EDM1

EDM1

Abbreviation for:
epiphyseal dysplasia, multiple 1
References in periodicals archive ?
Multiple epiphyseal dysplasia (MED; EDM1, OMIM 132400; EDM2, OMIM 600204; EDM3, OMIM 600969; EDM4, OMIM 226900; EDM5, OMIM 607078; EDM6, OMIM 614135) is an autosomal dominant inherited disease of the skeletal system, characterized by mild short stature and early-onset degenerative joint disease, caused by heterogeneous genotypes involving more than six genes ( COMP , COL9A1 , COL9A2 , COL9A3 , MATN3 , DTDST ).[sup][1] However, in approximately 10–20% of all samples analyzed, a mutation cannot be identified in any of the six genes mentioned above, suggesting that the presence of other unidentified causative genes is also involved in the pathogenesis of MED.[sup][1]
The COMP associated with EDM1 is the most common form of MED, accounting for at least half of the cases.[sup][1] MED usually presents with pain in the hips and/or knees after exercise, small height, relatively short limbs in comparison with a normal trunk, pain, and progression of joint deformity.
This consensus region, called EDM1 (Environmental Induced Differential Methylation Consensus Sequence 1), has up to three potential CpG repeats, depending on the sequence.