OSMED
MCID: OTS002
MIFTS: 46

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 76 25 29 13 6 15
Chondrodystrophy with Sensorineural Deafness 12 25
Oto-Spondylo-Megaepiphyseal Dysplasia 25 37
Nance-Sweeney Chondrodysplasia 12 25
Nance-Insley Syndrome 12 25
Dysplasia, Otospondylomegaepiphyseal 40
Mega-Epiphyseal Dwarfism 25
Megaepiphyseal Dwarfism 73
Insley-Astley Syndrome 25
Osmed 25

Classifications:



Summaries for Otospondylomegaepiphyseal Dysplasia

Genetics Home Reference : 25 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 kyphosis

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 : 76 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 37)
# Related Disease Score Top Affiliating Genes
1 otospondylomegaepiphyseal dysplasia, autosomal recessive 34.0 COL11A2 COL2A1
2 otospondylomegaepiphyseal dysplasia, autosomal dominant 33.7 COL11A1 COL11A2 COL2A1
3 osteoarthritis 29.8 COL11A2 COL2A1
4 stickler syndrome 29.6 COL11A1 COL11A2 COL2A1
5 megaepiphyseal dwarfism 11.2
6 leukemia 10.1
7 fibrochondrogenesis 10.0 COL11A1 COL11A2
8 marshall syndrome 10.0 COL11A1 COL2A1
9 vitreous syneresis 10.0 COL11A1 COL2A1
10 macroglossia 10.0 COL11A1 COL2A1
11 vitreoretinal dystrophy 10.0 COL11A1 COL2A1
12 vitreoretinal degeneration 10.0 COL11A1 COL2A1
13 achondrogenesis, type ii 10.0 COL11A1 COL2A1
14 kniest dysplasia 10.0 COL11A1 COL2A1
15 hypochondrogenesis 9.9 COL11A1 COL2A1
16 donnai-barrow syndrome 9.9 COL11A1 COL2A1
17 spinal stenosis 9.9 COL11A2 COL2A1
18 systemic lupus erythematosus 9.9
19 myeloma, multiple 9.9
20 asthma 9.9
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
22 burns 9.9
23 sarcoma 9.9
24 vogt-koyanagi-harada disease 9.9
25 in situ carcinoma 9.9
26 breast carcinoma in situ 9.9
27 irritable bowel syndrome 9.9
28 glioma 9.9
29 spondyloepiphyseal dysplasia congenita 9.9 COL11A1 COL2A1
30 campomelic dysplasia 9.9 COL11A2 COL2A1
31 multiple epiphyseal dysplasia 9.9 COL11A2 COL2A1
32 retinal detachment 9.9 COL11A1 COL2A1
33 strabismus 9.8 COL11A1 COL2A1
34 retinal perforation 9.8 COL11A1 COL11A2 COL2A1
35 cleft palate, isolated 9.8 COL11A1 COL11A2 COL2A1
36 sensorineural hearing loss 9.8 COL11A1 COL11A2 COL2A1
37 myopia 9.8 COL11A1 COL11A2 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:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 hallmark (90%) HP:0000272
2 kyphosis 32 frequent (33%) HP:0002808
3 hyperlordosis 32 frequent (33%) HP:0003307
4 joint stiffness 32 hallmark (90%) HP:0001387
5 sensorineural hearing impairment 32 hallmark (90%) HP:0000407
6 anteverted nares 32 hallmark (90%) HP:0000463
7 feeding difficulties in infancy 32 frequent (33%) HP:0008872
8 cleft palate 32 hallmark (90%) HP:0000175
9 abnormality of the metaphysis 32 hallmark (90%) HP:0000944
10 strabismus 32 occasional (7.5%) HP:0000486
11 platyspondyly 32 hallmark (90%) HP:0000926
12 micromelia 32 hallmark (90%) HP:0002983
13 depressed nasal ridge 32 hallmark (90%) HP:0000457
14 ventricular septal defect 32 occasional (7.5%) HP:0001629
15 recurrent pneumonia 32 frequent (33%) HP:0006532
16 synostosis of carpal bones 32 occasional (7.5%) HP:0005048
17 abnormality of the skin 32 frequent (33%) HP:0000951
18 abnormal lacrimal duct morphology 32 occasional (7.5%) HP:0011481

