{"Name":"Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency","DiseaseID__c":"GARD:0009965","id":9965,"encodedName":"hypercoagulability-syndrome-due-to-glycosylphosphatidylinositol-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency","Xref_IDs__c":"724344004; C5201145; MEDGEN:1684821; MONDO:0012465; OMIM:610293; ORPHA:83639","USA_Estimate__c":"1,000","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":"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":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012465","Disease_Description__c":"A rare congenital disorder of glycosylation characterized by cerebral and portal vein thrombosis, portal hypertension, macrocephaly, and persistent absence seizures. Additional reported features include mild to moderate global developmental delay and intellectual disability, as well as thrombocytopenia. Brain imaging may show variable stages of infarction and cerebral and cerebellar atrophy.","GARD_Name__c":"Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency","GARD_Synonym__c":"congenital disorder of glycosylation due to pigm deficiency; glycosylphosphatidylinositol biosynthesis defect 1; gpibd1; pigm-cdg","Curated_Disease_Description_Source__c":"MONDO:0012465","Curated_Disease_Description__c":"A rare congenital disorder of glycosylation characterized by cerebral and portal vein thrombosis, portal hypertension, macrocephaly, and persistent absence seizures. Additional reported features include mild to moderate global developmental delay and intellectual disability, as well as thrombocytopenia. Brain imaging may show variable stages of infarction and cerebral and cerebellar atrophy.","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:83639","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012465","ORPHANET_ID__c":"ORPHA:83639","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipercoagulabilidad por deficiencia de glicosilfosfatidilinositol","Spanish_Description_Source__c":"ORPHA:83639","Spanish_Description__c":"Es un trastorno congénito de la glucosilación poco frecuente caracterizado por trombosis de las venas porta y cerebral, hipertensión portal, macrocefalia y crisis de ausencia persistentes. Otras características adicionales descritas incluyen retraso del desarrollo global de leve a moderado y discapacidad intelectual, así como trombocitopenia. La neuroimagen puede mostrar infartos y atrofia cerebral y cerebelosa en diferentes estadios.","Spanish_Disease_Name__c":"síndrome de hipercoagulabilidad por deficiencia de glicosilfosfatidilinositol","Spanish_GARD_Synonym__c":"pigm-cdg; trastorno congénito de la glicosilación por deficiencia de pigm","Category_Linearization__c":"ORPHA:97992","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 congenital disorder of glycosylation characterized by cerebral and portal vein thrombosis, portal hypertension, macrocephaly, and persistent absence seizures. Additional reported features include mild to moderate global developmental delay and intellectual disability, as well as thrombocytopenia. Brain imaging may show variable stages of infarction and cerebral and cerebellar atrophy.","Curated_Disease_Description_Source__c":"MONDO:0012465","GARD_Synonym__c":"congenital disorder of glycosylation due to pigm deficiency; glycosylphosphatidylinositol biosynthesis defect 1; gpibd1; pigm-cdg","Name":"Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"CDG CARE","Website__c":"https://cdgcare.org/"},{"Account_Name__c":"CDG Canada","Website__c":"https://canadacdg.com/"}],"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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:83639"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:83639"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1853205"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009965","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724344004","Source__c":"MONDO:0012465","Xref__c":"724344004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1684821","Source__c":"C5201145","Xref__c":"MEDGEN:1684821"},{"URL__c":"https://www.omim.org/entry/610293","Source__c":"C5201145; MONDO:0012465; ORPHA:83639","Xref__c":"OMIM:610293"},{"URL__c":"https://www.orpha.net/en/disease/detail/83639","Source__c":"C5201145; MONDO:0012465","Xref__c":"ORPHA:83639"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5201145","Source__c":"C5201145","Xref__c":"C5201145"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012465","Source__c":"GARD:0009965","Xref__c":"MONDO:0012465"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PIGM","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:610293","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased pressure in the portal vein.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001409","HPO_Name__c":"Portal hypertension","Feature_System__c":"Cardiovascular System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610293","Feature__r":{"HPO_Description__c":"An obstruction in the veins of the liver caused by a blood clot (thrombosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030243","HPO_Synonym__c":"Blood clot in liver vein; Hepatic venous thrombosis","HPO_Name__c":"Hepatic vein thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610293","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010819","HPO_Synonym__c":"Astatic seizure; Astatic seizures; Atonic seizures; Drop attacks; Drop seizures; Hypotonic seizure","HPO_Name__c":"Atonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610293","Feature__r":{"HPO_Description__c":"Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031555","HPO_Name__c":"Reduced granulocyte CD59 level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:610293","Feature__r":{"HPO_Description__c":"Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004936","HPO_Synonym__c":"Blood clot in vein","HPO_Name__c":"Venous thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610293","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002121","HPO_Synonym__c":"Absence seizure; Absence seizures; Brief seizures with staring spells; Petit mal; Petit mal seizure; Petit mal seizures","HPO_Name__c":"Generalized non-motor (absence) seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610293","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610293","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610293","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610293","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030242","HPO_Synonym__c":"Blood clot in portal vein","HPO_Name__c":"Portal vein thrombosis","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Hematology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Hematology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["congenital disorder of glycosylation due to pigm deficiency"," glycosylphosphatidylinositol biosynthesis defect 1"," gpibd1"," pigm-cdg"]}