{"Name":"Gamma-Glutamyltransferase deficiency","DiseaseID__c":"GARD:0010099","id":10099,"encodedName":"gamma-glutamyltransferase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Gamma-Glutamyltransferase deficiency","Xref_IDs__c":"78586005; C0268524; C536836; DOID:0111257; MEDGEN:82813; MONDO:0009285; OMIM:231950; ORPHA:33573","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009285","Disease_Description__c":"A disorder that is characterized by increased glutathione concentration in the plasma and urine.","GARD_Name__c":"Gamma-Glutamyltransferase deficiency","GARD_Synonym__c":"gamma-glutamyl transferase deficiency; gamma-glutamyl transpeptidase deficiency; gamma-glutamyltranspeptidase deficiency; ggt deficiency; ggt1 deficiency; glutathioninuria; glutathionuria; gtg deficiency; inborn error of glutathione hydrolase activity; inborn glutathione hydrolase activity disorder; rare inborn error of glutathione hydrolase activity","Curated_Disease_Description_Source__c":"MONDO:0009285","Curated_Disease_Description__c":"A disorder that is characterized by increased glutathione concentration in the plasma and urine.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:33573","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009285","ORPHANET_ID__c":"ORPHA:33573","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de gamma-glutamil transpeptidasa","Spanish_Description_Source__c":"ORPHA:33573","Spanish_Description__c":"Es un trastorno caracterizado por un aumento de la concentración de glutatión en el plasma y la orina.","Spanish_Disease_Name__c":"deficiencia de gamma-glutamil transpeptidasa","Spanish_GARD_Synonym__c":"deficiencia de gamma-glutamil transferasa; glutationuria","Category_Linearization__c":"ORPHA:68367","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 disorder that is characterized by increased glutathione concentration in the plasma and urine.","Curated_Disease_Description_Source__c":"MONDO:0009285","GARD_Synonym__c":"gamma-glutamyl transferase deficiency; gamma-glutamyl transpeptidase deficiency; gamma-glutamyltranspeptidase deficiency; ggt deficiency; ggt1 deficiency; glutathioninuria; glutathionuria; gtg deficiency; inborn error of glutathione hydrolase activity; inborn glutathione hydrolase activity disorder; rare inborn error of glutathione hydrolase activity","Name":"Gamma-Glutamyltransferase deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:33573"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010099","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268524","Source__c":"C0268524","Xref__c":"C0268524"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536836","Source__c":"MONDO:0009285","Xref__c":"C536836"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82813","Source__c":"C0268524","Xref__c":"MEDGEN:82813"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=78586005","Source__c":"C0268524; MONDO:0009285","Xref__c":"78586005"},{"URL__c":"https://www.orpha.net/en/disease/detail/33573","Source__c":"C0268524; MONDO:0009285; ORPHA:33573","Xref__c":"ORPHA:33573"},{"URL__c":"https://www.omim.org/entry/231950","Source__c":"C0268524; MONDO:0009285; ORPHA:33573","Xref__c":"OMIM:231950"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111257","Source__c":"MONDO:0009285","Xref__c":"DOID:0111257"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009285","Source__c":"GARD:0010099","Xref__c":"MONDO:0009285"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GGT1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:33573","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33573","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33573","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33573","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Activity of gamma-glutamyltransferase in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes and cultured fibroblasts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000578","HPO_Synonym__c":"Reduced tissue gamma-glutamyl transpeptidase activity","HPO_Name__c":"Reduced tissue gamma-glutamyltransferase activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:33573","HPO_Frequency__c":"Very frequent (80-99%)","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:33573","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Level of glutathione in the urine above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034586","HPO_Synonym__c":"Glutathione high in urine","HPO_Name__c":"Glutathionuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:33573","HPO_Frequency__c":"Occasional (5-29%)","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:33573","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33573","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased level of glutathione in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034456","HPO_Synonym__c":"Glutathione high in blood","HPO_Name__c":"Elevated circulating glutathione concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:33573","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["gamma-glutamyl transferase deficiency"," gamma-glutamyl transpeptidase deficiency"," gamma-glutamyltranspeptidase deficiency"," ggt deficiency"," ggt1 deficiency"," glutathioninuria"," glutathionuria"," gtg deficiency"," inborn error of glutathione hydrolase activity"," inborn glutathione hydrolase activity disorder"," rare inborn error of glutathione hydrolase activity"]}