{ "disease_id": "DOID:0081386", "recommended_name": { "id": "DOID:0081386", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081386", "name": "TANGO2-related metabolic encephalopathy and arrythmias", "description": "A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11." }, "synonyms": [ { "id": "DOID:0081386", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081386", "name": "metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration", "description": "" }, { "id": "DOID:0081386", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081386", "name": "TANGO2 deficiency", "description": "" }, { "id": "MONDO:0018820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018820", "name": "recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome", "description": "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy." }, { "id": "MONDO:0018820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018820", "name": "MECRCN", "description": "" }, { "id": "MONDO:0018820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018820", "name": "TANGO2 Deficiency Disorder", "description": "" }, { "id": "MONDO:0018820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018820", "name": "TANGO2 deficiency", "description": "" }, { "id": "MONDO:0018820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018820", "name": "transport and golgi organisation protein 2 (TANGO2) deficiency", "description": "" }, { "id": "MONDO:0018820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018820", "name": "transport and golgi organization protein 2 (TANGO2) deficiency", "description": "" }, { "id": "MIM:616878", "resource": "MIM", "url": "https://www.omim.org/entry/616878", "name": "Metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration", "description": "Metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" } ], "children": [], "id_list": [ "DOID:0081386" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0081386", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081386", "categories": [] }, { "id": "MONDO:0018820", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018820", "categories": [] }, { "id": "MIM:616878", "database": "MIM", "url": "https://www.omim.org/entry/616878", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "A0A8M2BJ62-1", "uniprot_ac": "A0A8M2BJ62", "uniprot_id": "A0A8M2BJ62_DANRE", "refseq_ac": "XP_005171895", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Transport and Golgi organization protein 2 homolog isoform X1", "type": "synonym" }, { "name": "transport and Golgi organization protein 2 homolog isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "tango2", "type": "recommended" }, { "name": "tango2", "type": "synonym" }, { "name": "wu:fj48d05", "type": "synonym" }, { "name": "zgc:100952", "type": "synonym" } ], "record_id": "A0A8M2BJ62-1", "evidence": [ { "id": "0081386", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081386" } ] }, { "uniprot_canonical_ac": "P54797-1", "uniprot_ac": "P54797", "uniprot_id": "TNG2_MOUSE", "refseq_ac": "NP_613049", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Transport and Golgi organization 2 homolog", "type": "recommended" }, { "name": "Ser/Thr-rich protein T10 in DGCR region", "type": "synonym" }, { "name": "ser/Thr-rich protein T10 in DGCR region", "type": "synonym" }, { "name": "transport and Golgi organization 2 homolog isoform 1", "type": "synonym" }, { "name": "transport and golgi organization 2 homolog", "type": "synonym" } ], "gene_names": [ { "name": "Tango2", "type": "recommended" }, { "name": "D16H22S680E", "type": "synonym" }, { "name": "T10", "type": "synonym" }, { "name": "Tango2", "type": "synonym" } ], "record_id": "P54797-1", "evidence": [ { "id": "0081386", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081386" } ] }, { "uniprot_canonical_ac": "Q6ICL3-1", "uniprot_ac": "Q6ICL3", "uniprot_id": "TNG2_HUMAN", "refseq_ac": "NP_001270035", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Transport and Golgi organization protein 2 homolog", "type": "recommended" }, { "name": "transport and Golgi organization protein 2 homolog isoform a", "type": "synonym" }, { "name": "transport and Golgi organization protein 2 homolog", "type": "synonym" } ], "gene_names": [ { "name": "TANGO2", "type": "recommended" }, { "name": "C22orf25", "type": "synonym" }, { "name": "MECRCN", "type": "synonym" }, { "name": "TANGO2", "type": "synonym" } ], "record_id": "Q6ICL3-1", "evidence": [ { "id": "616878", "database": "MIM", "url": "https://www.omim.org/entry/616878" }, { "id": "0081386", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081386" } ] }, { "uniprot_canonical_ac": "P53275-1", "uniprot_ac": "P53275", "uniprot_id": "YG37_YEAST", "refseq_ac": "NP_011643", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Uncharacterized protein YGR127W", "type": "recommended" }, { "name": "uncharacterized protein", "type": "synonym" } ], "gene_names": [], "record_id": "P53275-1", "evidence": [ { "id": "0081386", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081386" } ] }, { "uniprot_canonical_ac": "A0A8I6G5G3-1", "uniprot_ac": "A0A8I6G5G3", "uniprot_id": "A0A8I6G5G3_RAT", "refseq_ac": "XP_038944437", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Transport and golgi organization 2 homolog", "type": "synonym" }, { "name": "transport and Golgi organization protein 2 homolog isoform X6", "type": "synonym" } ], "gene_names": [ { "name": "Tango2", "type": "recommended" }, { "name": "RGD1310348", "type": "synonym" }, { "name": "Tango2", "type": "synonym" } ], "record_id": "A0A8I6G5G3-1", "evidence": [ { "id": "0081386", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081386" } ] }, { "uniprot_canonical_ac": "Q9VYA8-1", "uniprot_ac": "Q9VYA8", "uniprot_id": "TNG2_DROME", "refseq_ac": "NP_001245654", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Transport and Golgi organization protein 2", "type": "recommended" }, { "name": "CG11176-PB", "type": "synonym" }, { "name": "Tango2-PB", "type": "synonym" }, { "name": "transport and golgi organization 2, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "Tango2", "type": "recommended" }, { "name": "CG11176", "type": "synonym" }, { "name": "Dmel\\CG11176", "type": "synonym" }, { "name": "Dmel_CG11176", "type": "synonym" }, { "name": "TANGO2", "type": "synonym" }, { "name": "Tango2", "type": "synonym" } ], "record_id": "Q9VYA8-1", "evidence": [ { "id": "0081386", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081386" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0081386" }