Details of Disease

General Information of Disease (ID: DISNQG58)

Disease Name Melorheostosis with osteopoikilosis
Synonyms dystrophy osseous sclerosing mixed; mixed sclerosing bone dystrophy; MSBD syndrome
Definition
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.
Disease Hierarchy
DIS5Z8U6: Skeletal dysplasia
DISNQG58: Melorheostosis with osteopoikilosis
Disease Identifiers
MONDO ID
MONDO_0015995
MESH ID
C563593
UMLS CUI
C3149695
MedGen ID
461045
Orphanet ID
1879
SNOMED CT ID
1197053003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LEMD3 OTILAM4I Supportive Autosomal dominant [1]
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References

1 Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet. 2004 Nov;36(11):1213-8. doi: 10.1038/ng1453. Epub 2004 Oct 17.