STL2
MCID: STC013
MIFTS: 36

Stickler Syndrome, Type Ii (STL2)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Stickler Syndrome, Type Ii

MalaCards integrated aliases for Stickler Syndrome, Type Ii:

Name: Stickler Syndrome, Type Ii 57 13 39 70
Stickler Syndrome Type 2 58 29 6
Stickler Syndrome 2 12 72
Stl2 57 72
Stickler Syndrome, Beaded Vitreous Type 57
Stickler Syndrome Beaded Vitreous Type 72
Stickler Syndrome, Vitreous Type 2 57
Stickler Syndrome Vitreous Type 2 72
Stickler Syndrome, Type 2 73
Stickler Syndrome Type Ii 72

Characteristics:

Orphanet epidemiological data:

58
stickler syndrome type 2
Inheritance: Autosomal dominant;

OMIM®:

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

Miscellaneous:
allelic to marshall syndrome


HPO:

31
stickler syndrome, type ii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080675
OMIM® 57 604841
OMIM Phenotypic Series 57 PS108300
MeSH 44 D003240
MESH via Orphanet 45 C537493
ICD10 via Orphanet 33 Q87.5
UMLS via Orphanet 71 C1858084
Orphanet 58 ORPHA90654
MedGen 41 C1858084
UMLS 70 C1858084

Summaries for Stickler Syndrome, Type Ii

UniProtKB/Swiss-Prot : 72 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 marshall syndrome and vitreoretinal degeneration. An important gene associated with Stickler Syndrome, Type Ii is COL11A1 (Collagen Type XI Alpha 1 Chain). Affiliated tissues include eye, tongue and heart, 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 : 73 Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of very rare genetic... more...

More information from OMIM: 604841 PS108300

Related Diseases for Stickler Syndrome, Type Ii

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



Diseases related to Stickler Syndrome, Type Ii

Symptoms & Phenotypes for Stickler Syndrome, Type Ii

Human phenotypes related to Stickler Syndrome, Type Ii:

58 31 (show all 22)
# 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 58 31 hallmark (90%) Very frequent (99-80%) 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 pierre-robin sequence 31 HP:0000201
20 long fingers 31 HP:0100807
21 arthropathy 31 HP:0003040
22 spondyloepiphyseal dysplasia 31 HP:0002655

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

Drugs & Therapeutics for Stickler Syndrome, Type Ii

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

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

Anatomical Context for Stickler Syndrome, Type Ii

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

40
Eye, Tongue, Heart

Publications for Stickler Syndrome, Type Ii

Articles related to Stickler Syndrome, Type Ii:

