{"Name":"Ceroid lipofuscinosis, neuronal, 6A","DiseaseID__c":"GARD:0001224","id":1224,"encodedName":"ceroid-lipofuscinosis-neuronal-6a","IsDeleted":false,"Disease_Name_Full__c":"Ceroid lipofuscinosis, neuronal, 6A","Xref_IDs__c":"C5551375; C566627; DOID:0110729; MEDGEN:1790423; MONDO:0011144; OMIM:601780; ORPHA:228363","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":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011144","Disease_Description__c":"A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.","GARD_Name__c":"Ceroid lipofuscinosis, neuronal, 6A","GARD_Synonym__c":"ceroid lipofuscinosis, neuronal, type 6; cln6; cln6 disease; cln6 late infantile neuronal ceroid lipofuscinosis; cln6-related neuronal ceroid-lipofuscinosis; cln6a; late infantile neuronal ceroid lipofuscinosis caused by mutation in cln6; neuronal ceroid lipofuscinosis 6; neuronal ceroid lipofuscinosis 6 variable age of onset; neuronal ceroid lipofuscinosis type 6; neuronal ceroid lipofuscinosis, gypsy/indian early juvenile variant; neuronal ceroid lipofuscinosis, late infantile, variant; vlincl","Curated_Disease_Description_Source__c":"GARD:0001224","Curated_Disease_Description__c":"CLN6 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between early and late childhood, but sometimes they can appear in adulthood. Most children with CLN6 disease initially experience the loss of previously acquired skills (developmental regression). Affected individuals can also develop recurrent seizures (epilepsy), difficulty coordinating movements (ataxia), muscle twitches (myoclonus), impaired speech (dysarthria), and vision loss. The movement problems worsen over time until affected children cannot walk, stand, or sit without assistance. Intellectual function also declines over time. Most children with CLN6 disease do not survive into adulthood. Some people with CLN6 disease do not show signs or symptoms of the condition until adulthood, typically after age 30. These individuals can have epilepsy, ataxia, dysarthria, and a progressive loss of intellectual function. CLN6 disease usually does not cause vision loss in affected adults. Adults with this condition do not often survive more than 10 years after diagnosis. CLN6 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. All these disorders affect the nervous system and typically cause worsening problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. Each disease type is given the designation \"CLN,\" meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:228363","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011144","ORPHANET_ID__c":"ORPHA:228363","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad cln6","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad cln6","Spanish_GARD_Synonym__c":"lipofuscinosis ceroidea neuronal tipo 6; ncl6","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":"CLN6 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between early and late childhood, but sometimes they can appear in adulthood. Most children with CLN6 disease initially experience the loss of previously acquired skills (developmental regression). Affected individuals can also develop recurrent seizures (epilepsy), difficulty coordinating movements (ataxia), muscle twitches (myoclonus), impaired speech (dysarthria), and vision loss. The movement problems worsen over time until affected children cannot walk, stand, or sit without assistance. Intellectual function also declines over time. Most children with CLN6 disease do not survive into adulthood. Some people with CLN6 disease do not show signs or symptoms of the condition until adulthood, typically after age 30. These individuals can have epilepsy, ataxia, dysarthria, and a progressive loss of intellectual function. CLN6 disease usually does not cause vision loss in affected adults. Adults with this condition do not often survive more than 10 years after diagnosis. CLN6 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. All these disorders affect the nervous system and typically cause worsening problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. Each disease type is given the designation \"CLN,\" meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype.","Curated_Disease_Description_Source__c":"GARD:0001224","GARD_Synonym__c":"ceroid lipofuscinosis, neuronal, type 6; cln6; cln6 disease; cln6 late infantile neuronal ceroid lipofuscinosis; cln6-related neuronal ceroid-lipofuscinosis; cln6a; late infantile neuronal ceroid lipofuscinosis caused by mutation in cln6; neuronal ceroid lipofuscinosis 6; neuronal ceroid lipofuscinosis 6 variable age of onset; neuronal ceroid lipofuscinosis type 6; neuronal ceroid lipofuscinosis, gypsy/indian early juvenile variant; neuronal ceroid lipofuscinosis, late infantile, variant; vlincl","Name":"Ceroid lipofuscinosis, neuronal, 6A","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:228363"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001224","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/228363","Source__c":"C5551375; MONDO:0011144","Xref__c":"ORPHA:228363"},{"URL__c":"https://www.omim.org/entry/601780","Source__c":"C5551375; MONDO:0011144","Xref__c":"OMIM:601780"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110729","Source__c":"MONDO:0011144","Xref__c":"DOID:0110729"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566627","Source__c":"MONDO:0011144","Xref__c":"C566627"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1790423","Source__c":"C5551375","Xref__c":"MEDGEN:1790423"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5551375","Source__c":"C5551375","Xref__c":"C5551375"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011144","Source__c":"GARD:0001224","Xref__c":"MONDO:0011144"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1428","Source__c":"Gene Review","Xref__c":"NBK1428"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CLN6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cln6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601780","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:601780","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:601780","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:601780","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:601780","Feature__r":{"HPO_Description__c":"An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003208","HPO_Synonym__c":"Fingerprint profiles ultrastructurally; Fingerprint profiles ultrastructurally in cells","HPO_Name__c":"Fingerprint intracellular accumulation of autofluorescent lipopigment storage material","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:601780","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:601780","Feature__r":{"HPO_Description__c":"Loss of previously present motor (i.e., movement) abilities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002333","HPO_Synonym__c":"Progressive degeneration of movement","HPO_Name__c":"Motor deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601780","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 6"," cln6"," cln6 disease"," cln6 late infantile neuronal ceroid lipofuscinosis"," cln6-related neuronal ceroid-lipofuscinosis"," cln6a"," late infantile neuronal ceroid lipofuscinosis caused by mutation in cln6"," neuronal ceroid lipofuscinosis 6"," neuronal ceroid lipofuscinosis 6 variable age of onset"," neuronal ceroid lipofuscinosis type 6"," neuronal ceroid lipofuscinosis, gypsy/indian early juvenile variant"," neuronal ceroid lipofuscinosis, late infantile, variant"," vlincl"]}