OSMED
MCID: OTS002
MIFTS: 44

Otospondylomegaepiphyseal Dysplasia (OSMED)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Otospondylomegaepiphyseal Dysplasia

MalaCards integrated aliases for Otospondylomegaepiphyseal Dysplasia:

Name: Otospondylomegaepiphyseal Dysplasia 12 77 26 30 13 6 15
Chondrodystrophy with Sensorineural Deafness 12 26
Oto-Spondylo-Megaepiphyseal Dysplasia 26 38
Nance-Sweeney Chondrodysplasia 12 26
Nance-Insley Syndrome 12 26
Dysplasia, Otospondylomegaepiphyseal 41
Mega-Epiphyseal Dwarfism 26
Megaepiphyseal Dwarfism 74
Insley-Astley Syndrome 26
Osmed 26

Classifications:



Summaries for Otospondylomegaepiphyseal Dysplasia

Genetics Home Reference : 26 Otospondylomegaepiphyseal dysplasia (OSMED) is a condition characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss. The term "otospondylomegaepiphyseal" refers to the parts of the body that this condition affects: the ears (oto-), the bones of the spine (spondylo-), and the ends (epiphyses) of long bones in the arms and legs. The features of this condition significantly overlap those of two similar conditions, Weissenbacher-Zweym├╝ller syndrome 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 the conditions apart. Some researchers believe they represent a single disorder with a range of signs and symptoms.

MalaCards based summary : Otospondylomegaepiphyseal Dysplasia, also known as chondrodystrophy with sensorineural deafness, is related to otospondylomegaepiphyseal dysplasia, autosomal recessive and otospondylomegaepiphyseal dysplasia, autosomal dominant, and has symptoms including arthralgia An important gene associated with Otospondylomegaepiphyseal Dysplasia is COL11A2 (Collagen Type XI Alpha 2 Chain), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include bone, skin and epiphysis in, and related phenotypes are malar flattening and joint stiffness

Disease Ontology : 12 An osteochondrodysplasia that results from mutations in the COL11A2 gene which results in enlargement of the located in epiphysis in located in hand and located in foot, distinct facial features, platyspondyly and hearing loss.

Wikipedia : 77 Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive disorder of bone growth that... more...

Related Diseases for Otospondylomegaepiphyseal Dysplasia

Diseases in the Otospondylomegaepiphyseal Dysplasia family:

Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 otospondylomegaepiphyseal dysplasia, autosomal recessive 33.8 COL11A2 COL2A1
2 otospondylomegaepiphyseal dysplasia, autosomal dominant 33.3 COL11A1 COL11A2 COL2A1
3 osteoarthritis 29.6 COL11A2 COL2A1
4 stickler syndrome 29.2 COL11A1 COL11A2 COL2A1
5 megaepiphyseal dwarfism 11.2
6 melanoma 10.3
7 leukemia 10.2
8 rere-related disorders 10.1
9 fibrochondrogenesis 9.9 COL11A1 COL11A2
10 systemic lupus erythematosus 9.9
11 myeloma, multiple 9.9
12 asthma 9.9
13 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
14 burns 9.9
15 sarcoma 9.9
16 vogt-koyanagi-harada disease 9.9
17 in situ carcinoma 9.9
18 breast carcinoma in situ 9.9
19 skin melanoma 9.9
20 glioma 9.9
21 mediastinal endodermal sinus tumors 9.9
22 streptococcal group a invasive disease 9.9
23 marshall syndrome 9.9 COL11A1 COL2A1
24 vitreous syneresis 9.9 COL11A1 COL2A1
25 macroglossia 9.9 COL11A1 COL2A1
26 vitreoretinal dystrophy 9.8 COL11A1 COL2A1
27 vitreoretinal degeneration 9.8 COL11A1 COL2A1
28 achondrogenesis, type ii 9.8 COL11A1 COL2A1
29 kniest dysplasia 9.8 COL11A1 COL2A1
30 hypochondrogenesis 9.8 COL11A1 COL2A1
31 donnai-barrow syndrome 9.8 COL11A1 COL2A1
32 spondyloepiphyseal dysplasia congenita 9.8 COL11A1 COL2A1
33 spinal stenosis 9.7 COL11A2 COL2A1
34 retinal detachment 9.7 COL11A1 COL2A1
35 campomelic dysplasia 9.7 COL11A2 COL2A1
36 multiple epiphyseal dysplasia 9.7 COL11A2 COL2A1
37 strabismus 9.7 COL11A1 COL2A1
38 retinal perforation 9.5 COL11A1 COL11A2 COL2A1
39 cleft palate, isolated 9.5 COL11A1 COL11A2 COL2A1
40 sensorineural hearing loss 9.5 COL11A1 COL11A2 COL2A1
41 myopia 9.5 COL11A1 COL2A1