(show all 39)
# Title Authors PMID Year
1
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. 57 6
10486316 1999
2
Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity. 57 6
10573014 1999
3
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. 57 6
8872475 1996
4
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis. 6
32963807 2020
5
A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome. 6
27081569 2016
6
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 6
20513134 2010
7
Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity. 57
17318849 2007
8
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. 57
17236192 2007
9
Clinical features of type 2 Stickler syndrome. 57
15286167 2004
10
Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta. 6
11668615 2001
11
Destabilization of osteogenesis imperfecta collagen-like model peptides correlates with the identity of the residue replacing glycine. 6
10725403 2000
12
Marshall syndrome associated with a splicing defect at the COL11A1 locus. 57
9529347 1998
13
The origin and past demography of murine astrovirus 1 in laboratory mice. 61
33206033 2021
14
Stickler Syndrome (SS): Laser Prophylaxis for Retinal Detachment (Modified Ora Secunda Cerclage, OSC/SS). 61
33447008 2021
15
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes. 61
32427345 2020
16
Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review. 61
32316871 2020
17
Implant Digital Impression in the Esthetic Area. 61
30357992 2019
18
A fully digital approach to replicate functional and aesthetic parameters in implant-supported full-arch rehabilitation. 61
29191608 2018
19
A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures. 61
28971234 2018
20
A mild form of Stickler syndrome type II caused by mosaicism of COL11A1. 61
28315471 2017
21
A fully digital approach to replicate peri-implant soft tissue contours and emergence profile in the esthetic zone. 61
25907030 2016
22
[Role of soluble receptor ST2 measurment in diagnosis and prognostic stratification in patients with heart failure]. 61
26806499 2015
23
Transmembrane signaling in Saccharomyces cerevisiae as a model for signaling in metazoans: state of the art after 25 years. 61
25218923 2014
24
Testosterone ameliorates streptozotocin-induced memory impairment in male rats. 61
24902786 2014
25
Adaptive immunity restricts replication of novel murine astroviruses. 61
22951832 2012
26
A permease encoded by STL1 is required for active glycerol uptake by Candida albicans. 61
19383674 2009
27
Clinical features of the congenital vitreoretinopathies. 61
18309337 2008
28
Isolation of the salmonid rhamnose-binding lectin STL2 from spores of the microsporidian fish parasite Loma salmonae. 61
16159363 2005
29
Developmental expression of a sialyltransferase responsible for sialylation of cortical alveolus glycoprotein during oogenesis in rainbow trout (Oncorhynchus mykiss). 61
15496590 2004
30
Immunohistochemical localization of rhamnose-binding lectins in the steelhead trout (Oncorhynchus mykiss). 61
12031414 2002
31
Tissue-specific expression of rhamnose-binding lectins in the steelhead trout (Oncorhynchus mykiss). 61
12162575 2002
32
Distribution and molecular evolution of rhamnose-binding lectins in Salmonidae: isolation and characterization of two lectins from white-spotted Charr (Salvelinus leucomaenis) eggs. 61
12162558 2002
33
Rhamnose-binding lectins from steelhead trout (Oncorhynchus mykiss) eggs recognize bacterial lipopolysaccharides and lipoteichoic acid. 61
12005056 2002
34
A novel rhamnose-binding lectin family from eggs of steelhead trout (Oncorhynchus mykiss) with different structures and tissue distribution. 61
11471732 2001
35
Hearing loss in the nonocular Stickler syndrome caused by a COL11A2 mutation. 61
10718438 2000
36
The type XI collagenopathies. 61
9799295 1998
37
Isolation and characterization of rhamnose-binding lectins from eggs of steelhead trout (Oncorhynchus mykiss) homologous to low density lipoprotein receptor superfamily. 61
9668106 1998
38
Molecular cloning and characterization of two novel isoforms of the small subunit of ADPglucose pyrophosphorylase from sweet potato. 61
9108280 1997
39
Selection of a mutation conferring high NaCl tolerance to gametophytes of Ceratopteris. 61
24221255 1991

Variations for Stickler Syndrome, Type Ii

ClinVar genetic disease variations for Stickler Syndrome, Type Ii:

