{"Name":"Progressive myoclonic epilepsy type 3","DiseaseID__c":"GARD:0002167","id":2167,"encodedName":"progressive-myoclonic-epilepsy-type-3","IsDeleted":false,"Disease_Name_Full__c":"Progressive myoclonic epilepsy type 3","Xref_IDs__c":"783064000; C2673257; C567095; DOID:0111446; MEDGEN:388595; MONDO:0012721; OMIM:611726; ORPHA:263516","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012721","Disease_Description__c":"Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene.","GARD_Name__c":"Progressive myoclonic epilepsy type 3","GARD_Synonym__c":"ceroid lipofuscinosis, neuronal, 14; cln14 disease; epilepsy, progressive myoclonic 3, with or without intracellular inclusions; epilepsy, progressive myoclonic, 3, with or without intracellular inclusions; epilepsy, progressive myoclonic, 3, without intracellular inclusions; epm3; kctd7 progressive myoclonic epilepsy; neuronal ceroid lipofuscinosis type 14; pme (progressive myoclonic epilepsy) type 3; pme type 3; progressive myoclonic epilepsy caused by mutation in kctd7; progressive myoclonic epilepsy due to kctd7 deficiency; progressive myoclonus epilepsy type 3","Curated_Disease_Description_Source__c":"MONDO:0012721","Curated_Disease_Description__c":"Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:263516","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012721","ORPHANET_ID__c":"ORPHA:263516","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epilepsia mioclónica progresiva tipo 3","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"epilepsia mioclónica progresiva tipo 3","Spanish_GARD_Synonym__c":"emp tipo 3; epilepsia mioclónica progresiva por deficiencia de kctd7; epilepsia progresiva con mioclonías tipo 3; epm3","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":"Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene.","Curated_Disease_Description_Source__c":"MONDO:0012721","GARD_Synonym__c":"ceroid lipofuscinosis, neuronal, 14; cln14 disease; epilepsy, progressive myoclonic 3, with or without intracellular inclusions; epilepsy, progressive myoclonic, 3, with or without intracellular inclusions; epilepsy, progressive myoclonic, 3, without intracellular inclusions; epm3; kctd7 progressive myoclonic epilepsy; neuronal ceroid lipofuscinosis type 14; pme (progressive myoclonic epilepsy) type 3; pme type 3; progressive myoclonic epilepsy caused by mutation in kctd7; progressive myoclonic epilepsy due to kctd7 deficiency; progressive myoclonus epilepsy type 3","Name":"Progressive myoclonic epilepsy type 3","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Brain Disease Foundation","Website__c":"https://childrensbraindiseasesfoundation.org/"},{"Account_Name__c":"BDSRA Foundation","Website__c":"https://bdsrafoundation.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":"Lysosomal","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Lysosomal storage diseases are a group of genetic metabolic diseases that affect the ability of the body's cells to break down substances and remove toxins.","curated_tag_name":"Lysosomal storage diseases"},{"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":"Childhood","Provided_By__c":"ORPHA:263516"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:263516"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2673257"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002167","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567095","Source__c":"MONDO:0012721","Xref__c":"C567095"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783064000","Source__c":"C2673257; MONDO:0012721","Xref__c":"783064000"},{"URL__c":"https://www.omim.org/entry/611726","Source__c":"C2673257; MONDO:0012721; ORPHA:263516","Xref__c":"OMIM:611726"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=388595","Source__c":"C2673257","Xref__c":"MEDGEN:388595"},{"URL__c":"https://www.orpha.net/en/disease/detail/263516","Source__c":"C2673257; MONDO:0012721; ORPHA:263516","Xref__c":"ORPHA:263516"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2673257","Source__c":"C2673257","Xref__c":"C2673257"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111446","Source__c":"MONDO:0012721","Xref__c":"DOID:0111446"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012721","Source__c":"GARD:0002167","Xref__c":"MONDO:0012721"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1428","Xref__c":"NBK1428"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK619245/","Source__c":"Gene Review","Xref__c":"NBK619245"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KCTD7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:263516","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:263516","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Involuntary and irregular twitches of the chin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012462","HPO_Synonym__c":"Geniospasm","HPO_Name__c":"Chin myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263516","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011185","HPO_Synonym__c":"Focal EEG Abnormality","HPO_Name__c":"EEG with focal epileptiform discharges","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:263516","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of eyesight (visual perception).