OSMEDB
MCID: OTS013
MIFTS: 57

Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive (OSMEDB)

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

Aliases & Classifications for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

MalaCards integrated aliases for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:

Name: Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 56 12 73 29 6
Otospondylomegaepiphyseal Dysplasia 52 25 58 29 13 15
Osmed 56 52 25 58 73 54
Chondrodystrophy with Sensorineural Deafness 56 12 52 25 73
Nance-Insley Syndrome 56 12 52 25 73
Nance-Sweeney Chondrodysplasia 56 12 25 73
Insley-Astley Syndrome 52 25 73
Osmedb 56 12 73
Oto-Spondylo-Megaepiphyseal Dysplasia 25 36
Osmed Syndrome 74 52
Weissenbacher-Zweymuller Syndrome, Formerly; Wzs, Formerly 56
Weissenbacher-Zweymuller Syndrome, Formerly 56
Oto-Spondylo-Mega-Epiphyseal Dysplasia 52
Dysplasia, Otospondylomegaepiphyseal 39
Nance Sweeney Chondrodysplasia 52
Mega-Epiphyseal Dwarfism 25
Megaepiphyseal Dwarfism 71
Wzs, Formerly 56

Characteristics:

Orphanet epidemiological data:

58
otospondylomegaepiphyseal dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
allelic to stickler syndrome, type 3 and weissenbacher-zweymuller syndrome


HPO:

31
otospondylomegaepiphyseal dysplasia, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1427 Definition Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss , enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies. Epidemiology The prevalence is unknown but less than 30 cases have been described in the literature so far. Clinical description Typical facial features include midface hypoplasia, a short nose with anteverted nares and a flat nasal bridge, a long philtrum, cleft palate /bifid uvula, micrognathia , and hypertelorism. Joint pain and restricted mobility of the metacarpophalangeal joints appear during the second decade of life. The sensorineural hearing loss is generally described as moderate and nonprogressive. Early onset of osteoarthritis has also been reported. Etiology OSMED is classed among the type XI collagenopathies as the majority of reported cases have been associated with homozygous mutations in the COL11A2 gene (6p21.3), encoding the alpha2 chain of type XI collagen. Diagnostic methods Diagnosis is made on the basis of the clinical phenotype and typical radiographic findings: shortening of the long bones (humerus, radius, ulna, tibia, and fibula) with large epiphyses and metaphyseal flaring, coronal clefting and mild to moderate platyspondyly. Differential diagnosis OSMED shows significant clinical overlap with Weissenbacher-Zweymuller syndrome (WZS) and Stickler syndrome (see these terms). Whilst OSMED and Stickler syndrome can be distinguished early in life due to the absence of ocular anomalies in OSMED, differentiation of OSMED and WZS (also associated with heterozygous mutations in the COL11A2 gene) may be more problematic. Genetic counseling OSMED is inherited as an autosomal recessive trait . Management and treatment Treatment is symptomatic only, involving closure of the cleft palate, audiometry and adapted management of the hearing loss, and treatment of the joint pain. Prognosis The prognosis depends on the severity of the osteoarthritis (which may require early joint replacement), hearing loss and joint pain. Visit the Orphanet disease page for more resources.

MalaCards based summary : Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive, also known as otospondylomegaepiphyseal dysplasia, is related to otospondylomegaepiphyseal dysplasia, autosomal dominant and deafness, autosomal dominant 13, and has symptoms including arthralgia An important gene associated with Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive is COL11A2 (Collagen Type XI Alpha 2 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drug Anesthetics has been mentioned in the context of this disorder. Affiliated tissues include epiphysis in, hand and foot, and related phenotypes are joint stiffness and sensorineural hearing impairment

Disease Ontology : 12 An osteochondrodysplasia that results from mutations autosomal recessive inheritance of 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.