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



Diseases related to Otospondylomegaepiphyseal Dysplasia

Symptoms & Phenotypes for Otospondylomegaepiphyseal Dysplasia

Human phenotypes related to Otospondylomegaepiphyseal Dysplasia:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 hallmark (90%) HP:0000272
2 joint stiffness 33 hallmark (90%) HP:0001387
3 sensorineural hearing impairment 33 hallmark (90%) HP:0000407
4 anteverted nares 33 hallmark (90%) HP:0000463
5 cleft palate 33 hallmark (90%) HP:0000175
6 abnormality of the metaphysis 33 hallmark (90%) HP:0000944
7 platyspondyly 33 hallmark (90%) HP:0000926
8 micromelia 33 hallmark (90%) HP:0002983
9 depressed nasal ridge 33 hallmark (90%) HP:0000457
10 kyphosis 33 frequent (33%) HP:0002808
11 hyperlordosis 33 frequent (33%) HP:0003307
12 feeding difficulties in infancy 33 frequent (33%) HP:0008872
13 recurrent pneumonia 33 frequent (33%) HP:0006532
14 abnormality of the skin 33 frequent (33%) HP:0000951
15 strabismus 33 occasional (7.5%) HP:0000486
16 ventricular septal defect 33 occasional (7.5%) HP:0001629
17 synostosis of carpal bones 33 occasional (7.5%) HP:0005048
18 abnormal lacrimal duct morphology 33 occasional (7.5%) HP:0011481

UMLS symptoms related to Otospondylomegaepiphyseal Dysplasia:


arthralgia

MGI Mouse Phenotypes related to Otospondylomegaepiphyseal Dysplasia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.33 COL11A1 COL11A2 COL2A1
2 hearing/vestibular/ear MP:0005377 9.13 COL11A1 COL11A2 COL2A1
3 skeleton MP:0005390 8.8 COL11A1 COL11A2 COL2A1

Drugs & Therapeutics for Otospondylomegaepiphyseal Dysplasia

Search Clinical Trials , NIH Clinical Center for Otospondylomegaepiphyseal Dysplasia

Genetic Tests for Otospondylomegaepiphyseal Dysplasia

Genetic tests related to Otospondylomegaepiphyseal Dysplasia:

# Genetic test Affiliating Genes
1 Otospondylomegaepiphyseal Dysplasia 30 COL11A2

Anatomical Context for Otospondylomegaepiphyseal Dysplasia

MalaCards organs/tissues related to Otospondylomegaepiphyseal Dysplasia:

42
Bone, Skin

The Foundational Model of Anatomy Ontology organs/tissues related to Otospondylomegaepiphyseal Dysplasia:

20
Epiphysis In, Foot

Publications for Otospondylomegaepiphyseal Dysplasia

Articles related to Otospondylomegaepiphyseal Dysplasia:

# Title Authors Year
1
Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2. ( 21208667 )
2011
2
Gene symbol: COL11A2. Disease: Otospondylomegaepiphyseal dysplasia. ( 18846651 )
2008
3
Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene. ( 18381781 )
2008
4
COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED). ( 15558753 )
2005
5
Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED). ( 11668593 )
2001
6
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. ( 10677296 )
2000
7
Otospondylomegaepiphyseal dysplasia: report of three sibs and review of the literature. ( 8205326 )
1994

Variations for Otospondylomegaepiphyseal Dysplasia

ClinVar genetic disease variations for Otospondylomegaepiphyseal Dysplasia:

6 (show top 50) (show all 208)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL11A2 NM_080680.2(COL11A2): c.*4C> T single nucleotide variant Benign/Likely benign rs186720023 GRCh37 Chromosome 6, 33131451: 33131451
2 COL11A2 NM_080680.2(COL11A2): c.*4C> T single nucleotide variant Benign/Likely benign rs186720023 GRCh38 Chromosome 6, 33163674: 33163674
3 COL11A2 NM_080680.2(COL11A2): c.4884G> C (p.Glu1628Asp) single nucleotide variant Benign/Likely benign rs2229790 GRCh37 Chromosome 6, 33132230: 33132230
4 COL11A2 NM_080680.2(COL11A2): c.4884G> C (p.Glu1628Asp) single nucleotide variant Benign/Likely benign rs2229790 GRCh38 Chromosome 6, 33164453: 33164453
5 COL11A2 NM_080680.2(COL11A2): c.4799G> A (p.Arg1600Gln) single nucleotide variant Benign/Likely benign rs1799912 GRCh37 Chromosome 6, 33132693: 33132693
6 COL11A2 NM_080680.2(COL11A2): c.4799G> A (p.Arg1600Gln) single nucleotide variant Benign/Likely benign rs1799912 GRCh38 Chromosome 6, 33164916: 33164916
7 COL11A2 NM_080680.2(COL11A2): c.4683A> G (p.Thr1561=) single nucleotide variant Likely benign rs34055850 GRCh37 Chromosome 6, 33133393: 33133393
8 COL11A2 NM_080680.2(COL11A2): c.4683A> G (p.Thr1561=) single nucleotide variant Likely benign rs34055850 GRCh38 Chromosome 6, 33165616: 33165616
9 COL11A2 NM_080680.2(COL11A2): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs727504460 GRCh37 Chromosome 6, 33136324: 33136324
10 COL11A2 NM_080680.2(COL11A2): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs727504460 GRCh38 Chromosome 6, 33168547: 33168547
11 COL11A2 NM_080680.2(COL11A2): c.3616C> T (p.Leu1206=) single nucleotide variant Conflicting interpretations of pathogenicity rs147576338 GRCh37 Chromosome 6, 33137844: 33137844
12 COL11A2 NM_080680.2(COL11A2): c.3616C> T (p.Leu1206=) single nucleotide variant Conflicting interpretations of pathogenicity rs147576338 GRCh38 Chromosome 6, 33170067: 33170067
13 COL11A2 NM_080680.2(COL11A2): c.3576C> T (p.Gly1192=) single nucleotide variant Likely benign rs138380958 GRCh37 Chromosome 6, 33138109: 33138109
14 COL11A2 NM_080680.2(COL11A2): c.3576C> T (p.Gly1192=) single nucleotide variant Likely benign rs138380958 GRCh38 Chromosome 6, 33170332: 33170332
15 COL11A2 NM_080680.2(COL11A2): c.2186G> A (p.Arg729Gln) single nucleotide variant Benign/Likely benign rs61730262 GRCh37 Chromosome 6, 33144064: 33144064
16 COL11A2 NM_080680.2(COL11A2): c.2186G> A (p.Arg729Gln) single nucleotide variant Benign/Likely benign rs61730262 GRCh38 Chromosome 6, 33176287: 33176287
17 COL11A2 NM_080680.2(COL11A2): c.1287C> T (p.Gly429=) single nucleotide variant Likely benign rs549704545 GRCh37 Chromosome 6, 33148107: 33148107
18 COL11A2 NM_080680.2(COL11A2): c.1287C> T (p.Gly429=) single nucleotide variant Likely benign rs549704545 GRCh38 Chromosome 6, 33180330: 33180330
19 COL11A2 NM_080680.2(COL11A2): c.353G> C (p.Arg118Pro) single nucleotide variant Likely benign rs41268014 GRCh37 Chromosome 6, 33156845: 33156845
20 COL11A2 NM_080680.2(COL11A2): c.353G> C (p.Arg118Pro) single nucleotide variant Likely benign rs41268014 GRCh38 Chromosome 6, 33189068: 33189068
21 COL11A2 NM_080680.2(COL11A2): c.5000G> A (p.Arg1667His) single nucleotide variant Benign/Likely benign rs146555195 GRCh37 Chromosome 6, 33132114: 33132114
22 COL11A2 NM_080680.2(COL11A2): c.5000G> A (p.Arg1667His) single nucleotide variant Benign/Likely benign rs146555195 GRCh38 Chromosome 6, 33164337: 33164337
23 COL11A2 NM_080680.2(COL11A2): c.4521G> A (p.Gln1507=) single nucleotide variant Benign/Likely benign rs114580597 GRCh37 Chromosome 6, 33133555: 33133555
24 COL11A2 NM_080680.2(COL11A2): c.4521G> A (p.Gln1507=) single nucleotide variant Benign/Likely benign rs114580597 GRCh38 Chromosome 6, 33165778: 33165778
