OSMEDA
MCID: OTS014
MIFTS: 52

Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant (OSMEDA)

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

Aliases & Classifications for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

MalaCards integrated aliases for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:

Name: Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 56 12 25 73 29 6
Weissenbacher-Zweymuller Syndrome 56 12 74 52 54 15 39
Pierre Robin Syndrome with Fetal Chondrodysplasia 52 25 73 71
Wzs 56 52 25 73
Weissenbacher-Zweymüller Syndrome 52 25
Stickler Syndrome, Type Iii 13 39
Heterozygous Osmed 25 73
Osmeda 56 73
Pierre Robin Syndrome with Fetal Chondrodysplasia Stickler Syndrome, Nonocular Type, Formerly 56
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia 58
Stickler Syndrome, Type Iii, Formerly; Stl3, Formerly 56
Heterozygous Otospondylomegaepiphyseal Dysplasia 25
Weissenbacher-Zweymuller Syndrome; Wzs 56
Stickler Syndrome, Type Iii, Formerly 56
Stickler Syndrome, Non-Ocular Type 58
Weissenbacher-Zweymueller Syndrome 73
Stickler Syndrome Non-Ocular Type 73
Stickler Syndrome Type Iii 73
Pierre Robin Malformation 12
Stickler Syndrome, Type 3 71
Stickler Syndrome Type 3 58
Stickler-Like Syndrome 73
Pierre Robin Syndrome 43
Piere-Robin Syndrome 12
Osmed, Heterozygous 56
Stickler Syndrome 3 73
Stl3, Formerly 56
Ad Osmed 58
Stl3 73

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
allelic to osmed and weissenbacher-zweymuller syndrome
also called 'heterozygous osmed' and 'autosomal dominant osmed'


HPO:

31
otospondylomegaepiphyseal dysplasia, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0080677 DOID:4258
OMIM 56 184840
OMIM Phenotypic Series 56 PS184840
NCIt 49 C85010
SNOMED-CT 67 4602007
ICD10 32 Q87.0
MESH via Orphanet 44 C537494
UMLS via Orphanet 72 C1861481
Orphanet 58 ORPHA166100
UMLS 71 C0031900 C1848488 C1861481

Summaries for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Genetics Home Reference : 25 Weissenbacher-Zweymüller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. The features of this condition significantly overlap those of two similar conditions, otospondylomegaepiphyseal dysplasia (OSMED) and Stickler syndrome type III. All of these conditions are caused by mutations in the same gene, and in some cases, it can be difficult to tell them apart. Some researchers believe they represent a single disorder with a range of signs and symptoms. Infants born with Weissenbacher-Zweymüller syndrome are smaller than average because the bones in their arms and legs are unusually short. The thigh and upper arm bones are wider than usual at the ends (described as dumbbell-shaped), and the bones of the spine (vertebrae) may also be abnormally shaped. High-frequency hearing loss occurs in some cases. Distinctive facial features include wide-set protruding eyes, a small and upturned nose with a flat bridge, and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth (a cleft palate). Most people with Weissenbacher-Zweymüller syndrome experience significant "catch-up" growth in the bones of the arms and legs during childhood. As a result, adults with this condition are not unusually short. However, affected adults still have other signs and symptoms of Weissenbacher-Zweymüller syndrome, including distinctive facial features and hearing loss.

MalaCards based summary : Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant, also known as weissenbacher-zweymuller syndrome, is related to otospondylomegaepiphyseal dysplasia, autosomal recessive and vitreoretinal degeneration, and has symptoms including arthralgia An important gene associated with Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant is COL11A2 (Collagen Type XI Alpha 2 Chain), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. The drugs Cobalt and Levobupivacaine have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are sensorineural hearing impairment and arthralgia

Disease Ontology : 12 An osteochondrodysplasia that results in shortened long bones and distinct facial abnormalities.

OMIM : 56 Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994). (184840)

UniProtKB/Swiss-Prot : 73 Otospondylomegaepiphyseal dysplasia, autosomal dominant: An autosomal dominant form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis.

Wikipedia : 74 Weissenbacher-Zweymuller syndrome (WZS), also called Pierre-Robin syndrome with fetal chondrodysplasia,... more...

