Multiple epiphyseal dysplasia type 1

Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 12

HPO ID Term Frequency
HP:0002656 Epiphyseal dysplasia Very frequent (99-80%)
HP:0002758 Osteoarthritis Very frequent (99-80%)
HP:0001288 Gait disturbance Frequent (79-30%)
HP:0001373 Joint dislocation Frequent (79-30%)
HP:0001376 Limitation of joint mobility Frequent (79-30%)
HP:0001385 Hip dysplasia Frequent (79-30%)
HP:0002829 Arthralgia Frequent (79-30%)
HP:0002983 Micromelia Frequent (79-30%)
HP:0003502 Mild short stature Frequent (79-30%)
HP:0004279 Short palm Frequent (79-30%)
HP:0002857 Genu valgum Occasional (29-5%)
HP:0002970 Genu varum Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
COMP cartilage oligomeric matrix protein 1311