25 COL11A2 NM_080680.2(COL11A2): c.4458T> A (p.Gly1486=) single nucleotide variant Benign/Likely benign rs143186319 GRCh37 Chromosome 6, 33133732: 33133732
26 COL11A2 NM_080680.2(COL11A2): c.4458T> A (p.Gly1486=) single nucleotide variant Benign/Likely benign rs143186319 GRCh38 Chromosome 6, 33165955: 33165955
27 COL11A2 NM_080680.2(COL11A2): c.2921C> T (p.Ala974Val) single nucleotide variant Conflicting interpretations of pathogenicity rs376797260 GRCh38 Chromosome 6, 33172356: 33172356
28 COL11A2 NM_080680.2(COL11A2): c.2921C> T (p.Ala974Val) single nucleotide variant Conflicting interpretations of pathogenicity rs376797260 GRCh37 Chromosome 6, 33140133: 33140133
29 COL11A2 NM_080680.2(COL11A2): c.2336C> T (p.Pro779Leu) single nucleotide variant Benign/Likely benign rs150877886 GRCh37 Chromosome 6, 33143391: 33143391
30 COL11A2 NM_080680.2(COL11A2): c.2336C> T (p.Pro779Leu) single nucleotide variant Benign/Likely benign rs150877886 GRCh38 Chromosome 6, 33175614: 33175614
31 COL11A2 NM_080680.2(COL11A2): c.3111G> T (p.Pro1037=) single nucleotide variant Benign/Likely benign rs146093235 GRCh37 Chromosome 6, 33139529: 33139529
32 COL11A2 NM_080680.2(COL11A2): c.3111G> T (p.Pro1037=) single nucleotide variant Benign/Likely benign rs146093235 GRCh38 Chromosome 6, 33171752: 33171752
33 COL11A2 NM_080680.2(COL11A2): c.3699C> T (p.Arg1233=) single nucleotide variant Benign/Likely benign rs151098305 GRCh37 Chromosome 6, 33137259: 33137259
34 COL11A2 NM_080680.2(COL11A2): c.3699C> T (p.Arg1233=) single nucleotide variant Benign/Likely benign rs151098305 GRCh38 Chromosome 6, 33169482: 33169482
35 COL11A2 NM_080680.2(COL11A2): c.4652G> A (p.Arg1551Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145343609 GRCh37 Chromosome 6, 33133424: 33133424
36 COL11A2 NM_080680.2(COL11A2): c.4652G> A (p.Arg1551Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145343609 GRCh38 Chromosome 6, 33165647: 33165647
37 COL11A2 NM_080680.2(COL11A2): c.1981G> A (p.Gly661Arg) single nucleotide variant Pathogenic rs121912945 GRCh37 Chromosome 6, 33144993: 33144993
38 COL11A2 NM_080680.2(COL11A2): c.1981G> A (p.Gly661Arg) single nucleotide variant Pathogenic rs121912945 GRCh38 Chromosome 6, 33177216: 33177216
39 COL11A2 NM_080680.2(COL11A2): c.2492C> A (p.Ser831Ter) single nucleotide variant Pathogenic rs121912949 GRCh37 Chromosome 6, 33141825: 33141825
40 COL11A2 NM_080680.2(COL11A2): c.2492C> A (p.Ser831Ter) single nucleotide variant Pathogenic rs121912949 GRCh38 Chromosome 6, 33174048: 33174048
41 COL11A2 NM_080680.2(COL11A2): c.3991C> T (p.Arg1331Ter) single nucleotide variant Pathogenic rs121912951 GRCh37 Chromosome 6, 33135599: 33135599
42 COL11A2 NM_080680.2(COL11A2): c.3991C> T (p.Arg1331Ter) single nucleotide variant Pathogenic rs121912951 GRCh38 Chromosome 6, 33167822: 33167822
43 COL11A2 NM_080680.2(COL11A2): c.3962delG (p.Gly1321Valfs) deletion Pathogenic GRCh38 Chromosome 6, 33167851: 33167851
44 COL11A2 NM_080680.2(COL11A2): c.3962delG (p.Gly1321Valfs) deletion Pathogenic GRCh37 Chromosome 6, 33135628: 33135628
45 COL11A2 NM_080680.2(COL11A2): c.1179+10G> A single nucleotide variant Benign rs2744507 GRCh37 Chromosome 6, 33148878: 33148878
46 COL11A2 NM_080680.2(COL11A2): c.1179+10G> A single nucleotide variant Benign rs2744507 GRCh38 Chromosome 6, 33181101: 33181101
47 COL11A2 NM_080680.2(COL11A2): c.1360-7A> C single nucleotide variant Benign rs3129201 GRCh37 Chromosome 6, 33147589: 33147589
48 COL11A2 NM_080680.2(COL11A2): c.1360-7A> C single nucleotide variant Benign rs3129201 GRCh38 Chromosome 6, 33179812: 33179812
49 COL11A2 NM_080680.2(COL11A2): c.1615C> T (p.Arg539Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs145499142 GRCh37 Chromosome 6, 33146747: 33146747
50 COL11A2 NM_080680.2(COL11A2): c.1615C> T (p.Arg539Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs145499142 GRCh38 Chromosome 6, 33178970: 33178970

