OSMEDB
MCID: OTS013
MIFTS: 56

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 57 12 72 29 6 15
Osmed 57 20 43 58 72 54
Chondrodystrophy with Sensorineural Deafness 57 12 20 43 72
Otospondylomegaepiphyseal Dysplasia 20 43 58 29 13
Nance-Insley Syndrome 57 12 20 43 72
Nance-Sweeney Chondrodysplasia 57 12 43 72
Insley-Astley Syndrome 20 43 72
Osmedb 57 12 72
Oto-Spondylo-Megaepiphyseal Dysplasia 43 36
Osmed Syndrome 73 20
Weissenbacher-Zweymuller Syndrome, Formerly; Wzs, Formerly 57
Weissenbacher-Zweymuller Syndrome, Formerly 57
Oto-Spondylo-Mega-Epiphyseal Dysplasia 20
Dysplasia, Otospondylomegaepiphyseal 39
Nance Sweeney Chondrodysplasia 20
Mega-Epiphyseal Dwarfism 43
Megaepiphyseal Dwarfism 70
Wzs, Formerly 57

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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

GARD : 20 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.

MalaCards based summary : Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive, also known as osmed, is related to otospondylomegaepiphyseal dysplasia, autosomal dominant and stickler syndrome, type i, 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 drugs Anesthetics and Calamus have 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.

MedlinePlus Genetics : 43 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.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® : 57 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) (Updated 05-Apr-2021)

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 : 72 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 : 73 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 66)
# Related Disease Score Top Affiliating Genes
1 otospondylomegaepiphyseal dysplasia, autosomal dominant 31.3 COL9A1 COL2A1 COL11A2 COL11A1
2 stickler syndrome, type i 30.0 COL9A2 COL2A1 COL11A1
3 osteoarthritis 29.4 COL9A1 COL2A1 COL11A2
4 sensorineural hearing loss 29.3 COL9A2 COL2A1 COL11A2 COL11A1
5 stickler syndrome 28.8 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
6 marshall syndrome 28.6 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
7 kniest dysplasia 28.3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
8 cleft palate, isolated 28.3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
9 myopia 28.3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
10 megaepiphyseal dwarfism 10.9
11 branchiootic syndrome 1 10.2
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
13 heart disease 10.0
14 congestive heart failure 10.0
15 metatropic dysplasia 10.0 COL2A1 COL11A2
16 cleft soft palate 10.0 COL11A2 COL11A1
17 schneckenbecken dysplasia 10.0 COL11A2 COL11A1
18 skeletal dysplasias 10.0 COL2A1 COL11A2
19 bone deterioration disease 9.9 COL9A2 COL2A1
20 hypertelorism 9.9
21 deafness, autosomal dominant 13 9.9
22 autosomal recessive disease 9.9
23 dwarfism 9.9
24 intervertebral disc disease 9.9 COL9A2 COL11A1
25 bone structure disease 9.8 COL9A2 COL2A1
26 multiple epiphyseal dysplasia, autosomal dominant 9.8 COL9A2 COL9A1
27 kohler's disease 9.8 COL2A1 COL11A2 COL11A1
28 epiphyseal dysplasia, multiple, 6 9.8 COL9A2 COL9A1
29 epiphyseal dysplasia, multiple, 5 9.8 COL9A2 COL9A1
30 epiphyseal dysplasia, multiple, 3 9.8 COL9A2 COL9A1
31 epiphyseal dysplasia, multiple, 2 9.8 COL9A2 COL9A1
32 retinal perforation 9.8 COL2A1 COL11A2 COL11A1
33 achondrogenesis, type ib 9.8 COL9A2 COL9A1
34 epiphyseal dysplasia, multiple, 1 9.8 COL9A2 COL9A1
35 atelosteogenesis 9.8 COL9A2 COL9A1
36 epiphyseal dysplasia, multiple, 4 9.7 COL9A2 COL9A1
37 multiple epiphyseal dysplasia due to collagen 9 anomaly 9.7 COL9A2 COL9A1
38 osteochondritis dissecans 9.7 COL9A2 COL9A1
39 vitreoretinal degeneration 9.7 COL9A2 COL2A1 COL11A1
40 marfan syndrome 9.7 COL9A1 COL2A1
41 clubfoot 9.6 COL9A1 COL2A1
42 brittle bone disorder 9.6 COL2A1 COL11A1
43 connective tissue disease 9.6 COL2A1 COL11A2 COL11A1
44 macroglossia 9.6 COL9A1 COL2A1 COL11A1
45 hypochondrogenesis 9.5 COL9A2 COL9A1 COL2A1
46 strabismus 9.5 COL9A1 COL2A1 COL11A1
47 osteochondrosis 9.5 COL9A2 COL9A1 COL2A1
48 diastrophic dysplasia 9.5 COL9A2 COL9A1 COL2A1
49 pseudoachondroplasia 9.5 COL9A2 COL9A1 COL2A1
50 fundus dystrophy 9.5 COL2A1 COL11A2 COL11A1