Related Diseases for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Diseases in the Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant family:

Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Diseases related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 192)
# Related Disease Score Top Affiliating Genes
1 otospondylomegaepiphyseal dysplasia, autosomal recessive 31.1 TECTB COL9A1 COL5A2 COL2A1 COL11A2 COL11A1
2 vitreoretinal degeneration 30.9 COL2A1 COL11A1
3 cleft palate, isolated 30.7 COL9A1 COL2A1 COL11A2 COL11A1
4 cleft soft palate 30.1 COL2A1 COL11A2 COL11A1
5 strabismus 30.1 COL9A1 COL2A1 COL11A1
6 hypochondrogenesis 30.1 COL9A1 COL2A1
7 macroglossia 30.0 COL9A1 COL2A1 COL11A1
8 achondrogenesis 30.0 COL9A1 COL2A1
9 retinal detachment 29.9 COL9A1 COL2A1 COL11A1
10 stickler syndrome 29.8 COL9A1 COL5A2 COL2A1 COL11A2 COL11A1
11 myopia 29.6 COL9A1 COL2A1 COL11A2 COL11A1
12 multiple epiphyseal dysplasia 29.4 COL9A1 COL2A1 COL11A2 COL11A1
13 sensorineural hearing loss 29.0 TECTB COL2A1 COL11A2 COL11A1 CEACAM16
14 catel-manzke syndrome 12.6
15 pierre robin syndrome and oligodactyly 12.5
16 pierre robin syndrome skeletal dysplasia polydactyly 12.4
17 pierre robin syndrome associated with collagen disease 12.4
18 pierre robin syndrome associated with a chromosomal anomaly 12.4
19 rare disease with pierre robin syndrome 12.4
20 pierre robin syndrome associated with bone disease 12.4
21 pierre robin syndrome associated with branchial archs anomalies 12.4
22 teratogenic pierre robin syndrome 12.4
23 sucking/swallowing disorder not related with pierre robin syndrome 12.4
24 genetic syndromic pierre robin syndrome 12.4
25 contractures-developmental delay-pierre robin syndrome 12.4
26 tarp syndrome 12.2
27 isolated pierre robin sequence 11.9
28 carey-fineman-ziter syndrome 11.5
29 robin sequence with cleft mandible and limb anomalies 11.4
30 pierre robin sequence with facial and digital anomalies 11.4
31 robin sequence with distinctive facial appearance and brachydactyly 11.4
32 chitayat meunier hodgkinson syndrome 11.4
33 hypoglossia-hypodactylia 11.4
34 diamond-blackfan anemia 1 11.4
35 atelosteogenesis, type i 11.4
36 diamond-blackfan anemia 14 with mandibulofacial dysostosis 11.4
37 diamond-blackfan anemia 15 with mandibulofacial dysostosis 11.4
38 diamond-blackfan anemia 3 11.4
39 diamond-blackfan anemia 4 11.4
40 diamond-blackfan anemia 5 11.4
41 diamond-blackfan anemia 6 11.4
42 diamond-blackfan anemia 7 11.4
43 diamond-blackfan anemia 8 11.4
44 diamond-blackfan anemia 9 11.4
45 diamond-blackfan anemia 10 11.4
46 diamond-blackfan anemia 11 11.4
47 diamond-blackfan anemia 12 11.4
48 diamond-blackfan anemia 13 11.4
49 diamond-blackfan anemia 16 11.4
50 diamond-blackfan anemia 17 11.4

Graphical network of the top 20 diseases related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:



Diseases related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Symptoms & Phenotypes for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Human phenotypes related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
2 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
3 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
4 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
5 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
6 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
7 glossoptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000162
8 osteoarthritis 58 31 frequent (33%) Frequent (79-30%) HP:0002758
9 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
10 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
11 exostoses 58 31 occasional (7.5%) Occasional (29-5%) HP:0100777
12 abnormal metacarpal morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005916
13 anteverted nares 31 HP:0000463
14 epiphyseal dysplasia 31 HP:0002656
15 abnormality of the eye 31 HP:0000478
16 platyspondyly 31 HP:0000926
17 midface retrusion 31 HP:0011800
18 pierre-robin sequence 31 HP:0000201
19 enlarged epiphyses 31 HP:0010580
20 premature osteoarthritis 31 HP:0003088

