OSMEDA
MCID: OTS014
MIFTS: 52

Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant (OSMEDA)

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

Aliases & Classifications for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

MalaCards integrated aliases for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:

Name: Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 57 75
Weissenbacher-Zweymuller Syndrome 57 12 76 53 29 13 55 6 15 40
Pierre Robin Syndrome with Fetal Chondrodysplasia 53 25 75 73
Wzs 57 53 25 75
Heterozygous Osmed 25 59 75
Heterozygous Otospondylomegaepiphyseal Dysplasia 25 59
Weissenbacher-Zweymüller Syndrome 53 25
Stickler Syndrome, Type Iii 13 40
Osmeda 57 75
Pierre Robin Syndrome with Fetal Chondrodysplasia Stickler Syndrome, Nonocular Type, Formerly 57
Stickler Syndrome, Type Iii, Formerly; Stl3, Formerly 57
Pierre Robin Sequence-Fetal Chondrodysplasia Syndrome 59
Pierre Robin Syndrome-Fetal Chondrodysplasia Syndrome 59
Weissenbacher-Zweymuller Syndrome; Wzs 57
Stickler Syndrome, Type Iii, Formerly 57
Stickler Syndrome, Non-Ocular Type 59
Weissenbacher- Zweymuller Syndrome 59
Weissenbacher-Zweymueller Syndrome 75
Stickler Syndrome Non-Ocular Type 75
Weissenbacherzweymuller Syndrome 76
Stickler Syndrome Type Iii 75
Pierre Robin Malformation 12
Stickler Syndrome, Type 3 73
Stickler Syndrome Type 3 59
Stickler-Like Syndrome 75
Pierre Robin Syndrome 44
Piere-Robin Syndrome 12
Osmed, Heterozygous 57
Stickler Syndrome 3 75
Stl3, Formerly 57
Stl3 75

Characteristics:

Orphanet epidemiological data:

59
stickler syndrome type 3
Inheritance: Autosomal dominant;
weissenbacher- zweymuller syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
allelic to osmed and weissenbacher-zweymuller syndrome
also called 'heterozygous osmed' and 'autosomal dominant osmed'


HPO:

32
otospondylomegaepiphyseal dysplasia, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3450Disease definitionWeissenbacher-Zweymuller syndrome (WZS) is characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelorism and vertebral coronal clefts.EpidemiologyWZS is a very rare condition, only a few families have been reported worldwide.Clinical descriptionWZS patients have a period of gradual growth that leads to normal physical development by age 5 to 6 years and final moderate short stature rather than normal stature. Hearing loss is common.EtiologyWZS is caused by heterozygousmutations in the COL11A2 gene.Differential diagnosisAbsence of ocular abnormalities differentiates WZS from Stickler syndrome.Genetic counselingWZS is transmitted as an autosomal dominanttrait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant, also known as weissenbacher-zweymuller syndrome, is related to otospondylomegaepiphyseal dysplasia, autosomal recessive and cleft palate, isolated, and has symptoms including arthralgia An important gene associated with Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant is COL11A2 (Collagen Type XI Alpha 2 Chain), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include bone, eye and heart, and related phenotypes are malar flattening and hypertelorism

Disease Ontology : 12 An osteochondrodysplasia that results in shortened long bones and distinct facial abnormalities.

Genetics Home Reference : 25 Weissenbacher-Zweym├╝ller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. The features of this condition significantly overlap those of two similar conditions, otospondylomegaepiphyseal dysplasia (OSMED) 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 them apart. Some researchers believe they represent a single disorder with a range of signs and symptoms.

OMIM : 57 Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994). (184840)

UniProtKB/Swiss-Prot : 75 Otospondylomegaepiphyseal dysplasia, autosomal dominant: An autosomal dominant 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 : 76 Weissenbacher´┐Ż??Zweymuller syndrome (WZS), also called Pierre-Robin syndrome with fetal... more...

Related Diseases for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Diseases in the Otospondylomegaepiphyseal Dysplasia family:

Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

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

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 otospondylomegaepiphyseal dysplasia, autosomal recessive 32.4 COL2A1 COL11A2
2 cleft palate, isolated 30.4 COL2A1 COL11A2 COL11A1
3 otospondylomegaepiphyseal dysplasia 30.1 COL2A1 COL11A2 COL11A1
4 stickler syndrome 29.6 COL2A1 COL11A2 COL11A1
5 pierre robin syndrome 12.8
6 pierre robin syndrome and oligodactyly 12.5
7 pierre robin syndrome skeletal dysplasia polydactyly 12.3
8 contractures-developmental delay-pierre robin syndrome 12.3
9 catel-manzke syndrome 12.3
10 tarp syndrome 11.7
11 isolated pierre robin sequence 11.4
12 robin sequence with cleft mandible and limb anomalies 11.3
13 pierre robin sequence with facial and digital anomalies 11.3
14 robin sequence with distinctive facial appearance and brachydactyly 11.3
15 chitayat meunier hodgkinson syndrome 11.3
16 hypoglossia-hypodactylia 11.2
17 diamond-blackfan anemia 1 11.2
18 diamond-blackfan anemia 14 with mandibulofacial dysostosis 11.2
19 diamond-blackfan anemia 15 with mandibulofacial dysostosis 11.2
20 diamond-blackfan anemia 3 11.2
21 diamond-blackfan anemia 4 11.2
22 diamond-blackfan anemia 5 11.2
23 diamond-blackfan anemia 6 11.2
24 diamond-blackfan anemia 7 11.2
25 diamond-blackfan anemia 8 11.2
26 diamond-blackfan anemia 9 11.2
27 diamond-blackfan anemia 10 11.2
28 diamond-blackfan anemia 11 11.2
29 diamond-blackfan anemia 12 11.2
30 diamond-blackfan anemia 13 11.2
31 diamond-blackfan anemia 16 11.2
32 diamond-blackfan anemia 17 11.2
33 stickler syndrome, type i 11.2
34 stickler syndrome, type ii 11.2
35 stickler syndrome, type 3 11.1
36 disorganization, mouse, homolog of 10.3
37 ankyloglossia 10.2
38 sacral defect with anterior meningocele 10.2
39 heart disease 10.2
40 cleft lip 10.2
41 aging 10.1
42 choanal atresia, posterior 10.1
43 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
44 wilms tumor 6 10.1
45 alkuraya-kucinskas syndrome 10.1
46 pulmonary hypertension 10.1
47 hydrocephalus 10.1
48 congenital hypothyroidism 10.1
49 distal arthrogryposis 10.1
50 portal hypertension 10.1

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



Diseases related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Symptoms & Phenotypes for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
anteverted nares

Skeletal:
epiphyseal dysplasia

Head And Neck Ears:
sensorineural hearing loss

Skeletal Spine:
mild platyspondyly

Head And Neck Mouth:
cleft palate
pierre-robin sequence

Head And Neck Face:
midface hypoplasia

Skeletal Limbs:
premature osteoarthritis
joint pain
large epiphyses

Head And Neck Eyes:
no ocular symptoms


Clinical features from OMIM:

184840

Human phenotypes related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
4 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
5 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
6 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
7 pectus carinatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000768
8 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
9 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
10 glossoptosis 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0000162
11 cleft palate 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000175
12 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
13 micrognathia 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0000347
14 abnormal metacarpal morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005916
15 exostoses 59 32 occasional (7.5%) Occasional (29-5%) HP:0100777
16 attention deficit hyperactivity disorder 59 32 hallmark (90%) Very frequent (99-80%) HP:0007018
17 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
18 rhizomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008905
19 conductive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000405
20 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
21 delayed gross motor development 59 32 hallmark (90%) Very frequent (99-80%) HP:0002194
22 coronal cleft vertebrae 59 32 hallmark (90%) Very frequent (99-80%) HP:0003417
23 short femur 59 32 hallmark (90%) Very frequent (99-80%) HP:0003097
24 muscular hypotonia of the trunk 59 32 hallmark (90%) Very frequent (99-80%) HP:0008936
25 metaphyseal widening 59 32 hallmark (90%) Very frequent (99-80%) HP:0003016
26 mild neurosensory hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0008587
27 submucous cleft soft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0011819
28 muscular hypotonia 59 Very frequent (99-80%)
29 anteverted nares 32 HP:0000463
30 abnormality of the eye 32 HP:0000478
31 epiphyseal dysplasia 32 HP:0002656
32 platyspondyly 32 HP:0000926
33 midface retrusion 32 HP:0011800
34 hyperactivity 59 Very frequent (99-80%)
35 abnormality of the mandible 59 Very frequent (99-80%)
36 pierre-robin sequence 32 HP:0000201
37 enlarged epiphyses 32 HP:0010580
38 premature osteoarthritis 32 HP:0003088

UMLS symptoms related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:


arthralgia

MGI Mouse Phenotypes related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.13 COL11A1 COL11A2 COL2A1
2 hearing/vestibular/ear MP:0005377 8.8 COL11A1 COL11A2 COL2A1

Drugs & Therapeutics for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

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

Cochrane evidence based reviews: pierre robin syndrome

Genetic Tests for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Genetic tests related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Weissenbacher-Zweymuller Syndrome 29

Anatomical Context for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

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

41
Bone, Eye, Heart, Tongue

Publications for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Articles related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:

# Title Authors Year
1
COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED). ( 15558753 )
2005
2
The ocular manifestations of Weissenbacher-Zweymuller syndrome. ( 15044941 )
2004
3
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
4
Weissenbacher-Zweymuller syndrome: long-term follow-up of growth and psychomotor development. ( 1723388 )
1991
5
The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth. ( 813535 )
1975

Variations for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

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

75
# Symbol AA change Variation ID SNP ID
1 COL11A2 p.Gly1441Glu VAR_013595 rs121912946

ClinVar genetic disease variations for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:

6 (show top 50) (show all 220)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL11A2 NM_080680.2(COL11A2): c.4392+1G> A single nucleotide variant Pathogenic rs750995470 GRCh37 Chromosome 6, 33134289: 33134289
2 COL11A2 NM_080680.2(COL11A2): c.4392+1G> A single nucleotide variant Pathogenic rs750995470 GRCh38 Chromosome 6, 33166512: 33166512
3 COL11A2 NM_080680.2(COL11A2): c.2822_2848del27 (p.Glu941_Pro950delinsAla) deletion Pathogenic rs864309477 GRCh38 Chromosome 6, 33172580: 33172606
4 COL11A2 NM_080680.2(COL11A2): c.2822_2848del27 (p.Glu941_Pro950delinsAla) deletion Pathogenic rs864309477 GRCh37 Chromosome 6, 33140357: 33140383
5 COL11A2 NM_080680.2(COL11A2): c.4322G> A (p.Gly1441Glu) single nucleotide variant Pathogenic rs121912946 GRCh37 Chromosome 6, 33134513: 33134513
6 COL11A2 NM_080680.2(COL11A2): c.4322G> A (p.Gly1441Glu) single nucleotide variant Pathogenic rs121912946 GRCh38 Chromosome 6, 33166736: 33166736
7 COL11A2 NM_080680.2(COL11A2): c.4135C> T (p.Arg1379Ter) single nucleotide variant Pathogenic rs121912950 GRCh37 Chromosome 6, 33135082: 33135082
8 COL11A2 NM_080680.2(COL11A2): c.4135C> T (p.Arg1379Ter) single nucleotide variant Pathogenic rs121912950 GRCh38 Chromosome 6, 33167305: 33167305
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 GRCh37 Chromosome 6, 33131451: 33131451
42 COL11A2 NM_080680.2(COL11A2): c.*4C> T single nucleotide variant Benign/Likely benign rs186720023 GRCh38 Chromosome 6, 33163674: 33163674
43 COL11A2 NM_080680.2(COL11A2): c.4884G> C (p.Glu1628Asp) single nucleotide variant Benign/Likely benign rs2229790 GRCh37 Chromosome 6, 33132230: 33132230
44 COL11A2 NM_080680.2(COL11A2): c.4884G> C (p.Glu1628Asp) single nucleotide variant Benign/Likely benign rs2229790 GRCh38 Chromosome 6, 33164453: 33164453
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 Dominant

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

Pathways for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

GO Terms for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.5 COL11A1 COL11A2 COL2A1
2 endoplasmic reticulum lumen GO:0005788 9.43 COL11A1 COL11A2 COL2A1
3 collagen-containing extracellular matrix GO:0062023 9.33 COL11A1 COL11A2 COL2A1
4 collagen trimer GO:0005581 9.13 COL11A1 COL11A2 COL2A1
5 collagen type XI trimer GO:0005592 8.62 COL11A1 COL11A2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.55 COL11A1 COL2A1
2 skeletal system development GO:0001501 9.54 COL11A2 COL2A1
3 extracellular matrix organization GO:0030198 9.54 COL11A1 COL11A2 COL2A1
4 ossification GO:0001503 9.52 COL11A1 COL2A1
5 roof of mouth development GO:0060021 9.51 COL11A2 COL2A1
6 sensory perception of sound GO:0007605 9.5 COL11A1 COL11A2 COL2A1
7 inner ear morphogenesis GO:0042472 9.49 COL11A1 COL2A1
8 heart morphogenesis GO:0003007 9.48 COL11A1 COL2A1
9 chondrocyte differentiation GO:0002062 9.46 COL11A2 COL2A1
10 tissue homeostasis GO:0001894 9.43 COL11A2 COL2A1
11 cartilage condensation GO:0001502 9.4 COL11A1 COL2A1
12 cartilage development GO:0051216 9.33 COL11A1 COL11A2 COL2A1
13 proteoglycan metabolic process GO:0006029 9.26 COL11A1 COL2A1
14 collagen fibril organization GO:0030199 9.13 COL11A1 COL11A2 COL2A1
15 skeletal system morphogenesis GO:0048705 8.8 COL11A1 COL11A2 COL2A1

Molecular functions related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 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 GO:0005201 9.13 COL11A1 COL11A2 COL2A1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.8 COL11A1 COL11A2 COL2A1

Sources for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

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
Content
Loading form....