{"Name":"Familial encephalopathy with neuroserpin inclusion bodies","DiseaseID__c":"GARD:0010037","id":10037,"encodedName":"familial-encephalopathy-with-neuroserpin-inclusion-bodies","IsDeleted":false,"Disease_Name_Full__c":"Familial encephalopathy with neuroserpin inclusion bodies","Xref_IDs__c":"702421006; C1858680; C214861; C536841; DOID:0050831; MEDGEN:346965; MONDO:0011412; OMIM:604218; ORPHA:85110","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:85110","Disease_Description__c":"A rare serpinopathy characterized by progressive myoclonus epilepsy and/or pre-senile dementia with prominent frontal-lobe features and relative sparing of recall memory. In addition, other neurological manifestations like cerebellar symptoms and pyramidal signs may be present. Age of onset is variable, the disease having been reported in children as well as elderly patients. Neuropathological examination reveals the typical neuronal inclusions of mutated neuroserpin (Collins bodies).","GARD_Name__c":"Familial encephalopathy with neuroserpin inclusion bodies","GARD_Synonym__c":"encephalopathy, familial, with collins bodies; familial dementia with neuroserpin inclusion bodies; fenib","Curated_Disease_Description_Source__c":"ORPHA:85110","Curated_Disease_Description__c":"Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a disorder that causes progressive dysfunction of the brain (encephalopathy). This condition is characterized by a loss of intellectual functioning (dementia) and seizures. The first signs of intellectual impairment in individuals with FENIB may be problems with attention and concentration. Affected individuals may have trouble regulating their thoughts or speech. As the condition progresses, personality changes develop, and judgment, insight, and memory become impaired. Affected individuals lose the ability to perform the activities of daily living, and most eventually require comprehensive care. People with FENIB have seizures that involve a sudden, involuntary muscle jerking or twitching (myoclonus). Many also experience at least one other form of seizure, typically generalized seizures that involve a loss of consciousness, muscle rigidity, and convulsions. In rare cases, people with FENIB have prolonged episodes of seizure activity that last several minutes (status epilepticus). In most people with FENIB, anti-seizure medications are not effective. Many people with FENIB have other types of involuntary movement (dyskinesia). The signs and symptoms of FENIB can appear at any age, and they vary in severity. In severe cases, dementia can appear in childhood or adolescence and is often the first sign of the condition. Less severe cases are characterized by a progressive decline in intellectual functioning that begins in mid- to late adulthood. People with FENIB have a shortened life expectancy. The earlier the signs and symptoms appear, the greater the impact on life expectancy. Causes of death in people with FENIB include status epilepticus and pneumonia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:85110","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011412","ORPHANET_ID__c":"ORPHA:85110","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Encefalopatía con cuerpos de inclusión de neuroserpina, forma familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"encefalopatía con cuerpos de inclusión de neuroserpina, forma familiar","Spanish_GARD_Synonym__c":"fenib","Category_Linearization__c":"ORPHA:98006","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":"Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a disorder that causes progressive dysfunction of the brain (encephalopathy). This condition is characterized by a loss of intellectual functioning (dementia) and seizures. The first signs of intellectual impairment in individuals with FENIB may be problems with attention and concentration. Affected individuals may have trouble regulating their thoughts or speech. As the condition progresses, personality changes develop, and judgment, insight, and memory become impaired. Affected individuals lose the ability to perform the activities of daily living, and most eventually require comprehensive care. People with FENIB have seizures that involve a sudden, involuntary muscle jerking or twitching (myoclonus). Many also experience at least one other form of seizure, typically generalized seizures that involve a loss of consciousness, muscle rigidity, and convulsions. In rare cases, people with FENIB have prolonged episodes of seizure activity that last several minutes (status epilepticus). In most people with FENIB, anti-seizure medications are not effective. Many people with FENIB have other types of involuntary movement (dyskinesia). The signs and symptoms of FENIB can appear at any age, and they vary in severity. In severe cases, dementia can appear in childhood or adolescence and is often the first sign of the condition. Less severe cases are characterized by a progressive decline in intellectual functioning that begins in mid- to late adulthood. People with FENIB have a shortened life expectancy. The earlier the signs and symptoms appear, the greater the impact on life expectancy. Causes of death