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
anteverted nares

Head And Neck Mouth:
cleft palate
pierre-robin sequence

Head And Neck Face:
midface hypoplasia

Skeletal Spine:
mild platyspondyly

Skeletal:
epiphyseal dysplasia

Skeletal Limbs:
premature osteoarthritis
joint pain
large epiphyses

Head And Neck Ears:
sensorineural hearing loss

Head And Neck Eyes:
no ocular symptoms

Clinical features from OMIM:

184840

UMLS symptoms related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:


arthralgia

MGI Mouse Phenotypes related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.17 CEACAM16 COL11A1 COL11A2 COL2A1 COL9A1 OTOG

Drugs & Therapeutics for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Drugs for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cobalt Approved, Experimental Phase 1 7440-48-4 104729
2
Levobupivacaine Approved, Investigational 27262-47-1 92253
3
Ropivacaine Approved 84057-95-4 71273 175805
4
Temazepam Approved, Investigational 846-50-4 5391
5
Threonine Approved, Nutraceutical 72-19-5 6288
6 Analgesics

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 A Comparison Between Two Video Laryngoscopes,the Truview PCD and the Glidescope Cobalt AVL, in Successfully Intubating Pediatric Mannequins With and Without Difficult Airways Completed NCT02198742 Phase 1
2 Postoperative Complications After Cleft Palate Closure in Patients With Pierre Robin Sequence: Operative Considerations Completed NCT02658318
3 Predictive Modeling for Treatment of Upper Airway Obstruction in Young Children Completed NCT01690078
4 Cohort Study on Prevalence and Early Treatment Outcomes in Pierre-Robin-Like Phenotype Completed NCT02266043
5 Usefulness of Cephalometry in the Second and Third Trimester of Pregnancy in the Diagnosis of Fetal Microretrognathia : Prenatal Cephal Completed NCT04422067
6 Impact of Phonatory and Facial Morphology Disorders, on the Quality of Life of Adolescents With Pierre Robin Sequence Recruiting NCT03194178
7 Evaluation of Postoperative Analgesic Effects of Infraorbital Nerve Block by Levobupivacaine vs Ropivacaine After Cleft Palate Surgery: A Double-blinded Randomized Trial Recruiting NCT04212611 INFRA ORBITAL BLOCK
8 Brainstem Dysfunction Involvement in the Pathogenesis of Pierre Robin Sequence Recruiting NCT03423017
9 A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months Enrolling by invitation NCT02364843
10 Analysis of Muscle Activity With Myofunctional Devices, Using Surface Electromyography Not yet recruiting NCT03863275
11 Comparative Study Between Internal and External Distraction Osteogenesis in Lower Face Asymmetry Not yet recruiting NCT03540329
12 Pierre Robin Sequence Outcome Assessment Multi Institutional Study (PROMIS) Withdrawn NCT02432638

Search NIH Clinical Center for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Cochrane evidence based reviews: pierre robin syndrome

Genetic Tests for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Genetic tests related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 29 COL11A2

Anatomical Context for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

MalaCards organs/tissues related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:

40
Bone, Eye

Publications for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Articles related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:

(show all 15)
# Title Authors PMID Year
1
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). 54 56 6
9805126 1998
2
A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome. 56 6
15372529 2004
3
Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen. 56 6
9506662 1998
4
A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. 6 56
7833911 1994
5
[SIMULTANEOUS OCCURRANCE OF THE PIERRE ROBIN SYNDROME AND FETAL CHONDRODYSPLASIA]. 6 56
14234962 1964
6
The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth. 56 61
813535 1975
7
Stickler Syndrome 6
20301479 2000
8
The type XI collagenopathies. 56
9799295 1998
9
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. 56
7859284 1995
10
Oto-spondylo-megaepiphyseal dysplasia (OSMED). 56
7153059 1982
11
COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED). 61 54
15558753 2005
12
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. 61
25633957 2015
13
Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report. 61
18950500 2008
14
The ocular manifestations of Weissenbacher-Zweymuller syndrome. 61
15044941 2004
15
Weissenbacher-Zweymuller syndrome: long-term follow-up of growth and psychomotor development. 61
1723388 1991

