MCID: OTS002
MIFTS: 44

Otospondylomegaepiphyseal Dysplasia

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

Aliases & Classifications for Otospondylomegaepiphyseal Dysplasia

MalaCards integrated aliases for Otospondylomegaepiphyseal Dysplasia:

Name: Otospondylomegaepiphyseal Dysplasia 12 72 24 25 29 13 14
Chondrodystrophy with Sensorineural Deafness 12 24 25
Nance-Sweeney Chondrodysplasia 12 25
Nance-Insley Syndrome 12 25
Osmed 24 25
Oto-Spondylo-Megaepiphyseal Dysplasia 25
Chondrodystrophy with Dysplasia 72
Mega-Epiphyseal Dwarfism 25
Megaepiphyseal Dwarfism 69
Insley-Astley Syndrome 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-Zweymüller 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 strabismus, platyspondyly and kyphosis. An important gene associated with Otospondylomegaepiphyseal Dysplasia is COL11A2 (Collagen Type XI Alpha 2 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and Focal Adhesion. Affiliated tissues include bone and skin, and related phenotypes are craniofacial and hearing/vestibular/ear

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 : 72 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 Recessive Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

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

(show all 29)
id Related Disease Score Top Affiliating Genes
1 otospondylomegaepiphyseal dysplasia, autosomal recessive 12.3
2 otospondylomegaepiphyseal dysplasia, autosomal dominant 12.2
3 megaepiphyseal dwarfism 10.9
4 moved to 184840 10.9
5 progeroid syndrome, neonatal 10.2 COL11A2 COL2A1
6 deafness, autosomal dominant 13 10.1 COL11A2 COL2A1
7 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 10.1 COL11A2 COL2A1
8 alveolar soft-part sarcoma 9.9 COL11A2 COL2A1
9 osteoarthritis 9.9
10 skin fragility-woolly hair-palmoplantar keratoderma syndrome 9.9 COL11A2 COL2A1
11 marshall syndrome 9.8 COL11A1 COL2A1
12 plantar nerve lesion 9.8 COL11A1 COL2A1
13 moyamoya disease 9.8 COL11A1 COL2A1
14 ureter cancer 9.8 COL11A1 COL2A1
15 wagner syndrome 9.8 COL11A1 COL2A1
16 adult-onset still's disease 9.7 COL11A1 COL2A1
17 smed strudwick type 9.7 COL11A1 COL2A1
18 humeroradial synostosis 9.7 COL11A1 COL11A2
19 acromesomelic dysplasia 9.7 COL11A1 COL2A1
20 achondrogenesis, type ii or hypochondrogenesis 9.7 COL11A1 COL2A1
21 sulfite oxidase deficiency 9.5 COL11A1 COL2A1
22 clubfoot 9.5 COL11A1 COL2A1
23 testicular granulosa cell tumor 9.4 COL11A1 COL2A1
24 laryngomalacia 9.3 COL11A1 COL11A2 COL2A1
25 charcot-marie-tooth disease type 5 9.3 COL11A1 COL11A2 COL2A1
26 intermediate uveitis 9.3 COL11A1 COL11A2 COL2A1
27 myasthenic syndrome, congenital, 2a, slow-channel 9.3 COL11A1 COL11A2 COL2A1
28 paget's disease of bone 9.2 COL11A1 COL2A1
29 craniodiaphyseal dysplasia 8.7 COL11A1 COL11A2 COL2A1 NKX3-2

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

UMLS symptoms related to Otospondylomegaepiphyseal Dysplasia:


arthralgia

MGI Mouse Phenotypes related to Otospondylomegaepiphyseal Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.56 COL11A1 COL11A2 COL2A1 NKX3-2
2 hearing/vestibular/ear MP:0005377 9.46 COL11A2 COL2A1 NKX3-2 COL11A1
3 limbs/digits/tail MP:0005371 9.13 COL11A1 COL2A1 NKX3-2
4 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:

id Genetic test Affiliating Genes
1 Otospondylomegaepiphyseal Dysplasia 29 24 COL11A2

Anatomical Context for Otospondylomegaepiphyseal Dysplasia

MalaCards organs/tissues related to Otospondylomegaepiphyseal Dysplasia:

39
Bone, Skin

Publications for Otospondylomegaepiphyseal Dysplasia

Articles related to Otospondylomegaepiphyseal Dysplasia:

id 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
id 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.2492C> A (p.Ser831Ter) single nucleotide variant Pathogenic rs121912949 GRCh37 Chromosome 6, 33141825: 33141825
3 COL11A2 NM_080680.2(COL11A2): c.3991C> T (p.Arg1331Ter) single nucleotide variant Pathogenic rs121912951 GRCh37 Chromosome 6, 33135599: 33135599
4 COL11A2 COL11A2, 1-BP DEL, 3962G deletion Pathogenic
5 COL11A2 NM_080680.2(COL11A2): c.2081_2085delGGAAGinsA (p.Gly694Glufs) indel Pathogenic rs886044584 GRCh37 Chromosome 6, 33144528: 33144532

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:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.43 COL11A1 COL11A2 COL2A1
2 endoplasmic reticulum lumen GO:0005788 9.33 COL11A1 COL11A2 COL2A1
3 collagen trimer GO:0005581 9.13 COL11A1 COL11A2 COL2A1
4 collagen type XI trimer GO:0005592 8.62 COL11A1 COL11A2

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.58 COL11A2 COL2A1 NKX3-2
2 extracellular matrix organization GO:0030198 9.56 COL11A1 COL2A1
3 visual perception GO:0007601 9.55 COL11A1 COL2A1
4 ossification GO:0001503 9.54 COL11A1 COL2A1
5 sensory perception of sound GO:0007605 9.54 COL11A1 COL11A2 COL2A1
6 palate development GO:0060021 9.52 COL11A2 COL2A1
7 inner ear morphogenesis GO:0042472 9.51 COL11A1 COL2A1
8 heart morphogenesis GO:0003007 9.49 COL11A1 COL2A1
9 chondrocyte differentiation GO:0002062 9.48 COL11A2 COL2A1
10 cartilage condensation GO:0001502 9.46 COL11A1 COL2A1
11 tissue homeostasis GO:0001894 9.43 COL11A2 COL2A1
12 cartilage development GO:0051216 9.43 COL11A1 COL11A2 COL2A1
13 collagen catabolic process GO:0030574 9.33 COL11A1 COL11A2 COL2A1
14 proteoglycan metabolic process GO:0006029 9.32 COL11A1 COL2A1
15 collagen fibril organization GO:0030199 9.13 COL11A1 COL11A2 COL2A1
16 skeletal system morphogenesis GO:0048705 8.92 COL11A1 COL11A2 COL2A1 NKX3-2

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

id Name GO ID Score Top Affiliating Genes
1 protein binding, bridging GO:0030674 9.16 COL11A1 COL11A2
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL11A2 COL2A1
3 extracellular matrix structural constituent GO:0005201 8.8 COL11A1 COL11A2 COL2A1

Sources for Otospondylomegaepiphyseal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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