{"Name":"Mitochondrial DNA depletion syndrome 8a","DiseaseID__c":"GARD:0013200","id":13200,"encodedName":"mitochondrial-dna-depletion-syndrome-8a","IsDeleted":false,"Disease_Name_Full__c":"Mitochondrial DNA depletion syndrome 8a","Xref_IDs__c":"765100000; C2749861; DOID:0070331; DOID:0080127; MEDGEN:412815; MONDO:0012792; OMIM:612075; ORPHA:255235","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012792","Disease_Description__c":"Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene.","GARD_Name__c":"Mitochondrial DNA depletion syndrome 8a","GARD_Synonym__c":"mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy); mitochondrial dna depletion syndrome 8a encephalomyopathic type with renal tubulopathy; mitochondrial dna depletion syndrome caused by mutation in rrm2b; mitochondrial dna depletion syndrome type 8a; mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy; mitochondrial dna depletion syndrome, encephalomyopathic form, with renal tubulopathy; mitochondrial dna depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive; mtdna depletion syndrome, encephalomyopathic form with renal tubulopathy; mtdps8a; ribonucleotide reductase regulatory tp53 inducible subunit m2b-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy; rrm2b mitochondrial dna depletion syndrome; rrm2b-related mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy is a rare mitochondrial disorder that affects many parts of the body. Mitochondrial disorders occur when the structures that produce energy for our cells malfunction. This disease usually starts in newborns or infants and can cause weak muscles, slow growth, lactic acid buildup, and developmental delays. The disease can be severe and lead to breathing and digestive problems that may be fatal in infancy. Some babies with the disease may have milder symptoms and live into childhood. Other symptoms may include hearing loss, small head size, seizures, vision problems, and kidney problems.","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:255235","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012792","ORPHANET_ID__c":"ORPHA:255235","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de depleción del adn mitocondrial, forma encefalomiopática con tubulopatía renal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de depleción del adn mitocondrial, forma encefalomiopática con tubulopatía renal","Spanish_GARD_Synonym__c":"síndrome de depleción del adnmt, forma encefalomiopática con tubulopatía renal","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":"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy is a rare mitochondrial disorder that affects many parts of the body. Mitochondrial disorders occur when the structures that produce energy for our cells malfunction. This disease usually starts in newborns or infants and can cause weak muscles, slow growth, lactic acid buildup, and developmental delays. The disease can be severe and lead to breathing and digestive problems that may be fatal in infancy. Some babies with the disease may have milder symptoms and live into childhood. Other symptoms may include hearing loss, small head size, seizures, vision problems, and kidney problems.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy); mitochondrial dna depletion syndrome 8a encephalomyopathic type with renal tubulopathy; mitochondrial dna depletion syndrome caused by mutation in rrm2b; mitochondrial dna depletion syndrome type 8a; mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy; mitochondrial dna depletion syndrome, encephalomyopathic form, with renal tubulopathy; mitochondrial dna depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive; mtdna depletion syndrome, encephalomyopathic form with renal tubulopathy; mtdps8a; ribonucleotide reductase regulatory tp53 inducible subunit m2b-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy; rrm2b mitochondrial dna depletion syndrome; rrm2b-related mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy","Name":"Mitochondrial DNA depletion syndrome 8a","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":"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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"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":"Neonatal","Provided_By__c":"ORPHA:255235"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:255235"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013200","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK195854","Source__c":"Gene Review","Xref__c":"NBK195854"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070331","Source__c":"MONDO:0012792","Xref__c":"DOID:0070331"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080127","Source__c":"MONDO:0012792","Xref__c":"DOID:0080127"},{"URL__c":"https://www.omim.org/entry/612075","Source__c":"C2749861; MONDO:0012792; ORPHA:255235","Xref__c":"OMIM:612075"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=412815","Source__c":"C2749861","Xref__c":"MEDGEN:412815"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2749861","Source__c":"C2749861","Xref__c":"C2749861"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=765100000","Source__c":"C2749861; MONDO:0012792","Xref__c":"765100000"},{"URL__c":"https://www.orpha.net/en/disease/detail/255235","Source__c":"C2749861; MONDO:0012792; ORPHA:255235","Xref__c":"ORPHA:255235"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012792","Source__c":"GARD:0013200","Xref__c":"MONDO:0012792"},{"URL__c":"https://medlineplus.gov/genetics/condition/rrm2b-related-mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-renal-tubulopathy","Source__c":"GARD:0013200","Xref__c":"https://medlineplus.gov/genetics/condition/rrm2b-related-mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-renal-tubulopathy"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RRM2B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rrm2b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:612075","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":"OMIM:612075","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612075","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612075","Feature__r":{"HPO_Description__c":"Paralysis of the external ocular muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000544","HPO_Synonym__c":"Chronic progressive external ophthalmoplegia; CPEO; Ophthalmoplegia externa; Paralysis or weakness of muscles within or surrounding outer part of eye; Progressive paralysis or weakness of muscles of eye motility; Progressive paralysis or weakness of muscles of eye movement","HPO_Name__c":"External ophthalmoplegia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612075","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612075","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002133","HPO_Synonym__c":"Prolonged seizure; Repeated seizure without recovery; Repeated seizures without recovery between them","HPO_Name__c":"Status epilepticus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612075","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000114","HPO_Synonym__c":"Proximal renal tubule defect; Proximal renal tubulopathy; Proximal tubular defect; Proximal tubule dysfunction; Selective proximal tubular damage","HPO_Name__c":"Proximal tubulopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612075","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002344","HPO_Synonym__c":"Neurologic deterioration; Neurologic deterioration, progressive; Progressive mental deterioration; Progressive neurodegeneration; Worsening neurological symptoms","HPO_Name__c":"Progressive neurologic deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612075","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002066","HPO_Synonym__c":"Ataxia of gait; Ataxic gait; Inability to coordinate movements when walking","HPO_Name__c":"Gait ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612075","Feature__r":{"HPO_Description__c":"An increased concentration of an amino acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003355","HPO_Synonym__c":"High urine amino acid levels; Hyperaminoaciduria; Increased levels of animo acids in urine","HPO_Name__c":"Aminoaciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:612075","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612075","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008936","HPO_Synonym__c":"Low muscle tone in trunk; Muscular hypotonia of the trunk; Truncal hypotonia","HPO_Name__c":"Axial hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612075","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612075","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:612075","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612075","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612075","HPO_Frequency__c":"Occasional (5-29%)","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:612075","Feature__r":{"HPO_Description__c":"Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004326","HPO_Synonym__c":"Wasting syndrome","HPO_Name__c":"Cachexia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612075","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A severe form of lactic acidemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004900","HPO_Name__c":"Severe lactic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:612075","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:612075","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612075","HPO_Frequency__c":"Occasional (5-29%)","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Neurology","Gastroenterology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Neurology","Gastroenterology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"Account":["Mitochondrial"]},"synonyms":["mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy)"," mitochondrial dna depletion syndrome 8a encephalomyopathic type with renal tubulopathy"," mitochondrial dna depletion syndrome caused by mutation in rrm2b"," mitochondrial dna depletion syndrome type 8a"," mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy"," mitochondrial dna depletion syndrome, encephalomyopathic form, with renal tubulopathy"," mitochondrial dna depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive"," mtdna depletion syndrome, encephalomyopathic form with renal tubulopathy"," mtdps8a"," ribonucleotide reductase regulatory tp53 inducible subunit m2b-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy"," rrm2b mitochondrial dna depletion syndrome"," rrm2b-related mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy"]}