Variations for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

ClinVar genetic disease variations for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:

6 (show top 50) (show all 160) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL11A2 NM_080680.3(COL11A2):c.4465G>A (p.Gly1489Ser)SNV Pathogenic 694708 6:33133725-33133725 6:33165948-33165948
2 COL2A1 NM_001844.5(COL2A1):c.3714C>A (p.Tyr1238Ter)SNV Pathogenic 694704 12:48369272-48369272 12:47975489-47975489
3 COL2A1 NM_001844.5(COL2A1):c.1129G>A (p.Ala377Thr)SNV Pathogenic 694725 12:48381486-48381486 12:47987703-47987703
4 COL11A2 NM_080680.3(COL11A2):c.4392+1G>ASNV Pathogenic 17120 rs750995470 6:33134289-33134289 6:33166512-33166512
5 COL11A2 NM_080680.3(COL11A2):c.2822_2848del (p.Glu941_Pro950delinsAla)deletion Pathogenic 17122 rs864309477 6:33140357-33140383 6:33172580-33172606
6 COL11A2 NM_080680.3(COL11A2):c.4322G>A (p.Gly1441Glu)SNV Pathogenic 17123 rs121912946 6:33134513-33134513 6:33166736-33166736
7 COL11A2 NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter)SNV Likely pathogenic 17127 rs121912950 6:33135082-33135082 6:33167305-33167305
8 COL11A2 NM_080680.3(COL11A2):c.4231-4C>GSNV Conflicting interpretations of pathogenicity 904453 6:33134608-33134608 6:33166831-33166831
9 COL11A2 NM_080680.3(COL11A2):c.-82C>GSNV Conflicting interpretations of pathogenicity 907531 6:33160099-33160099 6:33192322-33192322
10 COL11A2 NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)SNV Conflicting interpretations of pathogenicity 46556 rs145499142 6:33146747-33146747 6:33178970-33178970
11 COL11A2 NM_080680.3(COL11A2):c.1782C>T (p.Asp594=)SNV Conflicting interpretations of pathogenicity 46557 rs41266697 6:33146121-33146121 6:33178344-33178344
12 COL11A2 NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=)SNV Conflicting interpretations of pathogenicity 178325 rs147576338 6:33137844-33137844 6:33170067-33170067
13 COL11A2 NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=)SNV Conflicting interpretations of pathogenicity 178326 rs138380958 6:33138109-33138109 6:33170332-33170332
14 COL11A2 NM_080680.3(COL11A2):c.2682G>A (p.Pro894=)SNV Conflicting interpretations of pathogenicity 178327 rs113067047 6:33141279-33141279 6:33173502-33173502
15 COL11A2 NM_080680.3(COL11A2):c.1287C>T (p.Gly429=)SNV Conflicting interpretations of pathogenicity 162993 rs549704545 6:33148107-33148107 6:33180330-33180330
16 COL11A2 NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro)SNV Conflicting interpretations of pathogenicity 162997 rs41268014 6:33156845-33156845 6:33189068-33189068
17 COL11A2 NM_080680.3(COL11A2):c.1698C>T (p.Leu566=)SNV Conflicting interpretations of pathogenicity 809916 6:33146477-33146477 6:33178700-33178700
18 COL11A2 NM_080680.3(COL11A2):c.5088G>A (p.Thr1696=)SNV Conflicting interpretations of pathogenicity 504742 rs142893093 6:33131578-33131578 6:33163801-33163801
19 COL11A2 NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln)SNV Conflicting interpretations of pathogenicity 505075 rs781633250 6:33131582-33131582 6:33163805-33163805
20 COL11A2 NM_080680.3(COL11A2):c.-21C>GSNV Conflicting interpretations of pathogenicity 515825 rs767695417 6:33160038-33160038 6:33192261-33192261
21 COL11A2 NM_080680.3(COL11A2):c.2709G>A (p.Pro903=)SNV Conflicting interpretations of pathogenicity 513695 rs779878105 6:33141152-33141152 6:33173375-33173375
22 COL11A2 NM_080680.3(COL11A2):c.2220G>A (p.Glu740=)SNV Conflicting interpretations of pathogenicity 547218 rs202032297 6:33143841-33143841 6:33176064-33176064
23 COL11A2 NM_080680.3(COL11A2):c.2254G>A (p.Val752Met)SNV Conflicting interpretations of pathogenicity 561277 rs201076557 6:33143807-33143807 6:33176030-33176030
24 COL11A2 NM_080680.3(COL11A2):c.579C>T (p.Ala193=)SNV Conflicting interpretations of pathogenicity 681633 6:33156166-33156166 6:33188389-33188389
25 COL11A2 NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys)SNV Conflicting interpretations of pathogenicity 907893 6:33137252-33137252 6:33169475-33169475
