Osteosclerotic Metaphyseal Dysplasia

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OMIM 57 615198 Orphanet 59 ORPHA500548 MedGen 42 C3554665

SNOMED-CT via HPO 69 258211005 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 224958001 27837003 more UMLS 73 C3554665

OMIM : ⁵⁷ Osteosclerotic metaphyseal dysplasia is a rare condition characterized by developmental delay, hypotonia, and distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones. The shafts of the long bones are osteopenic. The skull appears to be spared. Seizures and later-onset spastic paraplegia have been reported. Laboratory abnormalities include elevated alkaline phosphatase levels in some, but not all, patients. Elevated urinary pyridinoline and deoxypyridinoline levels, markers of osteoclastic activity, have also been reported (summary by Nishimura and Kozlowski, 1993 and Kasapkara et al., 2013). (615198)

MalaCards based summary : Osteosclerotic Metaphyseal Dysplasia, also known as osmd, is related to pyle disease and porphyria, acute hepatic. An important gene associated with Osteosclerotic Metaphyseal Dysplasia is LRRK1 (Leucine Rich Repeat Kinase 1). Affiliated tissues include bone, and related phenotypes are intellectual disability and seizures

Clinical features from OMIM:

615198

Search Clinical Trials , NIH Clinical Center for Osteosclerotic Metaphyseal Dysplasia

Search GEO for disease gene expression data for Osteosclerotic Metaphyseal Dysplasia.