{"Name":"Combined oxidative phosphorylation defect type 2","DiseaseID__c":"GARD:0017232","id":17232,"encodedName":"combined-oxidative-phosphorylation-defect-type-2","IsDeleted":false,"Disease_Name_Full__c":"Combined oxidative phosphorylation defect type 2","Xref_IDs__c":"764943000; C1864843; C566468; DOID:0111483; MEDGEN:400626; MONDO:0012510; OMIM:610498; ORPHA:254920","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":1,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012510","Disease_Description__c":"Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.","GARD_Name__c":"Combined oxidative phosphorylation defect type 2","GARD_Synonym__c":"combined oxidative phosphorylation deficiency caused by mutation in mrps16; combined oxidative phosphorylation deficiency type 2; corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis; coxpd2; coxpd2 - combined oxidative phosphorylation defect type 2; mrps16 combined oxidative phosphorylation deficiency","Curated_Disease_Description_Source__c":"MONDO:0012510","Curated_Disease_Description__c":"Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:254920","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012510","ORPHANET_ID__c":"ORPHA:254920","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia combinada de la fosforilación oxidativa tipo 2","Spanish_Description_Source__c":"ORPHA:254920","Spanish_Description__c":"La deficiencia combinada de la fosforilación oxidativa tipo 2 es un trastorno mitocondrial poco frecuente, debido a un defecto en la síntesis de proteínas mitocondriales. Está caracterizada por un retraso grave del crecimiento intrauterino, edema neonatal en las extremidades e hinchazón de la piel del cuello (hidrops), defectos del desarrollo cerebral (agenesia del cuerpo calloso, ventriculomegalia), braquidactilia, rasgos faciales dismórficos con orejas de implantación baja, acidosis láctica neonatal grave e intratable, con letargia, hipotonía, ausencia de movimientos espontáneos y desenlace fatal. Tambien se ha registrado una marcada disminución de la actividad del complejo I, II + III y IV en músculo e hígado.","Spanish_Disease_Name__c":"deficiencia combinada de la fosforilación oxidativa tipo 2","Spanish_GARD_Synonym__c":"coxpd2","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":"Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.","Curated_Disease_Description_Source__c":"MONDO:0012510","GARD_Synonym__c":"combined oxidative phosphorylation deficiency caused by mutation in mrps16; combined oxidative phosphorylation deficiency type 2; corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis; coxpd2; coxpd2 - combined oxidative phosphorylation defect type 2; mrps16 combined oxidative phosphorylation deficiency","Name":"Combined oxidative phosphorylation defect type 2","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"United Mitochondrial Disease Foundation","Website__c":"https://www.umdf.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":"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":"Neonatal","Provided_By__c":"ORPHA:254920"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764943000","Source__c":"C1864843; MONDO:0012510","Xref__c":"764943000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=400626","Source__c":"C1864843","Xref__c":"MEDGEN:400626"},{"URL__c":"https://www.omim.org/entry/610498","Source__c":"C1864843; MONDO:0012510; ORPHA:254920","Xref__c":"OMIM:610498"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864843","Source__c":"C1864843","Xref__c":"C1864843"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111483","Source__c":"MONDO:0012510","Xref__c":"DOID:0111483"},{"URL__c":"https://www.orpha.net/en/disease/detail/254920","Source__c":"C1864843; MONDO:0012510; ORPHA:254920","Xref__c":"ORPHA:254920"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566468","Source__c":"MONDO:0012510","Xref__c":"C566468"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012510","Source__c":"GARD:0017232","Xref__c":"MONDO:0012510"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MRPS16","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:610498","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008347","HPO_Name__c":"Decreased activity of mitochondrial complex IV","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:610498","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:610498","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610498","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003128","HPO_Synonym__c":"Hyperlacticacidemia; Increased lactate in body; Lactic acidemia; Lacticacidemia; Lacticacidosis","HPO_Name__c":"Lactic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:610498","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001254","HPO_Synonym__c":"Dullness; Inaction; Inactivity; Languor; Lethargy; Slowness; Torpor","HPO_Name__c":"Lethargy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610498","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001643","HPO_Synonym__c":"Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus","HPO_Name__c":"Patent ductus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610498","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010952","HPO_Name__c":"Mild fetal ventriculomegaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_Ultrasound_Fetal"}},{"Provided_By__c":"OMIM:610498","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001518","HPO_Synonym__c":"Birth weight less than 10th percentile; Low birth weight; Small for gestational age","HPO_Name__c":"Small for gestational age","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610498","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:610498","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":"OMIM:610498","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001274","HPO_Synonym__c":"Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Callosal agenesis; Corpus callosum agenesis; Dysplastic or absent corpus callosum","HPO_Name__c":"Agenesis of corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610498","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":"OMIM:610498","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002375","HPO_Synonym__c":"Decreased muscle movement; Decreased spontaneous movement; Decreased spontaneous movements","HPO_Name__c":"Hypokinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610498","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011925","HPO_Synonym__c":"Decreased activity of mitochondrial complex V; Mitochondrial complex V deficiency","HPO_Name__c":"Decreased activity of mitochondrial ATP synthase complex","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:610498","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610498","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610498","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:610498","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610498","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excess skin around the neck, often lying in horizontal folds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005989","HPO_Synonym__c":"Excess neck skin; Excess skin over the neck; Excessive nuchal skin; Redundant neck skin; Redundant nuchal skin; Redundant skin folds of neck; Redundant skin over the neck","HPO_Name__c":"Redundant neck skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Pediatrics"],"Account":["Mitochondrial"]},"synonyms":["combined oxidative phosphorylation deficiency caused by mutation in mrps16"," combined oxidative phosphorylation deficiency type 2"," corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis"," coxpd2"," coxpd2 - combined oxidative phosphorylation defect type 2"," mrps16 combined oxidative phosphorylation deficiency"]}