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 41)
# 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 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
12 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
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 58 31 occasional (7.5%) Occasional (29-5%) 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 abnormal form of the vertebral bodies 58 Very frequent (99-80%)
24 micrognathia 31 HP:0000347
25 arthralgia 31 HP:0002829
26 bulbous nose 31 HP:0000414
27 midface retrusion 31 HP:0011800
28 short metacarpal 31 HP:0010049
29 short palm 31 HP:0004279
30 mixed hearing impairment 31 HP:0000410
31 short phalanx of finger 31 HP:0009803
32 short long bone 31 HP:0003026
33 pierre-robin sequence 31 HP:0000201
34 coronal cleft vertebrae 31 HP:0003417
35 enlarged joints 31 HP:0003037
36 flared metaphysis 31 HP:0003015
37 lumbar hyperlordosis 31 HP:0002938
38 large tarsal bones 31 HP:0004679
39 premature osteoarthritis 31 HP:0003088
40 prominent interphalangeal joints 31 HP:0006237
41 aplasia/hypoplasia of the capital femoral epiphysis 31 HP:0005003

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:


arthralgia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 8.92 COL11A1 COL11A2 COL9A1 COL9A2

MGI Mouse Phenotypes related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.55 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2
2 limbs/digits/tail MP:0005371 9.26 COL11A1 COL2A1 COL9A1 COL9A2
3 skeleton MP:0005390 9.02 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2

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
2 Calamus

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
3 Prizma Pulse Oximeter Evaluation Completed NCT03080688
4 Accuracy of Oximeters With Hypoxia and Methemoglobin or Carboxyhemoglobin Completed NCT01583634
5 The Effects of Direct Swallowing Training and Oral Sensorimotor Stimulation in Preterm Infants Active, not recruiting NCT02508571
6 Comparative Evaluation of Two Different Radiosurgery Modalities in Brain Metastatic Patients From Several Solid Tumors Active, not recruiting NCT02355613

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, Heart

Publications for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Articles related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:

