{"Name":"Anencephaly 1","DiseaseID__c":"GARD:0005808","id":5808,"encodedName":"anencephaly-1","IsDeleted":false,"Disease_Name_Full__c":"Anencephaly 1","Xref_IDs__c":"89369001; C5561928; MEDGEN:1794138; MONDO:0008791; OMIM:206500; ORPHA:1048","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008791","Disease_Description__c":"A neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.","GARD_Name__c":"Anencephaly 1","GARD_Synonym__c":"isolated anencephaly/exencephaly","Curated_Disease_Description_Source__c":"GARD:0005808","Curated_Disease_Description__c":"Isolated anencephaly/exencephaly is a type of neural tube defect characterized by abnormal development of the brain and the bones of the skull. The neural tube is a narrow channel that normally folds and closes between the 3rd and 4th weeks of pregnancy, forming the brain and spinal cord of the embryo. Isolated anencephaly/exencephaly occurs when the 'cephalic' or head end of the neural tube fails to close, causing the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed (not covered by bone or skin). Affected babies are usually blind, deaf, unconscious, and unable to feel pain. Almost all babies with Isolated anencephaly/exencephaly die before birth, although some may survive a few hours or a few days after birth. Isolated anencephaly/exencephaly is likely caused by an interaction between genetic and environmental factors, many of which remain unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:1048","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008791","ORPHANET_ID__c":"ORPHA:1048","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anencefalia/exencefalia aislada","Spanish_Description_Source__c":"ORPHA:1048","Spanish_Description__c":"Es un defecto del tubo neural. Esta malformación se caracteriza por la ausencia total o parcial de la bóveda craneal y de la piel que la recubre, con ausencia de cerebro o reducción de este a una pequeña masa. La mayoría de los casos nacen muertos, aunque algunos pueden sobrevivir unas pocas horas o incluso unos pocos días.","Spanish_Disease_Name__c":"anencefalia/exencefalia aislada","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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":"Isolated anencephaly/exencephaly is a type of neural tube defect characterized by abnormal development of the brain and the bones of the skull. The neural tube is a narrow channel that normally folds and closes between the 3rd and 4th weeks of pregnancy, forming the brain and spinal cord of the embryo. Isolated anencephaly/exencephaly occurs when the 'cephalic' or head end of the neural tube fails to close, causing the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed (not covered by bone or skin). Affected babies are usually blind, deaf, unconscious, and unable to feel pain. Almost all babies with Isolated anencephaly/exencephaly die before birth, although some may survive a few hours or a few days after birth. Isolated anencephaly/exencephaly is likely caused by an interaction between genetic and environmental factors, many of which remain unknown.","Curated_Disease_Description_Source__c":"GARD:0005808","GARD_Synonym__c":"isolated anencephaly/exencephaly","Name":"Anencephaly 1","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Child Neurology Foundation","Website__c":"https://www.childneurologyfoundation.org/"},{"Account_Name__c":"Birth Defect Research for Children","Website__c":"https://www.birthdefects.org/"},{"Account_Name__c":"Fetal Health Foundation","Website__c":"https://www.fetalhealthfoundation.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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"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":"Neonatal","Provided_By__c":"ORPHA:1048"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1048"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/1048","Source__c":"C5561928; MONDO:0008791","Xref__c":"ORPHA:1048"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=89369001","Source__c":"MONDO:0008791","Xref__c":"89369001"},{"URL__c":"https://www.omim.org/entry/206500","Source__c":"C5561928; MONDO:0008791; ORPHA:1048","Xref__c":"OMIM:206500"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5561928","Source__c":"C5561928","Xref__c":"C5561928"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1794138","Source__c":"C5561928","Xref__c":"MEDGEN:1794138"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008791","Source__c":"GARD:0005808","Xref__c":"MONDO:0008791"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TRIM36","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1048","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008207","HPO_Synonym__c":"Adrenocortical insufficiency; Primary adrenocortical failure","HPO_Name__c":"Primary adrenal insufficiency","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1048","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002323","HPO_Synonym__c":"Embryonic anencephaly; Fetal anencephaly","HPO_Name__c":"Anencephaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["isolated anencephaly/exencephaly"]}