{"Name":"Ceroid lipofuscinosis, neuronal, 4 (Kufs type)","DiseaseID__c":"GARD:0001222","id":1222,"encodedName":"ceroid-lipofuscinosis-neuronal-4-kufs-type","IsDeleted":false,"Disease_Name_Full__c":"Ceroid lipofuscinosis, neuronal, 4 (Kufs type)","Xref_IDs__c":"C128116; C1834207; DOID:0110720; MEDGEN:320287; MONDO:0008083; OMIM:162350; ORPHA:228343","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":6,"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:0008083","Disease_Description__c":"A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.","GARD_Name__c":"Ceroid lipofuscinosis, neuronal, 4 (Kufs type)","GARD_Synonym__c":"autosomal dominant kufs disease; autosomal dominant neuronal ceroid lipofuscinosis 4b; ceroid lipofuscinosis, neuronal, 4 (kufs type), autosomal dominant; ceroid lipofuscinosis, neuronal, 4, parry type; cln4; cln4b disease; neuronal ceroid lipofuscinosis 4 parry type; neuronal ceroid lipofuscinosis 4b; neuronal ceroid lipofuscinosis type 4b; neuronal ceroid lipofuscinosis, parry type","Curated_Disease_Description_Source__c":"GARD:0001222","Curated_Disease_Description__c":"CLN4 disease is a condition that primarily affects the nervous system, causing problems with movement and intellectual function that worsen over time. The signs and symptoms of CLN4 disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood. People with CLN4 disease often develop seizures and uncontrollable muscle jerks (myoclonic epilepsy), a decline in intellectual function (dementia), problems with coordination and balance (ataxia), tremors or other involuntary movements (motor tics), and speech difficulties (dysarthria). The signs and symptoms of CLN4 disease worsen over time, and affected individuals usually survive about 15 years after the disorder begins. CLN4 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. (The adult forms of NCLs, which includes CLN4 disease, are sometimes known as Kufs disease.) All the NCLs 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 Adult","SourceID__c":"ORPHA:228343","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008083","ORPHANET_ID__c":"ORPHA:228343","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad cln4","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad cln4","Spanish_GARD_Synonym__c":"lipofuscinosis ceroidea neuronal tipo 4; ncl4","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":"CLN4 disease is a condition that primarily affects the nervous system, causing problems with movement and intellectual function that worsen over time. The signs and symptoms of CLN4 disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood. People with CLN4 disease often develop seizures and uncontrollable muscle jerks (myoclonic epilepsy), a decline in intellectual function (dementia), problems with coordination and balance (ataxia), tremors or other involuntary movements (motor tics), and speech difficulties (dysarthria). The signs and symptoms of CLN4 disease worsen over time, and affected individuals usually survive about 15 years after the disorder begins. CLN4 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. (The adult forms of NCLs, which includes CLN4 disease, are sometimes known as Kufs disease.) All the NCLs 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:0001222","GARD_Synonym__c":"autosomal dominant kufs disease; autosomal dominant neuronal ceroid lipofuscinosis 4b; ceroid lipofuscinosis, neuronal, 4 (kufs type), autosomal dominant; ceroid lipofuscinosis, neuronal, 4, parry type; cln4; cln4b disease; neuronal ceroid lipofuscinosis 4 parry type; neuronal ceroid lipofuscinosis 4b; neuronal ceroid lipofuscinosis type 4b; neuronal ceroid lipofuscinosis, parry type","Name":"Ceroid lipofuscinosis, neuronal, 4 (Kufs type)","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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:228343"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1834207"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001222","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/228343","Source__c":"C1834207; MONDO:0008083; ORPHA:228343","Xref__c":"ORPHA:228343"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1834207","Source__c":"C1834207","Xref__c":"C1834207"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110720","Source__c":"MONDO:0008083","Xref__c":"DOID:0110720"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C128116","Source__c":"MONDO:0008083","Xref__c":"C128116"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=320287","Source__c":"C1834207","Xref__c":"MEDGEN:320287"},{"URL__c":"https://www.omim.org/entry/162350","Source__c":"C1834207; MONDO:0008083; ORPHA:228343","Xref__c":"OMIM:162350"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008083","Source__c":"GARD:0001222","Xref__c":"MONDO:0008083"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1428","Source__c":"Gene Review","Xref__c":"NBK1428"},{"URL__c":"https://medlineplus.gov/genetics/condition/cln4-disease","Source__c":"GARD:0001222","Xref__c":"https://medlineplus.gov/genetics/condition/cln4-disease"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DNAJC5","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dnajc5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:162350","Feature__r":{"HPO_Description__c":"Perception of sounds without auditory stimulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008765","HPO_Synonym__c":"Hallucinations of sound; Hearing sounds","HPO_Name__c":"Auditory hallucination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162350","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:162350","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:162350","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:162350","Feature__r":{"HPO_Description__c":"Visual perception in the absence of a visual stimulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002367","HPO_Synonym__c":"Visual hallucinations","HPO_Name__c":"Visual hallucination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162350","Feature__r":{"HPO_Description__c":"Any structural abnormality of the cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001317","HPO_Synonym__c":"Abnormality of the cerebellum; Cerebellar abnormalities; Cerebellar abnormality; Cerebellar anomaly; Cerebellar signs","HPO_Name__c":"Abnormal cerebellum morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162350","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:162350","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:162350","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162350","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:162350","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003657","HPO_Synonym__c":"Granular osmiophilic deposits (GROD) in cells","HPO_Name__c":"Vascular granular osmiophilic material deposition","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162350","Feature__r":{"HPO_Description__c":"Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001300","HPO_Name__c":"Parkinsonism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162350","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:162350","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:162350","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles 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:0032794","HPO_Name__c":"Myoclonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:162350","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:162350","HPO_Frequency__c":"Very frequent (80-99%)","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","Inborn Errors of Metabolism","Lysosomal"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Lysosomal"],"Specialist":["Genetics","Neurology","Ophthalmology","Psychiatry","Retinal","Epilepsy"],"Account":["Lysosomal","Retinal","Epilepsy"]},"synonyms":["autosomal dominant kufs disease"," autosomal dominant neuronal ceroid lipofuscinosis 4b"," ceroid lipofuscinosis, neuronal, 4 (kufs type), autosomal dominant"," ceroid lipofuscinosis, neuronal, 4, parry type"," cln4"," cln4b disease"," neuronal ceroid lipofuscinosis 4 parry type"," neuronal ceroid lipofuscinosis 4b"," neuronal ceroid lipofuscinosis type 4b"," neuronal ceroid lipofuscinosis, parry type"]}