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. People with OSMED are often shorter than average because the long bones in their legs are unusually short. Other skeletal features include enlarged joints; short arms, hands, and fingers; and flattened bones of the spine (platyspondyly). People with the disorder often experience back and joint pain, limited joint movement, and arthritis that begins early in life. Severe high-frequency hearing loss is common in people with OSMED. Typical facial features include protruding eyes; a flattened bridge of the nose; an upturned nose with a large, rounded tip; and a small lower jaw. Almost all affected infants are born with an opening in the roof of the mouth (a cleft palate).

OMIM : 56 Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and typical facial features (summary by Harel et al., 2005). (215150)

KEGG : 36 Otospondylomegaepiphyseal dysplasia (OSMED) is a very rare disorder due to mutations of type XI collagen. It could be either of autosomal dominant or recessive etiology. OSMED is characterized by typical facial features, short extremities, enlarged thick epiphyses and abnormalities in vertebral bodies, and non-progressive sensorineural hearing loss.

UniProtKB/Swiss-Prot : 73 Otospondylomegaepiphyseal dysplasia, autosomal recessive: An autosomal recessive form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis.

Wikipedia : 74 Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive disorder of bone growth that... more...

Related Diseases for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Diseases in the Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant family:

Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

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

(show top 50) (show all 127)
# Related Disease Score Top Affiliating Genes
1 otospondylomegaepiphyseal dysplasia, autosomal dominant 32.9 TECTB COL9A1 COL5A2 COL2A1 COL11A2 COL11A1
2 deafness, autosomal dominant 13 30.4 TECTA COL11A2
3 cleft palate, isolated 29.7 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
4 kniest dysplasia 29.6 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
5 stickler syndrome 29.5 COL9A3 COL9A2 COL9A1 COL5A2 COL2A1 COL11A2
6 osteoarthritis 29.5 UCMA COMP COL9A1 COL2A1 COL11A2 COL10A1
7 myopia 29.1 FMOD COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
8 marshall syndrome 29.1 FMOD COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
9 sensorineural hearing loss 28.9 TECTB TECTA STRC COL9A2 COL2A1 COL11A2
10 megaepiphyseal dwarfism 11.2
11 stickler syndrome, type i 10.5
12 leukemia 10.5
13 fibrochondrogenesis 1 10.4 COL11A2 COL11A1
14 melanoma 10.4
15 deafness, autosomal dominant 21 10.4 TECTA COL11A2
16 coxa vara 10.4 COL2A1 COL10A1
17 kohler's disease 10.3 COL2A1 COL11A2 COL11A1
18 skeletal dysplasias 10.3 COMP COL2A1
19 scheuermann disease 10.3 COL9A3 COL2A1
20 retinal perforation 10.3 COL2A1 COL11A2 COL11A1
21 deafness, autosomal dominant 44 10.3 TECTA COL11A2
22 deafness, autosomal dominant 4b 10.3 TECTB TECTA
23 schneckenbecken dysplasia 10.3 COL2A1 COL11A2 COL11A1
24 cleft soft palate 10.3 COL2A1 COL11A2 COL11A1
25 macroglossia 10.3 COL9A1 COL2A1 COL11A1
26 back pain 10.3 COL9A3 COL9A2
27 branchiootic syndrome 1 10.3
28 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
29 skin melanoma 10.3
30 deafness, autosomal recessive 53 10.3 TECTB TECTA COL11A2
31 deafness, autosomal recessive 21 10.3 TECTB TECTA COL11A2
32 deafness, autosomal dominant 12 10.2 TECTB TECTA COL11A2
33 deafness, autosomal dominant 10 10.2 TECTA COL11A2
34 vitreoretinal degeneration 10.2 COL9A2 COL2A1 COL11A1
35 cartilage disease 10.2 COMP COL2A1 COL10A1
36 pectus carinatum 10.2 COL5A2 COL2A1
37 multiple sclerosis 10.2
38 endosteal hyperostosis, autosomal dominant 10.2
39 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.2
40 thrombocytosis 10.2
41 lymphopenia 10.2
42 lung disease 10.2
43 metachondromatosis 10.2 COL2A1 COL10A1
44 deafness, autosomal dominant 6 10.2 TECTA COL11A2
45 epiphyseal dysplasia, multiple, 6 10.2 COL9A3 COL9A2 COL9A1
46 epiphyseal dysplasia, multiple, 3 10.2 COL9A3 COL9A2 COL9A1
47 bone deterioration disease 10.2 COL9A3 COL9A2 COL2A1
48 atelosteogenesis 10.1 COL9A3 COL9A2 COL9A1
49 bone structure disease 10.1 COL9A3 COL9A2 COL2A1
50 campomelic dysplasia 10.1 COL9A1 COL2A1 COL11A2 COL10A1

