{"Name":"Neuronal ceroid lipofuscinosis 2","DiseaseID__c":"GARD:0003045","id":3045,"encodedName":"neuronal-ceroid-lipofuscinosis-2","IsDeleted":false,"Disease_Name_Full__c":"Neuronal ceroid lipofuscinosis 2","Xref_IDs__c":"C1876161; C85864; DOID:0110726; MEDGEN:406281; MONDO:0008769; OMIM:204500; ORPHA:228349","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008769","Disease_Description__c":"A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.","GARD_Name__c":"Neuronal ceroid lipofuscinosis 2","GARD_Synonym__c":"ceroid lipofuscinosis, neuronal, type 2; classic late infantile ncl; classic late infantile neuronal ceroid lipofuscinosis; cln2; cln2 disease; jansky-bielschowsky disease neuronal ceroid lipofuscinosis, late infantile; neuronal ceroid lipofuscinosis 2 variable age at onset; neuronal ceroid lipofuscinosis caused by mutation in tpp1; neuronal ceroid lipofuscinosis type 2; tpp1 neuronal ceroid lipofuscinosis; tpp1-related neuronal ceroid-lipofuscinosis","Curated_Disease_Description_Source__c":"GARD:0003045","Curated_Disease_Description__c":"Neuronal ceroid lipofuscinosis 2 (CLN2) is a type of neuronal ceroid lipofuscinosis (NCL), a group of severe diseases that affect the nervous system. Children with CLN2 may experience speech delay, seizures that do not respond to medications, loss of muscle coordination (ataxia), muscle twitches (myoclonus), loss of vision, developmental delay, and intellectual disability. CLN2 is caused by changes (pathogenic variations) in the TPP1 gene and is inherited in an autosomal recessive manner. All types of NCL also belong to a larger group of diseases known as lysosomal storage disorders.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:228349","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008769","ORPHANET_ID__c":"ORPHA:228349","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad cln2","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad cln2","Spanish_GARD_Synonym__c":"lipofuscinosis ceroidea neuronal tipo 2; ncl2","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":"Neuronal ceroid lipofuscinosis 2 (CLN2) is a type of neuronal ceroid lipofuscinosis (NCL), a group of severe diseases that affect the nervous system. Children with CLN2 may experience speech delay, seizures that do not respond to medications, loss of muscle coordination (ataxia), muscle twitches (myoclonus), loss of vision, developmental delay, and intellectual disability. CLN2 is caused by changes (pathogenic variations) in the TPP1 gene and is inherited in an autosomal recessive manner. All types of NCL also belong to a larger group of diseases known as lysosomal storage disorders.","Curated_Disease_Description_Source__c":"GARD:0003045","GARD_Synonym__c":"ceroid lipofuscinosis, neuronal, type 2; classic late infantile ncl; classic late infantile neuronal ceroid lipofuscinosis; cln2; cln2 disease; jansky-bielschowsky disease neuronal ceroid lipofuscinosis, late infantile; neuronal ceroid lipofuscinosis 2 variable age at onset; neuronal ceroid lipofuscinosis caused by mutation in tpp1; neuronal ceroid lipofuscinosis type 2; tpp1 neuronal ceroid lipofuscinosis; tpp1-related neuronal ceroid-lipofuscinosis","Name":"Neuronal ceroid lipofuscinosis 2","estimateUsa":""}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Psychiatry","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic 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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"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":"Infancy","Provided_By__c":"ORPHA:228349"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003045","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110726","Source__c":"MONDO:0008769","Xref__c":"DOID:0110726"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85864","Source__c":"C1876161; MONDO:0008769","Xref__c":"C85864"},{"URL__c":"https://www.orpha.net/en/disease/detail/228349","Source__c":"C1876161; MONDO:0008769","Xref__c":"ORPHA:228349"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=406281","Source__c":"C1876161","Xref__c":"MEDGEN:406281"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1876161","Source__c":"C1876161","Xref__c":"C1876161"},{"URL__c":"https://www.omim.org/entry/204500","Source__c":"C1876161; MONDO:0008769; ORPHA:228349","Xref__c":"OMIM:204500"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008769","Source__c":"GARD:0003045","Xref__c":"MONDO:0008769"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1428","Source__c":"Gene Review","Xref__c":"NBK1428"},{"URL__c":"https://medlineplus.gov/genetics/condition/cln2-disease","Source__c":"GARD:0003045","Xref__c":"https://medlineplus.gov/genetics/condition/cln2-disease"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TPP1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tpp1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:204500","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:204500","Feature__r":{"HPO_Description__c":"Lack of any response to stimulation upon electroretinography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000550","HPO_Synonym__c":"Abolished electroretinogram; Absent electroretinogram; Extinction of electroretinogram; Extinguished electroretinogram; No light-evoked response on electroretinogram; Undetectable ERG","HPO_Name__c":"Undetectable electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:204500","Feature__r":{"HPO_Description__c":"A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000546","HPO_Synonym__c":"Retina degeneration","HPO_Name__c":"Retinal degeneration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:204500","Feature__r":{"HPO_Description__c":"An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003205","HPO_Synonym__c":"Curvilinear profiles ultrastructurally; Curvilinear profiles ultrastructurally in cells; Intracellular curvilinear profiles on ultrastructural analysis","HPO_Name__c":"Curvilinear intracellular accumulation of autofluorescent lipopigment storage material","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:204500","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":"OMIM:204500","Feature__r":{"HPO_Description__c":"A reduction of previously attained ability to see.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000529","HPO_Synonym__c":"Loss of visual acuity; Progressive loss of vision; Progressive vision loss; Progressive visual acuity loss; Progressive visual impairment; Slowly progressive visual loss; Vision loss, progressive; Visual loss, progressive","HPO_Name__c":"Progressive visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:204500","Feature__r":{"HPO_Description__c":"Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002074","HPO_Name__c":"Increased neuronal autofluorescent lipopigment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:204500","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:204500","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:204500","Feature__r":{"HPO_Description__c":"Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003463","HPO_Name__c":"Increased extraneuronal autofluorescent lipopigment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:204500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Activity of tripeptidyl peptidase 1 (TPP1;EC 3.4.14.9) in the tissues below the lower limit of normal. TTP1 activity can be measured in tissues including fibroblasts and leukocytes muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000571","HPO_Synonym__c":"Reduced leukocyte tripeptidyl peptidase 1 activity; Reduced tripeptidyl peptidase 1 activity in cultured fibroblasts","HPO_Name__c":"Reduced tissue tripeptidyl peptidase 1 activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:204500","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:204500","Feature__r":{"HPO_Description__c":"An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001311","HPO_Synonym__c":"Neurophysiologic abnormalities; Neurophysiologic abnormality","HPO_Name__c":"Abnormal nervous system electrophysiology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:204500","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Lysosomal"],"Specialist":["Genetics","Neurology","Ophthalmology","Psychiatry","Retinal","Epilepsy","Pediatrics"],"Account":["Lysosomal","Retinal","Epilepsy"]},"synonyms":["ceroid lipofuscinosis, neuronal, type 2"," classic late infantile ncl"," classic late infantile neuronal ceroid lipofuscinosis"," cln2"," cln2 disease"," jansky-bielschowsky disease neuronal ceroid lipofuscinosis, late infantile"," neuronal ceroid lipofuscinosis 2 variable age at onset"," neuronal ceroid lipofuscinosis caused by mutation in tpp1"," neuronal ceroid lipofuscinosis type 2"," tpp1 neuronal ceroid lipofuscinosis"," tpp1-related neuronal ceroid-lipofuscinosis"]}