Otospondylomegaepiphyseal dysplasia

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.



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Narrow down the case reports



Total: 3 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(32.2%)		 18381781
 Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene.
Avcin T, Makitie O, Susic M, Miller S, Thorne C, Tenenbaum J, Laxer RM, Cole WG.
J Rheumatol. 2008;35(5):920-6.
Hearing impairment Skeletal dysplasia Enlarged epiphyses
COL11A2
rs145499142
Adult Alleles Amino Acid Sequence Base Sequence Child Collagen Type XI DNA Exons Females Homo sapiens Magnetic Resonance Imaging Male Middle Aged Molecular Sequence Data Mutation Osteochondrodysplasias
2
(21.2%)		 21204229
 A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.
Kayserili H, Wollnik B, Guven G, Emiroglu MU, Baserer N, Uyguner ZO.
Am J Med Genet A. 2011;155A(1):180-5.
Osteoarthritis
COL11A2
c|DEL|2763|T
Base Sequence Child Collagen Type XI Dwarfism Exons Females Gene Deletion Homo sapiens Male Molecular Sequence Data Osteochondrodysplasias Phenotype RNA Stability Reverse Transcriptase Polymerase Chain Reaction Sequence Analysis, DNA Short Tandem Repeat Spinal Diseases
3
(4.0%)		 21208667
(3040286)
 Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2.
Tokgoz-Ylmaz S, Sahl S, Fitoz S, Sennaroglu G, Tekin M.
Int J Pediatr Otorhinolaryngol. 2011;75(3):433-7.
Hearing impairment
COL11A2
Acoustic Evoked Brain Stem Potentials Audiometry Auditory Threshold Child, Preschool Collagen Type XI Dwarfism Homo sapiens Male Mutation Osteochondrodysplasias Otoacoustic Emissions, Spontaneous Speech Intelligibility Spinal Diseases
        

Phenotype(s) retrieved from Orphanet

    Total: 19

HPO ID Term Frequency
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000272 Malar flattening Very frequent (99-80%)
HP:0000407 Sensorineural hearing impairment Very frequent (99-80%)
HP:0000457 Depressed nasal ridge Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0000926 Platyspondyly Very frequent (99-80%)
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0001387 Joint stiffness Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0003312 Abnormal form of the vertebral bodies Very frequent (99-80%)
HP:0000951 Abnormality of the skin Frequent (79-30%)
HP:0002808 Kyphosis Frequent (79-30%)
HP:0003307 Hyperlordosis Frequent (79-30%)
HP:0006532 Recurrent pneumonia Frequent (79-30%)
HP:0008872 Feeding difficulties in infancy Frequent (79-30%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0001629 Ventricular septal defect Occasional (29-5%)
HP:0005048 Synostosis of carpal bones Occasional (29-5%)
HP:0011481 Abnormal lacrimal duct morphology Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0002758 Osteoarthritis 2


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
COL11A2 collagen type XI alpha 2 chain 1302