6 (show top 50) (show all 174)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL11A1 NM_001854.4(COL11A1):c.1874G>T (p.Gly625Val) SNV Pathogenic 17131 rs121912943 GRCh37: 1:103470189-103470189
GRCh38: 1:103004633-103004633
2 COL11A1 COL11A1, 54-BP EX DEL, AS, AG-TG Deletion Pathogenic 17135 GRCh37:
GRCh38:
3 COL11A1 NM_001854.4(COL11A1):c.4396G>T (p.Glu1466Ter) SNV Pathogenic 560981 rs866783525 GRCh37: 1:103355079-103355079
GRCh38: 1:102889523-102889523
4 COL11A1 NM_001854.4(COL11A1):c.3438+2_3438+3del Microsatellite Pathogenic 619967 rs1557847904 GRCh37: 1:103404588-103404589
GRCh38: 1:102939032-102939033
5 COL11A1 NM_001854.4(COL11A1):c.1862_1870del (p.Gln621_Pro623del) Deletion Likely pathogenic 623158 rs1557932876 GRCh37: 1:103470193-103470201
GRCh38: 1:103004637-103004645
6 COL11A1 NM_001854.4(COL11A1):c.2972G>A (p.Gly991Asp) SNV Likely pathogenic 623159 rs1557877041 GRCh37: 1:103428261-103428261
GRCh38: 1:102962705-102962705
7 COL11A1 NM_001854.4(COL11A1):c.2754+5G>A SNV Likely pathogenic 374386 rs1057518666 GRCh37: 1:103444259-103444259
GRCh38: 1:102978703-102978703
8 COL11A1 NM_001854.4(COL11A1):c.1168G>T (p.Glu390Ter) SNV Likely pathogenic 973212 GRCh37: 1:103488375-103488375
GRCh38: 1:103022819-103022819
9 COL11A1 NM_001854.4(COL11A1):c.3115G>A (p.Gly1039Ser) SNV Likely pathogenic 929473 rs764282256 GRCh37: 1:103427475-103427475
GRCh38: 1:102961919-102961919
10 COL11A1 NM_001854.4(COL11A1):c.1684-1G>C SNV Likely pathogenic 1029385 GRCh37: 1:103471872-103471872
GRCh38: 1:103006316-103006316
11 COL11A1 NM_001854.4(COL11A1):c.4526A>C (p.Gln1509Pro) SNV Uncertain significance 382691 rs1057521422 GRCh37: 1:103354307-103354307
GRCh38: 1:102888751-102888751
12 COL11A1 NM_001854.4(COL11A1):c.1899+3A>G SNV Uncertain significance 291528 rs374676938 GRCh37: 1:103470161-103470161
GRCh38: 1:103004605-103004605
13 COL11A1 NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=) SNV Uncertain significance 166922 rs147637674 GRCh37: 1:103379193-103379193
GRCh38: 1:102913637-102913637
14 COL11A1 NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) SNV Uncertain significance 291505 rs200496207 GRCh37: 1:103364248-103364248
GRCh38: 1:102898692-102898692
15 COL11A1 NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) SNV Uncertain significance 198777 rs144884147 GRCh37: 1:103488522-103488522
GRCh38: 1:103022966-103022966
16 COL11A1 NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser) SNV Uncertain significance 93968 rs56230601 GRCh37: 1:103548420-103548420
GRCh38: 1:103082864-103082864
17 COL11A1 NM_001854.4(COL11A1):c.3473T>C (p.Val1158Ala) SNV Uncertain significance 291515 rs375675171 GRCh37: 1:103400635-103400635
GRCh38: 1:102935079-102935079
18 COL11A1 NM_001854.4(COL11A1):c.1568C>G (p.Ala523Gly) SNV Uncertain significance 989250 GRCh37: 1:103480071-103480071
GRCh38: 1:103014515-103014515
19 COL11A1 NM_001854.4(COL11A1):c.1031C>T (p.Thr344Met) SNV Uncertain significance 1027556 GRCh37: 1:103488512-103488512
GRCh38: 1:103022956-103022956
20 COL11A1 NM_001854.4(COL11A1):c.1314G>A (p.Met438Ile) SNV Uncertain significance 1027557 GRCh37: 1:103484410-103484410
GRCh38: 1:103018854-103018854
21 COL11A1 NM_001854.4(COL11A1):c.1926A>G (p.Arg642=) SNV Uncertain significance 681382 rs142506188 GRCh37: 1:103470018-103470018
GRCh38: 1:103004462-103004462
22 COL11A1 NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) SNV Uncertain significance 198474 rs183130583 GRCh37: 1:103491102-103491102
GRCh38: 1:103025546-103025546
23 COL11A1 NM_001854.4(COL11A1):c.489-4T>A SNV Uncertain significance 728988 rs371357098 GRCh37: 1:103540340-103540340
GRCh38: 1:103074784-103074784
24 COL11A1 NM_001854.4(COL11A1):c.478G>A (p.Ala160Thr) SNV Uncertain significance 876927 GRCh37: 1:103544224-103544224
GRCh38: 1:103078668-103078668
25 COL11A1 NM_001854.4(COL11A1):c.456C>T (p.Pro152=) SNV Uncertain significance 731001 rs751512442 GRCh37: 1:103544246-103544246
GRCh38: 1:103078690-103078690
26 COL11A1 NM_001854.4(COL11A1):c.-115C>T SNV Uncertain significance 876983 GRCh37: 1:103573849-103573849
