{"Name":"Subependymal nodular heterotopia","DiseaseID__c":"GARD:0005050","id":5050,"encodedName":"subependymal-nodular-heterotopia","IsDeleted":false,"Disease_Name_Full__c":"Subependymal nodular heterotopia","Xref_IDs__c":"699812002; C3160906; MEDGEN:781340; MONDO:0015094; ORPHA:101030","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:101030","Disease_Description__c":null,"GARD_Name__c":"Subependymal nodular heterotopia","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:101030","Curated_Disease_Description__c":"Subependymal nodular heterotopia is a rare neuronal migration disorder. In some cases, it is genetic and can be passed down in families. In other cases, it occurs sporadically. Many genetic cases are associated with mutations in the filamin A (FLNA) gene. This condition is characterized by abnormal growths of gray matter tissue along an area of the brain known as the lateral ventricular walls. In some cases, other brain malformations may be present. Most people with subependymal nodular heterotopia experience epileptic seizures during their lifetimes. The other main symptoms of this condition include cognitive decline, and neurological impairment. However, some people have atypical symptoms, small lesions in the brain, and others may not have any symptoms at all.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:101030","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015094","ORPHANET_ID__c":"ORPHA:101030","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Heterotopia nodular subependimal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"heterotopia nodular subependimal","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Subependymal nodular heterotopia is a rare neuronal migration disorder. In some cases, it is genetic and can be passed down in families. In other cases, it occurs sporadically. Many genetic cases are associated with mutations in the filamin A (FLNA) gene. This condition is characterized by abnormal growths of gray matter tissue along an area of the brain known as the lateral ventricular walls. In some cases, other brain malformations may be present. Most people with subependymal nodular heterotopia experience epileptic seizures during their lifetimes. The other main symptoms of this condition include cognitive decline, and neurological impairment. However, some people have atypical symptoms, small lesions in the brain, and others may not have any symptoms at all.","Curated_Disease_Description_Source__c":"ORPHA:101030","Name":"Subependymal nodular heterotopia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"PVNH Support & Awareness","Website__c":"https://pvnhsupport.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:101030"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:101030"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:101030"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=781340","Source__c":"C3160906","Xref__c":"MEDGEN:781340"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=699812002","Source__c":"C3160906; MONDO:0015094","Xref__c":"699812002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3160906","Source__c":"C3160906","Xref__c":"C3160906"},{"URL__c":"https://www.orpha.net/en/disease/detail/101030","Source__c":"C3160906; MONDO:0015094; ORPHA:101030","Xref__c":"ORPHA:101030"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015094","Source__c":"GARD:0005050","Xref__c":"MONDO:0015094"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002085","HPO_Synonym__c":"Brain tissue sticks out through back of skull; Occipital meningoencephalocele; Posterior encephalocele","HPO_Name__c":"Occipital encephalocele","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031006","HPO_Name__c":"Acroparesthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002126","HPO_Synonym__c":"More grooves in brain","HPO_Name__c":"Polymicrogyria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the ethmoid bone","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0430005","HPO_Synonym__c":"Abnormality of ethmoid bone","HPO_Name__c":"Abnormal ethmoid bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100022","HPO_Synonym__c":"Abnormality of movement; Movement disorder; Unusual movement","HPO_Name__c":"Abnormality of movement","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A partial failure of the development of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001338","HPO_Synonym__c":"Corpus callosum agenesis, partial; Partial agenesis of corpus callosum; Partial corpus callosum agenesis; Partial or complete agenesis of corpus callosum; Partial to complete agenesis of corpus callosum; Partial-total agenesis of corpus callosum","HPO_Name__c":"Partial agenesis of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protrusion of the meninges through a defect of the skull or vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002435","HPO_Name__c":"Meningocele","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007359","HPO_Synonym__c":"Focal onset seizure; Focal seizure; Focal seizures; Focal-onset seizures; Partial seizure; Partial seizures; Seizure affecting one half of brain","HPO_Name__c":"Focal-onset seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011818","HPO_Synonym__c":"Naso-frontal encephalocele","HPO_Name__c":"Nasofrontal encephalocele","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002475","HPO_Synonym__c":"Meningomyelocele; Spina bifida cystica","HPO_Name__c":"Myelomeningocele","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025373","HPO_Name__c":"Interictal EEG abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002349","HPO_Synonym__c":"Focal aware seizures; Focal seizure with retained awareness; Focal seizure without impairment of awareness; Focal seizure without impairment of consciousness or awareness; Focal seizures without impairment of consciousness or awareness; Partial seizure with retained awareness; Partial seizure without impairment of awareness; Simple partial seizure; Simple partial seizures","HPO_Name__c":"Focal aware seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Forward protrusion of the glabella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002057","HPO_Synonym__c":"Convex glabella; Hyperplasia of glabella; Prominent area between the eyebrows; Protruding area between the eyebrows","HPO_Name__c":"Prominent glabella","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Visual perception in the absence of a visual stimulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002367","HPO_Synonym__c":"Visual hallucinations","HPO_Name__c":"Visual hallucination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045084","HPO_Synonym__c":"Myoclonus of limbs","HPO_Name__c":"Limb myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002269","HPO_Synonym__c":"Abnormal neuronal migration; Heterotopias/abnormal migration; Migrational brain disorder; Neuronal migration disorder","HPO_Name__c":"Abnormality of neuronal migration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032046","HPO_Name__c":"Focal cortical dysplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011195","HPO_Name__c":"EEG with focal sharp slow waves","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any anomaly in the composite material or the layered arrangement of the bony skeleton.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003330","HPO_Name__c":"Abnormal bone structure","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012013","HPO_Name__c":"EEG with temporal focal spike waves","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002282","HPO_Synonym__c":"Gray matter heterotopias; Heterotopia; Heterotopias; Neuronal heterotopia","HPO_Name__c":"Gray matter heterotopia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101030","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000290","HPO_Synonym__c":"Abnormality of the forehead; Abnormality of the frontal region of the face","HPO_Name__c":"Abnormal forehead morphology","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy"]},"synonyms":[""]}