{"Name":"Leukoencephalopathy with calcifications and cysts","DiseaseID__c":"GARD:0010732","id":10732,"encodedName":"leukoencephalopathy-with-calcifications-and-cysts","IsDeleted":false,"Disease_Name_Full__c":"Leukoencephalopathy with calcifications and cysts","Xref_IDs__c":"1186710001; C000598644; C3281200; MEDGEN:482830; MONDO:0013803; OMIM:614561; ORPHA:542310","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"ORPHA:542310","Disease_Description__c":"A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features.","GARD_Name__c":"Leukoencephalopathy with calcifications and cysts","GARD_Synonym__c":"labrune syndrome; lcc; leukoencephalopathy, brain calcifications, and cysts","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Leukoencephalopathy with calcifications and cysts is a rare genetic disease that affects the small blood vessels in the brain. It is characterized by damage to brain tissue (specifically white matter), calcium build up in brain tissue (cerbral calcifcation), and fluid-filled sacs within brain tissue (cerbral cysts). The cerebral cysts may be small (microcystic) or large (macrocystic). The disease can affect people of any age and gets worse over time. Symptoms can vary, but all involve problems with the nervous system, such as difficulty thinking and seizures. Additionally problems with movement may present such as difficulty with coordination (pyramidial feature), muscle stiffness (extrapyramidal feature), and difficulty with balance (cerbellum feature).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:542310","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013803","ORPHANET_ID__c":"ORPHA:542310","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Leucoencefalopatía con calcificaciones y quistes","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"leucoencefalopatía con calcificaciones y quistes","Spanish_GARD_Synonym__c":"lcc; síndrome de labrune","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":"Leukoencephalopathy with calcifications and cysts is a rare genetic disease that affects the small blood vessels in the brain. It is characterized by damage to brain tissue (specifically white matter), calcium build up in brain tissue (cerbral calcifcation), and fluid-filled sacs within brain tissue (cerbral cysts). The cerebral cysts may be small (microcystic) or large (macrocystic). The disease can affect people of any age and gets worse over time. Symptoms can vary, but all involve problems with the nervous system, such as difficulty thinking and seizures. Additionally problems with movement may present such as difficulty with coordination (pyramidial feature), muscle stiffness (extrapyramidal feature), and difficulty with balance (cerbellum feature).","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"labrune syndrome; lcc; leukoencephalopathy, brain calcifications, and cysts","Name":"Leukoencephalopathy with calcifications and cysts","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The LCC Foundation","Website__c":"https://www.thelccfoundation.org"},{"Account_Name__c":"Childhood Dementia Initiative","Website__c":"https://www.childhooddementia.org/"},{"Account_Name__c":"Alex The Leukodystrophy Charity","Website__c":"https://www.alextlc.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:542310"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:542310"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:542310"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:542310"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010732","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=482830","Source__c":"C3281200","Xref__c":"MEDGEN:482830"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000598644","Source__c":"MONDO:0013803","Xref__c":"C000598644"},{"URL__c":"https://www.orpha.net/en/disease/detail/542310","Source__c":"C3281200; MONDO:0013803; ORPHA:542310","Xref__c":"ORPHA:542310"},{"URL__c":"https://www.omim.org/entry/614561","Source__c":"C3281200; MONDO:0013803; ORPHA:542310","Xref__c":"OMIM:614561"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3281200","Source__c":"C3281200","Xref__c":"C3281200"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1186710001","Source__c":"C3281200","Xref__c":"1186710001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013803","Source__c":"GARD:0010732","Xref__c":"MONDO:0013803"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SNORD118","Gene_Type__c":"non-coding RNA","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:542310","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cystic lesion originating within the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010576","HPO_Synonym__c":"Cerebral cystic malformation","HPO_Name__c":"Intracranial cystic lesion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:542310","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100320","HPO_Name__c":"Rosenthal fibers","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:542310","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:542310","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of previously present mental abilities, generally in adults.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001268","HPO_Synonym__c":"Cognitive decline; Cognitive decline, progressive; Intellectual deterioration; Mental deterioration; Progressive cognitive decline","HPO_Name__c":"Mental deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:542310","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007291","HPO_Name__c":"Posterior fossa cyst","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:542310","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":"ORPHA:542310","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007346","HPO_Name__c":"Subcortical white matter calcifications","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:542310","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007229","HPO_Name__c":"Intracerebral periventricular calcifications","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:542310","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000712","HPO_Name__c":"Emotional lability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:542310","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001297","HPO_Synonym__c":"Cerebral vascular events; Cerebrovascular accident; Stroke","HPO_Name__c":"Stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:542310","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage into the parenchyma of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001342","HPO_Synonym__c":"Bleeding in brain; Intracerebral hemorrhage","HPO_Name__c":"Cerebral hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:542310","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of calcium deposition affecting one or more structures of the basal ganglia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002135","HPO_Synonym__c":"Basal ganglia calcifications; Basal ganglion calcification; Calcification of the basal ganglia","HPO_Name__c":"Basal ganglia calcification","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:542310","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. These episodes are hallmark features of psychotic disorders such as schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000725","HPO_Synonym__c":"Psychotic episodes","HPO_Name__c":"Psychotic episodes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:542310","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:542310","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:542310","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pathological deposition of calcium salts in the dentate nucleus of the cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002461","HPO_Name__c":"Cerebellar dentate nucleus calcification","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:542310","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:542310","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:542310","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:542310","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of calcium deposition within the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002514","HPO_Synonym__c":"Abnormal deposits of calcium in the brain","HPO_Name__c":"Cerebral calcification","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:542310","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:542310","HPO_Frequency__c":"Excluded (0%)","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:542310","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Functional neurological abnormalities related to dysfunction of the pyramidal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007256","HPO_Synonym__c":"Corticospinal signs; Pyramidal signs; Pyramidal tract signs","HPO_Name__c":"Abnormal pyramidal sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:542310","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:542310","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011153","HPO_Synonym__c":"Focal motor seizures; Localized motor seizure; Localized motor seizures; Partial motor seizure; Partial motor seizures; Segmental motor seizure","HPO_Name__c":"Focal motor seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:542310","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002352","HPO_Name__c":"Leukoencephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:542310","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002516","HPO_Synonym__c":"Intracranial hypertension; Intracranial pressure elevation; Rise in pressure inside skull","HPO_Name__c":"Increased intracranial pressure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["labrune syndrome"," lcc"," leukoencephalopathy, brain calcifications, and cysts"]}