{"Name":"Progressive encephalopathy with leukodystrophy due to DECR deficiency","DiseaseID__c":"GARD:0010327","id":10327,"encodedName":"progressive-encephalopathy-with-leukodystrophy-due-to-decr-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Progressive encephalopathy with leukodystrophy due to DECR deficiency","Xref_IDs__c":"C1857252; C565624; MEDGEN:346552; MONDO:0014464; OMIM:616034; ORPHA:431361","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":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0014464","Disease_Description__c":"Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.","GARD_Name__c":"Progressive encephalopathy with leukodystrophy due to DECR deficiency","GARD_Synonym__c":"2,4-dienoyl-coa reductase deficiency; decr deficiency with hyperlysinemia; deficiency of 2,4-dienoyl-coa reductase; deficiency of 2,4-dienoyl-coenzyme a reductase","Curated_Disease_Description_Source__c":"GARD:0010327","Curated_Disease_Description__c":"Progressive encephalopathy with leukodystrophy due to DECR deficiency is associated with hypotonia and respiratory acidosis in infancy. This condition may be associated with the DECR1 gene and likely has an autosomal recessive pattern of inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:431361","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014464","ORPHANET_ID__c":"ORPHA:431361","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Encefalopatía progresiva con leucodistrofia por deficiencia de decr","Spanish_Description_Source__c":"ORPHA:431361","Spanish_Description__c":"La encefalopatía progresiva con leucodistrofia por deficiencia de <i>DECR</i> es una enfermedad mitocondrial poco frecuente que se presenta con hipotonía neonatal, anomalías del sistema nervioso central (ventriculomegalia, hipoplasia del cuerpo calloso, atrofia cerebelosa), microcefalia adquirida, falta de crecimiento, retraso del desarrollo y acidosis láctica intermitente provocada por estrés catabólico (por ejemplo, infección). La hiperlisinemia y la elevación de C10:2 carnitina pueden ser detectadas en plasma. Durante el curso de la enfermedad, también puede desarrollarse epilepsia, ataxia cerebelosa, acidosis renal tubular, encefalopatía severa, distonía, tetraplejía espástica y otras complicaciones.","Spanish_Disease_Name__c":"encefalopatía progresiva con leucodistrofia por deficiencia de decr","Spanish_GARD_Synonym__c":"deficiencia de 2,4-dienoil-coa reductasa; deficiencia de decr con hiperlisinemia","Category_Linearization__c":"ORPHA:98006","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":"Progressive encephalopathy with leukodystrophy due to DECR deficiency is associated with hypotonia and respiratory acidosis in infancy. This condition may be associated with the DECR1 gene and likely has an autosomal recessive pattern of inheritance.","Curated_Disease_Description_Source__c":"GARD:0010327","GARD_Synonym__c":"2,4-dienoyl-coa reductase deficiency; decr deficiency with hyperlysinemia; deficiency of 2,4-dienoyl-coa reductase; deficiency of 2,4-dienoyl-coenzyme a reductase","Name":"Progressive encephalopathy with leukodystrophy due to DECR deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FOD (Fatty Oxidation Disorder) Family Support Group","Website__c":"https://fodsupport.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":"Leukodystrophy","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Leukodystrophies are a group of genetic neurological diseases that affect the white matter of the brain and spinal cord.","curated_tag_name":"Leukodystrophies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:431361"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:431361"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Secondary","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/De-Red"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1857252"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010327","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/616034","Source__c":"C1857252; MONDO:0014464; ORPHA:431361","Xref__c":"OMIM:616034"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857252","Source__c":"C1857252","Xref__c":"C1857252"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=346552","Source__c":"C1857252","Xref__c":"MEDGEN:346552"},{"URL__c":"https://www.orpha.net/en/disease/detail/431361","Source__c":"C1857252; MONDO:0014464; ORPHA:431361","Xref__c":"ORPHA:431361"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565624","Source__c":"MONDO:0014464","Xref__c":"C565624"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=444944006","Source__c":"C1857252","Xref__c":"444944006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014464","Source__c":"GARD:0010327","Xref__c":"MONDO:0014464"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NADK2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:431361","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration of carnitine in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010967","HPO_Name__c":"Abnormal circulating carnitine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:431361","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Concentration of carnitine in the blood circulation below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003234","HPO_Synonym__c":"Decreased plasma carnitine","HPO_Name__c":"Decreased circulating carnitine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:431361","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001266","HPO_Synonym__c":"Choreoathetoid movements","HPO_Name__c":"Choreoathetosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431361","HPO_Frequency__c":"Frequent (30-79%)","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; 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Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431361","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001319","HPO_Synonym__c":"Hypotonia, in neonatal onset; Hypotonia, neonatal; Low muscle tone, in neonatal onset","HPO_Name__c":"Neonatal hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431361","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of lysine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002161","HPO_Synonym__c":"Elevated blood lysine","HPO_Name__c":"Hyperlysinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:431361","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011951","HPO_Name__c":"Aspiration pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431361","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003206","HPO_Name__c":"Decreased activity of NADPH oxidase","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:431361","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431361","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002470","HPO_Name__c":"Nonprogressive cerebellar ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431361","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Anomalous movements of the eyes that occur without the subject wanting them to happen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012547","HPO_Name__c":"Abnormal involuntary eye movements","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431361","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of lactic acidemia that occurs in relation to stress or infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004897","HPO_Name__c":"Stress/infection-induced lactic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:431361","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002079","HPO_Synonym__c":"Corpus callosum hypoplasia; Hypoplasia of corpus callosum; Hypoplastic corpus callosum; Underdevelopment of part of brain called corpus callosum","HPO_Name__c":"Hypoplasia of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431361","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excretion of non-amino organic acids in urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001992","HPO_Name__c":"Organic aciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:431361","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001272","HPO_Synonym__c":"Atrophic cerebellum; Degeneration of cerebellum","HPO_Name__c":"Cerebellar atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431361","HPO_Frequency__c":"Frequent (30-79%)","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:431361","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002415","HPO_Synonym__c":"Degeneration of white matter of brain","HPO_Name__c":"Leukodystrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431361","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of inflammation in the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001733","HPO_Synonym__c":"Pancreatic inflammation","HPO_Name__c":"Pancreatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431361","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431361","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002448","HPO_Name__c":"Progressive encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431361","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010536","HPO_Synonym__c":"Central sleep apnoea","HPO_Name__c":"Central sleep apnea","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:431361","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001947","HPO_Synonym__c":"Accumulation of acid in body due to kidney problem","HPO_Name__c":"Renal tubular acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:431361","HPO_Frequency__c":"Frequent (30-79%)","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","Leukodystrophy"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Leukodystrophy"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Leukodystrophy"]},"synonyms":["2,4-dienoyl-coa reductase deficiency"," decr deficiency with hyperlysinemia"," deficiency of 2,4-dienoyl-coa reductase"," deficiency of 2,4-dienoyl-coenzyme a reductase"]}