Expression for Otospondylomegaepiphyseal Dysplasia

Search GEO for disease gene expression data for Otospondylomegaepiphyseal Dysplasia.

Pathways for Otospondylomegaepiphyseal Dysplasia

GO Terms for Otospondylomegaepiphyseal Dysplasia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.54 COL11A1 COL11A2 COL2A1
2 extracellular matrix GO:0031012 9.5 COL11A1 COL11A2 COL2A1
3 endoplasmic reticulum lumen GO:0005788 9.43 COL11A1 COL11A2 COL2A1
4 collagen-containing extracellular matrix GO:0062023 9.33 COL11A1 COL11A2 COL2A1
5 collagen trimer GO:0005581 9.13 COL11A1 COL11A2 COL2A1
6 collagen type XI trimer GO:0005592 8.62 COL11A1 COL11A2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.55 COL11A1 COL2A1
2 skeletal system development GO:0001501 9.54 COL11A2 COL2A1
3 extracellular matrix organization GO:0030198 9.54 COL11A1 COL11A2 COL2A1
4 ossification GO:0001503 9.52 COL11A1 COL2A1
5 roof of mouth development GO:0060021 9.51 COL11A2 COL2A1
6 inner ear morphogenesis GO:0042472 9.49 COL11A1 COL2A1
7 heart morphogenesis GO:0003007 9.48 COL11A1 COL2A1
8 chondrocyte differentiation GO:0002062 9.46 COL11A2 COL2A1
9 tissue homeostasis GO:0001894 9.43 COL11A2 COL2A1
10 sensory perception of sound GO:0007605 9.43 COL11A1 COL11A2 COL2A1
11 cartilage condensation GO:0001502 9.4 COL11A1 COL2A1
12 cartilage development GO:0051216 9.33 COL11A1 COL11A2 COL2A1
13 proteoglycan metabolic process GO:0006029 9.32 COL11A1 COL2A1
14 collagen fibril organization GO:0030199 9.13 COL11A1 COL11A2 COL2A1
15 skeletal system morphogenesis GO:0048705 8.8 COL11A1 COL11A2 COL2A1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding, bridging GO:0030674 9.16 COL11A1 COL11A2
2 extracellular matrix structural constituent GO:0005201 9.13 COL11A1 COL11A2 COL2A1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.8 COL11A1 COL11A2 COL2A1

Sources for Otospondylomegaepiphyseal Dysplasia

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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70 SNOMED-CT via HPO
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