OSMEDB
MCID: OTS013
MIFTS: 43

Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive (OSMEDB)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

MalaCards integrated aliases for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:

Name: Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 58 76
Osmed 58 54 60 76 56
Chondrodystrophy with Sensorineural Deafness 58 54 76
Nance-Insley Syndrome 58 54 76
Otospondylomegaepiphyseal Dysplasia 54 60
Nance-Sweeney Chondrodysplasia 58 76
Insley-Astley Syndrome 54 76
Osmed Syndrome 77 54
Osmedb 58 76
Weissenbacher-Zweymuller Syndrome, Formerly; Wzs, Formerly 58
Weissenbacher-Zweymuller Syndrome, Formerly 58
Oto-Spondylo-Mega-Epiphyseal Dysplasia 54
Nance Sweeney Chondrodysplasia 54
Megaepiphyseal Dwarfism 74
Wzs, Formerly 58

Characteristics:

Orphanet epidemiological data:

60
otospondylomegaepiphyseal dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
otospondylomegaepiphyseal dysplasia, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1427Disease definitionOtospondylomegaepiphyseal 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.EpidemiologyThe prevalence is unknown but less than 30 cases have been described in the literature so far.Clinical descriptionTypical 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.EtiologyOSMED is classed among the type XI collagenopathies as the majority of reported cases have been associated with homozygousmutations in the COL11A2 gene (6p21.3), encoding the alpha2 chain of type XI collagen.Diagnostic methodsDiagnosis 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 diagnosisOSMED 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 counselingOSMED is inherited as an autosomal recessivetrait.Management and treatmentTreatment is symptomatic only, involving closure of the cleft palate, audiometry and adapted management of the hearing loss, and treatment of the joint pain.PrognosisThe 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 osmed, is related to otospondylomegaepiphyseal dysplasia, autosomal dominant and otospondylomegaepiphyseal dysplasia, 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 Phospholipase-C Pathway and Focal Adhesion. Affiliated tissues include bone, skin and heart, and related phenotypes are malar flattening and sensorineural hearing impairment

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 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 family:

Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

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

(show all 32)
# Related Disease Score Top Affiliating Genes
1 otospondylomegaepiphyseal dysplasia, autosomal dominant 32.9 COL11A2 COL2A1
2 otospondylomegaepiphyseal dysplasia 32.7 COL11A2 COL2A1
3 osteoarthritis 29.6 COL11A2 COL2A1
4 stickler syndrome 29.6 COL11A2 COL2A1
5 megaepiphyseal dwarfism 11.1
6 melanoma 10.3
7 breast cancer 10.2
8 leukemia 10.2
9 autosomal recessive disease 10.1
10 helix syndrome 10.1
11 rere-related disorders 10.1
12 systemic lupus erythematosus 9.9
13 myeloma, multiple 9.9
14 asthma 9.9
15 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
16 burns 9.9
17 sarcoma 9.9
18 vogt-koyanagi-harada disease 9.9
19 in situ carcinoma 9.9
20 breast carcinoma in situ 9.9
21 skin melanoma 9.9
22 irritable bowel syndrome 9.9
23 glioma 9.9
24 mediastinal endodermal sinus tumors 9.9
25 stickler syndrome, type 3 9.9
26 streptococcal group a invasive disease 9.9
27 retinal perforation 9.8 COL11A2 COL2A1
28 spinal stenosis 9.8 COL11A2 COL2A1
29 campomelic dysplasia 9.7 COL11A2 COL2A1
30 multiple epiphyseal dysplasia 9.7 COL11A2 COL2A1
31 cleft palate, isolated 9.6 COL11A2 COL2A1
32 sensorineural hearing loss 9.5 COL11A2 COL2A1

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:

60 33 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 Very frequent (99-80%) HP:0000272
2 sensorineural hearing impairment 60 33 Very frequent (99-80%) HP:0000407
3 anteverted nares 60 33 Very frequent (99-80%) HP:0000463
4 cleft palate 60 33 Very frequent (99-80%) HP:0000175
5 platyspondyly 60 33 Very frequent (99-80%) HP:0000926
6 recurrent pneumonia 60 33 Frequent (79-30%) HP:0006532
7 kyphosis 60 Frequent (79-30%)
8 hyperlordosis 60 Frequent (79-30%)
9 joint stiffness 60 Very frequent (99-80%)
10 beaking of vertebral bodies 33 HP:0004568
11 short stature 33 HP:0004322
12 flexion contracture 33 HP:0001371
13 feeding difficulties in infancy 60 Frequent (79-30%)
14 arthralgia 33 HP:0002829
15 micrognathia 33 HP:0000347
16 abnormality of the metaphysis 60 Very frequent (99-80%)
17 epiphyseal dysplasia 33 HP:0002656
18 strabismus 60 Occasional (29-5%)
19 micromelia 60 Very frequent (99-80%)
20 short palm 33 HP:0004279
21 short long bone 33 HP:0003026
22 abnormal form of the vertebral bodies 60 Very frequent (99-80%)
23 depressed nasal ridge 60 Very frequent (99-80%)
24 bulbous nose 33 HP:0000414
25 ventricular septal defect 60 Occasional (29-5%)
26 midface retrusion 33 HP:0011800
27 synostosis of carpal bones 60 Occasional (29-5%)
28 abnormality of the lacrimal duct 60 Occasional (29-5%)
29 short metacarpal 33 HP:0010049
30 abnormality of the skin 60 Frequent (79-30%)
31 short phalanx of finger 33 HP:0009803
32 lumbar hyperlordosis 33 HP:0002938
33 pierre-robin sequence 33 HP:0000201
34 coronal cleft vertebrae 33 HP:0003417
35 enlarged joints 33 HP:0003037
36 flared metaphysis 33 HP:0003015
37 large tarsal bones 33 HP:0004679
38 mixed hearing impairment 33 HP:0000410
39 premature osteoarthritis 33 HP:0003088
40 prominent interphalangeal joints 33 HP:0006237
41 aplasia/hypoplasia of the capital femoral epiphysis 33 HP:0005003

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Nose:
anteverted nares
bulbous nasal tip

Head And Neck Mouth:
cleft palate
pierre-robin sequence

Skeletal Limbs:
enlarged joints
metaphyseal flaring
joint contractures
premature osteoarthritis
short long bones
more
Head And Neck Face:
midface hypoplasia
small jaw

Head And Neck Ears:
sensorineural hearing loss
mixed hearing loss

Skeletal Pelvis:
square iliac wings

Respiratory Lung:
recurrent pulmonary infections

Growth Height:
short stature

Skeletal:
epiphyseal dysplasia

Skeletal Feet:
large tarsal bones

Skeletal Hands:
short metacarpals
short hands
short fingers
prominent interphalangeal joints

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 COL11A2 COL2A1

Drugs & Therapeutics for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Genetic Tests for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Anatomical Context for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

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

42
Bone, Skin, Heart

Publications for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Articles related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:

(show all 20)
# Title Authors Year
1
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. ( 28432754 )
2017
2
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. ( 28086009 )
2016
3
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. ( 26112890 )
2015
4
The Nationwide Osmed Health-Db Database. A Tool To Support Healthcare Decision-Making And Real-World Evidence Generation. ( 26533883 )
2015
5
Difficult Airway Management in Osmed Syndrome. ( 27366455 )
2014
6
The use of Osmed(TM) tissue expanders in paediatric burns reconstruction. ( 23012614 )
2012
7
Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2. ( 21208667 )
2011
8
Expanding soft tissue with Osmed tissue expanders in the goat maxilla. ( 20678133 )
2011
9
A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis. ( 21980822 )
2011
10
Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene. ( 18381781 )
2008
11
Gene symbol: COL11A2. Disease: Otospondylomegaepiphyseal dysplasia. ( 18846651 )
2008
12
Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene. ( 16637051 )
2006
13
COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED). ( 15558753 )
2005
14
Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED). ( 11668593 )
2001
15
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. ( 10677296 )
2000
16
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). ( 9805126 )
1998
17
Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene. ( 9188673 )
1997
18
Hearing loss in oto-spondylo-megaepiphyseal dysplasia (OSMED): case studies. ( 8898273 )
1996
19
Otospondylomegaepiphyseal dysplasia: report of three sibs and review of the literature. ( 8205326 )
1994
20
Oto-spondylo-megaepiphyseal dysplasia (OSMED). ( 7153059 )
1982

