{"Name":"Moyamoya disease","DiseaseID__c":"GARD:0007064","id":7064,"encodedName":"moyamoya-disease","IsDeleted":false,"Disease_Name_Full__c":"Moyamoya disease","Xref_IDs__c":"69116000; 89142007; C0026654; C84895; D009072; DOID:13099; I67.5; MEDGEN:7726; MONDO:0016820; OMIMPS:252350; ORPHA:2573","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016820","Disease_Description__c":"Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.","GARD_Name__c":"Moyamoya disease","GARD_Synonym__c":"idiopathic moyamoya disease; moyamoya syndrome; progressive intracranial arterial occlusion","Curated_Disease_Description_Source__c":"GARD:0007064","Curated_Disease_Description__c":"Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them. These vessels, which provide oxygen-rich blood to the brain, narrow over time. Narrowing of these vessels reduces blood flow in the brain. In an attempt to compensate, new networks of small, fragile blood vessels form. These networks, visualized by a particular test called an angiogram, resemble puffs of smoke, which is how the condition got its name: 'moyamoya' is an expression meaning 'something hazy like a puff of smoke' in Japanese. Moyamoya disease commonly begins either around age 5 or in a person's thirties or forties. A lack of blood supply to the brain leads to several symptoms of the disorder, including temporary stroke-like episodes (transient ischemic attacks), strokes, and seizures. In addition, the fragile blood vessels that grow can develop bulges (aneurysms), or they can break open, leading to bleeding (hemorrhage) in the brain. Affected individuals may develop recurrent headaches, involuntary jerking movements (chorea), or a decline in thinking ability. The symptoms of moyamoya disease often worsen over time if the condition is not treated. Some people have the blood vessel changes characteristic of moyamoya disease in addition to features of another disorder, such as neurofibromatosis type 1, sickle cell disease, or Graves' disease. These individuals are said to have moyamoya syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:2573","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016820","ORPHANET_ID__c":"ORPHA:2573","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de moyamoya","Spanish_Description_Source__c":"ORPHA:2573","Spanish_Description__c":"Es una arteriopatía intracraneal poco frecuente que causa estenosis progresiva de la vasculatura localizada en la base cerebral, ocasionando accidentes isquémicos transitorios o cerebrovasculares.","Spanish_Disease_Name__c":"enfermedad de moyamoya","Spanish_GARD_Synonym__c":"enfermedad de moyamoya idiopática","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":"Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them. These vessels, which provide oxygen-rich blood to the brain, narrow over time. Narrowing of these vessels reduces blood flow in the brain. In an attempt to compensate, new networks of small, fragile blood vessels form. These networks, visualized by a particular test called an angiogram, resemble puffs of smoke, which is how the condition got its name: 'moyamoya' is an expression meaning 'something hazy like a puff of smoke' in Japanese. Moyamoya disease commonly begins either around age 5 or in a person's thirties or forties. A lack of blood supply to the brain leads to several symptoms of the disorder, including temporary stroke-like episodes (transient ischemic attacks), strokes, and seizures. In addition, the fragile blood vessels that grow can develop bulges (aneurysms), or they can break open, leading to bleeding (hemorrhage) in the brain. Affected individuals may develop recurrent headaches, involuntary jerking movements (chorea), or a decline in thinking ability. The symptoms of moyamoya disease often worsen over time if the condition is not treated. Some people have the blood vessel changes characteristic of moyamoya disease in addition to features of another disorder, such as neurofibromatosis type 1, sickle cell disease, or Graves' disease. These individuals are said to have moyamoya syndrome.","Curated_Disease_Description_Source__c":"GARD:0007064","GARD_Synonym__c":"idiopathic moyamoya disease; moyamoya syndrome; progressive intracranial arterial occlusion","Name":"Moyamoya disease","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Moyamoya Foundation","Website__c":"https://moyamoya-foundation.org/"},{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.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":"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"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:2573"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0026654"},{"Type__c":"GTR","Curie__c":"MEDGEN:C2931384"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007064","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84895","Source__c":"C0026654; MONDO:0016820","Xref__c":"C84895"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=89142007","Source__c":"C0026654; MONDO:0016820","Xref__c":"89142007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=7726","Source__c":"C0026654","Xref__c":"MEDGEN:7726"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A13099","Source__c":"MONDO:0016820","Xref__c":"DOID:13099"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS252350","Source__c":"MONDO:0016820","Xref__c":"OMIMPS:252350"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C009072","Source__c":"C0026654; MONDO:0016820","Xref__c":"D009072"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0026654","Source__c":"C0026654","Xref__c":"C0026654"},{"URL__c":"https://www.orpha.net/en/disease/detail/2573","Source__c":"C0026654; MONDO:0016820; ORPHA:2573","Xref__c":"ORPHA:2573"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016820","Source__c":"GARD:0007064","Xref__c":"MONDO:0016820"},{"URL__c":"https://medlineplus.gov/genetics/condition/moyamoya-disease","Source__c":"GARD:0007064","Xref__c":"https://medlineplus.gov/genetics/condition/moyamoya-disease"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=69116000","Source__c":"C0026654","Xref__c":"69116000"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/I67.5","Source__c":"MONDO:0016820","Xref__c":"I67.5"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/moyamoya-disease"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DIAPH1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant","Non-Mendelian inheritance","X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2573","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001009","HPO_Synonym__c":"Telangiectases","HPO_Name__c":"Telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2573","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:2573","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:2573","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the cerebral blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100659","HPO_Synonym__c":"Abnormality of the cerebral blood vessels; Abnormality of the cerebral vasculature","HPO_Name__c":"Abnormal cerebral vascular morphology","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2573","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in size of the ventricular system of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002119","HPO_Synonym__c":"Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation","HPO_Name__c":"Ventriculomegaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Vascular Neurology","Vascular Medicine","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["idiopathic moyamoya disease"," moyamoya syndrome"," progressive intracranial arterial occlusion"]}