{"Name":"D-2-hydroxyglutaric aciduria","DiseaseID__c":"GARD:0005661","id":5661,"encodedName":"d-2-hydroxyglutaric-aciduria","IsDeleted":false,"Disease_Name_Full__c":"D-2-hydroxyglutaric aciduria","Xref_IDs__c":"237960000; C1833429; DOID:0050575; HP:0012321; MEDGEN:322192; MONDO:0010924; OMIMPS:600721; ORPHA:79315","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":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":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0010924","Disease_Description__c":"D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.","GARD_Name__c":"D-2-hydroxyglutaric aciduria","GARD_Synonym__c":"d-2-hga; d-2-hydroxyglutaric acidemia; d-2-hydroxyglutaric aciduria type 1; d-2(oh) glutaric aciduria","Curated_Disease_Description_Source__c":"GARD:0005661","Curated_Disease_Description__c":"D-2-alpha hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition include developmental delay, seizures, hypotonia, and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. D-2-alpha hydroxyglutaric aciduria is caused by changes in the D2HGDH gene and is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:79315","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0010924","ORPHANET_ID__c":"ORPHA:79315","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aciduria d-2-hidroxiglutárica","Spanish_Description_Source__c":"ORPHA:79315","Spanish_Description__c":"La aciduria D-2-hidroxiglutárica (D-2-HGA) es una forma neurológica rara clínicamente variable de la aciduria 2-hidroxiglutárica (ver este término) caracterizada bioquímicamente por la elevación de ácido D-2-hidroxiglutárico (D-2-HG) en la orina, plasma y líquido cefalorraquídeo.","Spanish_Disease_Name__c":"aciduria d-2-hidroxiglutárica","Spanish_GARD_Synonym__c":"acidemia d-2-hidroxiglutárica; d-2-hga","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":"D-2-alpha hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition include developmental delay, seizures, hypotonia, and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. D-2-alpha hydroxyglutaric aciduria is caused by changes in the D2HGDH gene and is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0005661","GARD_Synonym__c":"d-2-hga; d-2-hydroxyglutaric acidemia; d-2-hydroxyglutaric aciduria type 1; d-2(oh) glutaric aciduria","Name":"D-2-hydroxyglutaric aciduria","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Organic Acidemia Association","Website__c":"https://oaanews.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:79315"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79315"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:79315"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1833429"},{"Type__c":"GTR","Curie__c":"MEDGEN:C3152055"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005661","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=322192","Source__c":"C1833429","Xref__c":"MEDGEN:322192"},{"URL__c":"https://www.orpha.net/en/disease/detail/79315","Source__c":"C1833429; MONDO:0010924; ORPHA:79315","Xref__c":"ORPHA:79315"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237960000","Source__c":"C1833429; MONDO:0010924","Xref__c":"237960000"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS600721","Source__c":"MONDO:0010924","Xref__c":"OMIMPS:600721"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050575","Source__c":"MONDO:0010924","Xref__c":"DOID:0050575"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1833429","Source__c":"C1833429","Xref__c":"C1833429"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0012321","Source__c":"C1833429","Xref__c":"HP:0012321"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010924","Source__c":"GARD:0005661","Xref__c":"MONDO:0010924"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IDH2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/idh2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"D2HGDH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/d2hgdh","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79315","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in size of the ventricular system of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002119","HPO_Synonym__c":"Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation","HPO_Name__c":"Ventriculomegaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79315","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of D-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000246","HPO_Name__c":"Elevated CSF D-2-hydroxyglutaric acid concentration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79315","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001638","HPO_Synonym__c":"Disease of the heart muscle","HPO_Name__c":"Cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79315","HPO_Frequency__c":"Frequent (30-79%)","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:79315","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Delayed myelination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012448","HPO_Name__c":"Delayed myelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79315","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:79315","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040146","HPO_Name__c":"D-2-hydroxyglutaric acidemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79315","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010307","HPO_Name__c":"Stridor","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79315","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001298","HPO_Name__c":"Encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79315","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of 2-hydroxyglutaric acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012321","HPO_Name__c":"D-2-hydroxyglutaric aciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79315","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:79315","HPO_Frequency__c":"Occasional (5-29%)","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:79315","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100704","HPO_Synonym__c":"Cortical blindness; Cortical visual impairment; Cortical/cerebral visual impairment; CVI","HPO_Name__c":"Cerebral visual impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["d-2-hga"," d-2-hydroxyglutaric acidemia"," d-2-hydroxyglutaric aciduria type 1"," d-2(oh) glutaric aciduria"]}