(show all 46)
# Title Authors PMID Year
1
Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene. 61 54 6 57
16637051 2006
2
COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED). 6 61 57 54
15558753 2005
3
Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene. 61 54 57 6
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 61 57
9805126 1998
6
Nance-Sweeney chondrodysplasia--a further case? 57
8818448 1996
7
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. 57
7859284 1995
8
Identical twins with Weissenbacher-Zweymüller syndrome and neural tube defect. 57
8456835 1993
9
Weissenbacher-Zweymüller syndrome: a distinct autosomal recessive skeletal dysplasia. 57
1415350 1992
10
Weissenbacher-Zweymuller syndrome: long-term follow-up of growth and psychomotor development. 57
1723388 1991
11
Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome. 57
4014313 1985
12
A bone dysplasia with deafness. 57
4830146 1974
13
A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia. 54 61
16189708 2005
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
[The use of antibiotics in Italy. The national OsMed report 2019.] 61
33687356 2021
16
Economic Impact of Schizophrenia from a Hospital and Social Security System Perspective in Italy. 61
33559103 2021
17
Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia. 61
33348901 2020
18
Otospondylomegaepiphyseal Dysplasia: A Case Report of Clinical and Radiographic Findings. 61
33512935 2020
19
Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature. 61
32341816 2020
20
[Prescribing appropriateness, use and consumption of antibiotics in Italy. An extract from the National Report 2018.] 61
31992901 2020
21
Intraclass differences in the risk of hospitalization for heart failure among patients with type 2 diabetes initiating a dipeptidyl peptidase-4 inhibitor or a sulphonylurea: Results from the OsMed Health-DB registry. 61
28432754 2017
22
Adherence to Selective Serotonin and Serotonin-Norepinephrine Reuptake Inhibitor Prescriptions Affects Overall Medication Adherence in Older Persons: Evidence From the Italian Nationwide OsMed Health-DB Database. 61
28086009 2016
23
Role of the Pharmacoeconomic Aspects in the Clinical Management of Hypertension. 61
27160719 2016
24
Advanced Age and Medication Prescription: More Years, Less Medications? A Nationwide Report From the Italian Medicines Agency. 61
26441359 2016
25
Risk of hospitalization for heart failure in patients with type 2 diabetes newly treated with DPP-4 inhibitors or other oral glucose-lowering medications: a retrospective registry study on 127,555 patients from the Nationwide OsMed Health-DB Database. 61
26112890 2015
26
Novel use of an osmotic self-inflating tissue expander for hypospadias revision surgery. 61
25817117 2015
27
Difficult Airway Management in Osmed Syndrome. 61
27366455 2014
28
Prescription drug use among older adults in Italy: a country-wide perspective. 61
24878216 2014
29
High prevalence of poor quality drug prescribing in older individuals: a nationwide report from the Italian Medicines Agency (AIFA). 61
23913935 2014
30
The use of Osmed(TM) tissue expanders in paediatric burns reconstruction. 61
23012614 2012
31
A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis. 61
21980822 2011
32
Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2. 61
21208667 2011
33
A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient. 61
21204229 2011
34
Expanding soft tissue with Osmed tissue expanders in the goat maxilla. 61
20678133 2011
35
The osmotic tissue expander: a 5-year experience. 61
20163998 2010
36
Inferolateral migration of hydrogel orbital implants in microphthalmia. 61
20090477 2010
37
The osmotic tissue expander: a three-year clinical experience. 61
18755643 2009
38
Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene. 54
18381781 2008
39
[Genetic characteristics of hearing disorders in changes in genes responsible for collagen synthesis]. 61
17690651 2007
40
Cleft palate repair with the use of osmotic expanders: a preliminary report. 61
17349598 2007
41
[2 cases of oto-spondylo-megaephyseal dysplasia]. 61
11677845 2001
42
The type XI collagenopathies. 61
9799295 1998
43
Hearing loss in oto-spondylo-megaepiphyseal dysplasia (OSMED): case studies. 61
8898273 1996
44
Otospondylomegaepiphyseal dysplasia: report of three sibs and review of the literature. 61
8205326 1994
45
Bone dysplasia, midface hypoplasia, and deafness: three new patients and review of the literature. 61
8484414 1993
46
Oto-spondylo-megaepiphyseal dysplasia (OSMED). 61
7153059 1982

Variations for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

ClinVar genetic disease variations for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:

