Details of Disease

General Information of Disease (ID: DISP6LBO)

Disease Name Heterotopia, periventricular, X-linked dominant
Synonyms
periventricular nodular heterotopia 4; heterotopia familial nodular; periventricular nodular heterotopia 1; NHBP; BPNH; heterotopia periventricular X-linked dominant; PVNH1; nodular heterotopia, bilateral periventricular; bilateral periventricular nodular heterotopia; periventricular nodular heterotopia 4, formerly; heterotopia, periventricular nodular, with Frontometaphyseal dysplasia; heterotopia, familial nodular; nodular heterotopia bilateral periventricular; X-linked periventricular heterotopia; heterotopia, periventricular, Ehlers-Danlos variant; heterotopia, periventricular, X-linked dominant; heterotopia, periventricular, 1, X-linked dominant
Disease Hierarchy
DISU3ZRI: Periventricular nodular heterotopia
DISP6LBO: Heterotopia, periventricular, X-linked dominant
Disease Identifiers
MONDO ID
MONDO_0010233
MESH ID
D054091
UMLS CUI
C1848213
OMIM ID
300049
MedGen ID
376309
SNOMED CT ID
448227009

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
FLNA TTSTRZY Strong Genetic Variation [1]
FLNA TTSTRZY Definitive X-linked dominant [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NEDD4L OT1B19RU Strong Biomarker [3]
FLNA OTYZ9JXM Definitive X-linked dominant [2]
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References

1 Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.Eur J Hum Genet. 2013 May;21(5):494-502. doi: 10.1038/ejhg.2012.209. Epub 2012 Oct 3.
2 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
3 Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. Nat Genet. 2016 Nov;48(11):1349-1358. doi: 10.1038/ng.3676. Epub 2016 Oct 3.