Osteosclerotic metaphyseal dysplasia

Preferred Label : Osteosclerotic metaphyseal dysplasia;

Symbol : OSMD;

CISMeF acronym : OSMD;

Type : Phenotype, molecular basis known;

Description : 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).;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Elevated AST (aspartate aminotransferase) and CPK (creatine phosphokinase); Elevated alkaline phosphatase (in one patient); Elevated urinary pyridinoline and deoxypyridinoline;

Prefixed ID : #615198;

Details

Origin ID

615198;

UMLS CUI

C3554665;

Automatic exact mappings (from CISMeF team)
- Osteosclerotic metaphyseal dysplasia [ORDO Disease]
Currated CISMeF NLP mapping
- Osteosclerotic metaphyseal dysplasia (disorder) [SNOMED CT concept]
Genes related to phenotype
- Leucine-rich repeat kinase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Clavicular sclerosis [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Metaphyseal dysplasia [HPO term]
- Seizure [HPO term]
Not associated HPO term(s)
- Increased bone mineral density [HPO term]
ORDO concept(s)
- Osteosclerotic metaphyseal dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteosclerotic metaphyseal dysplasia (disorder) [SNOMED CT concept]

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