UMLS symptoms related to Otospondylomegaepiphyseal Dysplasia:


arthralgia

MGI Mouse Phenotypes related to Otospondylomegaepiphyseal Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.62 COL11A1 COL11A2 COL2A1 NKX3-2
2 hearing/vestibular/ear MP:0005377 9.56 COL11A1 COL11A2 COL2A1 NKX3-2
3 limbs/digits/tail MP:0005371 9.33 COL11A1 COL2A1 NKX3-2
4 respiratory system MP:0005388 9.13 COL11A1 COL2A1 NKX3-2
5 skeleton MP:0005390 8.92 COL11A1 COL11A2 COL2A1 NKX3-2

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 29 COL11A2

Anatomical Context for Otospondylomegaepiphyseal Dysplasia

MalaCards organs/tissues related to Otospondylomegaepiphyseal Dysplasia:

41
Bone, Skin

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

19
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 215)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL11A2 NM_080680.2(COL11A2): c.1981G> A (p.Gly661Arg) single nucleotide variant Pathogenic rs121912945 GRCh37 Chromosome 6, 33144993: 33144993
2 COL11A2 NM_080680.2(COL11A2): c.1981G> A (p.Gly661Arg) single nucleotide variant Pathogenic rs121912945 GRCh38 Chromosome 6, 33177216: 33177216
3 COL11A2 NM_080680.2(COL11A2): c.2492C> A (p.Ser831Ter) single nucleotide variant Pathogenic rs121912949 GRCh37 Chromosome 6, 33141825: 33141825
4 COL11A2 NM_080680.2(COL11A2): c.2492C> A (p.Ser831Ter) single nucleotide variant Pathogenic rs121912949 GRCh38 Chromosome 6, 33174048: 33174048
5 COL11A2 NM_080680.2(COL11A2): c.3991C> T (p.Arg1331Ter) single nucleotide variant Pathogenic rs121912951 GRCh37 Chromosome 6, 33135599: 33135599
6 COL11A2 NM_080680.2(COL11A2): c.3991C> T (p.Arg1331Ter) single nucleotide variant Pathogenic rs121912951 GRCh38 Chromosome 6, 33167822: 33167822
7 COL11A2 COL11A2, 1-BP DEL, 3962G deletion Pathogenic
8 COL11A2 NM_080680.2(COL11A2): c.1179+10G> A single nucleotide variant Benign rs2744507 GRCh37 Chromosome 6, 33148878: 33148878
9 COL11A2 NM_080680.2(COL11A2): c.1179+10G> A single nucleotide variant Benign rs2744507 GRCh38 Chromosome 6, 33181101: 33181101
10 COL11A2 NM_080680.2(COL11A2): c.1360-7A> C single nucleotide variant Benign rs3129201 GRCh37 Chromosome 6, 33147589: 33147589
11 COL11A2 NM_080680.2(COL11A2): c.1360-7A> C single nucleotide variant Benign rs3129201 GRCh38 Chromosome 6, 33179812: 33179812
12 COL11A2 NM_080680.2(COL11A2): c.1615C> T (p.Arg539Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs145499142 GRCh37 Chromosome 6, 33146747: 33146747
13 COL11A2 NM_080680.2(COL11A2): c.1615C> T (p.Arg539Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs145499142 GRCh38 Chromosome 6, 33178970: 33178970
14 COL11A2 NM_080680.2(COL11A2): c.1782C> T (p.Asp594=) single nucleotide variant Benign/Likely benign rs41266697 GRCh37 Chromosome 6, 33146121: 33146121
15 COL11A2 NM_080680.2(COL11A2): c.1782C> T (p.Asp594=) single nucleotide variant Benign/Likely benign rs41266697 GRCh38 Chromosome 6, 33178344: 33178344
16 COL11A2 NM_080680.2(COL11A2): c.2136A> T (p.Gly712=) single nucleotide variant Benign rs1799908 GRCh37 Chromosome 6, 33144243: 33144243
17 COL11A2 NM_080680.2(COL11A2): c.2136A> T (p.Gly712=) single nucleotide variant Benign rs1799908 GRCh38 Chromosome 6, 33176466: 33176466
18 COL11A2 NM_080680.2(COL11A2): c.2520G> A (p.Arg840=) single nucleotide variant Benign/Likely benign rs117237998 GRCh37 Chromosome 6, 33141797: 33141797
19 COL11A2 NM_080680.2(COL11A2): c.2520G> A (p.Arg840=) single nucleotide variant Benign/Likely benign rs117237998 GRCh38 Chromosome 6, 33174020: 33174020
20 COL11A2 NM_080680.2(COL11A2): c.2628+3G> A single nucleotide variant Benign rs970901 GRCh37 Chromosome 6, 33141475: 33141475
21 COL11A2 NM_080680.2(COL11A2): c.2628+3G> A single nucleotide variant Benign rs970901 GRCh38 Chromosome 6, 33173698: 33173698
22 COL11A2 NM_080680.2(COL11A2): c.2681C> T (p.Pro894Leu) single nucleotide variant Benign rs2855430 GRCh37 Chromosome 6, 33141280: 33141280
