MCID: TYP042
MIFTS: 12

Type Ii Collagen Disorders

Aliases & Classifications for Type Ii Collagen Disorders

MalaCards integrated aliases for Type Ii Collagen Disorders:

Name: Type Ii Collagen Disorders 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance in type ii collagen disorders is high, if not complete; only rare cases of apparently reduced penetrance have been reported [barat-houari et al 2016b]. however, the milder disorders have age-dependent phenotypic manifestations, and wide inter- and intrafamilial phenotypic variation has been reported [liberfarb et al 2003, nakashima et al 2016]. at present, knowledge of underlying mechanisms is limited, but the phenotypic variation is likely caused by environmental factors and the polymorphisms in disease-modifying genes and/or regulatory elements [bell et al 1997, bi et al 1999, liberfarb et al 2003, kannu et al 2010, nakashima et al 2016, yasuda et al 2017].

Summaries for Type Ii Collagen Disorders

MalaCards based summary : Type Ii Collagen Disorders is related to familial avascular necrosis of the femoral head and skeletal dysplasias. An important gene associated with Type Ii Collagen Disorders is COL2A1 (Collagen Type II Alpha 1 Chain). Related phenotype is hearing/vestibular/ear.

GeneReviews: NBK540447

Related Diseases for Type Ii Collagen Disorders

Graphical network of the top 20 diseases related to Type Ii Collagen Disorders:



Diseases related to Type Ii Collagen Disorders

Symptoms & Phenotypes for Type Ii Collagen Disorders

MGI Mouse Phenotypes related to Type Ii Collagen Disorders:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 COL2A1 TRPV4

Drugs & Therapeutics for Type Ii Collagen Disorders

Search Clinical Trials , NIH Clinical Center for Type Ii Collagen Disorders

Genetic Tests for Type Ii Collagen Disorders

Anatomical Context for Type Ii Collagen Disorders

Publications for Type Ii Collagen Disorders

Articles related to Type Ii Collagen Disorders:

(show all 42)
# Title Authors PMID Year
1
Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders. 38 4
30696995 2019
2
Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia. 4
30048634 2018
3
Best practices in peri-operative management of patients with skeletal dysplasias. 4
28763154 2017
4
A Novel Regulatory Mechanism of Type II Collagen Expression via a SOX9-dependent Enhancer in Intron 6. 4
27881681 2017
5
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. 4
26626311 2016
6
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies. 4
26443184 2016
7
Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling. 4
26358419 2016
8
A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity. 4
27274858 2016
9
Nosology and classification of genetic skeletal disorders: 2015 revision. 4
26394607 2015
10
Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia. 4
25060605 2015
11
Ophthalmic and molecular genetic findings in Kniest dysplasia. 4
25592122 2015
12
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. 4
25604898 2015
13
Hearing impairment in Stickler syndrome: a systematic review. 4
23110709 2012
14
Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of COL2A1 in two sibs from phenotypically normal parents. 4
22711552 2012
15
Mosaicism in Stickler syndrome. 4
22522174 2012
16
Somatic mosaicism and the phenotypic expression of COL2A1 mutations. 4
22496037 2012
17
Clinical phenotypes associated with type II collagen mutations. 4
21332586 2012
18
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. 4
21921955 2011
19
Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation. 4
21442341 2011
20
Stickler syndrome in Pierre-Robin sequence prenatal ultrasonographic diagnosis and postnatal therapy: two cases report. 4
21375138 2010
21
Premature arthritis is a distinct type II collagen phenotype. 4
20131279 2010
22
Fetal MR imaging of Kniest dysplasia. 4
20020120 2010
23
Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calvé-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1. 4
18512791 2008
24
Czech dysplasia metatarsal type: another type II collagen disorder. 4
17726487 2007
25
COL2A1-related skeletal dysplasias with predominant metaphyseal involvement. 4
17163530 2007
26
High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. 4
16752401 2006
27
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene. 4
16155195 2006
28
Hypochondrogenesis. 4
16432703 2006
29
Stickler syndrome: clinical characteristics and diagnostic criteria. 4
16152640 2005
30
The phenotypic spectrum of COL2A1 mutations. 4
15895462 2005
31
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. 4
15316962 2004
32
Czech dysplasia metatarsal type. 4
15266623 2004
33
Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes. 4
14730409 2004
34
Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. 4
14729840 2004
35
The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. 4
12544472 2003
36
Prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndrome. 4
12124689 2002
37
Auditory dysfunction in Stickler syndrome. 4
11556853 2001
38
The hip in Stickler syndrome. 4
11521037 2001
39
Sox9 is required for cartilage formation. 4
10319868 1999
40
SOX9 directly regulates the type-II collagen gene. 4
9171829 1997
41
Type II Collagen Disorders Overview 38
31021589 2019
42
Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update. 38
1563395 1992

Variations for Type Ii Collagen Disorders

Expression for Type Ii Collagen Disorders

Search GEO for disease gene expression data for Type Ii Collagen Disorders.

Pathways for Type Ii Collagen Disorders

GO Terms for Type Ii Collagen Disorders

Biological processes related to Type Ii Collagen Disorders according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cartilage development involved in endochondral bone morphogenesis GO:0060351 8.62 TRPV4 COL2A1

Molecular functions related to Type Ii Collagen Disorders according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.62 TRPV4 COL2A1

Sources for Type Ii Collagen Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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