Details of Disease

General Information of Disease (ID: DISFRNO5)

Disease Name MEND syndrome
Synonyms MEND; Male EBP disorder with neurologic defects; Male EBP disorder with neurological defects; MEND syndrome, X-linked recessive; MEND syndrome
Disease Hierarchy
DIS91IFI: Sterol biosynthesis disorder
DISFRNO5: MEND syndrome
Disease Identifiers
MONDO ID
MONDO_0010498
UMLS CUI
C4085243
OMIM ID
300960
MedGen ID
905986
Orphanet ID
401973

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
EBP TT4VQZX Limited Genetic Variation [1]
EBP TT4VQZX Definitive X-linked [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EBP OTSMGKXQ Definitive X-linked [2]
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References

1 Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.Mol Genet Genomic Med. 2019 Sep;7(9):e931. doi: 10.1002/mgg3.931. Epub 2019 Aug 8.
2 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.