Periventricular Nodular Heterotopia 8 (PVNH8)

External Ids:

OMIM 56 618185 OMIM Phenotypic Series 56 PS300049 MeSH 43 D054091

MedGen 41 C4748602 CN257784 SNOMED-CT via HPO 68 128613002 135810007 162294008 221360009 229721007 246545002 263681008 271611007 29164008 313307000 397790002 406506008 62415009 7461003 84757009 91175000 more

UniProtKB/Swiss-Prot : ⁷³ Periventricular nodular heterotopia 8: A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH8 is an autosomal dominant disease characterized by developmental disabilities, speech delay, seizures and attention deficit hyperactivity disorder.

MalaCards based summary : Periventricular Nodular Heterotopia 8, is also known as pvnh8. An important gene associated with Periventricular Nodular Heterotopia 8 is ARF1 (ADP Ribosylation Factor 1). Affiliated tissues include brain, and related phenotypes are seizures and microcephaly

OMIM : ⁵⁶ Periventricular nodular heterotopia-8 (PVNH8) is a neurologic disorder characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development. Three patients have been reported (Ge et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see PVNH1 (300049). (618185)

Clinical features from OMIM:

618185

Search Clinical Trials , NIH Clinical Center for Periventricular Nodular Heterotopia 8

Search GEO for disease gene expression data for Periventricular Nodular Heterotopia 8.