OSMEDA
MCID: OTS014
MIFTS: 51

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 57 12 43 72 29 6 15
Weissenbacher-Zweymuller Syndrome 57 12 73 20 54 15 39
Pierre Robin Syndrome with Fetal Chondrodysplasia 20 43 72 70
Wzs 57 20 43 72
Weissenbacher-Zweymüller Syndrome 20 43
Stickler Syndrome, Type Iii 13 39
Heterozygous Osmed 43 72
Osmeda 57 72
Pierre Robin Syndrome with Fetal Chondrodysplasia Stickler Syndrome, Nonocular Type, Formerly 57
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia 58
Stickler Syndrome, Type Iii, Formerly; Stl3, Formerly 57
Heterozygous Otospondylomegaepiphyseal Dysplasia 43
Weissenbacher-Zweymuller Syndrome; Wzs 57
Stickler Syndrome, Type Iii, Formerly 57
Stickler Syndrome, Non-Ocular Type 58
Weissenbacher-Zweymueller Syndrome 72
Stickler Syndrome Non-Ocular Type 72
Stickler Syndrome Type Iii 72
Pierre Robin Malformation 12
Pierre-Robin Malformation 6
Stickler Syndrome, Type 3 70
Stickler Syndrome Type 3 58
Stickler-Like Syndrome 72
Pierre Robin Syndrome 44
Piere-Robin Syndrome 12
Osmed, Heterozygous 57
Stickler Syndrome 3 72
Stl3, Formerly 57
Ad Osmed 58
Stl3 72

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 184840
OMIM Phenotypic Series 57 PS184840
NCIt 50 C85010
SNOMED-CT 67 156908005
ICD10 32 Q87.0
MESH via Orphanet 45 C537494
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 71 C1861481
Orphanet 58 ORPHA166100
UMLS 70 C0031900 C1848488 C1861481

Summaries for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

MedlinePlus Genetics : 43 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 isolated pierre robin sequence and otospondylomegaepiphyseal dysplasia, autosomal recessive, 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 Phospholipase-C Pathway and Focal Adhesion. The drugs Temazepam and Threonine have been mentioned in the context of this disorder. Affiliated tissues include eye and heart, and related phenotypes are sensorineural hearing impairment and cleft palate

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

OMIM® : 57 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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 187)
# Related Disease Score Top Affiliating Genes
1 isolated pierre robin sequence 32.3 SNRPB MED13L EBF3
2 otospondylomegaepiphyseal dysplasia, autosomal recessive 31.9 COL9A1 COL2A1 COL11A2 COL11A1
3 cleft palate, isolated 30.9 COL9A1 COL2A1 COL11A2 COL11A1
4 stickler syndrome, type i 30.6 COL2A1 COL11A1
5 vitreoretinal degeneration 30.6 COL2A1 COL11A1
6 pierre robin syndrome 30.4 SNRPB MED13L EBF3
7 cleft soft palate 30.2 COL11A2 COL11A1
8 macroglossia 30.1 COL9A1 COL2A1 COL11A1
9 retinal detachment 30.0 COL9A1 COL2A1 COL11A1
10 hypochondrogenesis 30.0 COL9A1 COL2A1
11 strabismus 29.9 MED13L COL9A1 COL2A1 COL11A1
12 myopia 29.9 COL9A1 COL2A1 COL11A2 COL11A1
13 achondrogenesis 29.6 COL9A1 COL2A1 COL11A2 COL11A1
14 multiple epiphyseal dysplasia 29.6 COL9A1 COL2A1 COL11A2 COL11A1
15 stickler syndrome 29.1 TECTB TECTA COL9A1 COL5A2 COL2A1 COL11A2
16 sensorineural hearing loss 29.0 TECTB TECTA COL2A1 COL11A2 COL11A1 CEACAM16
17 catel-manzke syndrome 11.9
18 tarp syndrome 11.7
19 pierre robin syndrome and oligodactyly 11.4
20 carey-fineman-ziter syndrome 11.3
21 pierre robin syndrome skeletal dysplasia polydactyly 11.3
22 robin sequence with cleft mandible and limb anomalies 11.2
23 pierre robin sequence with facial and digital anomalies 11.2
24 robin sequence with distinctive facial appearance and brachydactyly 11.2
25 chitayat meunier hodgkinson syndrome 11.2
26 pierre robin syndrome associated with collagen disease 11.2
27 pierre robin syndrome associated with a chromosomal anomaly 11.2
28 rare disease with pierre robin syndrome 11.2
29 pierre robin syndrome associated with bone disease 11.2
30 pierre robin syndrome associated with branchial archs anomalies 11.2
31 teratogenic pierre robin syndrome 11.2
32 sucking/swallowing disorder not related with pierre robin syndrome 11.2
33 genetic syndromic pierre robin syndrome 11.2
34 contractures-developmental delay-pierre robin syndrome 11.2
35 hypoglossia-hypodactylia 11.2
36 diamond-blackfan anemia 1 11.2
37 atelosteogenesis, type i 11.2
38 diamond-blackfan anemia 14 with mandibulofacial dysostosis 11.2
39 diamond-blackfan anemia 15 with mandibulofacial dysostosis 11.2
40 diamond-blackfan anemia 3 11.2
41 diamond-blackfan anemia 4 11.2
42 diamond-blackfan anemia 5 11.2
43 diamond-blackfan anemia 6 11.2
44 diamond-blackfan anemia 7 11.2
45 diamond-blackfan anemia 8 11.2
46 diamond-blackfan anemia 9 11.2
47 diamond-blackfan anemia 10 11.2
48 diamond-blackfan anemia 11 11.2
49 diamond-blackfan anemia 12 11.2
50 diamond-blackfan anemia 13 11.2