GRCh38: 1:103108293-103108293
27 COL11A1 NM_001854.4(COL11A1):c.*1301T>C SNV Uncertain significance 876500 GRCh37: 1:103342274-103342274
GRCh38: 1:102876718-102876718
28 COL11A1 NM_001854.4(COL11A1):c.5275-9A>C SNV Uncertain significance 876585 GRCh37: 1:103343730-103343730
GRCh38: 1:102878174-102878174
29 COL11A1 NM_001854.4(COL11A1):c.5275-15T>C SNV Uncertain significance 876586 GRCh37: 1:103343736-103343736
GRCh38: 1:102878180-102878180
30 COL11A1 NM_001854.4(COL11A1):c.5223G>C (p.Glu1741Asp) SNV Uncertain significance 876587 GRCh37: 1:103345290-103345290
GRCh38: 1:102879734-102879734
31 COL11A1 NM_001854.4(COL11A1):c.4087-4A>G SNV Uncertain significance 514876 rs137999403 GRCh37: 1:103364554-103364554
GRCh38: 1:102898998-102898998
32 COL11A1 NM_001854.4(COL11A1):c.3424G>A (p.Asp1142Asn) SNV Uncertain significance 876729 GRCh37: 1:103404605-103404605
GRCh38: 1:102939049-102939049
33 COL11A1 NM_001854.4(COL11A1):c.781-17T>G SNV Uncertain significance 547200 rs1553239331 GRCh37: 1:103491905-103491905
GRCh38: 1:103026349-103026349
34 COL11A1 NM_001854.4(COL11A1):c.3923C>T (p.Pro1308Leu) SNV Uncertain significance 804698 rs769308801 GRCh37: 1:103380261-103380261
GRCh38: 1:102914705-102914705
35 COL11A1 NM_001854.4(COL11A1):c.1351-3T>A SNV Uncertain significance 874960 GRCh37: 1:103483441-103483441
GRCh38: 1:103017885-103017885
36 COL11A1 NM_001854.4(COL11A1):c.1341A>G (p.Ala447=) SNV Uncertain significance 875886 GRCh37: 1:103484383-103484383
GRCh38: 1:103018827-103018827
37 COL11A1 NM_001854.4(COL11A1):c.1263A>G (p.Ala421=) SNV Uncertain significance 875887 GRCh37: 1:103487308-103487308
GRCh38: 1:103021752-103021752
38 COL11A1 NM_001854.4(COL11A1):c.652-13T>G SNV Uncertain significance 875938 GRCh37: 1:103496813-103496813
GRCh38: 1:103031257-103031257
39 COL11A1 NM_001854.4(COL11A1):c.511G>A (p.Val171Met) SNV Uncertain significance 875940 GRCh37: 1:103540314-103540314
GRCh38: 1:103074758-103074758
40 COL11A1 NM_001854.4(COL11A1):c.*1535A>C SNV Uncertain significance 876498 GRCh37: 1:103342040-103342040
GRCh38: 1:102876484-102876484
41 COL11A1 NM_001854.4(COL11A1):c.2044G>A (p.Gly682Ser) SNV Uncertain significance 874900 GRCh37: 1:103468037-103468037
GRCh38: 1:103002481-103002481
42 COL11A1 NM_001854.4(COL11A1):c.1408G>C (p.Asp470His) SNV Uncertain significance 874959 GRCh37: 1:103483381-103483381
GRCh38: 1:103017825-103017825
43 COL11A1 NM_001854.4(COL11A1):c.871A>G (p.Thr291Ala) SNV Uncertain significance 874080 GRCh37: 1:103491798-103491798
GRCh38: 1:103026242-103026242
44 COL11A1 NM_001854.4(COL11A1):c.174G>A (p.Thr58=) SNV Uncertain significance 875067 GRCh37: 1:103548461-103548461
GRCh38: 1:103082905-103082905
45 COL11A1 NM_001854.4(COL11A1):c.*901T>C SNV Uncertain significance 875529 GRCh37: 1:103342674-103342674
GRCh38: 1:102877118-102877118
46 COL11A1 NM_001854.4(COL11A1):c.*876G>A SNV Uncertain significance 875530 GRCh37: 1:103342699-103342699
GRCh38: 1:102877143-102877143
47 COL11A1 NM_001854.4(COL11A1):c.*40C>A SNV Uncertain significance 875590 GRCh37: 1:103343535-103343535
GRCh38: 1:102877979-102877979
48 COL11A1 NM_001854.4(COL11A1):c.5402C>T (p.Pro1801Leu) SNV Uncertain significance 875591 GRCh37: 1:103343594-103343594
GRCh38: 1:102878038-102878038
49 COL11A1 NM_001854.4(COL11A1):c.3427A>C (p.Lys1143Gln) SNV Uncertain significance 637032 rs1182148061 GRCh37: 1:103404602-103404602
GRCh38: 1:102939046-102939046
50 COL11A1 NM_001854.4(COL11A1):c.*1230G>A SNV Uncertain significance 873606 GRCh37: 1:103342345-103342345
GRCh38: 1:102876789-102876789

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

72
# 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

Expression for Stickler Syndrome, Type Ii

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

Pathways for Stickler Syndrome, Type Ii

GO Terms for Stickler Syndrome, Type Ii

Sources for Stickler Syndrome, Type Ii

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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