23 COL11A2 NM_080680.2(COL11A2): c.2681C> T (p.Pro894Leu) single nucleotide variant Benign rs2855430 GRCh38 Chromosome 6, 33173503: 33173503
24 COL11A2 NM_080680.2(COL11A2): c.2700T> C (p.Asp900=) single nucleotide variant Benign rs2229785 GRCh37 Chromosome 6, 33141161: 33141161
25 COL11A2 NM_080680.2(COL11A2): c.2700T> C (p.Asp900=) single nucleotide variant Benign rs2229785 GRCh38 Chromosome 6, 33173384: 33173384
26 COL11A2 NM_080680.2(COL11A2): c.3150+15A> C single nucleotide variant Benign rs2855436 GRCh37 Chromosome 6, 33139475: 33139475
27 COL11A2 NM_080680.2(COL11A2): c.3150+15A> C single nucleotide variant Benign rs2855436 GRCh38 Chromosome 6, 33171698: 33171698
28 COL11A2 NM_080680.2(COL11A2): c.3174G> A (p.Pro1058=) single nucleotide variant Benign rs1799910 GRCh37 Chromosome 6, 33139328: 33139328
29 COL11A2 NM_080680.2(COL11A2): c.3174G> A (p.Pro1058=) single nucleotide variant Benign rs1799910 GRCh38 Chromosome 6, 33171551: 33171551
30 COL11A2 NM_080680.2(COL11A2): c.3313-11C> T single nucleotide variant Benign rs2855437 GRCh37 Chromosome 6, 33138955: 33138955
31 COL11A2 NM_080680.2(COL11A2): c.3313-11C> T single nucleotide variant Benign rs2855437 GRCh38 Chromosome 6, 33171178: 33171178
32 COL11A2 NM_080680.2(COL11A2): c.3946C> A (p.Pro1316Thr) single nucleotide variant Benign rs2229784 GRCh37 Chromosome 6, 33136310: 33136310
33 COL11A2 NM_080680.2(COL11A2): c.3946C> A (p.Pro1316Thr) single nucleotide variant Benign rs2229784 GRCh38 Chromosome 6, 33168533: 33168533
34 COL11A2 NM_080680.2(COL11A2): c.5165C> T (p.Pro1722Leu) single nucleotide variant Benign/Likely benign rs2229792 GRCh37 Chromosome 6, 33131501: 33131501
35 COL11A2 NM_080680.2(COL11A2): c.5165C> T (p.Pro1722Leu) single nucleotide variant Benign/Likely benign rs2229792 GRCh38 Chromosome 6, 33163724: 33163724
36 COL11A2 NM_080680.2(COL11A2): c.826G> A (p.Glu276Lys) single nucleotide variant Benign rs9277934 GRCh37 Chromosome 6, 33153528: 33153528
37 COL11A2 NM_080680.2(COL11A2): c.826G> A (p.Glu276Lys) single nucleotide variant Benign rs9277934 GRCh38 Chromosome 6, 33185751: 33185751
38 COL11A2 NM_080680.2(COL11A2): c.877-4T> A single nucleotide variant Benign rs1799907 GRCh37 Chromosome 6, 33152835: 33152835
39 COL11A2 NM_080680.2(COL11A2): c.877-4T> A single nucleotide variant Benign rs1799907 GRCh38 Chromosome 6, 33185058: 33185058
40 COL11A2 NM_080680.2(COL11A2): c.*4C> T single nucleotide variant Benign/Likely benign rs186720023 GRCh37 Chromosome 6, 33131451: 33131451
41 COL11A2 NM_080680.2(COL11A2): c.*4C> T single nucleotide variant Benign/Likely benign rs186720023 GRCh38 Chromosome 6, 33163674: 33163674
42 COL11A2 NM_080680.2(COL11A2): c.4884G> C (p.Glu1628Asp) single nucleotide variant Benign/Likely benign rs2229790 GRCh37 Chromosome 6, 33132230: 33132230
43 COL11A2 NM_080680.2(COL11A2): c.4884G> C (p.Glu1628Asp) single nucleotide variant Benign/Likely benign rs2229790 GRCh38 Chromosome 6, 33164453: 33164453
44 COL11A2 NM_080680.2(COL11A2): c.4799G> A (p.Arg1600Gln) single nucleotide variant Benign/Likely benign rs1799912 GRCh38 Chromosome 6, 33164916: 33164916
45 COL11A2 NM_080680.2(COL11A2): c.4799G> A (p.Arg1600Gln) single nucleotide variant Benign/Likely benign rs1799912 GRCh37 Chromosome 6, 33132693: 33132693
46 COL11A2 NM_080680.2(COL11A2): c.4683A> G (p.Thr1561=) single nucleotide variant Likely benign rs34055850 GRCh37 Chromosome 6, 33133393: 33133393
47 COL11A2 NM_080680.2(COL11A2): c.4683A> G (p.Thr1561=) single nucleotide variant Likely benign rs34055850 GRCh38 Chromosome 6, 33165616: 33165616
48 COL11A2 NM_080680.2(COL11A2): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs727504460 GRCh38 Chromosome 6, 33168547: 33168547
49 COL11A2 NM_080680.2(COL11A2): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs727504460 GRCh37 Chromosome 6, 33136324: 33136324
50 COL11A2 NM_080680.2(COL11A2): c.3616C> T (p.Leu1206=) single nucleotide variant Likely benign rs147576338 GRCh37 Chromosome 6, 33137844: 33137844

