{"Name":"Deafness-encephaloneuropathy-obesity-valvulopathy syndrome","DiseaseID__c":"GARD:0017230","id":17230,"encodedName":"deafness-encephaloneuropathy-obesity-valvulopathy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Deafness-encephaloneuropathy-obesity-valvulopathy syndrome","Xref_IDs__c":"C3553354; DOID:0070239; MEDGEN:766268; MONDO:0013837; OMIM:614651; ORPHA:254898","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013837","Disease_Description__c":"Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.","GARD_Name__c":"Deafness-encephaloneuropathy-obesity-valvulopathy syndrome","GARD_Synonym__c":"coenzyme q10 deficiency, primary, type 2; hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome; pdss1-related coenzyme q10 deficiency","Curated_Disease_Description_Source__c":"MONDO:0013837","Curated_Disease_Description__c":"Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.","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:254898","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013837","ORPHANET_ID__c":"ORPHA:254898","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de sordera-encefaloneuropatía-obesidad-valvulopatía","Spanish_Description_Source__c":"ORPHA:254898","Spanish_Description__c":"El síndrome de sordera-encefaloneuropatía-obesidad-valvulopatía es una enfermedad mitocondrial poco frecuente con una marcada variabilidad clínica caracterizada típicamente por encefalomiopatía, enfermedad renal (síndrome nefrótico), atrofia óptica, sordera de inicio temprano, pancitopenia, obesidad y enfermedad cardíaca (valvulopatía). También se ha asociado a macrocefalia, discapacidad intelectual, hiperlactacidemia con la relación lactato/piruvato elevada, diabetes insulinodependiente, livedo reticularis, disfunción hepática y crisis.","Spanish_Disease_Name__c":"síndrome de sordera-encefaloneuropatía-obesidad-valvulopatía","Spanish_GARD_Synonym__c":"síndrome de hipoacusia-encefaloneuropatía-obesidad-valvulopatía","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":"Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.","Curated_Disease_Description_Source__c":"MONDO:0013837","GARD_Synonym__c":"coenzyme q10 deficiency, primary, type 2; hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome; pdss1-related coenzyme q10 deficiency","Name":"Deafness-encephaloneuropathy-obesity-valvulopathy syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"MitoAction","Website__c":"https://www.mitoaction.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":"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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:254898"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:254898"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK410087","Source__c":"Gene Review","Xref__c":"NBK410087"},{"URL__c":"https://www.orpha.net/en/disease/detail/254898","Source__c":"C3553354; MONDO:0013837","Xref__c":"ORPHA:254898"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070239","Source__c":"MONDO:0013837","Xref__c":"DOID:0070239"},{"URL__c":"https://www.omim.org/entry/614651","Source__c":"C3553354; MONDO:0013837; ORPHA:254898","Xref__c":"OMIM:614651"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=766268","Source__c":"C3553354","Xref__c":"MEDGEN:766268"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3553354","Source__c":"C3553354","Xref__c":"C3553354"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013837","Source__c":"GARD:0017230","Xref__c":"MONDO:0013837"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PDSS1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614651","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001284","HPO_Synonym__c":"Absent deep tendon reflexes; Absent tendon reflexes; Deep tendon reflexes absent; Loss of deep tendon reflexes; Lost deep tendon reflexes","HPO_Name__c":"Areflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614651","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"}},{"Provided_By__c":"OMIM:614651","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":"OMIM:614651","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614651","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614651","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002092","HPO_Synonym__c":"Increased blood pressure in blood vessels of lungs; Pulmonary artery hypertension","HPO_Name__c":"Pulmonary arterial hypertension","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614651","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001653","HPO_Synonym__c":"Mitral incompetence; Mitral insufficiency; Mitral valve insufficiency; Mitral valve regurgitation","HPO_Name__c":"Mitral regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614651","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001659","HPO_Synonym__c":"Aortic insufficiency; Aortic valve regurgitation","HPO_Name__c":"Aortic regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614651","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032653","HPO_Name__c":"Elevated lactate:pyruvate ratio","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:614651","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614651","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033505","HPO_Name__c":"Livedo reticularis","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614651","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614651","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614651","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100739","HPO_Synonym__c":"Binge and purge","HPO_Name__c":"Bulimia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614651","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased body weight with a body mass index of 25-29.9 kg per square meter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025502","HPO_Name__c":"Overweight","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","Epilepsy","Neuromuscular medicine","Pediatrics"],"Account":["Mitochondrial","Peripheral Neuropathy","Epilepsy"]},"synonyms":["coenzyme q10 deficiency, primary, type 2"," hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome"," pdss1-related coenzyme q10 deficiency"]}