MCID: OTS002
MIFTS: 44

Otospondylomegaepiphyseal Dysplasia

Categories: Bone diseases, Ear diseases, Genetic diseases, Rare diseases, Fetal 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-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 arthralgia 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 epiphysis in, foot and bone, and related phenotypes are cleft palate and malar flattening

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

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 cleft palate 32 hallmark (90%) HP:0000175
2 malar flattening 32 hallmark (90%) HP:0000272
3 sensorineural hearing impairment 32 hallmark (90%) HP:0000407
4 depressed nasal ridge 32 hallmark (90%) HP:0000457
5 anteverted nares 32 hallmark (90%) HP:0000463
6 strabismus 32 occasional (7.5%) HP:0000486
7 platyspondyly 32 hallmark (90%) HP:0000926
8 abnormality of the metaphysis 32 hallmark (90%) HP:0000944
9 abnormality of the skin 32 frequent (33%) HP:0000951
10 joint stiffness 32 hallmark (90%) HP:0001387
11 ventricular septal defect 32 occasional (7.5%) HP:0001629
12 kyphosis 32 frequent (33%) HP:0002808
13 micromelia 32 hallmark (90%) HP:0002983
14 hyperlordosis 32 frequent (33%) HP:0003307
15 synostosis of carpal bones 32 occasional (7.5%) HP:0005048
16 recurrent pneumonia 32 frequent (33%) HP:0006532
17 feeding difficulties in infancy 32 frequent (33%) HP:0008872
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 NKX3-2 COL11A1 COL2A1
4 respiratory system MP:0005388 9.13 NKX3-2 COL11A1 COL2A1
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 COL2A1

Anatomical Context for Otospondylomegaepiphyseal Dysplasia

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

19
Epiphysis In, Foot

MalaCards organs/tissues related to Otospondylomegaepiphyseal Dysplasia:

41
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
(show top 50) (show all 179)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL11A2 COL11A2, 1-BP DEL, 3962G deletion Pathogenic
2 COL11A2 NM_080680.2(COL11A2): c.1981G> A (p.Gly661Arg) single nucleotide variant Pathogenic rs121912945 GRCh37 Chromosome 6, 33144993: 33144993
3 COL11A2 NM_080680.2(COL11A2): c.1981G> A (p.Gly661Arg) single nucleotide variant Pathogenic rs121912945 GRCh38 Chromosome 6, 33177216: 33177216
4 COL11A2 NM_080680.2(COL11A2): c.2492C> A (p.Ser831Ter) single nucleotide variant Pathogenic rs121912949 GRCh37 Chromosome 6, 33141825: 33141825
5 COL11A2 NM_080680.2(COL11A2): c.2492C> A (p.Ser831Ter) single nucleotide variant Pathogenic rs121912949 GRCh38 Chromosome 6, 33174048: 33174048
6 COL11A2 NM_080680.2(COL11A2): c.3991C> T (p.Arg1331Ter) single nucleotide variant Pathogenic rs121912951 GRCh37 Chromosome 6, 33135599: 33135599
7 COL11A2 NM_080680.2(COL11A2): c.3991C> T (p.Arg1331Ter) single nucleotide variant Pathogenic rs121912951 GRCh38 Chromosome 6, 33167822: 33167822
8 COL11A2 NM_080680.2(COL11A2): c.*4C> T single nucleotide variant Benign/Likely benign rs186720023 GRCh37 Chromosome 6, 33131451: 33131451
9 COL11A2 NM_080680.2(COL11A2): c.*4C> T single nucleotide variant Benign/Likely benign rs186720023 GRCh38 Chromosome 6, 33163674: 33163674
10 COL11A2 NM_080680.2(COL11A2): c.4884G> C (p.Glu1628Asp) single nucleotide variant Benign/Likely benign rs2229790 GRCh37 Chromosome 6, 33132230: 33132230
11 COL11A2 NM_080680.2(COL11A2): c.4884G> C (p.Glu1628Asp) single nucleotide variant Benign/Likely benign rs2229790 GRCh38 Chromosome 6, 33164453: 33164453
12 COL11A2 NM_080680.2(COL11A2): c.4799G> A (p.Arg1600Gln) single nucleotide variant Benign/Likely benign rs1799912 GRCh37 Chromosome 6, 33132693: 33132693
13 COL11A2 NM_080680.2(COL11A2): c.4799G> A (p.Arg1600Gln) single nucleotide variant Benign/Likely benign rs1799912 GRCh38 Chromosome 6, 33164916: 33164916
14 COL11A2 NM_080680.2(COL11A2): c.4683A> G (p.Thr1561=) single nucleotide variant Likely benign rs34055850 GRCh37 Chromosome 6, 33133393: 33133393
15 COL11A2 NM_080680.2(COL11A2): c.4683A> G (p.Thr1561=) single nucleotide variant Likely benign rs34055850 GRCh38 Chromosome 6, 33165616: 33165616
16 COL11A2 NM_080680.2(COL11A2): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs727504460 GRCh37 Chromosome 6, 33136324: 33136324
17 COL11A2 NM_080680.2(COL11A2): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs727504460 GRCh38 Chromosome 6, 33168547: 33168547
18 COL11A2 NM_080680.2(COL11A2): c.3616C> T (p.Leu1206=) single nucleotide variant Likely benign rs147576338 GRCh37 Chromosome 6, 33137844: 33137844
19 COL11A2 NM_080680.2(COL11A2): c.3616C> T (p.Leu1206=) single nucleotide variant Likely benign rs147576338 GRCh38 Chromosome 6, 33170067: 33170067
20 COL11A2 NM_080680.2(COL11A2): c.3576C> T (p.Gly1192=) single nucleotide variant Likely benign rs138380958 GRCh37 Chromosome 6, 33138109: 33138109
21 COL11A2 NM_080680.2(COL11A2): c.3576C> T (p.Gly1192=) single nucleotide variant Likely benign rs138380958 GRCh38 Chromosome 6, 33170332: 33170332
22 COL11A2 NM_080680.2(COL11A2): c.2186G> A (p.Arg729Gln) single nucleotide variant Benign/Likely benign rs61730262 GRCh37 Chromosome 6, 33144064: 33144064
23 COL11A2 NM_080680.2(COL11A2): c.2186G> A (p.Arg729Gln) single nucleotide variant Benign/Likely benign rs61730262 GRCh38 Chromosome 6, 33176287: 33176287
24 COL11A2 NM_080680.2(COL11A2): c.1287C> T (p.Gly429=) single nucleotide variant Likely benign rs549704545 GRCh37 Chromosome 6, 33148107: 33148107
25 COL11A2 NM_080680.2(COL11A2): c.1287C> T (p.Gly429=) single nucleotide variant Likely benign rs549704545 GRCh38 Chromosome 6, 33180330: 33180330
26 COL11A2 NM_080680.2(COL11A2): c.353G> C (p.Arg118Pro) single nucleotide variant Likely benign rs41268014 GRCh37 Chromosome 6, 33156845: 33156845
