{"Name":"Moyamoya disease with early-onset achalasia","DiseaseID__c":"GARD:0017664","id":17664,"encodedName":"moyamoya-disease-with-early-onset-achalasia","IsDeleted":false,"Disease_Name_Full__c":"Moyamoya disease with early-onset achalasia","Xref_IDs__c":"718551002; C3810403; MEDGEN:816733; MONDO:0014331; OMIM:615750; ORPHA:401945","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":2,"Description_Source__c":"MONDO:0014331","Disease_Description__c":"Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease; see this term). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.","GARD_Name__c":"Moyamoya disease with early-onset achalasia","GARD_Synonym__c":"moyamoya 6 with achalasia; moyamoya disease 6 with or without achalasia; mymy6","Curated_Disease_Description_Source__c":"ORPHA:401945","Curated_Disease_Description__c":"Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:401945","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014331","ORPHANET_ID__c":"ORPHA:401945","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de moyamoya con acalasia de inicio precoz","Spanish_Description_Source__c":"ORPHA:401945","Spanish_Description__c":"Es un trastorno neurológico autosómico recesivo muy poco frecuente descrito hasta la fecha en unas pocas familias. Se caracteriza por la asociación de acalasia de inicio temprano (que se manifiesta en la lactancia) con angiopatía intracraneal grave que es compatible, en la mayoría de los casos, con la angiopatía moyamoya (enfermedad de moyamoya). Otras manifestaciones variables asociadas incluyen hipertensión, fenómeno de Raynaud y livedo reticularis.","Spanish_Disease_Name__c":"enfermedad de moyamoya con acalasia de inicio precoz","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98023","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 with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.","Curated_Disease_Description_Source__c":"ORPHA:401945","GARD_Synonym__c":"moyamoya 6 with achalasia; moyamoya disease 6 with or without achalasia; mymy6","Name":"Moyamoya disease with early-onset achalasia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Moyamoya Foundation","Website__c":"https://moyamoya-foundation.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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:401945"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:401945"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=816733","Source__c":"C3810403","Xref__c":"MEDGEN:816733"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3810403","Source__c":"C3810403","Xref__c":"C3810403"},{"URL__c":"https://www.orpha.net/en/disease/detail/401945","Source__c":"C3810403; MONDO:0014331","Xref__c":"ORPHA:401945"},{"URL__c":"https://www.omim.org/entry/615750","Source__c":"C3810403; MONDO:0014331; ORPHA:401945","Xref__c":"OMIM:615750"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718551002","Source__c":"MONDO:0014331","Xref__c":"718551002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014331","Source__c":"GARD:0017664","Xref__c":"MONDO:0014331"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GUCY1A1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:401945","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:401945","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030402","HPO_Name__c":"Abnormal platelet aggregation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401945","HPO_Frequency__c":"Always (100%)","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:401945","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":"ORPHA:401945","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030880","HPO_Synonym__c":"Raynaud's phenomenon","HPO_Name__c":"Raynaud phenomenon","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401945","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401945","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000965","HPO_Name__c":"Cutis marmorata","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:401945","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011834","HPO_Name__c":"Moyamoya phenomenon","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Gastroenterology"],"Specialist":["Genetics","Neurology","Gastroenterology","Vascular Neurology","Vascular Medicine","Pediatrics"]},"synonyms":["moyamoya 6 with achalasia"," moyamoya disease 6 with or without achalasia"," mymy6"]}