Variations for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

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

76
# Symbol AA change Variation ID SNP ID
1 COL11A2 p.Gly661Arg VAR_001907 rs121912945

ClinVar genetic disease variations for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:

6 (show top 50) (show all 214)
# 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.1981G> A (p.Gly661Arg) single nucleotide variant Pathogenic rs121912945 GRCh38 Chromosome 6, 33177216: 33177216
3 COL11A2 NM_080680.2(COL11A2): c.2492C> A (p.Ser831Ter) single nucleotide variant Pathogenic rs121912949 GRCh37 Chromosome 6, 33141825: 33141825
4 COL11A2 NM_080680.2(COL11A2): c.2492C> A (p.Ser831Ter) single nucleotide variant Pathogenic rs121912949 GRCh38 Chromosome 6, 33174048: 33174048
5 COL11A2 NM_080680.2(COL11A2): c.3991C> T (p.Arg1331Ter) single nucleotide variant Pathogenic rs121912951 GRCh37 Chromosome 6, 33135599: 33135599
6 COL11A2 NM_080680.2(COL11A2): c.3991C> T (p.Arg1331Ter) single nucleotide variant Pathogenic rs121912951 GRCh38 Chromosome 6, 33167822: 33167822
7 COL11A2 NM_080680.2(COL11A2): c.3962delG (p.Gly1321Valfs) deletion Pathogenic GRCh38 Chromosome 6, 33167851: 33167851
8 COL11A2 NM_080680.2(COL11A2): c.3962delG (p.Gly1321Valfs) deletion Pathogenic GRCh37 Chromosome 6, 33135628: 33135628
9 COL11A2 NM_080680.2(COL11A2): c.1179+10G> A single nucleotide variant Benign rs2744507 GRCh37 Chromosome 6, 33148878: 33148878
10 COL11A2 NM_080680.2(COL11A2): c.1179+10G> A single nucleotide variant Benign rs2744507 GRCh38 Chromosome 6, 33181101: 33181101
11 COL11A2 NM_080680.2(COL11A2): c.1360-7A> C single nucleotide variant Benign rs3129201 GRCh37 Chromosome 6, 33147589: 33147589
12 COL11A2 NM_080680.2(COL11A2): c.1360-7A> C single nucleotide variant Benign rs3129201 GRCh38 Chromosome 6, 33179812: 33179812
13 COL11A2 NM_080680.2(COL11A2): c.1615C> T (p.Arg539Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs145499142 GRCh37 Chromosome 6, 33146747: 33146747
14 COL11A2 NM_080680.2(COL11A2): c.1615C> T (p.Arg539Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs145499142 GRCh38 Chromosome 6, 33178970: 33178970
15 COL11A2 NM_080680.2(COL11A2): c.1782C> T (p.Asp594=) single nucleotide variant Benign/Likely benign rs41266697 GRCh37 Chromosome 6, 33146121: 33146121
16 COL11A2 NM_080680.2(COL11A2): c.1782C> T (p.Asp594=) single nucleotide variant Benign/Likely benign rs41266697 GRCh38 Chromosome 6, 33178344: 33178344
17 COL11A2 NM_080680.2(COL11A2): c.2136A> T (p.Gly712=) single nucleotide variant Benign rs1799908 GRCh37 Chromosome 6, 33144243: 33144243
18 COL11A2 NM_080680.2(COL11A2): c.2136A> T (p.Gly712=) single nucleotide variant Benign rs1799908 GRCh38 Chromosome 6, 33176466: 33176466
19 COL11A2 NM_080680.2(COL11A2): c.2520G> A (p.Arg840=) single nucleotide variant Benign/Likely benign rs117237998 GRCh37 Chromosome 6, 33141797: 33141797
