Details of Disease

General Information of Disease (ID: DISRUZBR)

Disease Name Mandibuloacral dysplasia with type B lipodystrophy
Synonyms MADB; lipodystrophy, type B, associated with Mandibuloacral dysplasia; MANDIBULOACRAL dysplasia with type B lipodystrophy; mandibuloacral dysplasia with type B lipodystrophy
Disease Hierarchy
DISMOYL1: Mandibuloacral dysplasia
DISFPEQA: Laminopathy
DISRUZBR: Mandibuloacral dysplasia with type B lipodystrophy
Disease Identifiers
MONDO ID
MONDO_0012074
MESH ID
C535706
UMLS CUI
C1837756
OMIM ID
608612
MedGen ID
332940
Orphanet ID
90154
SNOMED CT ID
1003432003

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
ZMPSTE24 OTUMYTEV Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.