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 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
3 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:


arthralgia

MGI Mouse Phenotypes related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.23 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Temazepam Approved, Investigational 846-50-4 5391
2
Threonine Approved, Nutraceutical 72-19-5 6288

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Impact of Phonatory and Facial Morphology Disorders, on the Quality of Life of Adolescents With Pierre Robin Sequence Unknown status NCT03194178
2 Cohort Study on Prevalence and Early Treatment Outcomes in Pierre-Robin-Like Phenotype Completed NCT02266043
3 Postoperative Complications After Cleft Palate Closure in Patients With Pierre Robin Sequence: Operative Considerations Completed NCT02658318
4 Usefulness of Cephalometry in the Second and Third Trimester of Pregnancy in the Diagnosis of Fetal Microretrognathia : Prenatal Cephal Completed NCT04422067
5 Predictive Modeling for Treatment of Upper Airway Obstruction in Young Children Completed NCT01690078
6 Brainstem Dysfunction Involvement in the Pathogenesis of Pierre Robin Sequence Recruiting NCT03423017
7 A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months Enrolling by invitation NCT02364843
8 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
Eye, Heart

Publications for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Articles related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:

(show all 19)
# 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 57 6
9805126 1998
2
A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome. 6 57
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. 6 57
9506662 1998
4
A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. 6 57
7833911 1994
5
[SIMULTANEOUS OCCURRANCE OF THE PIERRE ROBIN SYNDROME AND FETAL CHONDRODYSPLASIA]. 57 6
14234962 1964
6
The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth. 61 57
813535 1975
7
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. 6
28017370 2017
8
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 6
28017372 2017
9
Further confirmation of the MED13L haploinsufficiency syndrome. 6
24781760 2015
10
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. 6
23403903 2013
11
Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). 6
14638541 2003
12
The type XI collagenopathies. 57
9799295 1998
13
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. 57
7859284 1995
14
Oto-spondylo-megaepiphyseal dysplasia (OSMED). 57
7153059 1982
15
COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED). 61 54
15558753 2005
16
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. 61
25633957 2015
17
Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report. 61
18950500 2008
18
The ocular manifestations of Weissenbacher-Zweymuller syndrome. 61
15044941 2004
19
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 170)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL11A2 NM_080680.3(COL11A2):c.4392+1G>A SNV Pathogenic 17120 rs750995470 GRCh37: 6:33134289-33134289
GRCh38: 6:33166512-33166512
2 COL11A2 NM_080680.3(COL11A2):c.2822_2848del (p.Glu941_Pro950delinsAla) Deletion Pathogenic 17122 rs864309477 GRCh37: 6:33140357-33140383
GRCh38: 6:33172580-33172606
3 COL11A2 NM_080680.3(COL11A2):c.4322G>A (p.Gly1441Glu) SNV Pathogenic 17123 rs121912946 GRCh37: 6:33134513-33134513
GRCh38: 6:33166736-33166736