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



Diseases related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Symptoms & Phenotypes for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Human phenotypes related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:

58 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
3 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
4 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
5 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
6 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
7 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
8 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
9 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
10 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
11 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
12 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
13 recurrent pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0006532
14 abnormality of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0000951
15 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
16 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
17 synostosis of carpal bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0005048
18 abnormal lacrimal duct morphology 31 occasional (7.5%) HP:0011481
19 beaking of vertebral bodies 31 HP:0004568
20 short stature 31 HP:0004322
21 flexion contracture 31 HP:0001371
22 epiphyseal dysplasia 31 HP:0002656
23 arthralgia 31 HP:0002829
24 abnormal form of the vertebral bodies 58 Very frequent (99-80%)
25 micrognathia 31 HP:0000347
26 bulbous nose 31 HP:0000414
27 midface retrusion 31 HP:0011800
28 short metacarpal 31 HP:0010049
29 abnormality of the lacrimal duct 58 Occasional (29-5%)
30 short palm 31 HP:0004279
31 mixed hearing impairment 31 HP:0000410
32 short phalanx of finger 31 HP:0009803
33 short long bone 31 HP:0003026
34 pierre-robin sequence 31 HP:0000201
35 coronal cleft vertebrae 31 HP:0003417
36 enlarged joints 31 HP:0003037
37 flared metaphysis 31 HP:0003015
38 lumbar hyperlordosis 31 HP:0002938
39 large tarsal bones 31 HP:0004679
40 premature osteoarthritis 31 HP:0003088
41 prominent interphalangeal joints 31 HP:0006237
42 aplasia/hypoplasia of the capital femoral epiphysis 31 HP:0005003

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
anteverted nares
bulbous nasal tip

Skeletal:
epiphyseal dysplasia

Skeletal Limbs:
enlarged joints
premature osteoarthritis
joint pains
metaphyseal flaring
joint contractures
more
Skeletal Hands:
prominent interphalangeal joints
short metacarpals
short hands
short fingers

Head And Neck Ears:
sensorineural hearing loss
mixed hearing loss

Skeletal Pelvis:
square iliac wings

Respiratory Lung:
recurrent pulmonary infections

Growth Height:
short stature

Head And Neck Mouth:
cleft palate
pierre-robin sequence

Skeletal Feet:
large tarsal bones

Head And Neck Face:
midface hypoplasia
small jaw

Skeletal Skull:
mandibular hypoplasia

Head And Neck Eyes:
no ocular symptoms

Skeletal Spine:
increased lumbar lordosis
vertebral coronal clefts (newborn)
enlarged odontoid (childhood)
platyspondyly (childhood)
anterior vertebral wedging (childhood)

Clinical features from OMIM:

215150

UMLS symptoms related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:


arthralgia

MGI Mouse Phenotypes related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.81 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
2 limbs/digits/tail MP:0005371 9.5 COL10A1 COL11A1 COL2A1 COL9A1 COL9A2 COMP
3 skeleton MP:0005390 9.36 COL10A1 COL11A1 COL11A2 COL2A1 COL5A2 COL9A1

