{"Name":"Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome","DiseaseID__c":"GARD:0019092","id":19092,"encodedName":"obesity-colitis-hypothyroidism-cardiac-hypertrophy-developmental-delay-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome","Xref_IDs__c":"722051004; C4302879; MEDGEN:928548; MONDO:0019506; ORPHA:88643","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":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019506","Disease_Description__c":"Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.","GARD_Name__c":"Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome","GARD_Synonym__c":"obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome","Curated_Disease_Description_Source__c":"ORPHA:88643","Curated_Disease_Description__c":"Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay.","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:88643","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019506","ORPHANET_ID__c":"ORPHA:88643","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de obesidad-colitis-hipotiroidismo-hipertrofia cardíaca-retraso del desarrollo","Spanish_Description_Source__c":"ORPHA:88643","Spanish_Description__c":"Es un trastorno caracterizado por obesidad precoz, hipotiroidismo congénito, colitis neonatal, hipertrofia cardíaca, craneosinostosis y retraso del desarrollo. Se ha descrito en dos hermanos, uno de los cuales falleció en el primer mes de vida. Los padres no eran consanguíneos y gozaban de buena salud; sin embargo, los embarazos se complicaron por un síndrome HELLP materno (hemólisis, enzimas hepáticas elevadas y bajo recuento plaquetario). El modo de herencia aún no se ha establecido con certeza.","Spanish_Disease_Name__c":"síndrome de obesidad-colitis-hipotiroidismo-hipertrofia cardíaca-retraso del desarrollo","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97978","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":"Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay.","Curated_Disease_Description_Source__c":"ORPHA:88643","GARD_Synonym__c":"obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome","Name":"Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay 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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:88643"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:88643"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/88643","Source__c":"C4302879; MONDO:0019506; ORPHA:88643","Xref__c":"ORPHA:88643"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=928548","Source__c":"C4302879","Xref__c":"MEDGEN:928548"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722051004","Source__c":"C4302879; MONDO:0019506","Xref__c":"722051004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4302879","Source__c":"C4302879","Xref__c":"C4302879"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019506","Source__c":"GARD:0019092","Xref__c":"MONDO:0019506"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:88643","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88643","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001640","HPO_Synonym__c":"Enlarged heart; Increased heart size","HPO_Name__c":"Cardiomegaly","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88643","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002583","HPO_Name__c":"Colitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88643","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001363","HPO_Synonym__c":"Cranial suture synostosis; Craniosyostosis; Early fusion of cranial sutures; Premature closure of cranial sutures; Premature suture closure","HPO_Name__c":"Craniosynostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88643","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of albumin in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003073","HPO_Synonym__c":"Decreased albumin concentration; Decreased albumin level; Decreased albumin level in blood; Decreased circulating abumin concentration; Hypoalbuminaemia; Hypoalbuminemia; Low blood albumin; Reduced albumin concentration; Reduced albumin level; Reduced albumin level in blood","HPO_Name__c":"Hypoalbuminemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:88643","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hypothyroidism with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000851","HPO_Synonym__c":"Hypothyroidism, congenital; Underactive thyroid gland from birth","HPO_Name__c":"Congenital hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88643","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome"]}