{"Name":"Microangiopathy and leukoencephalopathy, pontine, autosomal dominant","DiseaseID__c":"GARD:0017855","id":17855,"encodedName":"microangiopathy-and-leukoencephalopathy-pontine-autosomal-dominant","IsDeleted":false,"Disease_Name_Full__c":"Microangiopathy and leukoencephalopathy, pontine, autosomal dominant","Xref_IDs__c":"C5231411; MEDGEN:1684781; MONDO:0032814; OMIM:618564; ORPHA:477749","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:477749","Disease_Description__c":"A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres.","GARD_Name__c":"Microangiopathy and leukoencephalopathy, pontine, autosomal dominant","GARD_Synonym__c":"dementia, hereditary multi-infarct, swedish type; padmal; padmal - pontine autosomal dominant microangiopathy with leukoencephalopathy; pontine autosomal dominant microangiopathy with leukoencephalopathy","Curated_Disease_Description_Source__c":"ORPHA:477749","Curated_Disease_Description__c":"A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:477749","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0032814","ORPHANET_ID__c":"ORPHA:477749","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Microangiopatía pontina autosómica dominante con leucoencefalopatía","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"microangiopatía pontina autosómica dominante con leucoencefalopatía","Spanish_GARD_Synonym__c":"padmal","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 recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres.","Curated_Disease_Description_Source__c":"ORPHA:477749","GARD_Synonym__c":"dementia, hereditary multi-infarct, swedish type; padmal; padmal - pontine autosomal dominant microangiopathy with leukoencephalopathy; pontine autosomal dominant microangiopathy with leukoencephalopathy","Name":"Microangiopathy and leukoencephalopathy, pontine, autosomal dominant","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"COL4A1-A2 Family Association","Website__c":"https://www.col4a1.net/"}],"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":"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:477749"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/618564","Source__c":"C5231411; MONDO:0032814; ORPHA:477749","Xref__c":"OMIM:618564"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1684781","Source__c":"C5231411","Xref__c":"MEDGEN:1684781"},{"URL__c":"https://www.orpha.net/en/disease/detail/477749","Source__c":"MONDO:0032814","Xref__c":"ORPHA:477749"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5231411","Source__c":"C5231411","Xref__c":"C5231411"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0032814","Source__c":"GARD:0017855","Xref__c":"MONDO:0032814"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1173997008","Source__c":"C5231411","Xref__c":"1173997008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK7046","Xref__c":"NBK7046"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL4A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col4a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:618564","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"OMIM:618564","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030890","HPO_Synonym__c":"White matter hyperintensity","HPO_Name__c":"Hyperintensity of cerebral white matter on MRI","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"OMIM:618564","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002172","HPO_Synonym__c":"Balance impairment","HPO_Name__c":"Postural instability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618564","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Vascular Neurology","Vascular Medicine"]},"synonyms":["dementia, hereditary multi-infarct, swedish type"," padmal"," padmal - pontine autosomal dominant microangiopathy with leukoencephalopathy"," pontine autosomal dominant microangiopathy with leukoencephalopathy"]}