MCID: OTS002
MIFTS: 45

Otospondylomegaepiphyseal Dysplasia

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

Aliases & Classifications for Otospondylomegaepiphyseal Dysplasia

MalaCards integrated aliases for Otospondylomegaepiphyseal Dysplasia:

Name: Otospondylomegaepiphyseal Dysplasia 12 72 24 28 13 14
Chondrodystrophy with Sensorineural Deafness 12 24
Nance-Sweeney Chondrodysplasia 12 24
Nance-Insley Syndrome 12 24
Oto-Spondylo-Megaepiphyseal Dysplasia 24
Mega-Epiphyseal Dwarfism 24
Megaepiphyseal Dwarfism 69
Insley-Astley Syndrome 24
Osmed 24

Classifications:



Summaries for Otospondylomegaepiphyseal Dysplasia

Genetics Home Reference : 24 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 cleft palate, malar flattening and sensorineural hearing impairment. 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 epiphysis in, foot and bone, 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

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:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 cleft palate 31 hallmark (90%) HP:0000175
2 malar flattening 31 hallmark (90%) HP:0000272
3 sensorineural hearing impairment 31 hallmark (90%) HP:0000407
4 depressed nasal ridge 31 hallmark (90%) HP:0000457
5 anteverted nares 31 hallmark (90%) HP:0000463
6 strabismus 31 occasional (7.5%) HP:0000486
7 platyspondyly 31 hallmark (90%) HP:0000926
8 abnormality of the metaphysis 31 hallmark (90%) HP:0000944
9 abnormality of the skin 31 frequent (33%) HP:0000951
10 joint stiffness 31 hallmark (90%) HP:0001387
11 ventricular septal defect 31 occasional (7.5%) HP:0001629
12 kyphosis 31 frequent (33%) HP:0002808
13 micromelia 31 hallmark (90%) HP:0002983
14 hyperlordosis 31 frequent (33%) HP:0003307
15 synostosis of carpal bones 31 occasional (7.5%) HP:0005048
16 recurrent pneumonia 31 frequent (33%) HP:0006532
17 feeding difficulties in infancy 31 frequent (33%) HP:0008872
18 abnormal lacrimal duct morphology 31 occasional (7.5%) HP:0011481

UMLS symptoms related to Otospondylomegaepiphyseal Dysplasia:


arthralgia

MGI Mouse Phenotypes related to Otospondylomegaepiphyseal Dysplasia:

43
# 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 COL11A1 COL11A2 COL2A1 NKX3-2
3 limbs/digits/tail MP:0005371 9.13 COL2A1 NKX3-2 COL11A1
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:

# Genetic test Affiliating Genes
1 Otospondylomegaepiphyseal Dysplasia 28 COL11A2 COL2A1

Anatomical Context for Otospondylomegaepiphyseal Dysplasia

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

18
Epiphysis In, Foot

MalaCards organs/tissues related to Otospondylomegaepiphyseal Dysplasia:

38
Bone, Skin

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
# 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:

# 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)
# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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