{"Name":"Thyrocerebrorenal syndrome","DiseaseID__c":"GARD:0001646","id":1646,"encodedName":"thyrocerebrorenal-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Thyrocerebrorenal syndrome","Xref_IDs__c":"733096007; C1848813; C536908; MEDGEN:341311; MONDO:0010128; OMIM:274240; ORPHA:3327","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010128","Disease_Description__c":"A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978.","GARD_Name__c":"Thyrocerebrorenal syndrome","GARD_Synonym__c":"cutler bass romshe syndrome; cutler-bass-romshe syndrome; thyrocerebroretinal syndrome","Curated_Disease_Description_Source__c":"MONDO:0010128","Curated_Disease_Description__c":"A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:3327","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010128","ORPHANET_ID__c":"ORPHA:3327","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome tiroide-cerebro-renal","Spanish_Description_Source__c":"ORPHA:3327","Spanish_Description__c":"Es un trastorno renal sindrómico poco frecuente caracterizado por enfermedad renal, neurológica y tiroidea asociada a trombocitopenia. No ha habido más casos descritos en la literatura desde 1978.","Spanish_Disease_Name__c":"síndrome tiroide-cerebro-renal","Spanish_GARD_Synonym__c":"síndrome de cutler-bass-romshe","Category_Linearization__c":"ORPHA:93626","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 renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978.","Curated_Disease_Description_Source__c":"MONDO:0010128","GARD_Synonym__c":"cutler bass romshe syndrome; cutler-bass-romshe syndrome; thyrocerebroretinal syndrome","Name":"Thyrocerebrorenal 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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:3327"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1848813","Source__c":"C1848813","Xref__c":"C1848813"},{"URL__c":"https://www.orpha.net/en/disease/detail/3327","Source__c":"C1848813; MONDO:0010128","Xref__c":"ORPHA:3327"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733096007","Source__c":"MONDO:0010128","Xref__c":"733096007"},{"URL__c":"https://www.omim.org/entry/274240","Source__c":"C1848813; MONDO:0010128; ORPHA:3327","Xref__c":"OMIM:274240"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536908","Source__c":"MONDO:0010128","Xref__c":"C536908"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341311","Source__c":"C1848813","Xref__c":"MEDGEN:341311"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010128","Source__c":"GARD:0001646","Xref__c":"MONDO:0010128"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3327","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009127","HPO_Synonym__c":"Abnormal limb muscles; Muscle issues in the arms and/or legs","HPO_Name__c":"Abnormality of the musculature of the limbs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3327","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3327","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of inflammation affecting the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000123","HPO_Synonym__c":"Kidney inflammation","HPO_Name__c":"Nephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3327","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002470","HPO_Name__c":"Nonprogressive cerebellar ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3327","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3327","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001336","HPO_Synonym__c":"Myoclonic jerks","HPO_Name__c":"Myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3327","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A goiter that is not associated with functional thyroid abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009798","HPO_Name__c":"Euthyroid goiter","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3327","HPO_Frequency__c":"Frequent (30-79%)","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:3327","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3327","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3327","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal coordination of muscles involved in speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001350","HPO_Synonym__c":"Slurred speech","HPO_Name__c":"Slurred speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["cutler bass romshe syndrome"," cutler-bass-romshe syndrome"," thyrocerebroretinal syndrome"]}