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000504","HPO_Synonym__c":"Abnormality of sight; Abnormality of vision; Vision issue","HPO_Name__c":"Abnormality of vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263516","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:263516","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002373","HPO_Synonym__c":"Febrile convulsion; Febrile seizures; Fever induced seizures; Seizures, febrile, in early childhood; Seizures, generalized, associated with fever","HPO_Name__c":"Febrile seizure (within the age range of 3 months to 6 years)","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263516","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002073","HPO_Synonym__c":"Cerebellar ataxia, progressive; Progressive ataxia","HPO_Name__c":"Progressive cerebellar ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263516","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263516","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001272","HPO_Synonym__c":"Atrophic cerebellum; Degeneration of cerebellum","HPO_Name__c":"Cerebellar atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263516","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of developmental skills, as manifested by loss of developmental milestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002376","HPO_Synonym__c":"Loss of acquired milestones; Loss of developmental milestones; Loss of milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive","HPO_Name__c":"Developmental regression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263516","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007370","HPO_Synonym__c":"Absent/hypoplastic corpus callosum; Agenesis/hypoplastic corpus callosum; Complete or partial absence of the corpus callosum; Hypoplasia or absence of the corpus callosum; Hypoplastic or absent corpus callosum","HPO_Name__c":"Aplasia/Hypoplasia of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263516","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002069","HPO_Synonym__c":"Bilateral convulsive seizures; Generalised tonic-clonic seizure (without specification of onset); Generalized convulsion; Generalized tonic-clonic seizure (without specification of onset); Grand mal; Grand mal seizures; Seizures, tonic-clonic; Tonic-clonic convulsion; Tonic-clonic convulsions","HPO_Name__c":"Bilateral tonic-clonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263516","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263516","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011188","HPO_Name__c":"Focal EEG discharges with secondary generalization","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:263516","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011166","HPO_Synonym__c":"Focal myoclonic seizures; Local myoclonic seizures; Localised myoclonic seizure; Localized myoclonic seizure; Partial myoclonic seizure; Partial myoclonic seizures; Segmental myoclonic seizure; Segmental myoclonic seizures","HPO_Name__c":"Focal myoclonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263516","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007221","HPO_Name__c":"Progressive truncal ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263516","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:263516","HPO_Frequency__c":"Occasional (5-29%)","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:263516","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263516","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Generalised myoclonic seizure provoked by flashing or flickering light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001327","HPO_Synonym__c":"Photically induced myoclonic seizure; Photomyoclonic seizure; Photomyoclonic seizures","HPO_Name__c":"Photosensitive myoclonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:263516","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:263516","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007272","HPO_Synonym__c":"Progressive mental and motor deterioration","HPO_Name__c":"Progressive psychomotor deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Lysosomal"],"Disease Category":["Genetics","Neurology","Lysosomal"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Lysosomal","Epilepsy"]},"synonyms":["ceroid lipofuscinosis, neuronal, 14"," cln14 disease"," epilepsy, progressive myoclonic 3, with or without intracellular inclusions"," epilepsy, progressive myoclonic, 3, with or without intracellular inclusions"," epilepsy, progressive myoclonic, 3, without intracellular inclusions"," epm3"," kctd7 progressive myoclonic epilepsy"," neuronal ceroid lipofuscinosis type 14"," pme (progressive myoclonic epilepsy) type 3"," pme type 3"," progressive myoclonic epilepsy caused by mutation in kctd7"," progressive myoclonic epilepsy due to kctd7 deficiency"," progressive myoclonus epilepsy type 3"]}