OSMD
MCID: OST168
MIFTS: 21
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Osteosclerotic Metaphyseal Dysplasia (OSMD)
Categories:
Bone diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Osteosclerotic Metaphyseal Dysplasia:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
four patients reported (last curated april 2013) HPO:32Classifications: |
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 |
Diseases related to Osteosclerotic Metaphyseal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615198Human phenotypes related to Osteosclerotic Metaphyseal Dysplasia:32 (show all 7)
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MalaCards organs/tissues related to Osteosclerotic Metaphyseal Dysplasia:41
Bone
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Articles related to Osteosclerotic Metaphyseal Dysplasia:
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ClinVar genetic disease variations for Osteosclerotic Metaphyseal Dysplasia:6
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Search
GEO
for disease gene expression data for Osteosclerotic Metaphyseal Dysplasia.
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