a single session. 61
31783298 2020
13
Impact of decontamination on individual radiation doses from external exposure among residents of Minamisoma City after the 2011 Fukushima Daiichi nuclear power plant incident in Japan: a retrospective observational study. 61
31181542 2019
14
The barley EST DNA Replication and Repair Database (bEST-DRRD) as a tool for the identification of the genes involved in DNA replication and repair. 61
22697361 2012
15
Improvement of antibiotic productivity by knock-out of dauW in Streptomyces coeruleobidus. 61
21242069 2011
16
Regulation of response regulator autophosphorylation through interdomain contacts. 61
20702407 2010
17
Crystal structure of the response regulator 02 receiver domain, the essential YycF two-component system of Streptococcus pneumoniae in both complexed and native states. 61
15090529 2004
18
Structural analysis of the domain interface in DrrB, a response regulator of the OmpR/PhoB subfamily. 61
12837793 2003
19
The crystal structure of the phosphorylation domain in PhoP reveals a functional tandem association mediated by an asymmetric interface. 61
12486062 2003
20
Evidence of intradomain and interdomain flexibility in an OmpR/PhoB homolog from Thermotoga maritima. 61
11839301 2002
21
Temporal differentiation in two strains of small rodents: a wood mouse (Apodemus sylvaticus) and an albino mouse (Mus musculus OF1). 61
11164683 2000
22
Amineptine improves the performance of dogs in a complex temporal regulation schedule. 61
8105491 1993
23
[The acquisition in dogs of temporal regulation by differentiated reinforcement of the response duration using an exteroceptive component and the pharmacological modulation of this reflex (diazepam, clozapine)]. 61
1316018 1992
24
Effects of low doses of neuroleptics on temporal regulation in a differential reinforcement of response duration (DRRD) schedule in the dog. 61
1982690 1990
25
Comparative study of the behavioral, neurophysiological, and motor effects of psychotropic drugs in the dog. 61
1972339 1990
26
Transformation of a waiting schedule into a temporal regulation schedule (DRRD) by addition of external stimuli in the dog. 61
24897187 1988
27
Differential Reinforcement of Response Duration (DRRD) in weanling rats: A comparison with adult subjects. 61
24925662 1987

Variations for Stickler Syndrome, Type I, Nonsyndromic Ocular

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

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL2A1 NM_001844.5(COL2A1):c.952G>A (p.Gly318Arg) SNV Pathogenic 17396 rs121912894 GRCh37: 12:48387258-48387258
GRCh38: 12:47993475-47993475
2 COL2A1 NM_001844.5(COL2A1):c.800G>A (p.Gly267Asp) SNV Pathogenic 17364 rs121912872 GRCh37: 12:48388223-48388223
GRCh38: 12:47994440-47994440
3 COL2A1 COL2A1, 2-BP DEL, 4274GT Deletion Pathogenic 17386 GRCh37:
GRCh38:
4 COL2A1 NM_001844.5(COL2A1):c.3886+2T>C SNV Pathogenic 17399 rs1592196064 GRCh37: 12:48369098-48369098
GRCh38: 12:47975315-47975315
5 COL2A1 NM_001844.5(COL2A1):c.141G>A (p.Trp47Ter) SNV Pathogenic 17400 rs121912896 GRCh37: 12:48393853-48393853
GRCh38: 12:48000070-48000070
6 COL2A1 NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter) SNV Pathogenic 17401 rs121912897 GRCh37: 12:48393802-48393802
GRCh38: 12:48000019-48000019
7 COL2A1 NM_001844.5(COL2A1):c.170G>A (p.Cys57Tyr) SNV Pathogenic 17402 rs121912898 GRCh37: 12:48393824-48393824
GRCh38: 12:48000041-48000041
8 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) SNV Pathogenic 17366 rs121912874 GRCh37: 12:48372112-48372112
GRCh38: 12:47978329-47978329
9 COL2A1 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) SNV Pathogenic 195148 rs794727261 GRCh37: 12:48393736-48393736
GRCh38: 12:47999953-47999953
10 COL2A1 NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe) SNV Pathogenic 17384 rs121912885 GRCh37: 12:48377218-48377218
GRCh38: 12:47983435-47983435
11 COL2A1 NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) SNV Pathogenic 17395 rs121912893 GRCh37: 12:48377504-48377504
GRCh38: 12:47983721-47983721
12 COL2A1 NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) SNV Pathogenic 17395 rs121912893 GRCh37: 12:48377504-48377504
GRCh38: 12:47983721-47983721
13 COL2A1 NM_001844.5(COL2A1):c.3136C>T (p.Pro1046Ser) SNV Likely pathogenic 637048 rs751205887 GRCh37: 12:48371412-48371412
GRCh38: 12:47977629-47977629
14 COL2A1 NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val) SNV Uncertain significance 547841 rs886042009 GRCh37: 12:48374344-48374344
GRCh38: 12:47980561-47980561
15 COL2A1 NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) SNV Uncertain significance 308931 rs142770543 GRCh37: 12:48388220-48388220
GRCh38: 12:47994437-47994437

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

72
# 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

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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