Drugs & Therapeutics for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Drugs for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Use of Self Inflating Tissue Expanders In The Treatment Of Alveolar Cleft Unknown status NCT03010345 Phase 1
2 Clinical and Optical Evaluation of Self-filling Osmotic Tissue Expander in Augmenting Keratinized Tissue Around Dentulous Region Completed NCT03753906

Search NIH Clinical Center for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Genetic Tests for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Genetic tests related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 29 COL11A2
2 Otospondylomegaepiphyseal Dysplasia 29

Anatomical Context for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

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

19
Epiphysis In, Hand, Foot

MalaCards organs/tissues related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:

40
Bone, Eye, Skin

Publications for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Articles related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:

(show all 21)
# Title Authors PMID Year
1
COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED). 6 61 56 54
15558753 2005
2
Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene. 6 56 54
16637051 2006
3
Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene. 54 6 56
9188673 1997
4
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. 54 61 6
10677296 2000
5
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). 54 56
9805126 1998
6
Nance-Sweeney chondrodysplasia--a further case? 56
8818448 1996
7
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. 56
7859284 1995
8
Identical twins with Weissenbacher-Zweymüller syndrome and neural tube defect. 56
8456835 1993
9
Weissenbacher-Zweymüller syndrome: a distinct autosomal recessive skeletal dysplasia. 56
1415350 1992
10
Weissenbacher-Zweymuller syndrome: long-term follow-up of growth and psychomotor development. 56
1723388 1991
11
Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome. 56
4014313 1985
12
A bone dysplasia with deafness. 56
4830146 1974
13
Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene. 61 54
18381781 2008
14
Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED). 61 54
11668593 2001
15
Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature. 61
32341816 2020
16
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. 61
25633957 2015
17
Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2. 61
21208667 2011
18
A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient. 61
21204229 2011
19
Gene symbol: COL11A2. Disease: Otospondylomegaepiphyseal dysplasia. 61
18846651 2008
20
A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia. 54
16189708 2005
21
Otospondylomegaepiphyseal dysplasia: report of three sibs and review of the literature. 61
8205326 1994

Variations for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

ClinVar genetic disease variations for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:

