{"Name":"HEC syndrome","DiseaseID__c":"GARD:0002620","id":2620,"encodedName":"hec-syndrome","IsDeleted":false,"Disease_Name_Full__c":"HEC syndrome","Xref_IDs__c":"721015008; C1833607; C535855; MEDGEN:331549; MONDO:0010901; OMIM:600559; ORPHA:2119","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010901","Disease_Description__c":"A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evience of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995.","GARD_Name__c":"HEC syndrome","GARD_Synonym__c":"hec (hydrocephalus, endocardial fibroelastosis, cataract) syndrome; hydrocephalus with endocardial fibroelastosis and cataract syndrome; hydrocephalus-endocardial fibroelastosis-cataract syndrome; hydrocephalus, endocardial fibroelastosis, and cataracts","Curated_Disease_Description_Source__c":"MONDO:0010901","Curated_Disease_Description__c":"A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2119","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010901","ORPHANET_ID__c":"ORPHA:2119","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome hec","Spanish_Description_Source__c":"ORPHA:2119","Spanish_Description__c":"Es una enfermedad cardíaca sindrómica y poco frecuente caracterizada por hidrocefalia comunicante, fibroelastosis endocárdica y cataratas congénitas. Se ha asociado a antecedentes maternos de infección de las vías respiratorias superiores en el primer trimestre del embarazo y de polihidramnios en el tercer trimestre. No se han descrito evidencias de toxoplasmosis, rubéola, citomegalovirus, virus del herpes simple, sífilis o galactosemia. No ha habido más casos descritos en la literatura desde 1995.","Spanish_Disease_Name__c":"síndrome hec","Spanish_GARD_Synonym__c":"hidrocefalia-fibroelastosis-cataratas","Category_Linearization__c":"ORPHA:97929","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 syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995.","Curated_Disease_Description_Source__c":"MONDO:0010901","GARD_Synonym__c":"hec (hydrocephalus, endocardial fibroelastosis, cataract) syndrome; hydrocephalus with endocardial fibroelastosis and cataract syndrome; hydrocephalus-endocardial fibroelastosis-cataract syndrome; hydrocephalus, endocardial fibroelastosis, and cataracts","Name":"HEC syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2119"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1833607","Source__c":"C1833607","Xref__c":"C1833607"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535855","Source__c":"MONDO:0010901","Xref__c":"C535855"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=331549","Source__c":"C1833607","Xref__c":"MEDGEN:331549"},{"URL__c":"https://www.omim.org/entry/600559","Source__c":"C1833607; MONDO:0010901; ORPHA:2119","Xref__c":"OMIM:600559"},{"URL__c":"https://www.orpha.net/en/disease/detail/2119","Source__c":"C1833607; MONDO:0010901; ORPHA:2119","Xref__c":"ORPHA:2119"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721015008","Source__c":"C1833607; MONDO:0010901","Xref__c":"721015008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010901","Source__c":"GARD:0002620","Xref__c":"MONDO:0010901"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2119","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2119","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000600","HPO_Name__c":"Abnormality of the pharynx","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2119","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100673","HPO_Name__c":"Vaginal hydrocele","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2119","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001706","HPO_Name__c":"Endocardial fibroelastosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2119","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2119","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001638","HPO_Synonym__c":"Disease of the heart muscle","HPO_Name__c":"Cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2119","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2119","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2119","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the pupil.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000615","HPO_Synonym__c":"Abnormal pupillary morphology; Abnormality of the pupil; Pupillary abnormalities; Pupillary abnormality","HPO_Name__c":"Abnormal pupil morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2119","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural abnormality of retinal vasculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008046","HPO_Synonym__c":"Abnormality of retina blood vessels; Abnormality of the retinal vasculature","HPO_Name__c":"Abnormal retinal vascular morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2119","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001334","HPO_Name__c":"Communicating hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2119","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000519","HPO_Synonym__c":"Bilateral congenital cataracts; Cataract, congenital; Clouding of the lens of the eye at birth; Congenital cataract; Congenital cataracts; Congenital cataracts, bilateral","HPO_Name__c":"Developmental cataract","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Cardiology","Pediatrics"],"Account":["Cardiomyopathy"]},"synonyms":["hec (hydrocephalus, endocardial fibroelastosis, cataract) syndrome"," hydrocephalus with endocardial fibroelastosis and cataract syndrome"," hydrocephalus-endocardial fibroelastosis-cataract syndrome"," hydrocephalus, endocardial fibroelastosis, and cataracts"]}