20 COL11A2 NM_080680.2(COL11A2): c.2520G> A (p.Arg840=) single nucleotide variant Benign/Likely benign rs117237998 GRCh38 Chromosome 6, 33174020: 33174020
21 COL11A2 NM_080680.2(COL11A2): c.2628+3G> A single nucleotide variant Benign rs970901 GRCh37 Chromosome 6, 33141475: 33141475
22 COL11A2 NM_080680.2(COL11A2): c.2628+3G> A single nucleotide variant Benign rs970901 GRCh38 Chromosome 6, 33173698: 33173698
23 COL11A2 NM_080680.2(COL11A2): c.2681C> T (p.Pro894Leu) single nucleotide variant Benign rs2855430 GRCh37 Chromosome 6, 33141280: 33141280
24 COL11A2 NM_080680.2(COL11A2): c.2681C> T (p.Pro894Leu) single nucleotide variant Benign rs2855430 GRCh38 Chromosome 6, 33173503: 33173503
25 COL11A2 NM_080680.2(COL11A2): c.2700T> C (p.Asp900=) single nucleotide variant Benign rs2229785 GRCh37 Chromosome 6, 33141161: 33141161
26 COL11A2 NM_080680.2(COL11A2): c.2700T> C (p.Asp900=) single nucleotide variant Benign rs2229785 GRCh38 Chromosome 6, 33173384: 33173384
27 COL11A2 NM_080680.2(COL11A2): c.3150+15A> C single nucleotide variant Benign rs2855436 GRCh37 Chromosome 6, 33139475: 33139475
28 COL11A2 NM_080680.2(COL11A2): c.3150+15A> C single nucleotide variant Benign rs2855436 GRCh38 Chromosome 6, 33171698: 33171698
29 COL11A2 NM_080680.2(COL11A2): c.3174G> A (p.Pro1058=) single nucleotide variant Benign rs1799910 GRCh37 Chromosome 6, 33139328: 33139328
30 COL11A2 NM_080680.2(COL11A2): c.3174G> A (p.Pro1058=) single nucleotide variant Benign rs1799910 GRCh38 Chromosome 6, 33171551: 33171551
31 COL11A2 NM_080680.2(COL11A2): c.3313-11C> T single nucleotide variant Benign rs2855437 GRCh37 Chromosome 6, 33138955: 33138955
32 COL11A2 NM_080680.2(COL11A2): c.3313-11C> T single nucleotide variant Benign rs2855437 GRCh38 Chromosome 6, 33171178: 33171178
33 COL11A2 NM_080680.2(COL11A2): c.3946C> A (p.Pro1316Thr) single nucleotide variant Benign rs2229784 GRCh37 Chromosome 6, 33136310: 33136310
34 COL11A2 NM_080680.2(COL11A2): c.3946C> A (p.Pro1316Thr) single nucleotide variant Benign rs2229784 GRCh38 Chromosome 6, 33168533: 33168533
35 COL11A2 NM_080680.2(COL11A2): c.5165C> T (p.Pro1722Leu) single nucleotide variant Benign/Likely benign rs2229792 GRCh37 Chromosome 6, 33131501: 33131501
36 COL11A2 NM_080680.2(COL11A2): c.5165C> T (p.Pro1722Leu) single nucleotide variant Benign/Likely benign rs2229792 GRCh38 Chromosome 6, 33163724: 33163724
37 COL11A2 NM_080680.2(COL11A2): c.826G> A (p.Glu276Lys) single nucleotide variant Benign rs9277934 GRCh37 Chromosome 6, 33153528: 33153528
38 COL11A2 NM_080680.2(COL11A2): c.826G> A (p.Glu276Lys) single nucleotide variant Benign rs9277934 GRCh38 Chromosome 6, 33185751: 33185751
39 COL11A2 NM_080680.2(COL11A2): c.877-4T> A single nucleotide variant Benign rs1799907 GRCh37 Chromosome 6, 33152835: 33152835
