Stickler Syndrome, Type Ii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

STL2 MCID: STC013 MIFTS: 36	Stickler Syndrome, Type Ii (STL2) Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Stickler Syndrome, Type Ii

MalaCards integrated aliases for Stickler Syndrome, Type Ii:

Name: Stickler Syndrome, Type Ii ⁵⁶ ¹³ ³⁹ ⁷¹

Stickler Syndrome Type 2 ⁵⁸ ²⁹ ⁶

Stickler Syndrome 2 ¹² ⁷³

Stl2 ⁵⁶ ⁷³

Stickler Syndrome, Beaded Vitreous Type ⁵⁶

Stickler Syndrome Beaded Vitreous Type ⁷³

Stickler Syndrome, Vitreous Type 2 ⁵⁶

Stickler Syndrome Vitreous Type 2 ⁷³

Stickler Syndrome, Type 2 ⁷⁴

Stickler Syndrome Type Ii ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

stickler syndrome type 2
Inheritance: Autosomal dominant;

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
allelic to marshall syndrome

HPO:

³¹

stickler syndrome, type ii:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases Ear diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other congenital malformation syndromes with other skeletal changes

Orphanet: ⁵⁸

Rare eye diseases

Rare otorhinolaryngological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0080675

OMIM ⁵⁶ 604841

OMIM Phenotypic Series ⁵⁶ PS108300

MeSH ⁴³ D003240

MESH via Orphanet ⁴⁴ C537493

ICD10 via Orphanet ³³ Q87.5

UMLS via Orphanet ⁷² C1858084

Orphanet ⁵⁸ ORPHA90654

MedGen ⁴¹ C1858084

UMLS ⁷¹ C1858084

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Summaries for Stickler Syndrome, Type Ii

UniProtKB/Swiss-Prot : ⁷³ Stickler syndrome 2: An autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable.

MalaCards based summary : Stickler Syndrome, Type Ii, also known as stickler syndrome type 2, is related to stickler syndrome and marshall syndrome. An important gene associated with Stickler Syndrome, Type Ii is COL11A1 (Collagen Type XI Alpha 1 Chain). Affiliated tissues include bone, tongue and eye, and related phenotypes are cataract and corneal opacity

Disease Ontology : ¹² A Stickler syndrome that has material basis in heterozygous mutation in the COL11A1 gene on chromosome 1p21.

Wikipedia : ⁷⁴ Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of very rare genetic... more...

More information from OMIM: 604841 PS108300

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Related Diseases for Stickler Syndrome, Type Ii

Diseases in the Stickler Syndrome family:

Stickler Syndrome, Type I	Stickler Syndrome, Type Ii
Stickler Syndrome, Type Iv	Stickler Syndrome, Type V
Autosomal Recessive Stickler Syndrome

Diseases related to Stickler Syndrome, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)

#	Related Disease	Score
1	stickler syndrome	11.7
2	marshall syndrome	11.4
3	vitreoretinal degeneration	11.3
4	osteoporosis-pseudoglioma syndrome	10.0
5	yemenite deaf-blind hypopigmentation syndrome	10.0
6	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.0
7	scoliosis	10.0
8	retinal detachment	10.0
9	astigmatism	10.0
10	pontocerebellar hypoplasia, type 9	10.0
11	joint laxity, short stature, and myopia	10.0
12	pontocerebellar hypoplasia	10.0
13	sensorineural hearing loss	10.0
14	myopia	10.0
15	hypotonia	10.0

Graphical network of the top 20 diseases related to Stickler Syndrome, Type Ii:

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Symptoms & Phenotypes for Stickler Syndrome, Type Ii

Human phenotypes related to Stickler Syndrome, Type Ii:

⁵⁸ ³¹ (show all 23)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	cataract ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000518
2	corneal opacity ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007957
3	sensorineural hearing impairment ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000407
4	myopia ⁵⁸ ³¹	very rare (1%)	Very frequent (99-80%)	HP:0000545
5	retinal detachment ⁵⁸ ³¹	very rare (1%)	Very frequent (99-80%)	HP:0000541
6	abnormal vitreous humor morphology ³¹	hallmark (90%)		HP:0004327
7	retinopathy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000488
8	cleft palate ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000175
9	high, narrow palate ³¹	very rare (1%)		HP:0002705
10	joint hypermobility ³¹	very rare (1%)		HP:0001382
11	midface retrusion ³¹	very rare (1%)		HP:0011800
12	bifid uvula ³¹	very rare (1%)		HP:0000193
13	depressed nasal bridge ³¹			HP:0005280
14	anteverted nares ³¹			HP:0000463
15	micrognathia ³¹			HP:0000347
16	arachnodactyly ³¹			HP:0001166
17	glaucoma ³¹			HP:0000501
18	malar flattening ³¹			HP:0000272
19	abnormality of the vitreous humor ⁵⁸		Very frequent (99-80%)
20	pierre-robin sequence ³¹			HP:0000201
21	long fingers ³¹			HP:0100807
22	arthropathy ³¹			HP:0003040
23	spondyloepiphyseal dysplasia ³¹			HP:0002655

