Periventricular nodular heterotopia 1

Preferred Label : Periventricular nodular heterotopia 1;

Symbol : PVNH1;

CISMeF acronym : BPNH; PVNH1; PVNH4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Heterotopia, periventricular, X-linked dominant; Heterotopia, familial nodular; Nodular heterotopia, bilateral periventricular; Heterotopia, periventricular, ehlers-danlos variant; Periventricular nodular heterotopia 4; NHBP; BPNH; PVNH4;

Included titles and symbols : Heterotopia, periventricular nodular, with frontometaphyseal dysplasia;

Description : Periventricular nodular heterotopia is a disorder of neuronal migration in which neurons fail to migrate appropriately from the ventricular zone to the cortex during development, resulting in the formation of nodular brain tissue lining the ventricles. Most affected individuals with the X-linked form are female, while hemizygous males tend to die in utero. Affected females usually present with epilepsy, but have normal intelligence. Additional features include defects of the cardiovascular system, such as patent ductus arteriosus, bicuspid aortic valve, and dilation of the sinuses of Valsalva or the thoracic aorta (summary by Fox et al., 1998). - Genetic Heterogeneity of Periventricular Nodular Heterotopia Periventricular nodular heterotopia is a genetically heterogeneous condition: see also PVNH2 (608097), caused by mutation in the ARFGEF2 gene (605371) on chromosome 20q13; PVNH3 (608098), associated with anomalies of 5p; PVNH4 (300537), also caused by FLNA mutations and associated with Ehlers-Danlos syndrome; PVNH5 (612881), associated with deletions of chromosome 5q; and PVNH6 (615544), caused by mutation in the ERMARD gene (615532) on chromosome 6q27.;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the filamin A gene (FLNA, 300017.0001);

Prefixed ID : #300049;

Details

Origin ID

300049;

UMLS CUI

C1848213;

Automatic exact mappings (from CISMeF team)
- FLNA wt Allele [NCIt concept]
- Huron Potawatomi [NCIt concept]
- Nodular neuronal heterotopia [ORDO Disease]
- Periventricular nodular heterotopia [ORDO Disease]
- heterotopia, periventricular nodular, with frontometaphyseal dysplasia [MeSH concept]
- heterotopia, periventricular nodular, with frontometaphyseal dysplasia [MeSH Supplementary Concept]
- heterotopia, periventricular, Ehlers-Danlos variant [MeSH concept]
- heterotopia, periventricular, Ehlers-Danlos variant [MeSH Supplementary Concept]
- periventricular heterotopia, X-Linked [MeSH concept]
- periventricular nodular heterotopia [MeSH Descriptor]
Broader ORDO disease(s)
- Nodular neuronal heterotopia [ORDO Disease]
Currated CISMeF NLP mapping
- X-linked periventricular heterotopia (disorder) [SNOMED CT concept]
- periventricular nodular heterotopia 1 [Disease (Nov.)]
DO Cross reference
- periventricular nodular heterotopia [DO Concept]
Genes related to phenotype
- Filamin a [OMIM gene]
HPO term(s)
- Abnormality of neuronal migration [HPO term]
- Abnormality of the coagulation cascade [HPO term]
- Bicuspid aortic valve [HPO term]
- Cerebrovascular accident [HPO term]
- Gray matter heterotopia [HPO term]
- Intellectual disability, mild [HPO term]
- Intractable seizures [HPO term]
- Patent ductus arteriosus [HPO term]
- Seizure [HPO term]
- Stroke [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Nodular neuronal heterotopia [ORDO Disease]
- Periventricular nodular heterotopia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked periventricular heterotopia (disorder) [SNOMED CT concept]
- periventricular heterotopia, X-Linked [MeSH concept]
- periventricular nodular heterotopia 1 [Disease (Nov.)]

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