{"Name":"Sengers syndrome","DiseaseID__c":"GARD:0001142","id":1142,"encodedName":"sengers-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Sengers syndrome","Xref_IDs__c":"717812000; C1859317; C538280; DOID:0080132; MEDGEN:395228; MONDO:0008922; OMIM:212350; ORPHA:1369","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":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008922","Disease_Description__c":"Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.","GARD_Name__c":"Sengers syndrome","GARD_Synonym__c":"cardiomyopathy and cataract; congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome; mitochondrial dna depletion syndrome 10; mitochondrial dna depletion syndrome 10 (cardiomyopathic type)","Curated_Disease_Description_Source__c":"MONDO:0008922","Curated_Disease_Description__c":"Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.","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:1369","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008922","ORPHANET_ID__c":"ORPHA:1369","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de catarata congénita-miocardiopatía hipertrófica-miopatía mitocondrial","Spanish_Description_Source__c":"ORPHA:1369","Spanish_Description__c":"El síndrome de catarata congénita - miocardiopatía hipertrófica - miopatía mitocondrial (MCC) es una enfermedad mitocondrial (ver este término) caracterizada por cataratas, miocardiopatía hipertrófica, debilidad muscular y acidosis láctica después del ejercicio.","Spanish_Disease_Name__c":"síndrome de catarata congénita-miocardiopatía hipertrófica-miopatía mitocondrial","Spanish_GARD_Synonym__c":null,"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":"Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.","Curated_Disease_Description_Source__c":"MONDO:0008922","GARD_Synonym__c":"cardiomyopathy and cataract; congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome; mitochondrial dna depletion syndrome 10; mitochondrial dna depletion syndrome 10 (cardiomyopathic type)","Name":"Sengers syndrome","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":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1369"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1369"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1859317"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001142","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK487393","Source__c":"Gene Review","Xref__c":"NBK487393"},{"URL__c":"https://www.orpha.net/en/disease/detail/1369","Source__c":"C1859317; MONDO:0008922; ORPHA:1369","Xref__c":"ORPHA:1369"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717812000","Source__c":"C1859317; MONDO:0008922","Xref__c":"717812000"},{"URL__c":"https://www.omim.org/entry/212350","Source__c":"C1859317; MONDO:0008922; ORPHA:1369","Xref__c":"OMIM:212350"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859317","Source__c":"C1859317","Xref__c":"C1859317"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538280","Source__c":"MONDO:0008922","Xref__c":"C538280"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=395228","Source__c":"C1859317","Xref__c":"MEDGEN:395228"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080132","Source__c":"MONDO:0008922","Xref__c":"DOID:0080132"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008922","Source__c":"GARD:0001142","Xref__c":"MONDO:0008922"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AGK","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1369","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001639","HPO_Synonym__c":"Cardiomyopathy, hypertrophic; Enlarged and thickened heart muscle; HCM","HPO_Name__c":"Hypertrophic cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001131","HPO_Name__c":"Corneal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1369","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1369","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000512","HPO_Synonym__c":"Abnormal electroretinography; Abnormal ERG; ERG abnormal","HPO_Name__c":"Abnormal electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1369","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1369","HPO_Frequency__c":"Very frequent (80-99%)","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:1369","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":"ORPHA:1369","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1369","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Cardiology","Ophthalmology","Neuro-Ophthalmology","Anterior segment of Eye","Pediatrics"],"Account":["Mitochondrial","Cardiomyopathy"]},"synonyms":["cardiomyopathy and cataract"," congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome"," congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome"," mitochondrial dna depletion syndrome 10"," mitochondrial dna depletion syndrome 10 (cardiomyopathic type)"]}