6 (show top 50) (show all 163)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL11A2 NM_080680.3(COL11A2):c.1981G>A (p.Gly661Arg) SNV Pathogenic 17121 rs121912945 GRCh37: 6:33144993-33144993
GRCh38: 6:33177216-33177216
2 COL11A2 NM_080680.3(COL11A2):c.2492C>A (p.Ser831Ter) SNV Pathogenic 17126 rs121912949 GRCh37: 6:33141825-33141825
GRCh38: 6:33174048-33174048
3 COL11A2 NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter) SNV Pathogenic 17128 rs121912951 GRCh37: 6:33135599-33135599
GRCh38: 6:33167822-33167822
4 COL11A2 NM_080680.2(COL11A2):c.3962delG (p.Gly1321Valfs) Deletion Pathogenic 17130 rs1562315748 GRCh37: 6:33135628-33135628
GRCh38: 6:33167851-33167851
5 COL11A2 NM_080680.3(COL11A2):c.1292del (p.Pro431fs) Deletion Pathogenic 802199 rs1583351636 GRCh37: 6:33148102-33148102
GRCh38: 6:33180325-33180325
6 COL11A2 NM_080680.3(COL11A2):c.67dup (p.Ala23fs) Duplication Pathogenic 802200 rs1583394539 GRCh37: 6:33159950-33159951
GRCh38: 6:33192173-33192174
7 COL2A1 NM_001844.5(COL2A1):c.1420-7_1430del Deletion Pathogenic 560983 rs1565683138 GRCh37: 12:48380216-48380233
GRCh38: 12:47986433-47986450
8 COL11A2 NM_080680.3(COL11A2):c.2083_2086AAGG[1] (p.Glu696fs) Microsatellite Pathogenic 807387 rs1583335192 GRCh37: 6:33144523-33144526
GRCh38: 6:33176746-33176749
9 COL11A2 NM_080680.3(COL11A2):c.3150+7G>T SNV Uncertain significance 904728 GRCh37: 6:33139483-33139483
GRCh38: 6:33171706-33171706
10 COL11A2 NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) SNV Uncertain significance 194797 rs199866657 GRCh37: 6:33146725-33146725
GRCh38: 6:33178948-33178948
11 COL11A2 NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=) SNV Uncertain significance 178326 rs138380958 GRCh37: 6:33138109-33138109
GRCh38: 6:33170332-33170332
12 COL11A2 NM_080680.3(COL11A2):c.4751-9A>G SNV Uncertain significance 227272 rs555680585 GRCh37: 6:33132750-33132750
GRCh38: 6:33164973-33164973
13 COL11A2 NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=) SNV Uncertain significance 162976 rs34055850 GRCh37: 6:33133393-33133393
GRCh38: 6:33165616-33165616
14 COL11A2 NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=) SNV Uncertain significance 356390 rs146962984 GRCh37: 6:33137644-33137644
GRCh38: 6:33169867-33169867
15 COL11A2 NM_080680.3(COL11A2):c.4383C>T (p.Pro1461=) SNV Uncertain significance 226537 rs148262058 GRCh37: 6:33134299-33134299
GRCh38: 6:33166522-33166522
16 COL11A2 NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp) SNV Uncertain significance 286504 rs370966667 GRCh37: 6:33133401-33133401
GRCh38: 6:33165624-33165624
17 COL11A2 NM_080680.3(COL11A2):c.1612-10G>C SNV Uncertain significance 227260 rs182657680 GRCh37: 6:33146760-33146760
GRCh38: 6:33178983-33178983
18 COL11A2 NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp) SNV Uncertain significance 356383 rs141254777 GRCh37: 6:33133425-33133425
GRCh38: 6:33165648-33165648
19 COL11A2 NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu) SNV Uncertain significance 356389 rs534570825 GRCh37: 6:33137233-33137233
GRCh38: 6:33169456-33169456
20 COL11A2 NM_080680.3(COL11A2):c.3289A>C (p.Thr1097Pro) SNV Uncertain significance 391897 rs138045609 GRCh37: 6:33139071-33139071
GRCh38: 6:33171294-33171294
21 COL11A2 NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) SNV Uncertain significance 198609 rs139116571 GRCh37: 6:33152819-33152819
GRCh38: 6:33185042-33185042
22 COL11A2 NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val) SNV Uncertain significance 178927 rs376797260 GRCh37: 6:33140133-33140133
GRCh38: 6:33172356-33172356
23 COL11A2 NM_080680.3(COL11A2):c.2682G>A (p.Pro894=) SNV Uncertain significance 178327 rs113067047 GRCh37: 6:33141279-33141279
GRCh38: 6:33173502-33173502
24 COL11A2 NM_080680.3(COL11A2):c.1819-10G>A SNV Uncertain significance 226532 rs3129202 GRCh37: 6:33145972-33145972
GRCh38: 6:33178195-33178195
