Details of Disease | DrugMAP

General Information of Disease (ID: DIS174EL)

Disease Name	Lenz-Majewski hyperostotic dwarfism
Synonyms	multiple congenital anomalies, mental retardation and progressive skeletal sclerosis; Lenz-Majewski hyperostotic dysplasia; Lenz Majewski hyperostotic dwarfism; Lenz-Majewski syndrome; multiple congenital anomalies, intellectual disability and progressive skeletal sclerosis; LMHD; hyperostotic dwarfism Lenz-Majewski type; Lenz-Majewski hyperostotic dwarfism
Definition	Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DIS5Z8U6: Skeletal dysplasia DIS174EL: Lenz-Majewski hyperostotic dwarfism
Disease Identifiers	MONDO ID MONDO_0007892 MESH ID C537115 UMLS CUI C0432269 OMIM ID 151050 MedGen ID 98483 Orphanet ID 2658 SNOMED CT ID 1393001

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
PTDSS1	OTXLIBD7	Definitive	Autosomal dominant	[1]
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References

1	Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. Nat Genet. 2014 Jan;46(1):70-6. doi: 10.1038/ng.2829. Epub 2013 Nov 17.