4 COL11A2 NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter) SNV Pathogenic 17127 rs121912950 GRCh37: 6:33135082-33135082
GRCh38: 6:33167305-33167305
5 COL2A1 NM_001844.5(COL2A1):c.3714C>A (p.Tyr1238Ter) SNV Pathogenic 694704 rs1481453913 GRCh37: 12:48369272-48369272
GRCh38: 12:47975489-47975489
6 COL11A2 NM_080680.3(COL11A2):c.4465G>A (p.Gly1489Ser) SNV Pathogenic 694708 rs1583287711 GRCh37: 6:33133725-33133725
GRCh38: 6:33165948-33165948
7 COL2A1 NM_001844.5(COL2A1):c.1129G>A (p.Ala377Thr) SNV Pathogenic 694725 rs1045330263 GRCh37: 12:48381486-48381486
GRCh38: 12:47987703-47987703
8 MED13L t(12;19)(q24.21;q12) Translocation Pathogenic 218934 GRCh37:
GRCh38:
9 EBF3 NM_001005463.3(EBF3):c.488G>A (p.Arg163Gln) SNV Pathogenic 268156 rs1057519389 GRCh37: 10:131755588-131755588
GRCh38: 10:129957324-129957324
10 overlap with 129 genes GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327) copy number gain Pathogenic 1047880 GRCh37: 7:87477185-100333327
GRCh38:
11 SNRPB NM_003091.4(SNRPB):c.560-1G>T SNV Likely pathogenic 981739 GRCh37: 20:2443408-2443408
GRCh38: 20:2462762-2462762
12 overlap with 27 genes Duplication Likely pathogenic 562231 GRCh37: 17:7124585-7400253
GRCh38:
13 overlap with 7 genes GRCh37/hg19 2q31.1(chr2:172344870-173038935)x4 copy number gain Uncertain significance 559503 GRCh37: 2:172344870-173038935
GRCh38:
14 COL11A2 NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) SNV Uncertain significance 162981 rs142890313 GRCh37: 6:33135285-33135285
GRCh38: 6:33167508-33167508
15 COL11A2 NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp) SNV Uncertain significance 286504 rs370966667 GRCh37: 6:33133401-33133401
GRCh38: 6:33165624-33165624
16 TNNT3 NM_006757.4(TNNT3):c.667C>T (p.Arg223Cys) SNV Uncertain significance 252670 rs367658497 GRCh37: 11:1956135-1956135
GRCh38: 11:1934905-1934905
17 COL11A2 NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) SNV Uncertain significance 194797 rs199866657 GRCh37: 6:33146725-33146725
GRCh38: 6:33178948-33178948
18 COL11A2 NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys) SNV Uncertain significance 356387 rs758507327 GRCh37: 6:33136506-33136506
GRCh38: 6:33168729-33168729
19 COL11A2 NM_080680.3(COL11A2):c.2848C>T (p.Pro950Ser) SNV Uncertain significance 356396 rs768902062 GRCh37: 6:33140357-33140357
GRCh38: 6:33172580-33172580
20 COL11A2 NM_080680.3(COL11A2):c.3370G>A (p.Ala1124Thr) SNV Uncertain significance 356392 rs886061316 GRCh37: 6:33138691-33138691
GRCh38: 6:33170914-33170914
21 COL11A2 NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) SNV Uncertain significance 282710 rs151319255 GRCh37: 6:33132638-33132638
GRCh38: 6:33164861-33164861
22 COL11A2 NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val) SNV Uncertain significance 178927 rs376797260 GRCh37: 6:33140133-33140133
GRCh38: 6:33172356-33172356
23 COL11A2 NM_080680.3(COL11A2):c.2682G>A (p.Pro894=) SNV Uncertain significance 178327 rs113067047 GRCh37: 6:33141279-33141279
GRCh38: 6:33173502-33173502
24 COL11A2 NM_080680.3(COL11A2):c.1819-10G>A SNV Uncertain significance 226532 rs3129202 GRCh37: 6:33145972-33145972
GRCh38: 6:33178195-33178195
25 COL11A2 NM_080680.3(COL11A2):c.-21C>G SNV Uncertain significance 515825 rs767695417 GRCh37: 6:33160038-33160038
GRCh38: 6:33192261-33192261
26 COL11A2 NM_080680.3(COL11A2):c.2709G>A (p.Pro903=) SNV Uncertain significance 513695 rs779878105 GRCh37: 6:33141152-33141152
GRCh38: 6:33173375-33173375
27 COL11A2 NM_080680.3(COL11A2):c.579C>T (p.Ala193=) SNV Uncertain significance 681633 rs201054429 GRCh37: 6:33156166-33156166