27 COL11A2 NM_080680.2(COL11A2): c.353G> C (p.Arg118Pro) single nucleotide variant Likely benign rs41268014 GRCh38 Chromosome 6, 33189068: 33189068
28 COL11A2 NM_080680.2(COL11A2): c.5000G> A (p.Arg1667His) single nucleotide variant Benign/Likely benign rs146555195 GRCh37 Chromosome 6, 33132114: 33132114
29 COL11A2 NM_080680.2(COL11A2): c.5000G> A (p.Arg1667His) single nucleotide variant Benign/Likely benign rs146555195 GRCh38 Chromosome 6, 33164337: 33164337
30 COL11A2 NM_080680.2(COL11A2): c.4521G> A (p.Gln1507=) single nucleotide variant Benign/Likely benign rs114580597 GRCh37 Chromosome 6, 33133555: 33133555
31 COL11A2 NM_080680.2(COL11A2): c.4521G> A (p.Gln1507=) single nucleotide variant Benign/Likely benign rs114580597 GRCh38 Chromosome 6, 33165778: 33165778
32 COL11A2 NM_080680.2(COL11A2): c.4458T> A (p.Gly1486=) single nucleotide variant Benign/Likely benign rs143186319 GRCh37 Chromosome 6, 33133732: 33133732
33 COL11A2 NM_080680.2(COL11A2): c.4458T> A (p.Gly1486=) single nucleotide variant Benign/Likely benign rs143186319 GRCh38 Chromosome 6, 33165955: 33165955
34 COL11A2 NM_080680.2(COL11A2): c.2336C> T (p.Pro779Leu) single nucleotide variant Benign/Likely benign rs150877886 GRCh37 Chromosome 6, 33143391: 33143391
35 COL11A2 NM_080680.2(COL11A2): c.2336C> T (p.Pro779Leu) single nucleotide variant Benign/Likely benign rs150877886 GRCh38 Chromosome 6, 33175614: 33175614
36 COL11A2 NM_080680.2(COL11A2): c.3111G> T (p.Pro1037=) single nucleotide variant Benign/Likely benign rs146093235 GRCh37 Chromosome 6, 33139529: 33139529
37 COL11A2 NM_080680.2(COL11A2): c.3111G> T (p.Pro1037=) single nucleotide variant Benign/Likely benign rs146093235 GRCh38 Chromosome 6, 33171752: 33171752
38 COL11A2 NM_080680.2(COL11A2): c.3699C> T (p.Arg1233=) single nucleotide variant Benign/Likely benign rs151098305 GRCh37 Chromosome 6, 33137259: 33137259
39 COL11A2 NM_080680.2(COL11A2): c.3699C> T (p.Arg1233=) single nucleotide variant Benign/Likely benign rs151098305 GRCh38 Chromosome 6, 33169482: 33169482
40 COL11A2 NM_080680.2(COL11A2): c.4652G> A (p.Arg1551Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145343609 GRCh37 Chromosome 6, 33133424: 33133424
41 COL11A2 NM_080680.2(COL11A2): c.4652G> A (p.Arg1551Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145343609 GRCh38 Chromosome 6, 33165647: 33165647
42 COL11A2 NM_001163771.1(COL11A2): c.688G> T (p.Gly230Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141430703 GRCh37 Chromosome 6, 33154514: 33154514
43 COL11A2 NM_001163771.1(COL11A2): c.688G> T (p.Gly230Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141430703 GRCh38 Chromosome 6, 33186737: 33186737
44 COL11A2 NM_080680.2(COL11A2): c.5071-5T> G single nucleotide variant Benign/Likely benign rs368309085 GRCh37 Chromosome 6, 33131600: 33131600
45 COL11A2 NM_080680.2(COL11A2): c.5071-5T> G single nucleotide variant Benign/Likely benign rs368309085 GRCh38 Chromosome 6, 33163823: 33163823
46 COL11A2 NM_080680.2(COL11A2): c.4751-9A> G single nucleotide variant Likely benign rs555680585 GRCh37 Chromosome 6, 33132750: 33132750
47 COL11A2 NM_080680.2(COL11A2): c.4751-9A> G single nucleotide variant Likely benign rs555680585 GRCh38 Chromosome 6, 33164973: 33164973
48 COL11A2 NM_080680.2(COL11A2): c.4392+12C> T single nucleotide variant Benign/Likely benign rs117267045 GRCh37 Chromosome 6, 33134278: 33134278
49 COL11A2 NM_080680.2(COL11A2): c.4392+12C> T single nucleotide variant Benign/Likely benign rs117267045 GRCh38 Chromosome 6, 33166501: 33166501
50 COL11A2 NM_080680.2(COL11A2): c.4383C> T (p.Pro1461=) single nucleotide variant Benign/Likely benign rs148262058 GRCh38 Chromosome 6, 33166522: 33166522

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 endoplasmic reticulum lumen GO:0005788 9.33 COL11A1 COL11A2 COL2A1
2 extracellular matrix GO:0031012 9.26 COL11A1 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 roof of mouth 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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