6 (show top 50) (show all 158) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL11A2 NM_080680.3(COL11A2):c.1292del (p.Pro431fs)deletion Pathogenic 802199 6:33148102-33148102 6:33180325-33180325
2 COL11A2 NM_080680.3(COL11A2):c.67dup (p.Ala23fs)duplication Pathogenic 802200 6:33159950-33159951 6:33192173-33192174
3 COL2A1 NM_001844.5(COL2A1):c.1420-7_1430deldeletion Pathogenic 560983 rs1565683138 12:48380216-48380233 12:47986433-47986450
4 COL11A2 NM_080680.3(COL11A2):c.1981G>A (p.Gly661Arg)SNV Pathogenic 17121 rs121912945 6:33144993-33144993 6:33177216-33177216
5 COL11A2 NM_080680.3(COL11A2):c.2492C>A (p.Ser831Ter)SNV Pathogenic 17126 rs121912949 6:33141825-33141825 6:33174048-33174048
6 COL11A2 NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter)SNV Pathogenic 17128 rs121912951 6:33135599-33135599 6:33167822-33167822
7 COL11A2 NM_080680.2(COL11A2):c.3962delG (p.Gly1321Valfs)deletion Pathogenic 17130 rs1562315748 6:33135628-33135628 6:33167851-33167851
8 COL11A2 NM_080680.3(COL11A2):c.4231-4C>GSNV Conflicting interpretations of pathogenicity 904453 6:33134608-33134608 6:33166831-33166831
9 COL11A2 NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)SNV Conflicting interpretations of pathogenicity 46556 rs145499142 6:33146747-33146747 6:33178970-33178970
10 COL11A2 NM_080680.3(COL11A2):c.1782C>T (p.Asp594=)SNV Conflicting interpretations of pathogenicity 46557 rs41266697 6:33146121-33146121 6:33178344-33178344
11 COL11A2 NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=)SNV Conflicting interpretations of pathogenicity 162976 rs34055850 6:33133393-33133393 6:33165616-33165616
12 COL11A2 NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=)SNV Conflicting interpretations of pathogenicity 178325 rs147576338 6:33137844-33137844 6:33170067-33170067
13 COL11A2 NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=)SNV Conflicting interpretations of pathogenicity 178326 rs138380958 6:33138109-33138109 6:33170332-33170332
14 COL11A2 NM_080680.3(COL11A2):c.2682G>A (p.Pro894=)SNV Conflicting interpretations of pathogenicity 178327 rs113067047 6:33141279-33141279 6:33173502-33173502
15 COL11A2 NM_080680.3(COL11A2):c.1287C>T (p.Gly429=)SNV Conflicting interpretations of pathogenicity 162993 rs549704545 6:33148107-33148107 6:33180330-33180330
16 COL11A2 NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro)SNV Conflicting interpretations of pathogenicity 162997 rs41268014 6:33156845-33156845 6:33189068-33189068
17 COL11A2 NM_080680.3(COL11A2):c.2254G>A (p.Val752Met)SNV Conflicting interpretations of pathogenicity 561277 rs201076557 6:33143807-33143807 6:33176030-33176030
18 COL11A2 NM_080680.3(COL11A2):c.579C>T (p.Ala193=)SNV Conflicting interpretations of pathogenicity 681633 6:33156166-33156166 6:33188389-33188389
19 COL11A2 NM_080680.3(COL11A2):c.622C>T (p.Leu208=)SNV Conflicting interpretations of pathogenicity 906471 6:33154580-33154580 6:33186803-33186803
20 COL11A2 NM_080680.3(COL11A2):c.191G>A (p.Arg64Gln)SNV Conflicting interpretations of pathogenicity 904929 6:33157138-33157138 6:33189361-33189361
21 COL11A2 NM_080680.3(COL11A2):c.-82C>GSNV Conflicting interpretations of pathogenicity 907531 6:33160099-33160099 6:33192322-33192322
22 COL11A2 NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys)SNV Conflicting interpretations of pathogenicity 907893 6:33137252-33137252 6:33169475-33169475
23 COL11A2 NM_080680.3(COL11A2):c.1698C>T (p.Leu566=)SNV Conflicting interpretations of pathogenicity 809916 6:33146477-33146477 6:33178700-33178700
24 COL11A2 NM_080680.3(COL11A2):c.5088G>A (p.Thr1696=)SNV Conflicting interpretations of pathogenicity 504742 rs142893093 6:33131578-33131578 6:33163801-33163801
25 COL11A2 NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln)SNV Conflicting interpretations of pathogenicity 505075 rs781633250 6:33131582-33131582 6:33163805-33163805
26 COL11A2 NM_080680.3(COL11A2):c.-21C>GSNV Conflicting interpretations of pathogenicity 515825 rs767695417 6:33160038-33160038 6:33192261-33192261
