PVNH2
MCID: PRV020
MIFTS: 20
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Periventricular Heterotopia with Microcephaly, Autosomal Recessive (PVNH2)
Categories:
Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Periventricular Heterotopia with Microcephaly, Autosomal Recessive:
Name: Periventricular Heterotopia with Microcephaly, Autosomal Recessive
57
Characteristics:HPO:32
periventricular heterotopia with microcephaly, autosomal recessive:
Onset and clinical course infantile onset Inheritance autosomal recessive inheritance Classifications: |
UniProtKB/Swiss-Prot
:
75
Periventricular nodular heterotopia 2: A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH2 is an autosomal recessive form characterized by microcephaly (small brain), severe developmental delay and recurrent infections. No anomalies extrinsic to the central nervous system, such as dysmorphic features or grossly abnormal endocrine or other conditions, are associated with PVNH2.
MalaCards based summary : Periventricular Heterotopia with Microcephaly, Autosomal Recessive, is also known as heterotopia, periventricular, autosomal recessive, and has symptoms including seizures and quadriparesis. An important gene associated with Periventricular Heterotopia with Microcephaly, Autosomal Recessive is ARFGEF2 (ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 2). Affiliated tissues include brain, cortex and eye, and related phenotypes are seizures and failure to thrive
Description from OMIM:
608097
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:608097Human phenotypes related to Periventricular Heterotopia with Microcephaly, Autosomal Recessive:32 (show all 11)
UMLS symptoms related to Periventricular Heterotopia with Microcephaly, Autosomal Recessive:seizures, quadriparesis |
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MalaCards organs/tissues related to Periventricular Heterotopia with Microcephaly, Autosomal Recessive:41
Brain,
Cortex,
Eye
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ClinVar genetic disease variations for Periventricular Heterotopia with Microcephaly, Autosomal Recessive:6 (show all 11)
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Search
GEO
for disease gene expression data for Periventricular Heterotopia with Microcephaly, Autosomal Recessive.
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