STL2
MCID: STC013
MIFTS: 36

Stickler Syndrome, Type Ii (STL2)

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

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:

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

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

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 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

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
Bone, Tongue, Eye, Heart

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
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
8872475 1996
3
Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity. 56
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
17236192 2007
5
Clinical features of type 2 Stickler syndrome. 56
15286167 2004
6
Stickler Syndrome 6
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
10486316 1999
8
Marshall syndrome associated with a splicing defect at the COL11A1 locus. 56
9529347 1998
9
Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review. 61
32316871 2020
10
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes. 61
32427345 2020
11
Implant Digital Impression in the Esthetic Area. 61
30357992 2019
12
A fully digital approach to replicate functional and aesthetic parameters in implant-supported full-arch rehabilitation. 61
29191608 2018
13
A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures. 61
28971234 2018
14
A mild form of Stickler syndrome type II caused by mosaicism of COL11A1. 61
28315471 2017
15
A fully digital approach to replicate peri-implant soft tissue contours and emergence profile in the esthetic zone. 61
25907030 2016
16
[Role of soluble receptor ST2 measurment in diagnosis and prognostic stratification in patients with heart failure]. 61
26806499 2015
17
Transmembrane signaling in Saccharomyces cerevisiae as a model for signaling in metazoans: state of the art after 25 years. 61
25218923 2014
18
Testosterone ameliorates streptozotocin-induced memory impairment in male rats. 61
24902786 2014
19
Adaptive immunity restricts replication of novel murine astroviruses. 61
22951832 2012
20
A permease encoded by STL1 is required for active glycerol uptake by Candida albicans. 61
19383674 2009
21
Clinical features of the congenital vitreoretinopathies. 61
18309337 2008
22
Isolation of the salmonid rhamnose-binding lectin STL2 from spores of the microsporidian fish parasite Loma salmonae. 61
16159363 2005
23
Developmental expression of a sialyltransferase responsible for sialylation of cortical alveolus glycoprotein during oogenesis in rainbow trout (Oncorhynchus mykiss). 61
15496590 2004
24
Immunohistochemical localization of rhamnose-binding lectins in the steelhead trout (Oncorhynchus mykiss). 61
12031414 2002
25
Tissue-specific expression of rhamnose-binding lectins in the steelhead trout (Oncorhynchus mykiss). 61
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
12162558 2002
27
Rhamnose-binding lectins from steelhead trout (Oncorhynchus mykiss) eggs recognize bacterial lipopolysaccharides and lipoteichoic acid. 61
12005056 2002
28
A novel rhamnose-binding lectin family from eggs of steelhead trout (Oncorhynchus mykiss) with different structures and tissue distribution. 61
11471732 2001
29
Hearing loss in the nonocular Stickler syndrome caused by a COL11A2 mutation. 61
10718438 2000
30
The type XI collagenopathies. 61
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
9668106 1998
32
Molecular cloning and characterization of two novel isoforms of the small subunit of ADPglucose pyrophosphorylase from sweet potato. 61
9108280 1997
33
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 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+3delshort 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-TGdeletion Pathogenic 17135
5 COL11A1 NM_001854.4(COL11A1):c.2754+5G>ASNV 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>GSNV 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>ASNV 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>CSNV 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>TSNV Conflicting interpretations of pathogenicity 291481 rs143875783 1:103342766-103342766 1:102877210-102877210
27 COL11A1 NM_001854.4(COL11A1):c.*1227T>ASNV Conflicting interpretations of pathogenicity 291475 rs538679983 1:103342348-103342348 1:102876792-102876792
28 COL11A1 NM_001854.4(COL11A1):c.*579A>GSNV Conflicting interpretations of pathogenicity 291486 rs536837264 1:103342996-103342996 1:102877440-102877440
29 COL11A1 NM_001854.4(COL11A1):c.*1203G>ASNV Conflicting interpretations of pathogenicity 291476 rs190577885 1:103342372-103342372 1:102876816-102876816
30 COL11A1 NM_001854.4(COL11A1):c.*508G>ASNV 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>GSNV 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>GSNV Conflicting interpretations of pathogenicity 291528 rs374676938 1:103470161-103470161 1:103004605-103004605
41 COL11A1 NM_001854.4(COL11A1):c.1630-13T>CSNV 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>CSNV 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>GSNV 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

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

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