27 COL11A2 NM_080680.3(COL11A2):c.2709G>A (p.Pro903=)SNV Conflicting interpretations of pathogenicity 513695 rs779878105 6:33141152-33141152 6:33173375-33173375
28 COL11A2 NM_080680.3(COL11A2):c.2220G>A (p.Glu740=)SNV Conflicting interpretations of pathogenicity 547218 rs202032297 6:33143841-33143841 6:33176064-33176064
29 COL11A2 NM_080680.3(COL11A2):c.4983C>T (p.Asp1661=)SNV Conflicting interpretations of pathogenicity 906636 6:33132131-33132131 6:33164354-33164354
30 COL11A2 NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln)SNV Conflicting interpretations of pathogenicity 162981 rs142890313 6:33135285-33135285 6:33167508-33167508
31 COL11A2 NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val)SNV Conflicting interpretations of pathogenicity 178927 rs376797260 6:33140133-33140133 6:33172356-33172356
32 COL11A2 NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln)SNV Conflicting interpretations of pathogenicity 198337 rs145343609 6:33133424-33133424 6:33165647-33165647
33 COL11A2 NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=)SNV Conflicting interpretations of pathogenicity 198356 rs140017436 6:33132155-33132155 6:33164378-33164378
34 COL11A2 NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp)SNV Conflicting interpretations of pathogenicity 225318 rs141430703 6:33154514-33154514 6:33186737-33186737
35 COL11A2 NM_080680.3(COL11A2):c.4383C>T (p.Pro1461=)SNV Conflicting interpretations of pathogenicity 226537 rs148262058 6:33134299-33134299 6:33166522-33166522
36 COL11A2 NM_080680.3(COL11A2):c.4751-9A>GSNV Conflicting interpretations of pathogenicity 227272 rs555680585 6:33132750-33132750 6:33164973-33164973
37 COL11A2 NM_080680.3(COL11A2):c.1819-10G>ASNV Conflicting interpretations of pathogenicity 226532 rs3129202 6:33145972-33145972 6:33178195-33178195
38 COL11A2 NM_080680.3(COL11A2):c.1612-10G>CSNV Conflicting interpretations of pathogenicity 227260 rs182657680 6:33146760-33146760 6:33178983-33178983
39 COL11A2 NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu)SNV Conflicting interpretations of pathogenicity 228526 rs201399429 6:33154450-33154450 6:33186673-33186673
40 COL11A2 NM_080680.3(COL11A2):c.5071-7C>GSNV Conflicting interpretations of pathogenicity 262312 rs200548977 6:33131602-33131602 6:33163825-33163825
41 COL11A2 NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp)SNV Conflicting interpretations of pathogenicity 356383 rs141254777 6:33133425-33133425 6:33165648-33165648
42 COL11A2 NM_080680.3(COL11A2):c.4586C>T (p.Pro1529Leu)SNV Conflicting interpretations of pathogenicity 356384 rs201315111 6:33133490-33133490 6:33165713-33165713
43 COL11A2 NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=)SNV Conflicting interpretations of pathogenicity 356390 rs146962984 6:33137644-33137644 6:33169867-33169867
44 COL11A2 NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu)SNV Conflicting interpretations of pathogenicity 356407 rs201179101 6:33148754-33148754 6:33180977-33180977
45 COL11A2 NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu)SNV Conflicting interpretations of pathogenicity 356395 rs528009333 6:33139548-33139548 6:33171771-33171771
46 COL11A2 NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe)SNV Conflicting interpretations of pathogenicity 356402 rs188490457 6:33144068-33144068 6:33176291-33176291
47 COL11A2 NM_080680.3(COL11A2):c.*706G>TSNV Conflicting interpretations of pathogenicity 356374 rs548143581 6:33130749-33130749 6:33162972-33162972
48 COL11A2 NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu)SNV Conflicting interpretations of pathogenicity 356389 rs534570825 6:33137233-33137233 6:33169456-33169456
49 COL11A2 NM_080680.3(COL11A2):c.1818+15G>ASNV Conflicting interpretations of pathogenicity 356405 rs549588854 6:33146070-33146070 6:33178293-33178293
50 COL11A2 NM_080680.3(COL11A2):c.*822C>GSNV Conflicting interpretations of pathogenicity 356373 rs536130072 6:33130633-33130633 6:33162856-33162856