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
cataract
glaucoma
retinal detachment
myopia (onset before 6 years)
type 2 vitreous phenotype (irregularly thickened fiber bundles throughout vitreous cavity)

Head And Neck Mouth:
cleft palate
bifid uvula
pierre-robin sequence

Skeletal Limbs:
joint hypermobility
slender extremities
arthropathy (onset third-fourth decade)

Head And Neck Ears:
sensorineural hearing loss

Skeletal:
mild spondyloepiphyseal dysplasia

Head And Neck Nose:
depressed nasal bridge
anteverted nares

Head And Neck Face:
micrognathia
flat midface

Skeletal Hands:
long fingers

Growth Height:
normal height

Clinical features from OMIM:

604841

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Drugs & Therapeutics for Stickler Syndrome, Type Ii

Search Clinical Trials , NIH Clinical Center for Stickler Syndrome, Type Ii

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Genetic Tests for Stickler Syndrome, Type Ii

Genetic tests related to Stickler Syndrome, Type Ii:

#	Genetic test	Affiliating Genes
1	Stickler Syndrome Type 2 ²⁹	COL11A1

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Anatomical Context for Stickler Syndrome, Type Ii

MalaCards organs/tissues related to Stickler Syndrome, Type Ii:

⁴⁰

Bone, Tongue, Eye, Heart

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Publications for Stickler Syndrome, Type Ii

Articles related to Stickler Syndrome, Type Ii:

(show all 33)

#	Title	Authors	PMID	Year
1	Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity. ⁶ ⁵⁶	Martin S...Snead MP	10573014	1999
2	A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. ⁶ ⁵⁶	Richards AJ...Snead MP	8872475	1996
3	Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity. ⁵⁶	Ang A...Snead M	17318849	2007
4	A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. ⁵⁶	Majava M...Mortier GR	17236192	2007
5	Clinical features of type 2 Stickler syndrome. ⁵⁶	Poulson AV...Snead MP	15286167	2004
6	Stickler Syndrome ⁶	Robin NH...Ala-Kokko L	20301479	2000
7	Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. ⁵⁶	Annunen S...Ala-Kokko L	10486316	1999
8	Marshall syndrome associated with a splicing defect at the COL11A1 locus. ⁵⁶	Griffith AJ...Warman ML	9529347	1998
9	Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review. ⁶¹	Boysen KB...Kessel L	32316871	2020
10	Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes. ⁶¹	Copikova J...Kremlikova Pourova R	32427345	2020
11	Implant Digital Impression in the Esthetic Area. ⁶¹	Monaco C...Zucchelli G	30357992	2019
12	A fully digital approach to replicate functional and aesthetic parameters in implant-supported full-arch rehabilitation. ⁶¹	Monaco C...Evangelisti E	29191608	2018
13	A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures. ⁶¹	Vogiatzi MG...Levine MA	28971234	2018
14	A mild form of Stickler syndrome type II caused by mosaicism of COL11A1. ⁶¹	Lauritsen KF...Gregersen PA	28315471	2017
15	A fully digital approach to replicate peri-implant soft tissue contours and emergence profile in the esthetic zone. ⁶¹	Monaco C...Zucchelli G	25907030	2016
16	[Role of soluble receptor ST2 measurment in diagnosis and prognostic stratification in patients with heart failure]. ⁶¹	Malek F...Neuzil P	26806499	2015
17	Transmembrane signaling in Saccharomyces cerevisiae as a model for signaling in metazoans: state of the art after 25 years. ⁶¹	Engelberg D...Levitzki A	25218923	2014
18	Testosterone ameliorates streptozotocin-induced memory impairment in male rats. ⁶¹	Nayebi AM...Hossini S	24902786	2014
19	Adaptive immunity restricts replication of novel murine astroviruses. ⁶¹	Yokoyama CC...Thackray LB	22951832	2012
20	A permease encoded by STL1 is required for active glycerol uptake by Candida albicans. ⁶¹	Kayingo G...Wong B	19383674	2009
21	Clinical features of the congenital vitreoretinopathies. ⁶¹	Edwards AO	18309337	2008
22	Isolation of the salmonid rhamnose-binding lectin STL2 from spores of the microsporidian fish parasite Loma salmonae. ⁶¹	Booy A...Olafson RW	16159363	2005
23	Developmental expression of a sialyltransferase responsible for sialylation of cortical alveolus glycoprotein during oogenesis in rainbow trout (Oncorhynchus mykiss). ⁶¹	Asahina S...Kitajima K	15496590	2004
24	Immunohistochemical localization of rhamnose-binding lectins in the steelhead trout (Oncorhynchus mykiss). ⁶¹	Tateno H...Saneyoshi M	12031414	2002
25	Tissue-specific expression of rhamnose-binding lectins in the steelhead trout (Oncorhynchus mykiss). ⁶¹	Tateno H...Kamiya H	12162575	2002
26	Distribution and molecular evolution of rhamnose-binding lectins in Salmonidae: isolation and characterization of two lectins from white-spotted Charr (Salvelinus leucomaenis) eggs. ⁶¹	Tateno H...Saneyoshi M	12162558	2002
27	Rhamnose-binding lectins from steelhead trout (Oncorhynchus mykiss) eggs recognize bacterial lipopolysaccharides and lipoteichoic acid. ⁶¹	Tateno H...Saneyoshi M	12005056	2002
28	A novel rhamnose-binding lectin family from eggs of steelhead trout (Oncorhynchus mykiss) with different structures and tissue distribution. ⁶¹	Tateno H...Saneyoshi M	11471732	2001
29	Hearing loss in the nonocular Stickler syndrome caused by a COL11A2 mutation. ⁶¹	Admiraal RJ...Cremers CW	10718438	2000
30	The type XI collagenopathies. ⁶¹	Spranger J	9799295	1998
31	Isolation and characterization of rhamnose-binding lectins from eggs of steelhead trout (Oncorhynchus mykiss) homologous to low density lipoprotein receptor superfamily. ⁶¹	Tateno H...Saneyoshi M	9668106	1998
32	Molecular cloning and characterization of two novel isoforms of the small subunit of ADPglucose pyrophosphorylase from sweet potato. ⁶¹	Bae JM...Liu JR	9108280	1997
33	Selection of a mutation conferring high NaCl tolerance to gametophytes of Ceratopteris. ⁶¹	Hickok LG...Warne TR	24221255	1991