GRCh38: 6:33188389-33188389
28 COL11A2 NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=) SNV Uncertain significance 198356 rs140017436 GRCh37: 6:33132155-33132155
GRCh38: 6:33164378-33164378
29 COL11A2 NM_080680.3(COL11A2):c.3907-5C>T SNV Uncertain significance 904520 GRCh37: 6:33136354-33136354
GRCh38: 6:33168577-33168577
30 COL11A2 NM_080680.3(COL11A2):c.628A>G (p.Ile210Val) SNV Uncertain significance 547921 rs778295133 GRCh37: 6:33154574-33154574
GRCh38: 6:33186797-33186797
31 COL11A2 NM_080680.3(COL11A2):c.1698C>T (p.Leu566=) SNV Uncertain significance 809916 rs139350991 GRCh37: 6:33146477-33146477
GRCh38: 6:33178700-33178700
32 COL11A2 NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=) SNV Uncertain significance 356390 rs146962984 GRCh37: 6:33137644-33137644
GRCh38: 6:33169867-33169867
33 COL11A2 NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) SNV Uncertain significance 198609 rs139116571 GRCh37: 6:33152819-33152819
GRCh38: 6:33185042-33185042
34 COL11A2 NM_080680.3(COL11A2):c.587T>C (p.Leu196Pro) SNV Uncertain significance 451783 rs150982987 GRCh37: 6:33156158-33156158
GRCh38: 6:33188381-33188381
35 COL11A2 NM_080680.3(COL11A2):c.3289A>C (p.Thr1097Pro) SNV Uncertain significance 391897 rs138045609 GRCh37: 6:33139071-33139071
GRCh38: 6:33171294-33171294
36 COL11A2 NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) SNV Uncertain significance 198609 rs139116571 GRCh37: 6:33152819-33152819
GRCh38: 6:33185042-33185042
37 COL11A2 NM_080680.3(COL11A2):c.2530-4G>A SNV Uncertain significance 903738 GRCh37: 6:33141707-33141707
GRCh38: 6:33173930-33173930
38 COL11A2 NM_080680.3(COL11A2):c.2254G>A (p.Val752Met) SNV Uncertain significance 561277 rs201076557 GRCh37: 6:33143807-33143807
GRCh38: 6:33176030-33176030
39 COL11A2 NM_080680.3(COL11A2):c.2220G>A (p.Glu740=) SNV Uncertain significance 547218 rs202032297 GRCh37: 6:33143841-33143841
GRCh38: 6:33176064-33176064
40 COL11A2 NM_080680.3(COL11A2):c.1869C>G (p.Pro623=) SNV Uncertain significance 903890 GRCh37: 6:33145912-33145912
GRCh38: 6:33178135-33178135
41 COL11A2 NM_080680.3(COL11A2):c.1697T>G (p.Leu566Arg) SNV Uncertain significance 903951 GRCh37: 6:33146478-33146478
GRCh38: 6:33178701-33178701
42 COL11A2 NM_080680.3(COL11A2):c.799-3C>T SNV Uncertain significance 904086 GRCh37: 6:33153558-33153558
GRCh38: 6:33185781-33185781
43 COL11A2 NM_080680.3(COL11A2):c.222G>A (p.Gln74=) SNV Uncertain significance 904148 GRCh37: 6:33157107-33157107
GRCh38: 6:33189330-33189330
44 COL11A2 NM_080680.3(COL11A2):c.*429G>T SNV Uncertain significance 904203 GRCh37: 6:33131026-33131026
GRCh38: 6:33163249-33163249
45 COL11A2 NM_080680.3(COL11A2):c.5088G>A (p.Thr1696=) SNV Uncertain significance 504742 rs142893093 GRCh37: 6:33131578-33131578
GRCh38: 6:33163801-33163801
46 COL11A2 NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln) SNV Uncertain significance 505075 rs781633250 GRCh37: 6:33131582-33131582
GRCh38: 6:33163805-33163805
47 COL11A2 NM_080680.3(COL11A2):c.4231-4C>G SNV Uncertain significance 904453 GRCh37: 6:33134608-33134608
GRCh38: 6:33166831-33166831
48 COL11A2 NM_080680.3(COL11A2):c.4228A>G (p.Lys1410Glu) SNV Uncertain significance 904454 GRCh37: 6:33134849-33134849
GRCh38: 6:33167072-33167072
49 COL11A2 NM_080680.3(COL11A2):c.3150+7G>T SNV Uncertain significance 904728 GRCh37: 6:33139483-33139483
GRCh38: 6:33171706-33171706
50 COL11A2 NM_080680.3(COL11A2):c.*819C>T SNV Uncertain significance 904927 GRCh37: 6:33130636-33130636
GRCh38: 6:33162859-33162859