UniProtKB/Swiss-Prot genetic disease variations for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:

73
# Symbol AA change Variation ID SNP ID
1 COL11A2 p.Gly661Arg VAR_001907 rs121912945

Expression for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Search GEO for disease gene expression data for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive.

Pathways for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Pathways related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 COL9A3 COL9A2 COL9A1 COL5A2 COL2A1 COL11A2
2
Show member pathways
13.22 COL9A3 COL9A2 COL9A1 COL5A2 COL2A1 COL11A2
3
Show member pathways
12.87 COL9A3 COL9A2 COL9A1 COL5A2 COL2A1 COL11A2
4
Show member pathways
12.81 CREB3L3 CREB3L1 COMP COL9A3 COL9A2 COL9A1
5
Show member pathways
12.69 COMP COL9A3 COL9A2 COL9A1 COL5A2 COL2A1
6
Show member pathways
12.48 COL9A3 COL9A2 COL9A1 COL5A2 COL2A1 COL11A2
7
Show member pathways
12 COMP COL9A3 COL9A2 COL9A1 COL2A1
8
Show member pathways
11.98 FMOD COMP COL9A3 COL9A2 COL9A1 COL5A2
9 11.24 COL9A3 COL9A2 COL9A1
10 11.19 FMOD COMP COL2A1
11 11.11 FMOD COMP COL9A3 COL9A2 COL9A1
12 10.76 COL9A3 COL9A2 COL9A1 COL5A2 COL2A1 COL11A2

GO Terms for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.18 UCMA TECTB TECTA FMOD COMP COL9A3
2 extracellular space GO:0005615 10.07 UCMA TECTB INA FMOD COMP COL9A3
3 endoplasmic reticulum lumen GO:0005788 9.92 COL9A3 COL9A2 COL9A1 COL5A2 COL2A1 COL11A2
4 collagen trimer GO:0005581 9.76 COL9A3 COL9A2 COL9A1 COL5A2 COL2A1 COL11A2
5 collagen-containing extracellular matrix GO:0062023 9.7 TECTA FMOD COMP COL9A3 COL9A2 COL9A1
6 collagen type IX trimer GO:0005594 9.58 COL9A3 COL9A2 COL9A1
7 extracellular matrix GO:0031012 9.44 UCMA TECTB TECTA FMOD COMP COL9A3
8 collagen type XI trimer GO:0005592 9.43 COL11A2 COL11A1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.67 COMP COL5A2 COL2A1 COL11A1
2 response to unfolded protein GO:0006986 9.65 CREB3L3 CREB3L1 COMP
3 sensory perception of sound GO:0007605 9.65 TECTA STRC COL2A1 COL11A2 COL11A1
4 skeletal system development GO:0001501 9.63 COMP COL9A2 COL5A2 COL2A1 COL11A2 COL10A1
5 cartilage development GO:0051216 9.62 COMP COL2A1 COL11A2 COL11A1
6 skeletal system morphogenesis GO:0048705 9.61 COL2A1 COL11A2 COL11A1
7 tissue homeostasis GO:0001894 9.55 COL2A1 COL11A2
8 cartilage condensation GO:0001502 9.54 COL2A1 COL11A1
9 chondrocyte development GO:0002063 9.52 COMP COL11A1
10 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.51 STRC COL11A1
11 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 9.49 CREB3L3 CREB3L1
12 proteoglycan metabolic process GO:0006029 9.46 COL2A1 COL11A1
13 collagen fibril organization GO:0030199 9.43 FMOD COMP COL5A2 COL2A1 COL11A2 COL11A1
14 tendon development GO:0035989 9.4 COMP COL11A1
15 extracellular matrix organization GO:0030198 9.28 COMP COL9A3 COL9A2 COL9A1 COL5A2 COL2A1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.56 COL9A3 COL9A2 COL9A1 COL5A2 COL2A1 COL11A2
2 extracellular matrix structural constituent GO:0005201 9.36 TECTB TECTA COMP COL9A3 COL9A2 COL9A1
3 proteoglycan binding GO:0043394 9.32 COMP COL2A1
4 cAMP response element binding GO:0035497 9.26 CREB3L3 CREB3L1
5 BMP binding GO:0036122 9.16 UCMA COMP

Sources for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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