Details of Disease

General Information of Disease (ID: DIS1E2VZ)

Disease Name Periventricular nodular heterotopia 7
Synonyms
periventricular nodular heterotopia 7; PVNH7; periventricular nodular heterotopia caused by mutation in NEDD4L; NEDD4L periventricular nodular heterotopia; periventricular nodular heterotopia type 7; PVNH7; periventricular nodular heterotopia 7
Definition Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene.
Disease Hierarchy
DISU3ZRI: Periventricular nodular heterotopia
DIS1E2VZ: Periventricular nodular heterotopia 7
Disease Identifiers
MONDO ID
MONDO_0014966
UMLS CUI
C4310669
OMIM ID
617201
MedGen ID
934636

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
NEDD4L OT1B19RU Definitive Autosomal dominant [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.