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

72
# 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
12.61 COL9A1 COL5A2 COL2A1 COL11A2 COL11A1
2
Show member pathways
12.42 COL9A1 COL5A2 COL2A1 COL11A2 COL11A1
3
Show member pathways
12.09 COL9A1 COL5A2 COL2A1 COL11A2 COL11A1
4
Show member pathways
11.67 COL9A1 COL5A2 COL2A1 COL11A2 COL11A1
5 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 space GO:0005615 9.97 TECTB OTOG COL9A1 COL5A2 COL2A1 COL11A2
2 extracellular region GO:0005576 9.91 TECTB TECTA OTOG COL9A1 COL5A2 COL2A1
3 endoplasmic reticulum lumen GO:0005788 9.72 COL9A1 COL5A2 COL2A1 COL11A2 COL11A1
4 collagen-containing extracellular matrix GO:0062023 9.63 TECTA 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 TECTA OTOG COL9A1 COL5A2 COL2A1 COL11A2

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

(show all 11)
# 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 cartilage development GO:0051216 9.5 COL2A1 COL11A2 COL11A1
5 chondrocyte differentiation GO:0002062 9.49 COL2A1 COL11A2
6 tissue homeostasis GO:0001894 9.48 COL2A1 COL11A2
7 cartilage condensation GO:0001502 9.46 COL2A1 COL11A1
8 skeletal system morphogenesis GO:0048705 9.43 COL2A1 COL11A2 COL11A1
9 proteoglycan metabolic process GO:0006029 9.37 COL2A1 COL11A1
10 collagen fibril organization GO:0030199 9.26 COL5A2 COL2A1 COL11A2 COL11A1
11 sensory perception of sound GO:0007605 9.1 TECTA 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 conferring tensile strength GO:0030020 9.35 COL9A1 COL5A2 COL2A1 COL11A2 COL11A1
2 extracellular matrix structural constituent GO:0005201 9.17 TECTB TECTA COL9A1 COL5A2 COL2A1 COL11A2

Sources for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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