PVNH8
MCID: PRV021
MIFTS: 21
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Periventricular Nodular Heterotopia 8 (PVNH8)
Categories:
Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Periventricular Nodular Heterotopia 8:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
three patients have been reported (last curated november 2018) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Cardiovascular diseases Blood diseases |
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 microcephaly and seizure OMIM® : 57 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) (Updated 05-Mar-2021) |
Diseases in the Periventricular Nodular Heterotopia family: |
Human phenotypes related to Periventricular Nodular Heterotopia 8:31 (show all 7)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618185 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Periventricular Nodular Heterotopia 8:40
Brain
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Articles related to Periventricular Nodular Heterotopia 8:
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ClinVar genetic disease variations for Periventricular Nodular Heterotopia 8:6
UniProtKB/Swiss-Prot genetic disease variations for Periventricular Nodular Heterotopia 8:73
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Search
GEO
for disease gene expression data for Periventricular Nodular Heterotopia 8.
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