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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

Disease Browser
Parent Node: Arthritis (D001168)
Parent Node: Connective Tissue Diseases (D003240)
..Starting node ..Stickler syndrome, type 3 (C537494)
Child Nodes:
Sister Nodes:
..Alpha-2-Deficient Collagen Disease (C565963)
..Anetoderma (D057088) 2
..Bone Fragility with Contractures, Arterial Rupture, and Deafness (C567320)
..Cartilage Diseases (D002357) 22
..Cellulitis (D002481) 3
..Collagen Diseases (D003095) 84
..Cutis Laxa (D003483) 17
..Dermatomyositis (D003882) 2
..Dupuytren Contracture (D004387) 2
..Fascial Dystrophy, Congenital (C563219)
..Homocystinuria (D006712) 5
..Lipedema (D065134)
..Lupus Erythematosus, Cutaneous (D008178) 3
..Lupus Erythematosus, Systemic (D008180) 7
..Marden-Walker syndrome (C535910)
..Marfan Syndrome (D008382) 9
..Mixed Connective Tissue Disease (D008947)
..Mucinoses (D017520) 16
..Neoplasms, Connective Tissue (D009372) 105
..Noonan Syndrome (D009634) 12
..Osteopoikilosis (D010023) 4
..Panniculitis (D015434) 6
..Penile Induration (D010411)
..Pseudoxanthoma Elasticum (D011561) 2
..Rheumatic Diseases (D012216) 38
..Scleroderma, Localized (D012594) 5
..Scleroderma, Systemic (D012595) 7
..Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..Stickler syndrome, type 1 (C537492)
..Stickler syndrome, type 2 (C537493)
..Stickler syndrome, type 3 (C537494)
..Weill-Marchesani Syndrome (D056846)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10669

Name:

Stickler syndrome, type 3

Definition:

Alternative IDs:

OMIM:184840

ParentIDs:

MESH:D001168|MESH:D003240

TreeNumbers:

C05.550.114/C537494 |C17.300/C537494

Synonyms:

Stickler syndrome nonocular type |Stickler Syndrome, Nonocular Type |Stickler Syndrome, Type III |STL3

Slim Mappings:

Connective tissue disease|Musculoskeletal disease

Reference:

MedGen: C537494
MeSH: C537494
OMIM: 184840;

Genes: COL11A2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000478	Abnormality of the eye
3	HP:0000463	Anteverted nares
4	HP:0002829	Arthralgia
5	HP:0000175	Cleft palate
6	HP:0010580	Enlarged epiphyses
7	HP:0002656	Epiphyseal dysplasia
8	HP:0000272	Malar flattening
9	HP:0011800	Midface retrusion
10	HP:0000201	Pierre-Robin sequence
11	HP:0000926	Platyspondyly
12	HP:0003088	Premature osteoarthritis
13	HP:0000407	Sensorineural hearing impairment

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_080680.2(COL11A2):c.4392+1G>A	1302	COL11A2	Pathogenic	750995470	RCV000018657;	N	MedGen:C1861481,OMIM:184840,ORPHA:166100	6	33134289	33134289	NM_080680.2:c.4392+1G>A		NC_000006.11:g.33134289C>T	OMIM Allelic Variant:120290.0001	C1861481 184840 Stickler syndrome, type 3
NM_080680.2(COL11A2):c.4135C>T (p.Arg1379Ter)	1302	COL11A2	Pathogenic	121912950	RCV000018665;	N	MedGen:C1861481,OMIM:184840,ORPHA:166100	6	33135082	33135082	NM_080680.2:c.4135C>T	NP_542411.2:p.Arg1379Ter	NC_000006.11:g.33135082G>A	OMIM Allelic Variant:120290.0008	C1861481 184840 Stickler syndrome, type 3
NM_080680.2(COL11A2):c.2822_2848del27 (p.Glu941_Pro950delinsAla)	1302	COL11A2	Pathogenic	864309477	RCV000018659;	N	MedGen:C1861481,OMIM:184840,ORPHA:166100	6	33140357	33140383	NM_080680.2:c.2822_2848del27	NP_542411.2:p.Glu941_Pro950delinsAla	NC_000006.11:g.33140357_33140383del27	OMIM Allelic Variant:120290.0003	C1861481 184840 Stickler syndrome, type 3