{"Name":"Combined oxidative phosphorylation deficiency 29","DiseaseID__c":"GARD:0017863","id":17863,"encodedName":"combined-oxidative-phosphorylation-deficiency-29","IsDeleted":false,"Disease_Name_Full__c":"Combined oxidative phosphorylation deficiency 29","Xref_IDs__c":"C5567607; DOID:0111501; MEDGEN:1799030; MONDO:0014781; OMIM:616811; ORPHA:478029","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014781","Disease_Description__c":"Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene.","GARD_Name__c":"Combined oxidative phosphorylation deficiency 29","GARD_Synonym__c":"combined oxidative phosphorylation defect type 29; combined oxidative phosphorylation deficiency 29; coxpd29; combined oxidative phosphorylation deficiency caused by mutation in txn2; combined oxidative phosphorylation deficiency type 29; coxpd29; coxpd29 - combined oxidative phosphorylation defect type 29; txn2 combined oxidative phosphorylation deficiency","Curated_Disease_Description_Source__c":"ORPHA:478029","Curated_Disease_Description__c":"A rare mitochondrial oxidative phosphorylation disorder characterized by microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction, and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:478029","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014781","ORPHANET_ID__c":"ORPHA:478029","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia combinada de la fosforilación oxidativa tipo 29","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia combinada de la fosforilación oxidativa tipo 29","Spanish_GARD_Synonym__c":"coxpd29","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 rare mitochondrial oxidative phosphorylation disorder characterized by microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction, and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination.","Curated_Disease_Description_Source__c":"ORPHA:478029","GARD_Synonym__c":"combined oxidative phosphorylation defect type 29; combined oxidative phosphorylation deficiency 29; coxpd29; combined oxidative phosphorylation deficiency caused by mutation in txn2; combined oxidative phosphorylation deficiency type 29; coxpd29; coxpd29 - combined oxidative phosphorylation defect type 29; txn2 combined oxidative phosphorylation deficiency","Name":"Combined oxidative phosphorylation deficiency 29","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":"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":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:478029"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/478029","Source__c":"C5567607; MONDO:0014781; ORPHA:478029","Xref__c":"ORPHA:478029"},{"URL__c":"https://www.omim.org/entry/616811","Source__c":"C5567607; MONDO:0014781; ORPHA:478029","Xref__c":"OMIM:616811"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5567607","Source__c":"C5567607","Xref__c":"C5567607"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1799030","Source__c":"C5567607","Xref__c":"MEDGEN:1799030"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111501","Source__c":"MONDO:0014781","Xref__c":"DOID:0111501"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014781","Source__c":"GARD:0017863","Xref__c":"MONDO:0014781"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1172843003","Source__c":"C5567607","Xref__c":"1172843003"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TXN2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:478029","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002151","HPO_Synonym__c":"Increased blood lactate; Increased serum lactate","HPO_Name__c":"Increased circulating lactate concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:478029","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased concentration of lactate in the cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002490","HPO_Synonym__c":"Hyperlactatorachia; Increased cerebrospinal fluid lactate; Increased CSF lactic acid","HPO_Name__c":"Increased CSF lactate","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:478029","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diffuse unlocalised atrophy affecting the cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100275","HPO_Name__c":"Diffuse cerebellar atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478029","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Feeding problem necessitating gastrojejunal tube feeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030884","HPO_Synonym__c":"Gastro-jejunal tube feeding in infancy","HPO_Name__c":"Gastrojejunal tube feeding in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478029","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased concentration of protein in the cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002922","HPO_Synonym__c":"Cerebrospinal fluid protein increased; Cerebrospinal fluid with increased protein; Elevated cerebrospinal fluid protein; Elevated csf protein; Hyperproteinorrhachia; Increased CSF protein; Increased protein in csf; Spinal fluid protein elevated","HPO_Name__c":"Increased CSF protein concentration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:478029","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002283","HPO_Synonym__c":"Diffuse brain atrophy; Generalized brain atrophy; Generalized brain degeneration; Generalized cerebral atrophy","HPO_Name__c":"Global brain atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478029","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Progressive loss of neural cells and tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002180","HPO_Synonym__c":"Ongoing loss of nerve cells","HPO_Name__c":"Neurodegeneration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478029","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000488","HPO_Synonym__c":"Noninflammatory retina disease","HPO_Name__c":"Retinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478029","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011924","HPO_Name__c":"Decreased activity of mitochondrial complex III","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:478029","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011923","HPO_Name__c":"Decreased activity of mitochondrial complex I","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:478029","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe delay in the achievement of motor or mental milestones in the domains of development of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011344","HPO_Synonym__c":"Global developmental delay, severe","HPO_Name__c":"Severe global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478029","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002579","HPO_Synonym__c":"GI dysmotility","HPO_Name__c":"Gastrointestinal dysmotility","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478029","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003739","HPO_Name__c":"Myoclonic spasms","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478029","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002416","HPO_Synonym__c":"Subependymal germinolytic cyst; Subependymal pseudocyst","HPO_Name__c":"Subependymal cysts","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478029","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001138","HPO_Synonym__c":"Damaged optic nerve","HPO_Name__c":"Optic neuropathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478029","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002069","HPO_Synonym__c":"Bilateral convulsive seizures; Generalised tonic-clonic seizure (without specification of onset); Generalized convulsion; Generalized tonic-clonic seizure (without specification of onset); Grand mal; Grand mal seizures; Seizures, tonic-clonic; Tonic-clonic convulsion; Tonic-clonic convulsions","HPO_Name__c":"Bilateral tonic-clonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478029","HPO_Frequency__c":"Very frequent (80-99%)","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:478029","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003808","HPO_Synonym__c":"Abnormal muscle tone","HPO_Name__c":"Abnormal muscle tone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478029","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A functional abnormality of the autonomic nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012332","HPO_Synonym__c":"Autonomic dysfunction; Autonomic dysregulation; Dysautonomia","HPO_Name__c":"Abnormal autonomic nervous system physiology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478029","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040078","HPO_Name__c":"Axonal degeneration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478029","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011451","HPO_Synonym__c":"Congenital decreased head circumference; Congenital microcephaly; Congenital small skull; Decreased head circumference present at birth; Microcephaly present at birth; Small cranium present at birth","HPO_Name__c":"Primary microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:478029","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deficit in coordination of muscle movements. Coordination is defined as the orchestrated movement of multiple body parts as required to accomplish intended actions, like walking.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002311","HPO_Synonym__c":"Difficulties in coordination; Incoordination; Incoordination of limb movements; Limb incoordination; Poor coordination; Poor motor coordination","HPO_Name__c":"Incoordination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Mitochondrial"]},"synonyms":["combined oxidative phosphorylation defect type 29"," combined oxidative phosphorylation deficiency 29"," coxpd29"," combined oxidative phosphorylation deficiency caused by mutation in txn2"," combined oxidative phosphorylation deficiency type 29"," coxpd29"," coxpd29 - combined oxidative phosphorylation defect type 29"," txn2 combined oxidative phosphorylation deficiency"]}