26 COL11A2 NM_080680.3(COL11A2):c.4983C>T (p.Asp1661=)SNV Conflicting interpretations of pathogenicity 906636 6:33132131-33132131 6:33164354-33164354
27 COL11A2 NM_080680.3(COL11A2):c.622C>T (p.Leu208=)SNV Conflicting interpretations of pathogenicity 906471 6:33154580-33154580 6:33186803-33186803
28 COL11A2 NM_080680.3(COL11A2):c.191G>A (p.Arg64Gln)SNV Conflicting interpretations of pathogenicity 904929 6:33157138-33157138 6:33189361-33189361
29 COL11A2 NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln)SNV Conflicting interpretations of pathogenicity 162981 rs142890313 6:33135285-33135285 6:33167508-33167508
30 COL11A2 NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val)SNV Conflicting interpretations of pathogenicity 178927 rs376797260 6:33140133-33140133 6:33172356-33172356
31 COL11A2 NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=)SNV Conflicting interpretations of pathogenicity 162976 rs34055850 6:33133393-33133393 6:33165616-33165616
32 COL11A2 NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln)SNV Conflicting interpretations of pathogenicity 198337 rs145343609 6:33133424-33133424 6:33165647-33165647
33 COL11A2 NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=)SNV Conflicting interpretations of pathogenicity 198356 rs140017436 6:33132155-33132155 6:33164378-33164378
34 COL11A2 NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp)SNV Conflicting interpretations of pathogenicity 225318 rs141430703 6:33154514-33154514 6:33186737-33186737
35 COL11A2 NM_080680.3(COL11A2):c.4751-9A>GSNV Conflicting interpretations of pathogenicity 227272 rs555680585 6:33132750-33132750 6:33164973-33164973
36 COL11A2 NM_080680.3(COL11A2):c.4383C>T (p.Pro1461=)SNV Conflicting interpretations of pathogenicity 226537 rs148262058 6:33134299-33134299 6:33166522-33166522
37 COL11A2 NM_080680.3(COL11A2):c.1819-10G>ASNV Conflicting interpretations of pathogenicity 226532 rs3129202 6:33145972-33145972 6:33178195-33178195
38 COL11A2 NM_080680.3(COL11A2):c.1612-10G>CSNV Conflicting interpretations of pathogenicity 227260 rs182657680 6:33146760-33146760 6:33178983-33178983
39 COL11A2 NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu)SNV Conflicting interpretations of pathogenicity 228526 rs201399429 6:33154450-33154450 6:33186673-33186673
40 COL11A2 NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp)SNV Conflicting interpretations of pathogenicity 356383 rs141254777 6:33133425-33133425 6:33165648-33165648
41 COL11A2 NM_080680.3(COL11A2):c.4586C>T (p.Pro1529Leu)SNV Conflicting interpretations of pathogenicity 356384 rs201315111 6:33133490-33133490 6:33165713-33165713
42 COL11A2 NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=)SNV Conflicting interpretations of pathogenicity 356390 rs146962984 6:33137644-33137644 6:33169867-33169867
43 COL11A2 NM_080680.3(COL11A2):c.5071-7C>GSNV Conflicting interpretations of pathogenicity 262312 rs200548977 6:33131602-33131602 6:33163825-33163825
44 COL11A2 NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu)SNV Conflicting interpretations of pathogenicity 356395 rs528009333 6:33139548-33139548 6:33171771-33171771
45 COL11A2 NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe)SNV Conflicting interpretations of pathogenicity 356402 rs188490457 6:33144068-33144068 6:33176291-33176291
46 COL11A2 NM_080680.3(COL11A2):c.*706G>TSNV Conflicting interpretations of pathogenicity 356374 rs548143581 6:33130749-33130749 6:33162972-33162972
47 COL11A2 NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu)SNV Conflicting interpretations of pathogenicity 356407 rs201179101 6:33148754-33148754 6:33180977-33180977
48 COL11A2 NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu)SNV Conflicting interpretations of pathogenicity 356389 rs534570825 6:33137233-33137233 6:33169456-33169456
49 COL11A2 NM_080680.3(COL11A2):c.1818+15G>ASNV Conflicting interpretations of pathogenicity 356405 rs549588854 6:33146070-33146070 6:33178293-33178293
50 COL11A2 NM_080680.3(COL11A2):c.*822C>GSNV Conflicting interpretations of pathogenicity 356373 rs536130072 6:33130633-33130633 6:33162856-33162856

