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Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Arthritis (D001168)
Parent Node: Connective Tissue Diseases (D003240)
Parent Node: Hearing Loss, Sensorineural (D006319)
Parent Node: Retinal Detachment (D012163)
..Starting node ..Stickler syndrome, type 1 (C537492)
Child Nodes:
Sister Nodes:
..Diverticulosis of Bowel, Hernia, and Retinal Detachment (C565619)
..Knobloch syndrome (C537209)
..Knobloch Syndrome Type II (C548030)
..Knobloch Syndrome Type III (C548031)
..Lattice Degeneration of Retina Leading to Retinal Detachment (C563633)
..Retinal Nonattachment And Falciform Detachment (C566717)
..Rhegmatogenous Retinal Detachment, Autosomal Dominant (C563710)
..Spondyloocular Syndrome, Autosomal Recessive (C565285)
..Stickler syndrome, type 1 (C537492)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10667

Name:

Stickler syndrome, type 1

Definition:

Alternative IDs:

OMIM:108300

ParentIDs:

MESH:D001168|MESH:D003240|MESH:D006319|MESH:D012163

TreeNumbers:

C05.550.114/C537492 |C09.218.458.341.887/C537492 |C10.597.751.418.341.887/C537492 |C11.768.648/C537492 |C17.300/C537492 |C23.888.592.763.393.341.887/C537492

Synonyms:

Slim Mappings:

Reference:

MedGen: C537492
MeSH: C537492
OMIM: 108300;

Genes: COL2A1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000463	Anteverted nares
3	HP:0001166	Arachnodactyly
4	HP:0003040	Arthropathy
5	HP:0004568	Beaking of vertebral bodies
6	HP:0000618	Blindness
7	HP:0000518	Cataract	HP:0040283
8	HP:0000175	Cleft palate
9	HP:0000405	Conductive hearing impairment	HP:0040283
10	HP:0005280	Depressed nasal bridge
11	HP:0001519	Disproportionate tall stature
12	HP:0000501	Glaucoma
13	HP:0006361	Irregular femoral epiphysis
14	HP:0002808	Kyphosis
15	HP:0000272	Malar flattening
16	HP:0011800	Midface retrusion
17	HP:0001634	Mitral valve prolapse
18	HP:0000545	Myopia
19	HP:0000767	Pectus excavatum
20	HP:0000201	Pierre-Robin sequence
21	HP:0000926	Platyspondyly
22	HP:0000541	Retinal detachment
23	HP:0002650	Scoliosis
24	HP:0000407	Sensorineural hearing impairment
25	HP:0002655	Spondyloepiphyseal dysplasia

