{"Name":"Gamma-glutamylcysteine synthetase deficiency","DiseaseID__c":"GARD:0016631","id":16631,"encodedName":"gamma-glutamylcysteine-synthetase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Gamma-glutamylcysteine synthetase deficiency","Xref_IDs__c":"36799008; C1856603; C565557; DOID:0111681; MEDGEN:347272; MONDO:0009259; OMIM:230450; ORPHA:33574","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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009259","Disease_Description__c":"A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.","GARD_Name__c":"Gamma-glutamylcysteine synthetase deficiency","GARD_Synonym__c":"anemia, congenital, nonspherocytic hemolytic, 7; cnsha7; gamma-glutamylcysteine synthetase deficiency, hemolytic anaemia due to; gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to; glutamate-cysteine ligase deficiency; hemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency; hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; inborn error of glutamate-cysteine ligase activity; inborn glutamate-cysteine ligase activity disorder; rare inborn error of glutamate-cysteine ligase activity","Curated_Disease_Description_Source__c":"MONDO:0009259","Curated_Disease_Description__c":"A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:33574","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009259","ORPHANET_ID__c":"ORPHA:33574","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de glutamato-cisteína ligasa","Spanish_Description_Source__c":"ORPHA:33574","Spanish_Description__c":"Es un trastorno caracterizado principalmente por la presencia de anemia hemolítica (por lo general bastante leve), aunque también se han detectado síntomas neurológicos","Spanish_Disease_Name__c":"deficiencia de glutamato-cisteína ligasa","Spanish_GARD_Synonym__c":"deficiencia de gamma-glutamilcisteína sintetasa","Category_Linearization__c":"ORPHA:97992","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 principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.","Curated_Disease_Description_Source__c":"MONDO:0009259","GARD_Synonym__c":"anemia, congenital, nonspherocytic hemolytic, 7; cnsha7; gamma-glutamylcysteine synthetase deficiency, hemolytic anaemia due to; gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to; glutamate-cysteine ligase deficiency; hemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency; hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; inborn error of glutamate-cysteine ligase activity; inborn glutamate-cysteine ligase activity disorder; rare inborn error of glutamate-cysteine ligase activity","Name":"Gamma-glutamylcysteine synthetase deficiency","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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood 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:33574"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/33574","Source__c":"C1856603; MONDO:0009259","Xref__c":"ORPHA:33574"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347272","Source__c":"C1856603","Xref__c":"MEDGEN:347272"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111681","Source__c":"MONDO:0009259","Xref__c":"DOID:0111681"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1856603","Source__c":"C1856603","Xref__c":"C1856603"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=36799008","Source__c":"MONDO:0009259","Xref__c":"36799008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565557","Source__c":"MONDO:0009259","Xref__c":"C565557"},{"URL__c":"https://www.omim.org/entry/230450","Source__c":"C1856603; MONDO:0009259; ORPHA:33574","Xref__c":"OMIM:230450"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009259","Source__c":"GARD:0016631","Xref__c":"MONDO:0009259"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GCLC","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:33574","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001923","HPO_Synonym__c":"Increased immature red blood cells; Increased number of immature red blood cells; Increased reticulocyte count; Increased reticulocytes","HPO_Name__c":"Reticulocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33574","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000709","HPO_Synonym__c":"Psychosis","HPO_Name__c":"Psychosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33574","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"}},{"Provided_By__c":"ORPHA:33574","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:33574","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010522","HPO_Synonym__c":"Reading disability","HPO_Name__c":"Dyslexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33574","HPO_Frequency__c":"Occasional (5-29%)","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:33574","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:33574","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A type of anemia caused by premature destruction of red blood cells (hemolysis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001878","HPO_Synonym__c":"Haemolytic anemia; Increased hemolysis","HPO_Name__c":"Hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33574","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002503","HPO_Synonym__c":"Degeneration of the spinocerebellar tracts; Spinocerebellar degeneration","HPO_Name__c":"Spinocerebellar tract degeneration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33574","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000952","HPO_Synonym__c":"Icterus; Jaundice; Yellow skin; Yellowing of the skin","HPO_Name__c":"Jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33574","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33574","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of an amino acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003355","HPO_Synonym__c":"High urine amino acid levels; Hyperaminoaciduria; Increased levels of animo acids in urine","HPO_Name__c":"Aminoaciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:33574","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33574","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33574","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Hematology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["anemia, congenital, nonspherocytic hemolytic, 7"," cnsha7"," gamma-glutamylcysteine synthetase deficiency, hemolytic anaemia due to"," gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to"," glutamate-cysteine ligase deficiency"," hemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency"," hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency"," inborn error of glutamate-cysteine ligase activity"," inborn glutamate-cysteine ligase activity disorder"," rare inborn error of glutamate-cysteine ligase activity"]}