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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Eye Diseases, Hereditary (D015785)
..Starting node ..Stickler Syndrome, Type I, Nonsyndromic Ocular (C563709)
Child Nodes:
Sister Nodes:
..Achromatopsia 4 (C564206)
..Achromatopsia 5 (C567759)
..Acrootoocular Syndrome (C564866)
..Aicardi Syndrome (D058540) 1
..Alacrima (C562827)
..Alacrima, Congenital (C566307)
..Albinism (D000417) 30
..Aniridia (D015783) 10
..Ataxia-Microcephaly-Cataract Syndrome (C563086)
..Basal Laminar Drusen (C563034)
..Bestrophinopathy (C567518)
..Bothnia Retinal Dystrophy (C564392)
..Cataract, Congenital Nuclear, Autosomal Recessive 1 (C563728)
..Cataract, Congenital Nuclear, Autosomal Recessive 2 (C565725)
..Cataract, Congenital Nuclear, Autosomal Recessive 3 (C566923)
..Cataract, Floriform (C566160)
..Cataract, Pulverulent (C563426)
..Cavitary Optic Disc Anomalies (C566924)
..Cholestasis with Gallstone, Ataxia, and Visual Disturbance (C565856)
..Choroideremia (D015794) 2
..Congenital Fibrosis of the Extraocular Muscles (C580012)
..Cornea Plana 1 (C565158)
..Cornea Plana 2 (C565677)
..Corneal Dystrophies, Hereditary (D003317) 61
..CSNB1C (C567704)
..Drusen, Radial, Autosomal Dominant (C565088)
..Duane Retraction Syndrome (D004370) 2
..Enhanced S-Cone Syndrome (C564835)
..Fibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
..Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement (C567572)
..Fibrosis of Extraocular Muscles, Congenital, 3B (C567739)
..Fibrosis of Extraocular Muscles, Congenital, 3C (C567666)
..Fleck Retina, Familial Benign (C565564)
..Foveal Hypoplasia with Anterior Segment Anomalies (C565006)
..Foveal Hypoplasia, Isolated (C565005)
..Graves Ophthalmopathy (D049970)
..Grouped Pigmentation of the Macula (C565530)
..Gyrate Atrophy (D015799) 1
..Histiocytic Dermatoarthritis (C564183)
..Hyperopia, High (C565497)
..Hypomagnesemia 5, Renal, with Ocular Involvement (C565423)
..Iris Pigment Epithelium Anomalies (C566651)
..Joubert Syndrome 8 (C567358)
..Leber Congenital Amaurosis (D057130) 20
..Macular Dystrophy, X-Linked (C564110)
..Megalocornea (C562829)
..Microcephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..Mydriasis, Congenital (C563221)
..Night blindness, congenital stationary (C536122) 4
..Night Blindness, Congenital Stationary, Autosomal Dominant 1 (C566474)
..Night Blindness, Congenital Stationary, Autosomal Dominant 2 (C566869)
..Night Blindness, Congenital Stationary, Autosomal Dominant 3 (C566475)
..Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects (C563701)
..Ophthalmomandibulomelic Dysplasia (C563501)
..Optic Atrophies, Hereditary (D015418) 30
..Peripapillary Atrophy, Beta Type (C566898)
..Persistent Hyperplastic Primary Vitreous, Autosomal Recessive (C566966)
..Pigmented Paravenous Chorioretinal Atrophy (C566801)
..Prolonged Electroretinal Response Suppression (C564243)
..Pseudoglaucoma (C566748)
..Pseudopapilledema (C562401)
..Retinal Aplasia (C566720)
..Retinal Dysplasia (D015792) 2
..Retinal Dystrophy, Early Onset Severe (C565741)
..Retinitis Pigmentosa (D012174) 132
..Retinohepatoendocrinologic Syndrome (C564839)
..Rhegmatogenous Retinal Detachment, Autosomal Dominant (C563710)
..Spondyloocular Syndrome, Autosomal Recessive (C565285)
..Stickler Syndrome, Type I, Nonsyndromic Ocular (C563709)
..Vascular Hyalinosis (C564750)
..Vitelliform Macular Dystrophy (D057826) 2
..Vitreoretinochoroidopathy (C536352)
..Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..Walker-Warburg Syndrome (D058494) 7
..Weill-Marchesani Syndrome (D056846)
..Weill-Marchesani-Like Syndrome (C567710)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10670

