{"Name":"Neuronal ceroid lipofuscinosis 5","DiseaseID__c":"GARD:0001223","id":1223,"encodedName":"neuronal-ceroid-lipofuscinosis-5","IsDeleted":false,"Disease_Name_Full__c":"Neuronal ceroid lipofuscinosis 5","Xref_IDs__c":"C1850442; C192090; C575534; DOID:0110728; MEDGEN:376792; MONDO:0009745; OMIM:256731; ORPHA:228360","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:0009745","Disease_Description__c":"Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 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 cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 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":"Neuronal ceroid lipofuscinosis 5","GARD_Synonym__c":"ceroid lipofuscinosis, neuronal, 5, variable age at onset; ceroid lipofuscinosis, neuronal, type 5; cln5; cln5 disease; cln5 neuronal ceroid lipofuscinosis; cln5-related neuronal ceroid-lipofuscinosis; neuronal ceroid lipofuscinosis 5 variable age of onset; neuronal ceroid lipofuscinosis caused by mutation in cln5; neuronal ceroid lipofuscinosis finnish variant; neuronal ceroid lipofuscinosis type 5; neuronal ceroid lipofuscinosis, late infantile, finnish variant","Curated_Disease_Description_Source__c":"GARD:0001223","Curated_Disease_Description__c":"Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes in the CLN5 gene and is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:228360","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009745","ORPHANET_ID__c":"ORPHA:228360","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad cln5","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad cln5","Spanish_GARD_Synonym__c":"lipofuscinosis ceroidea neuronal tipo 5; ncl5","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 5 (CLN5-NCL) is a rare condition that affects the nervous system. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes in the CLN5 gene and is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0001223","GARD_Synonym__c":"ceroid lipofuscinosis, neuronal, 5, variable age at onset; ceroid lipofuscinosis, neuronal, type 5; cln5; cln5 disease; cln5 neuronal ceroid lipofuscinosis; cln5-related neuronal ceroid-lipofuscinosis; neuronal ceroid lipofuscinosis 5 variable age of onset; neuronal ceroid lipofuscinosis caused by mutation in cln5; neuronal ceroid lipofuscinosis finnish variant; neuronal ceroid lipofuscinosis type 5; neuronal ceroid lipofuscinosis, late infantile, finnish variant","Name":"Neuronal ceroid lipofuscinosis 5","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:228360"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001223","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C575534","Source__c":"MONDO:0009745","Xref__c":"C575534"},{"URL__c":"https://www.omim.org/entry/256731","Source__c":"C1850442; MONDO:0009745; ORPHA:228360","Xref__c":"OMIM:256731"},{"URL__c":"https://www.orpha.net/en/disease/detail/228360","Source__c":"C1850442; MONDO:0009745; ORPHA:228360","Xref__c":"ORPHA:228360"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1850442","Source__c":"C1850442","Xref__c":"C1850442"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=376792","Source__c":"C1850442","Xref__c":"MEDGEN:376792"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110728","Source__c":"MONDO:0009745","Xref__c":"DOID:0110728"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009745","Source__c":"GARD:0001223","Xref__c":"MONDO:0009745"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1428","Source__c":"Gene Review","Xref__c":"NBK1428"},{"URL__c":"https://medlineplus.gov/genetics/condition/cln5-disease","Source__c":"GARD:0001223","Xref__c":"https://medlineplus.gov/genetics/condition/cln5-disease"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C192090","Source__c":"C1850442","Xref__c":"C192090"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CLN5","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cln5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:256731","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:256731","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:256731","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:256731","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:256731","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":"OMIM:256731","Feature__r":{"HPO_Description__c":"An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003226","HPO_Synonym__c":"Rectilinear profiles ultrastructurally","HPO_Name__c":"Rectilinear intracellular accumulation of autofluorescent lipopigment storage material","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:256731","HPO_Frequency__c":"Occasional (5-29%)","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:256731","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:256731","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:256731","HPO_Frequency__c":"Very frequent (80-99%)","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:256731","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:256731","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inability to walk in a person who previous had the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002505","HPO_Synonym__c":"Loss of ability to walk","HPO_Name__c":"Loss of ambulation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256731","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:256731","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002075","HPO_Synonym__c":"Difficulty performing quick and alternating movements; Dysdiadochokinesia","HPO_Name__c":"Dysdiadochokinesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256731","HPO_Frequency__c":"Very frequent (80-99%)","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:256731","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy of the cortex of the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002120","HPO_Synonym__c":"Cerebral cortex atrophy; Cortical atrophy; Decrease in size of the outer layer of the brain due to loss of brain cells","HPO_Name__c":"Cerebral cortical atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256731","HPO_Frequency__c":"Occasional (5-29%)","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:256731","Feature__r":{"HPO_Description__c":"Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002312","HPO_Synonym__c":"Clumsiness","HPO_Name__c":"Clumsiness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256731","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200085","HPO_Synonym__c":"Involuntary shaking of limb; Limb tremor","HPO_Name__c":"Limb tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256731","HPO_Frequency__c":"Very frequent (80-99%)","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:256731","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001310","HPO_Synonym__c":"Lack of coordination of movement","HPO_Name__c":"Dysmetria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:256731","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"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, 5, variable age at onset"," ceroid lipofuscinosis, neuronal, type 5"," cln5"," cln5 disease"," cln5 neuronal ceroid lipofuscinosis"," cln5-related neuronal ceroid-lipofuscinosis"," neuronal ceroid lipofuscinosis 5 variable age of onset"," neuronal ceroid lipofuscinosis caused by mutation in cln5"," neuronal ceroid lipofuscinosis finnish variant"," neuronal ceroid lipofuscinosis type 5"," neuronal ceroid lipofuscinosis, late infantile, finnish variant"]}