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.3791_3794delACCA (p.Asn1264Argfs)	1280	COL2A1	Pathogenic	794727748	RCV000179086;	N	MedGen:C2020284,OMIM:108300	12	48369192	48369195	NM_001844.4:c.3791_3794delACCA	NP_001835.3:p.Asn1264Argfs	NC_000012.11:g.48369192_48369195delTGGT	-	C2020284 108300 Stickler syndrome type 1
NM_001844.4(COL2A1):c.3138delT (p.Gly1047Alafs)	1280	COL2A1	Pathogenic	121912873	RCV000018909;	N	MedGen:C2020284,OMIM:108300	12	48371410	48371410	NM_001844.4:c.3138delT	NP_001835.3:p.Gly1047Alafs	NC_000012.11:g.48371410delA	OMIM Allelic Variant:120140.0015	C2020284 108300 Stickler syndrome type 1
NM_001844.4(COL2A1):c.3106C>T (p.Arg1036Ter)	1280	COL2A1	Pathogenic	748459670	RCV000178552;	N	MedGen:C2020284,OMIM:108300	12	48371798	48371798	NM_001844.4:c.3106C>T	NP_001835.3:p.Arg1036Ter	NC_000012.11:g.48371798G>A	-	C2020284 108300 Stickler syndrome type 1
NM_001844.4(COL2A1):c.2794C>T (p.Arg932Ter)	1280	COL2A1	Pathogenic	121912866	RCV000018899;	N	MedGen:C2020284,OMIM:108300	12	48372481	48372481	NM_001844.4:c.2794C>T	NP_001835.3:p.Arg932Ter	NC_000012.11:g.48372481G>A	OMIM Allelic Variant:120140.0005	C2020284 108300 Stickler syndrome type 1
NM_001844.4(COL2A1):c.2530C>T (p.Gln844Ter)	1280	COL2A1	Pathogenic	794727607	RCV000177979;	N	MedGen:C2020284,OMIM:108300	12	48374432	48374432	NM_001844.4:c.2530C>T	NP_001835.3:p.Gln844Ter	NC_000012.11:g.48374432G>A	-	C2020284 108300 Stickler syndrome type 1
NM_001844.4(COL2A1):c.2428G>T (p.Gly810Cys)	1280	COL2A1	Likely pathogenic	794727596	RCV000177904;	N	MedGen:C2020284,OMIM:108300	12	48375161	48375161	NM_001844.4:c.2428G>T	NP_001835.3:p.Gly810Cys	NC_000012.11:g.48375161C>A	-	C2020284 108300 Stickler syndrome type 1
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.1957C>T (p.Arg653Ter)	1280	COL2A1	Pathogenic	121912893	RCV000018938; RCV000018939;	N	MedGen:C1836081; MedGen:C2020284,OMIM:108300	12	48377504	48377504	NM_001844.4:c.1957C>T	NP_001835.3:p.Arg653Ter	NC_000012.11:g.48377504G>A	OMIM Allelic Variant:120140.0045	C1836081 Rhegmatogenous retinal detachment, autosomal dominant; C2020284 108300 Stickler syndrome type 1
NM_001844.4(COL2A1):c.1861G>A (p.Gly621Arg)	1280	COL2A1	Likely pathogenic	794727462	RCV000176855;	N	MedGen:C2020284,OMIM:108300	12	48378355	48378355	NM_001844.4:c.1861G>A	NP_001835.3:p.Gly621Arg	NC_000012.11:g.48378355C>T	-	C2020284 108300 Stickler syndrome type 1
NM_001844.4(COL2A1):c.1693C>T (p.Arg565Cys)	1280	COL2A1	Pathogenic	121912884	RCV000018926;	N	MedGen:C2020284,OMIM:108300	12	48379358	48379358	NM_001844.4:c.1693C>T	NP_001835.3:p.Arg565Cys	NC_000012.11:g.48379358G>A	OMIM Allelic Variant:120140.0033	C2020284 108300 Stickler syndrome type 1
NM_001844.4(COL2A1):c.1420-2A>C	1280	COL2A1	Pathogenic	794727377	RCV000176387; RCV000176386;	N	MedGen:C0796173,OMIM:271700,ORPHA:1856; MedGen:C2020284,OMIM:108300	12	48380228	48380228	NM_001844.4:c.1420-2A>C		NC_000012.11:g.48380228T>G	-	C0796173 271700 Spondyloperipheral dysplasia; C2020284 108300 Stickler syndrome type 1
NM_001844.4(COL2A1):c.1214delG (p.Gly405Valfs)	1280	COL2A1	Pathogenic	794727225	RCV000175420;	N	MedGen:C2020284,OMIM:108300	12	48381401	48381401	NM_001844.4:c.1214delG	NP_001835.3:p.Gly405Valfs	NC_000012.11:g.48381401delC	-	C2020284 108300 Stickler syndrome type 1
NM_001844.4(COL2A1):c.1056delC (p.Ala353Glnfs)	1280	COL2A1	Pathogenic	794727185	RCV000175163;	N	MedGen:C2020284,OMIM:108300	12	48383556	48383556	NM_001844.4:c.1056delC	NP_001835.3:p.Ala353Glnfs	NC_000012.11:g.48383556delG	-	C2020284 108300 Stickler syndrome type 1
NM_001844.4(COL2A1):c.1052delG (p.Gly351Alafs)	1280	COL2A1	Pathogenic	398123628	RCV000175162; RCV000079723;	N	MedGen:C2020284,OMIM:108300; MedGen:CN221809	12	48383560	48383560	NM_001844.4:c.1052delG	NP_001835.3:p.Gly351Alafs	NC_000012.11:g.48383560delC	-	CN221809 not provided; C2020284 108300 Stickler syndrome type 1
NM_001844.4(COL2A1):c.908G>A (p.Gly303Asp)	1280	COL2A1	Pathogenic	121912877	RCV000174720; RCV000018914;	N	MedGen:C0265279,OMIM:156550,ORPHA:485,SNOMED CT:53974002; MedGen:C2020284,OMIM:108300	12	48387608	48387608	NM_001844.4:c.908G>A	NP_001835.3:p.Gly303Asp	NC_000012.11:g.48387608C>T	OMIM Allelic Variant:120140.0020	C0265279 156550 Kniest dysplasia; C2020284 108300 Stickler syndrome type 1
NM_001844.4(COL2A1):c.762+1G>A	1280	COL2A1	Pathogenic	794727026	RCV000174056;	N	MedGen:C2020284,OMIM:108300	12	48389037	48389037	NM_001844.4:c.762+1G>A		NC_000012.11:g.48389037C>T	-	C2020284 108300 Stickler syndrome type 1
NM_001844.4(COL2A1):c.625C>T (p.Arg209Ter)	1280	COL2A1	Pathogenic	121912869	RCV000018904;	N	MedGen:C2020284,OMIM:108300	12	48389687	48389687	NM_001844.4:c.625C>T	NP_001835.3:p.Arg209Ter	NC_000012.11:g.48389687G>A	OMIM Allelic Variant:120140.0010	C2020284 108300 Stickler syndrome type 1
NM_001844.4(COL2A1):c.258C>A (p.Cys86Ter)	1280	COL2A1	Pathogenic	794727261	RCV000175700;	N	MedGen:C2020284,OMIM:108300	12	48393736	48393736	NM_001844.4:c.258C>A	NP_001835.3:p.Cys86Ter	NC_000012.11:g.48393736G>T	-	C2020284 108300 Stickler syndrome type 1
NM_001844.4(COL2A1):c.85+1G>C	1280	COL2A1	Pathogenic	727503882	RCV000173262; RCV000153078;	N	MedGen:C2020284,OMIM:108300; MedGen:CN221809	12	48398019	48398019	NM_001844.4:c.85+1G>C		NC_000012.11:g.48398019C>G	-	CN221809 not provided; C2020284 108300 Stickler syndrome type 1