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Genes for Stickler Syndrome, Type Ii

Genes related to Stickler Syndrome, Type Ii (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	COL11A1	Collagen Type XI Alpha 1 Chain	Protein Coding	1650	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹	10573014 8872475 20301479

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Variations for Stickler Syndrome, Type Ii

ClinVar genetic disease variations for Stickler Syndrome, Type Ii:

⁶ (show top 50) (show all 166) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	COL11A1	NM_001854.4(COL11A1):c.4396G>T (p.Glu1466Ter)	SNV	Pathogenic	560981	rs866783525	1:103355079-103355079	1:102889523-102889523
2	COL11A1	NM_001854.4(COL11A1):c.3438+2_3438+3del	short repeat	Pathogenic	619967	rs1557847904	1:103404588-103404589	1:102939032-102939033
3	COL11A1	NM_001854.4(COL11A1):c.1874G>T (p.Gly625Val)	SNV	Pathogenic	17131	rs121912943	1:103470189-103470189	1:103004633-103004633
4	COL11A1	COL11A1, 54-BP EX DEL, AS, AG-TG	deletion	Pathogenic	17135
5	COL11A1	NM_001854.4(COL11A1):c.2754+5G>A	SNV	Pathogenic	374386	rs1057518666	1:103444259-103444259	1:102978703-102978703
6	COL11A1	NM_001854.4(COL11A1):c.2972G>A (p.Gly991Asp)	SNV	Likely pathogenic	623159	rs1557877041	1:103428261-103428261	1:102962705-102962705
7	COL11A1	NM_001854.4(COL11A1):c.1862_1870del (p.Gln621_Pro623del)	deletion	Likely pathogenic	623158	rs1557932876	1:103470193-103470201	1:103004637-103004645
8	COL11A1	NM_001854.4(COL11A1):c.4087-4A>G	SNV	Conflicting interpretations of pathogenicity	514876	rs137999403	1:103364554-103364554	1:102898998-102898998
9	COL11A1	NM_001854.4(COL11A1):c.1926A>G (p.Arg642=)	SNV	Conflicting interpretations of pathogenicity	681382		1:103470018-103470018	1:103004462-103004462
10	COL11A1	NM_001854.4(COL11A1):c.456C>T (p.Pro152=)	SNV	Conflicting interpretations of pathogenicity	731001		1:103544246-103544246	1:103078690-103078690
11	COL11A1	NM_001854.4(COL11A1):c.489-4T>A	SNV	Conflicting interpretations of pathogenicity	728988		1:103540340-103540340	1:103074784-103074784
12	COL11A1	NM_001854.4(COL11A1):c.924A>G (p.Glu308=)	SNV	Conflicting interpretations of pathogenicity	735693		1:103491143-103491143	1:103025587-103025587
13	COL11A1	NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser)	SNV	Conflicting interpretations of pathogenicity	93968	rs56230601	1:103548420-103548420	1:103082864-103082864
14	COL11A1	NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=)	SNV	Conflicting interpretations of pathogenicity	166922	rs147637674	1:103379193-103379193	1:102913637-102913637
15	COL11A1	NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu)	SNV	Conflicting interpretations of pathogenicity	197911	rs150669855	1:103381192-103381192	1:102915636-102915636
16	COL11A1	NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr)	SNV	Conflicting interpretations of pathogenicity	197964	rs151249006	1:103377744-103377744	1:102912188-102912188
17	COL11A1	NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu)	SNV	Conflicting interpretations of pathogenicity	198019	rs55821405	1:103355059-103355059	1:102889503-102889503