in people with FENIB include status epilepticus and pneumonia.","Curated_Disease_Description_Source__c":"ORPHA:85110","GARD_Synonym__c":"encephalopathy, familial, with collins bodies; familial dementia with neuroserpin inclusion bodies; fenib","Name":"Familial encephalopathy with neuroserpin inclusion bodies","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Childhood Dementia Initiative","Website__c":"https://www.childhooddementia.org/"}],"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":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:85110"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:85110"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:85110"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1858680"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/85110","Source__c":"C1858680; MONDO:0011412; ORPHA:85110","Xref__c":"ORPHA:85110"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=346965","Source__c":"C1858680","Xref__c":"MEDGEN:346965"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1858680","Source__c":"C1858680","Xref__c":"C1858680"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050831","Source__c":"MONDO:0011412","Xref__c":"DOID:0050831"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536841","Source__c":"MONDO:0011412","Xref__c":"C536841"},{"URL__c":"https://www.omim.org/entry/604218","Source__c":"C1858680; MONDO:0011412; ORPHA:85110","Xref__c":"OMIM:604218"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702421006","Source__c":"C1858680; MONDO:0011412","Xref__c":"702421006"},{"URL__c":"https://medlineplus.gov/genetics/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies","Source__c":"GARD:0010037","Xref__c":"https://medlineplus.gov/genetics/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011412","Source__c":"GARD:0010037","Xref__c":"MONDO:0011412"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C214861","Source__c":"C1858680","Xref__c":"C214861"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SERPINI1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/serpini1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:604218","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":"OMIM:604218","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neurons that stain with eosin, a red or pink dye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6001062","HPO_Name__c":"Eosinophilic neuronal inclusion bodies","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604218","Feature__r":{"HPO_Description__c":"An abnormal reduction in sensation in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002936","HPO_Synonym__c":"Decreased distal sensation; Decreased sensation in extremities; Distal sensation loss; Distal sensory impairment in lower limbs; Distal sensory impairment of the lower extremities; Distal sensory loss; Distal sensory loss, upper and lower limbs; Loss of distal sensation","HPO_Name__c":"Distal sensory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604218","Feature__r":{"HPO_Description__c":"Gliosis is the focal proliferation of glial cells in the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002171","HPO_Synonym__c":"Cerebral gliosis; Excess astrocytes in brain","HPO_Name__c":"Gliosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604218","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002529","HPO_Synonym__c":"Loss of brain cells; Neuronal loss; Neuronal loss in CNS","HPO_Name__c":"Neuronal loss in central nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604218","Feature__r":{"HPO_Description__c":"Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000651","HPO_Synonym__c":"Double vision","HPO_Name__c":"Diplopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604218","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604218","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604218","Feature__r":{"HPO_Description__c":"Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001336","HPO_Synonym__c":"Myoclonic jerks","HPO_Name__c":"Myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604218","Feature__r":{"HPO_Description__c":"Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001298","HPO_Name__c":"Encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604218","Feature__r":{"HPO_Description__c":"Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002059","HPO_Synonym__c":"Degeneration of cerebrum","HPO_Name__c":"Cerebral atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604218","Feature__r":{"HPO_Description__c":"A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002071","HPO_Synonym__c":"Extrapyramidal dysfunction; Extrapyramidal signs; Extrapyramidal symptoms; Extrapyramidal syndrome; Extrapyramidal tract signs","HPO_Name__c":"Abnormality of extrapyramidal motor function","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604218","Feature__r":{"HPO_Description__c":"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000726","HPO_Synonym__c":"Dementia; Dementia, progressive; Progressive dementia","HPO_Name__c":"Dementia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["encephalopathy, familial, with collins bodies"," familial dementia with neuroserpin inclusion bodies"," fenib"]}