40 COL11A2 NM_080680.2(COL11A2): c.877-4T> A single nucleotide variant Benign rs1799907 GRCh38 Chromosome 6, 33185058: 33185058
41 COL11A2 NM_080680.2(COL11A2): c.*4C> T single nucleotide variant Benign/Likely benign rs186720023 GRCh38 Chromosome 6, 33163674: 33163674
42 COL11A2 NM_080680.2(COL11A2): c.*4C> T single nucleotide variant Benign/Likely benign rs186720023 GRCh37 Chromosome 6, 33131451: 33131451
43 COL11A2 NM_080680.2(COL11A2): c.4884G> C (p.Glu1628Asp) single nucleotide variant Benign/Likely benign rs2229790 GRCh38 Chromosome 6, 33164453: 33164453
44 COL11A2 NM_080680.2(COL11A2): c.4884G> C (p.Glu1628Asp) single nucleotide variant Benign/Likely benign rs2229790 GRCh37 Chromosome 6, 33132230: 33132230
45 COL11A2 NM_080680.2(COL11A2): c.4799G> A (p.Arg1600Gln) single nucleotide variant Benign/Likely benign rs1799912 GRCh38 Chromosome 6, 33164916: 33164916
46 COL11A2 NM_080680.2(COL11A2): c.4799G> A (p.Arg1600Gln) single nucleotide variant Benign/Likely benign rs1799912 GRCh37 Chromosome 6, 33132693: 33132693
47 COL11A2 NM_080680.2(COL11A2): c.4683A> G (p.Thr1561=) single nucleotide variant Likely benign rs34055850 GRCh37 Chromosome 6, 33133393: 33133393
48 COL11A2 NM_080680.2(COL11A2): c.4683A> G (p.Thr1561=) single nucleotide variant Likely benign rs34055850 GRCh38 Chromosome 6, 33165616: 33165616
49 COL11A2 NM_080680.2(COL11A2): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs727504460 GRCh38 Chromosome 6, 33168547: 33168547
50 COL11A2 NM_080680.2(COL11A2): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs727504460 GRCh37 Chromosome 6, 33136324: 33136324

Expression for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

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

Pathways for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

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 matrix GO:0031012 9.26 COL11A2 COL2A1
2 endoplasmic reticulum lumen GO:0005788 9.16 COL11A2 COL2A1
3 collagen-containing extracellular matrix GO:0062023 8.96 COL11A2 COL2A1
4 collagen trimer GO:0005581 8.62 COL11A2 COL2A1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.46 COL11A2 COL2A1
2 skeletal system development GO:0001501 9.43 COL11A2 COL2A1
3 sensory perception of sound GO:0007605 9.4 COL11A2 COL2A1
4 cartilage development GO:0051216 9.37 COL11A2 COL2A1
5 roof of mouth development GO:0060021 9.32 COL11A2 COL2A1
6 collagen fibril organization GO:0030199 9.26 COL11A2 COL2A1
7 skeletal system morphogenesis GO:0048705 9.16 COL11A2 COL2A1
8 chondrocyte differentiation GO:0002062 8.96 COL11A2 COL2A1
9 tissue homeostasis GO:0001894 8.62 COL11A2 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 GO:0005201 8.96 COL11A2 COL2A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL11A2 COL2A1

Sources for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

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