18	COL11A1	NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)	SNV	Conflicting interpretations of pathogenicity	198360	rs140250347	1:103345315-103345315	1:102879759-102879759
19	COL11A1	NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)	SNV	Conflicting interpretations of pathogenicity	198474	rs183130583	1:103491102-103491102	1:103025546-103025546
20	COL11A1	NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)	SNV	Conflicting interpretations of pathogenicity	198777	rs144884147	1:103488522-103488522	1:103022966-103022966
21	COL11A1	NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu)	SNV	Conflicting interpretations of pathogenicity	876781		1:103444283-103444283	1:102978727-102978727
22	COL11A1	NM_001854.4(COL11A1):c.3277-13A>C	SNV	Conflicting interpretations of pathogenicity	258457	rs371455495	1:103406003-103406003	1:102940447-102940447
23	COL11A1	NM_001854.4(COL11A1):c.5273C>T (p.Ala1758Val)	SNV	Conflicting interpretations of pathogenicity	284750	rs202065765	1:103345240-103345240	1:102879684-102879684
24	COL11A1	NM_001854.4(COL11A1):c.2322G>A (p.Lys774=)	SNV	Conflicting interpretations of pathogenicity	289407	rs140608161	1:103461438-103461438	1:102995882-102995882
25	COL11A1	NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=)	SNV	Conflicting interpretations of pathogenicity	289661	rs143651470	1:103388907-103388907	1:102923351-102923351
26	COL11A1	NM_001854.4(COL11A1):c.*809C>T	SNV	Conflicting interpretations of pathogenicity	291481	rs143875783	1:103342766-103342766	1:102877210-102877210
27	COL11A1	NM_001854.4(COL11A1):c.*1227T>A	SNV	Conflicting interpretations of pathogenicity	291475	rs538679983	1:103342348-103342348	1:102876792-102876792
28	COL11A1	NM_001854.4(COL11A1):c.*579A>G	SNV	Conflicting interpretations of pathogenicity	291486	rs536837264	1:103342996-103342996	1:102877440-102877440
29	COL11A1	NM_001854.4(COL11A1):c.*1203G>A	SNV	Conflicting interpretations of pathogenicity	291476	rs190577885	1:103342372-103342372	1:102876816-102876816
30	COL11A1	NM_001854.4(COL11A1):c.*508G>A	SNV	Conflicting interpretations of pathogenicity	291487	rs3088150	1:103343067-103343067	1:102877511-102877511
31	COL11A1	NM_001854.4(COL11A1):c.4495C>T (p.Pro1499Ser)	SNV	Conflicting interpretations of pathogenicity	291500	rs199952288	1:103354445-103354445	1:102888889-102888889
32	COL11A1	NM_001854.4(COL11A1):c.5003C>T (p.Pro1668Leu)	SNV	Conflicting interpretations of pathogenicity	291492	rs541676352	1:103347290-103347290	1:102881734-102881734
33	COL11A1	NM_001854.4(COL11A1):c.*17A>G	SNV	Conflicting interpretations of pathogenicity	291491	rs190728953	1:103343558-103343558	1:102878002-102878002
34	COL11A1	NM_001854.4(COL11A1):c.1180A>G (p.Thr394Ala)	SNV	Conflicting interpretations of pathogenicity	291537	rs538837278	1:103488363-103488363	1:103022807-103022807
35	COL11A1	NM_001854.4(COL11A1):c.3447C>T (p.Pro1149=)	SNV	Conflicting interpretations of pathogenicity	291516	rs141432979	1:103400661-103400661	1:102935105-102935105
36	COL11A1	NM_001854.4(COL11A1):c.3297G>C (p.Gly1099=)	SNV	Conflicting interpretations of pathogenicity	291518	rs768553239	1:103405970-103405970	1:102940414-102940414
