{"Name":"Cathepsin a-related arteriopathy-strokes-leukoencephalopathy","DiseaseID__c":"GARD:0022320","id":22320,"encodedName":"cathepsin-a-related-arteriopathy-strokes-leukoencephalopathy","IsDeleted":false,"Disease_Name_Full__c":"Cathepsin a-related arteriopathy-strokes-leukoencephalopathy","Xref_IDs__c":"C5680354; MEDGEN:1804103; MONDO:0035551; OMIM:621394; ORPHA:575553","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0035551","Disease_Description__c":"A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.","GARD_Name__c":"Cathepsin a-related arteriopathy-strokes-leukoencephalopathy","GARD_Synonym__c":"carasal; carasal - cathepsin a-related arteriopathy, strokes, leukoencephalopathy; cathepsin a-related arteriopathy, strokes, leukoencephalopathy","Curated_Disease_Description_Source__c":"MONDO:0035551","Curated_Disease_Description__c":"A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:575553","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0035551","ORPHANET_ID__c":"ORPHA:575553","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Arteriopatía-derrames cerebrales-leucoencefalopatía asociada a catepsina a","Spanish_Description_Source__c":"ORPHA:575553","Spanish_Description__c":"Es una enfermedad cerebral de pequeños vasos, de origen genético y poco frecuente, caracterizada por microangiopatía primaria de inicio en el adulto con aterosclerosis grave de las arteriolas y leucoencefalopatía secundaria. Los pacientes pueden presentarse con migraña, ataques isquémicos transitorios, accidente cerebrovascular con parálisis facial central, disfunción cognitiva con afectación de la concentración, demencia, depresión, trastornos del movimiento, vértigo, disfagia, disartria, síndrome de Sicca, trastornos del sueño REM e hipertensión refractaria al tratamiento, entre otros. Por lo general, la RM cerebral muestra una leucoencefalopatía desproporcionadamente grave y extensa en comparación con la enfermedad clínica.","Spanish_Disease_Name__c":"arteriopatía-derrames cerebrales-leucoencefalopatía asociada a catepsina a","Spanish_GARD_Synonym__c":"carasal","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":"A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.","Curated_Disease_Description_Source__c":"MONDO:0035551","GARD_Synonym__c":"carasal; carasal - cathepsin a-related arteriopathy, strokes, leukoencephalopathy; cathepsin a-related arteriopathy, strokes, leukoencephalopathy","Name":"Cathepsin a-related arteriopathy-strokes-leukoencephalopathy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alex The Leukodystrophy Charity","Website__c":"https://www.alextlc.org"},{"Account_Name__c":"United Leukodystrophy Foundation","Website__c":"https://ulf.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":"Psychiatry","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Vascular Neurology","Tag_Category__c":"Specialist","curated_tag_name":"Vascular neurology"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:575553"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680354","Source__c":"C5680354","Xref__c":"C5680354"},{"URL__c":"https://www.orpha.net/en/disease/detail/575553","Source__c":"C5680354; MONDO:0035551; ORPHA:575553","Xref__c":"ORPHA:575553"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1804103","Source__c":"C5680354","Xref__c":"MEDGEN:1804103"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197429000","Source__c":"C5680354","Xref__c":"1197429000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0035551","Source__c":"GARD:0022320","Xref__c":"MONDO:0035551"},{"URL__c":"https://www.omim.org/entry/621394","Source__c":"ORPHA:575553","Xref__c":"OMIM:621394"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CTSA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ctsa","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:621394","HPO_Frequency__c":"Very frequent (80-99%)","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:621394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of any part of the lung parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002090","HPO_Synonym__c":"Pneumonia","HPO_Name__c":"Pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:621394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:621394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030892","HPO_Synonym__c":"DWMH","HPO_Name__c":"Deep cerebral white matter hyperintensities","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"OMIM:621394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001278","HPO_Synonym__c":"Decrease in blood pressure upon standing up; Postural hypotension","HPO_Name__c":"Orthostatic hypotension","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:621394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001279","HPO_Synonym__c":"Fainting spell","HPO_Name__c":"Syncope","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:621394","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:621394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025722","HPO_Name__c":"Cerebral infarct","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:621394","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:621394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase (delay) in the conduction time of the brainstem auditory-evoked response.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004466","HPO_Name__c":"Delayed brainstem auditory evoked response conduction time","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:621394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:621394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decrease in the ability to perceive vibration in the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002166","HPO_Synonym__c":"Decreased lower limb vibratory sense; Decreased vibratory sense in lower limbs; Decreased vibratory sense in the lower extremities; Decreased vibratory sense in the lower limbs; Diminished vibratory sensation in the legs; Distal sensory loss, especially vibratory sense; Distal vibratory impairment of the lower limbs; Impaired vibration sensation in the lower limbs","HPO_Name__c":"Impaired vibration sensation in the lower limbs","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:621394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002136","HPO_Synonym__c":"Broad based gait; Wide based gait; Wide based walk; Wide-based gait","HPO_Name__c":"Broad-based gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:621394","HPO_Frequency__c":"Very frequent (80-99%)","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:621394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002076","HPO_Synonym__c":"Intermittent migraine headaches; Migraine; Migraine headache; Migraine headaches","HPO_Name__c":"Migraine","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:621394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002354","HPO_Synonym__c":"Amnesia; Forgetfulness; Memory impairment; Memory loss; Memory problems; Poor memory","HPO_Name__c":"Memory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:621394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:621394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000571","HPO_Name__c":"Hypometric saccades","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:621394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000360","HPO_Synonym__c":"Ringing in ears; Ringing in the ears","HPO_Name__c":"Tinnitus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:621394","HPO_Frequency__c":"Very frequent (80-99%)","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:621394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002066","HPO_Synonym__c":"Ataxia of gait; Ataxic gait; Inability to coordinate movements when walking","HPO_Name__c":"Gait ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:621394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033051","HPO_Name__c":"Impaired executive functioning","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:621394","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:621394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003438","HPO_Synonym__c":"Absent ankle reflexes","HPO_Name__c":"Absent Achilles reflex","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry","Vascular Neurology","Vascular Medicine"]},"synonyms":["carasal"," carasal - cathepsin a-related arteriopathy, strokes, leukoencephalopathy"," cathepsin a-related arteriopathy, strokes, leukoencephalopathy"]}