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 matrix GO:0031012 9.5 COL11A1 COL11A2 COL2A1
2 endoplasmic reticulum lumen GO:0005788 9.43 COL11A1 COL11A2 COL2A1
3 collagen-containing extracellular matrix GO:0062023 9.33 COL11A1 COL11A2 COL2A1
4 collagen trimer GO:0005581 9.13 COL11A1 COL11A2 COL2A1
5 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 extracellular matrix organization GO:0030198 9.58 COL11A1 COL11A2 COL2A1
2 visual perception GO:0007601 9.55 COL11A1 COL2A1
3 ossification GO:0001503 9.54 COL11A1 COL2A1
4 skeletal system development GO:0001501 9.54 COL11A2 COL2A1 NKX3-2
5 roof of mouth development GO:0060021 9.52 COL11A2 COL2A1
6 inner ear morphogenesis GO:0042472 9.51 COL11A1 COL2A1
7 sensory perception of sound GO:0007605 9.5 COL11A1 COL11A2 COL2A1
8 heart morphogenesis GO:0003007 9.49 COL11A1 COL2A1
9 chondrocyte differentiation GO:0002062 9.48 COL11A2 COL2A1
10 tissue homeostasis GO:0001894 9.46 COL11A2 COL2A1
11 cartilage condensation GO:0001502 9.43 COL11A1 COL2A1
12 cartilage development GO:0051216 9.33 COL11A1 COL11A2 COL2A1
13 proteoglycan metabolic process GO:0006029 9.26 COL11A1 COL2A1
14 collagen fibril organization GO:0030199 9.13 COL11A1 COL11A2 COL2A1
15 skeletal system morphogenesis GO:0048705 8.92 COL11A1 COL11A2 COL2A1 NKX3-2

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
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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