37	COL11A1	NM_001854.4(COL11A1):c.4805A>G (p.Asn1602Ser)	SNV	Conflicting interpretations of pathogenicity	291495	rs75495145	1:103352416-103352416	1:102886860-102886860
38	COL11A1	NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg)	SNV	Conflicting interpretations of pathogenicity	291548	rs141978499	1:103544374-103544374	1:103078818-103078818
39	COL11A1	NM_001854.4(COL11A1):c.318A>G (p.Lys106=)	SNV	Conflicting interpretations of pathogenicity	291549	rs150668398	1:103544384-103544384	1:103078828-103078828
40	COL11A1	NM_001854.4(COL11A1):c.1899+3A>G	SNV	Conflicting interpretations of pathogenicity	291528	rs374676938	1:103470161-103470161	1:103004605-103004605
41	COL11A1	NM_001854.4(COL11A1):c.1630-13T>C	SNV	Conflicting interpretations of pathogenicity	291532	rs370547604	1:103474085-103474085	1:103008529-103008529
42	COL11A1	NM_001854.4(COL11A1):c.1896G>A (p.Met632Ile)	SNV	Conflicting interpretations of pathogenicity	291529	rs199835797	1:103470167-103470167	1:103004611-103004611
43	COL11A1	NM_001854.4(COL11A1):c.1427G>A (p.Arg476His)	SNV	Conflicting interpretations of pathogenicity	291535	rs149558726	1:103481285-103481285	1:103015729-103015729
44	COL11A1	NM_001854.4(COL11A1):c.1506T>C (p.Asp502=)	SNV	Conflicting interpretations of pathogenicity	291533	rs141770006	1:103480133-103480133	1:103014577-103014577
45	COL11A1	NM_001854.4(COL11A1):c.898-15T>C	SNV	Conflicting interpretations of pathogenicity	291541	rs200242905	1:103491184-103491184	1:103025628-103025628
46	COL11A1	NM_001854.4(COL11A1):c.2020C>T (p.Pro674Ser)	SNV	Conflicting interpretations of pathogenicity	291526	rs201849355	1:103468326-103468326	1:103002770-103002770
47	COL11A1	NM_001854.4(COL11A1):c.-50A>G	SNV	Conflicting interpretations of pathogenicity	291554	rs369810404	1:103573784-103573784	1:103108228-103108228
48	COL11A1	NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn)	SNV	Conflicting interpretations of pathogenicity	392007	rs143206624	1:103352419-103352419	1:102886863-102886863
49	COL11A1	NM_001854.4(COL11A1):c.1320C>T (p.Val440=)	SNV	Conflicting interpretations of pathogenicity	291536	rs201585594	1:103484404-103484404	1:103018848-103018848
50	COL11A1	NM_001854.4(COL11A1):c.845A>G (p.Glu282Gly)	SNV	Conflicting interpretations of pathogenicity	291542	rs199539580	1:103491824-103491824	1:103026268-103026268

UniProtKB/Swiss-Prot genetic disease variations for Stickler Syndrome, Type Ii:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	COL11A1	p.Gly625Val	VAR_013583	rs121912943
2	COL11A1	p.Gly676Arg	VAR_013584	rs749663226
3	COL11A1	p.Gly1516Val	VAR_013587	rs155319391
4	COL11A1	p.Gly565Val	VAR_063675
5	COL11A1	p.Gly1027Arg	VAR_063676
6	COL11A1	p.Gly1513Asp	VAR_063678	rs155319391

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Expression for Stickler Syndrome, Type Ii

Search GEO for disease gene expression data for Stickler Syndrome, Type Ii.

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Stickler Syndrome, Type Ii (STL2)

Aliases & Classifications for Stickler Syndrome, Type Ii

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Expression for Stickler Syndrome, Type Ii

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Sources for Stickler Syndrome, Type Ii