25 COL11A2 NM_080680.3(COL11A2):c.579C>T (p.Ala193=) SNV Uncertain significance 681633 rs201054429 GRCh37: 6:33156166-33156166
GRCh38: 6:33188389-33188389
26 COL11A2 NM_080680.3(COL11A2):c.-21C>G SNV Uncertain significance 515825 rs767695417 GRCh37: 6:33160038-33160038
GRCh38: 6:33192261-33192261
27 COL11A2 NM_080680.3(COL11A2):c.2709G>A (p.Pro903=) SNV Uncertain significance 513695 rs779878105 GRCh37: 6:33141152-33141152
GRCh38: 6:33173375-33173375
28 COL11A2 NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) SNV Uncertain significance 178325 rs147576338 GRCh37: 6:33137844-33137844
GRCh38: 6:33170067-33170067
29 COL11A2 NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) SNV Uncertain significance 282710 rs151319255 GRCh37: 6:33132638-33132638
GRCh38: 6:33164861-33164861
30 COL11A2 NM_080680.3(COL11A2):c.1178C>T (p.Pro393Leu) SNV Uncertain significance 356408 rs140266192 GRCh37: 6:33148889-33148889
GRCh38: 6:33181112-33181112
31 COL11A2 NM_080680.3(COL11A2):c.2271C>T (p.Gly757=) SNV Uncertain significance 356400 rs745568808 GRCh37: 6:33143456-33143456
GRCh38: 6:33175679-33175679
32 COL11A2 NM_080680.3(COL11A2):c.2682+5G>A SNV Uncertain significance 1031065 GRCh37: 6:33141274-33141274
GRCh38: 6:33173497-33173497
33 COL11A2 NM_080680.3(COL11A2):c.3697C>T (p.Arg1233Cys) SNV Uncertain significance 1031066 GRCh37: 6:33137261-33137261
GRCh38: 6:33169484-33169484
34 COL11A2 NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) SNV Uncertain significance 162981 rs142890313 GRCh37: 6:33135285-33135285
GRCh38: 6:33167508-33167508
35 COL11A2 NM_080680.3(COL11A2):c.-79T>C SNV Uncertain significance 906520 GRCh37: 6:33160096-33160096
GRCh38: 6:33192319-33192319
36 COL11A2 NM_080680.3(COL11A2):c.4751-12C>G SNV Uncertain significance 906713 GRCh37: 6:33132753-33132753
GRCh38: 6:33164976-33164976
37 COL11A2 NM_080680.3(COL11A2):c.4706G>A (p.Arg1569His) SNV Uncertain significance 906714 GRCh37: 6:33133370-33133370
GRCh38: 6:33165593-33165593
38 COL11A2 NM_080680.3(COL11A2):c.3959G>T (p.Arg1320Leu) SNV Uncertain significance 906835 GRCh37: 6:33136297-33136297
GRCh38: 6:33168520-33168520
39 COL11A2 NM_080680.3(COL11A2):c.3778G>C (p.Asp1260His) SNV Uncertain significance 906906 GRCh37: 6:33137180-33137180
GRCh38: 6:33169403-33169403
40 COL11A2 NM_080680.3(COL11A2):c.2300A>G (p.Glu767Gly) SNV Uncertain significance 286092 rs775641112 GRCh37: 6:33143427-33143427
GRCh38: 6:33175650-33175650
41 COL11A2 NM_080680.3(COL11A2):c.1714C>A (p.His572Asn) SNV Uncertain significance 907291 GRCh37: 6:33146461-33146461
GRCh38: 6:33178684-33178684
42 COL11A2 NM_080680.3(COL11A2):c.*393A>G SNV Uncertain significance 904983 GRCh37: 6:33131062-33131062
GRCh38: 6:33163285-33163285
43 COL11A2 NM_080680.3(COL11A2):c.5071-7C>G SNV Uncertain significance 262312 rs200548977 GRCh37: 6:33131602-33131602
GRCh38: 6:33163825-33163825
44 COL11A2 NM_080680.3(COL11A2):c.4777G>A (p.Gly1593Ser) SNV Uncertain significance 905130 GRCh37: 6:33132715-33132715
GRCh38: 6:33164938-33164938
45 COL11A2 NM_080680.3(COL11A2):c.3794A>G (p.Asn1265Ser) SNV Uncertain significance 905304 GRCh37: 6:33137164-33137164
GRCh38: 6:33169387-33169387
46 COL11A2 NM_080680.3(COL11A2):c.2477G>C (p.Gly826Ala) SNV Uncertain significance 905654 GRCh37: 6:33141949-33141949
GRCh38: 6:33174172-33174172
47 COL11A2 NM_080680.3(COL11A2):c.2431-4C>T SNV Uncertain significance 905655 GRCh37: 6:33141999-33141999
GRCh38: 6:33174222-33174222
48 COL11A2 NM_080680.3(COL11A2):c.2676A>T (p.Gly892=) SNV Uncertain significance 906098 GRCh37: 6:33141285-33141285
GRCh38: 6:33173508-33173508
49 COL11A2 NM_080680.3(COL11A2):c.2666G>A (p.Gly889Glu) SNV Uncertain significance 906099 GRCh37: 6:33141295-33141295
GRCh38: 6:33173518-33173518
50 COL11A2 NM_080680.3(COL11A2):c.920T>A (p.Leu307His) SNV Uncertain significance 906412 GRCh37: 6:33152788-33152788
GRCh38: 6:33185011-33185011