Name:

Stickler Syndrome, Type I, Nonsyndromic Ocular

Definition:

Alternative IDs:

OMIM:609508

ParentIDs:

MESH:D015785

TreeNumbers:

C11.270/C563709 |C16.320.290/C563709

Synonyms:

DRRD, INCLUDED |Stickler Syndrome, Atypical |STICKLER SYNDROME, ATYPICAL RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT, INCLUDED |Stickler Syndrome, Type I, Predominantly Ocular

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C563709
MeSH: C563709
OMIM: 609508;

Genes: COL2A1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004327	Abnormal vitreous humor morphology
3	HP:0000545	Myopia
4	HP:0012230	Rhegmatogenous retinal detachment

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001844.4(COL2A1):c.1999C>T (p.Leu667Phe)	1280	COL2A1	Pathogenic	121912885	RCV000144727; RCV000018927;	N	MedGen:C1836080,OMIM:609508,ORPHA:209867; MedGen:C2020284,OMIM:108300	12	48377218	48377218	NM_001844.4:c.1999C>T	NP_001835.3:p.Leu667Phe	NC_000012.11:g.48377218G>A	OMIM Allelic Variant:120140.0034	C2020284 108300 Stickler syndrome type 1; C1836080 609508 Stickler syndrome, type I, nonsyndromic ocular
NM_001844.4(COL2A1):c.1924G>T (p.Gly642Ter)	1280	COL2A1	Pathogenic	794727472	RCV000176926;	N	MedGen:C1836080,OMIM:609508,ORPHA:209867	12	48377887	48377887	NM_001844.4:c.1924G>T	NP_001835.3:p.Gly642Ter	NC_000012.11:g.48377887C>A	-	C1836080 609508 Stickler syndrome, type I, nonsyndromic ocular
NM_001844.4(COL2A1):c.800G>A (p.Gly267Asp)	1280	COL2A1	Pathogenic	121912872	RCV000018908;	N	MedGen:C1836080,OMIM:609508,ORPHA:209867	12	48388223	48388223	NM_001844.4:c.800G>A	NP_001835.3:p.Gly267Asp	NC_000012.11:g.48388223C>T	OMIM Allelic Variant:120140.0014	C1836080 609508 Stickler syndrome, type I, nonsyndromic ocular
NM_001844.4(COL2A1):c.192C>A (p.Cys64Ter)	1280	COL2A1	Pathogenic	121912897	RCV000018945;	N	MedGen:C1836080,OMIM:609508,ORPHA:209867	12	48393802	48393802	NM_001844.4:c.192C>A	NP_001835.3:p.Cys64Ter	NC_000012.11:g.48393802G>T	OMIM Allelic Variant:120140.0051	C1836080 609508 Stickler syndrome, type I, nonsyndromic ocular
NM_001844.4(COL2A1):c.170G>A (p.Cys57Tyr)	1280	COL2A1	Pathogenic	121912898	RCV000018946;	N	MedGen:C1836080,OMIM:609508,ORPHA:209867	12	48393824	48393824	NM_001844.4:c.170G>A	NP_001835.3:p.Cys57Tyr	NC_000012.11:g.48393824C>T	OMIM Allelic Variant:120140.0052	C1836080 609508 Stickler syndrome, type I, nonsyndromic ocular
NM_001844.4(COL2A1):c.141G>A (p.Trp47Ter)	1280	COL2A1	Pathogenic	121912896	RCV000018944;	N	MedGen:C1836080,OMIM:609508,ORPHA:209867	12	48393853	48393853	NM_001844.4:c.141G>A	NP_001835.3:p.Trp47Ter	NC_000012.11:g.48393853C>T	OMIM Allelic Variant:120140.0050	C1836080 609508 Stickler syndrome, type I, nonsyndromic ocular