UniProtKB/Swiss-Prot genetic disease variations for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:

73
# Symbol AA change Variation ID SNP ID
1 COL11A2 p.Gly1441Glu VAR_013595 rs121912946

Expression for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Search GEO for disease gene expression data for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant.

Pathways for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Pathways related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 COL9A1 COL5A2 COL2A1 COL11A2 COL11A1
2
Show member pathways
12.61 COL9A1 COL5A2 COL2A1 COL11A2 COL11A1
3
Show member pathways
12.42 COL9A1 COL5A2 COL2A1 COL11A2 COL11A1
4
Show member pathways
12.08 COL9A1 COL5A2 COL2A1 COL11A2 COL11A1
5
Show member pathways
11.67 COL9A1 COL5A2 COL2A1 COL11A2 COL11A1
6 10.46 COL9A1 COL5A2 COL2A1 COL11A2 COL11A1

GO Terms for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Cellular components related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.92 TECTB OTOG COL9A1 COL5A2 COL2A1 COL11A2
2 collagen-containing extracellular matrix GO:0062023 9.77 COL9A1 COL5A2 COL2A1 COL11A2 COL11A1
3 extracellular space GO:0005615 9.76 TECTB OTOG COL9A1 COL5A2 COL2A1 COL11A2
4 endoplasmic reticulum lumen GO:0005788 9.65 COL9A1 COL5A2 COL2A1 COL11A2 COL11A1
5 collagen type XI trimer GO:0005592 9.4 COL11A2 COL11A1
6 collagen trimer GO:0005581 9.35 COL9A1 COL5A2 COL2A1 COL11A2 COL11A1
7 extracellular matrix GO:0031012 9.17 TECTB OTOG COL9A1 COL5A2 COL2A1 COL11A2

Biological processes related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.61 COL5A2 COL2A1 COL11A2
2 ossification GO:0001503 9.58 COL5A2 COL2A1 COL11A1
3 extracellular matrix organization GO:0030198 9.55 COL9A1 COL5A2 COL2A1 COL11A2 COL11A1
4 roof of mouth development GO:0060021 9.54 COL2A1 COL11A2
5 inner ear morphogenesis GO:0042472 9.52 COL2A1 COL11A1
6 heart morphogenesis GO:0003007 9.51 COL2A1 COL11A1
7 cartilage development GO:0051216 9.5 COL2A1 COL11A2 COL11A1
8 chondrocyte differentiation GO:0002062 9.49 COL2A1 COL11A2
9 tissue homeostasis GO:0001894 9.48 COL2A1 COL11A2
10 cartilage condensation GO:0001502 9.46 COL2A1 COL11A1
11 skeletal system morphogenesis GO:0048705 9.43 COL2A1 COL11A2 COL11A1
12 proteoglycan metabolic process GO:0006029 9.37 COL2A1 COL11A1
13 collagen fibril organization GO:0030199 9.26 COL5A2 COL2A1 COL11A2 COL11A1
14 sensory perception of sound GO:0007605 9.02 OTOG COL2A1 COL11A2 COL11A1 CEACAM16

Molecular functions related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.43 TECTB COL9A1 COL5A2 COL2A1 COL11A2 COL11A1
2 protein binding, bridging GO:0030674 9.16 COL11A2 COL11A1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.02 COL9A1 COL5A2 COL2A1 COL11A2 COL11A1

Sources for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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