{"Name":"Arginine:glycine amidinotransferase deficiency","DiseaseID__c":"GARD:0010323","id":10323,"encodedName":"arginineglycine-amidinotransferase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Arginine:glycine amidinotransferase deficiency","Xref_IDs__c":"702440000; C198575; C2675179; C567192; DOID:0050712; MEDGEN:436367; MONDO:0012996; OMIM:612718; ORPHA:35704","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012996","Disease_Description__c":"L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.","GARD_Name__c":"Arginine:glycine amidinotransferase deficiency","GARD_Synonym__c":"agat deficiency; ccds3; cerebral creatine deficiency syndrome 3; cerebral creatine deficiency syndrome type 3; creatine deficiency syndrome due to agat deficiency; creatine deficiency syndrome due to arginine:glycine amidinotransferase deficiency; disorder of glycine amidinotransferase activity; gatm deficiency; glycine amidinotransferase activity disease; l-arginine:glycine amidinotransferase deficiency","Curated_Disease_Description_Source__c":"GARD:0010323","Curated_Disease_Description__c":"Arginine:glycine amidinotransferase deficiency is an inherited disorder that primarily affects the brain. People with this disorder have mild to moderate intellectual disability and delayed speech development. Some affected individuals develop autistic behaviors that affect communication and social interaction. They may experience seizures, especially when they have a fever. Children with arginine:glycine amidinotransferase deficiency may not gain weight and grow at the expected rate (failure to thrive), and have delayed development of motor skills such as sitting and walking. Affected individuals may also have weak muscle tone and tend to tire easily.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:35704","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012996","ORPHANET_ID__c":"ORPHA:35704","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de l-arginina:glicina amidinotransferasa","Spanish_Description_Source__c":"ORPHA:35704","Spanish_Description__c":"La deficiencia de L-Arginina:glicina amidinotransferasa (AGAT) es un tipo muy poco frecuente del síndrome de deficiencia de creatina caracterizado por un retraso generalizado del desarrollo, discapacidad intelectual y miopatía.","Spanish_Disease_Name__c":"deficiencia de l-arginina:glicina amidinotransferasa","Spanish_GARD_Synonym__c":"deficiencia agat","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":"Arginine:glycine amidinotransferase deficiency is an inherited disorder that primarily affects the brain. People with this disorder have mild to moderate intellectual disability and delayed speech development. Some affected individuals develop autistic behaviors that affect communication and social interaction. They may experience seizures, especially when they have a fever. Children with arginine:glycine amidinotransferase deficiency may not gain weight and grow at the expected rate (failure to thrive), and have delayed development of motor skills such as sitting and walking. Affected individuals may also have weak muscle tone and tend to tire easily.","Curated_Disease_Description_Source__c":"GARD:0010323","GARD_Synonym__c":"agat deficiency; ccds3; cerebral creatine deficiency syndrome 3; cerebral creatine deficiency syndrome type 3; creatine deficiency syndrome due to agat deficiency; creatine deficiency syndrome due to arginine:glycine amidinotransferase deficiency; disorder of glycine amidinotransferase activity; gatm deficiency; glycine amidinotransferase activity disease; l-arginine:glycine amidinotransferase deficiency","Name":"Arginine:glycine amidinotransferase 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"},{"Account_Name__c":"MitoAction","Website__c":"https://www.mitoaction.org/"},{"Account_Name__c":"United Mitochondrial Disease Foundation","Website__c":"https://www.umdf.org"},{"Account_Name__c":"Association for Creatine Deficiencies","Website__c":"https://creatineinfo.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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:35704"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2675179"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010323","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK3794","Source__c":"Gene Review","Xref__c":"NBK3794"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2675179","Source__c":"C2675179","Xref__c":"C2675179"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=436367","Source__c":"C2675179","Xref__c":"MEDGEN:436367"},{"URL__c":"https://www.orpha.net/en/disease/detail/35704","Source__c":"C2675179; MONDO:0012996; ORPHA:35704","Xref__c":"ORPHA:35704"},{"URL__c":"https://www.omim.org/entry/612718","Source__c":"C2675179; MONDO:0012996; ORPHA:35704","Xref__c":"OMIM:612718"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050712","Source__c":"MONDO:0012996","Xref__c":"DOID:0050712"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702440000","Source__c":"C2675179; MONDO:0012996","Xref__c":"702440000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567192","Source__c":"MONDO:0012996","Xref__c":"C567192"},{"URL__c":"https://medlineplus.gov/genetics/condition/arginineglycine-amidinotransferase-deficiency","Source__c":"GARD:0010323","Xref__c":"https://medlineplus.gov/genetics/condition/arginineglycine-amidinotransferase-deficiency"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C198575","Source__c":"C2675179","Xref__c":"C198575"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012996","Source__c":"GARD:0010323","Xref__c":"MONDO:0012996"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GATM","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gatm","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:35704","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35704","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025051","HPO_Synonym__c":"Low brain creatine phosphate; Reduced brain creatine level by magnetic resonance spectroscopy","HPO_Name__c":"Reduced brain creatine level by MRS","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"ORPHA:35704","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The amount of creatine in the urine, normalized for urine concentration, is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000748","HPO_Name__c":"Decreased urinary creatine level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35704","HPO_Frequency__c":"Very frequent (80-99%)","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:35704","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Activity of L-arginine:glycine amidinotransferase (GATM; EC 2.1.4.1) in the tissues below the lower limit of normal. GATM activity can be measured in multiple tissues including leukocytes and cultured fibroblasts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000572","HPO_Name__c":"Reduced tissue arginine:glycine amidinotransferase activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35704","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of guanidinoacetic acid in the urine, normalized for urine concentration, is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034888","HPO_Name__c":"Decreased urine guanidinoacetic acid level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35704","HPO_Frequency__c":"Frequent (30-79%)","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:35704","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Concentration of creatinine in the cerebrrospinal fluid below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034597","HPO_Name__c":"Decreased CSF creatinine concentration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35704","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35704","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35704","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:35704","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An reduction below the normal range of creatine in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034292","HPO_Name__c":"Reduced circulating creatine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35704","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35704","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The amount of creatinine in the urine, normalized for urine concentration, is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000115","HPO_Name__c":"Decreased urine creatinine level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35704","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35704","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35704","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally reduced amount of creatinine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012101","HPO_Synonym__c":"Decreased serum creatinine; Low blood creatinine level; Reduced creatinine levels","HPO_Name__c":"Decreased serum creatinine","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["agat deficiency"," ccds3"," cerebral creatine deficiency syndrome 3"," cerebral creatine deficiency syndrome type 3"," creatine deficiency syndrome due to agat deficiency"," creatine deficiency syndrome due to arginine:glycine amidinotransferase deficiency"," disorder of glycine amidinotransferase activity"," gatm deficiency"," glycine amidinotransferase activity disease"," l-arginine:glycine amidinotransferase deficiency"]}