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

72
# 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
13.3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
2
Show member pathways
12.91 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
3
Show member pathways
12.61 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
4
Show member pathways
12.52 COL9A2 COL9A1 COL2A1
5
Show member pathways
12.42 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
6
Show member pathways
12.09 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
7
Show member pathways
11.77 COL9A2 COL9A1 COL2A1
8
Show member pathways
11.67 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
9 11.5 COL2A1 COL11A2
10 11.23 COL9A2 COL9A1
11 11.02 COL9A2 COL9A1
12 10.46 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1

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 9.83 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
2 extracellular space GO:0005615 9.8 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
3 collagen-containing extracellular matrix GO:0062023 9.65 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
4 endoplasmic reticulum lumen GO:0005788 9.55 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
5 basement membrane GO:0005604 9.46 COL9A1 COL2A1
6 collagen type IX trimer GO:0005594 9.37 COL9A2 COL9A1
7 extracellular matrix GO:0031012 9.35 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
8 collagen type XI trimer GO:0005592 9.32 COL11A2 COL11A1
9 collagen trimer GO:0005581 9.02 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.58 COL2A1 COL11A2 COL11A1
2 ossification GO:0001503 9.54 COL2A1 COL11A1
3 skeletal system development GO:0001501 9.54 COL9A2 COL2A1 COL11A2
4 roof of mouth development GO:0060021 9.52 COL2A1 COL11A2
5 inner ear morphogenesis GO:0042472 9.51 COL2A1 COL11A1
6 heart morphogenesis GO:0003007 9.49 COL2A1 COL11A1
7 chondrocyte differentiation GO:0002062 9.48 COL2A1 COL11A2
8 tissue homeostasis GO:0001894 9.46 COL2A1 COL11A2
9 cartilage condensation GO:0001502 9.43 COL2A1 COL11A1
10 cartilage development GO:0051216 9.43 COL2A1 COL11A2 COL11A1
11 collagen fibril organization GO:0030199 9.33 COL2A1 COL11A2 COL11A1
12 proteoglycan metabolic process GO:0006029 9.32 COL2A1 COL11A1
13 skeletal system morphogenesis GO:0048705 9.13 COL2A1 COL11A2 COL11A1
14 extracellular matrix organization GO:0030198 9.02 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1

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 GO:0005201 9.35 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
2 protein binding, bridging GO:0030674 9.16 COL11A2 COL11A1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.02 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1

Sources for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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