New Term Request: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, -or- TANGO2 related disease (name TBD?)

[vjenkinsFB]

I'd like to request a term for Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, a.k.a. TANGO2 related disease.

The name for this is a mess. There are several different names used by different sites. Many papers just call it something with TANGO2 in the name. I will leave this issue up to you.

OMIM: “Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration”, https://omim.org/entry/616878

Potential definition: [[NAME]] has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11.

Potential parent term: inherited metabolic disorder

Synonyms: MECRCN, TANGO2 related disease, TANGO2 deficiency, recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, TANGO2-related metabolic encephalopathy and arrhythmias

ClinVar search term: tango2[gene] AND (((1001[VARLEN] : 300000000[VARLEN] AND "single gene"[Properties]) OR (1[VARLEN] : 1000[VARLEN] AND "single gene"[Properties]))) , all except for one instance points to…

MedGen page(s) pointed to by the above: “Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome” (https://www.ncbi.nlm.nih.gov/medgen/C5567524/).

GeneReviews page: “TANGO2 deficiency”, https://www.ncbi.nlm.nih.gov/books/NBK476443/

MalaCards page: “Tango2-Related Metabolic Encephalopathy and Arrhythmias”, https://www.malacards.org/card/tango2_related_metabolic_encephalopathy_and_arrhythmias

RareDiseases.org: “TANGO2-Related Metabolic Encephalopathy and Arrhythmias”, https://rarediseases.org/gard-rare-disease/tango2-related-metabolic-encephalopathy-and-arrhythmias/

Orphanet: “Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome”, https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480864

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25439

Selected citations other than those in the OMIM entry (this is a very active field):

• https://pubmed.ncbi.nlm.nih.gov/36502486/, Asadi P, Milev MP, Saint-Dic D, Gamberi C, Sacher M. Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease-associated defects in Drosophila and human cells. J Inherit Metab Dis. 2023;46(2):358-368. doi:10.1002/jimd.1257
• https://pubmed.ncbi.nlm.nih.gov/36819889/, Gomes SA, Laranjo S, Trigo C, Pinto FF. The TANGO2 disease and the therapeutic challenge of acute arrhythmia management: a case report. Eur Heart J Case Rep. 2023;7(2):ytad044. Published 2023 Jan 30. doi:10.1093/ehjcr/ytad044
• https://pubmed.ncbi.nlm.nih.gov/34668327/, Schymick J, Leahy P, Cowan T, et al. Variable clinical severity in TANGO2 deficiency: Case series and literature review. Am J Med Genet A. 2022;188(2):473-487. doi:10.1002/ajmg.a.62543
• https://pubmed.ncbi.nlm.nih.gov/32929747/, Bérat CM, Montealegre S, Wiedemann A, et al. Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect. J Inherit Metab Dis. 2021;44(2):415-425. doi:10.1002/jimd.12314
• https://pubmed.ncbi.nlm.nih.gov/36473599/, Miyake CY, Lay EJ, Soler-Alfonso C, et al. Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients [published online ahead of print, 2022 Dec 5]. Genet Med. 2022;25(4):100352. doi:10.1016/j.gim.2022.11.020

Other links: https://tango2research.org/, which calls it TANGO2 related disease

FlyBase paper(s) to curate with this term: PMID: 36502486, FBrf0255990

My contact info: vjenkins@morgan.harvard.edu (FlyBase), 0000-0002-1567-7626. Thank you!

[lschriml]

Thank you for the new term request, it will be added in the April release. Cheers, Lynn

[SianGramates]

Hi Lynn, I'm making a FlyBase human disease model report for this disease, and am wondering on what you settled on as a DO term for it (I don't need the DOID yet, but would to name the report).

[lschriml]

Apologies on the delay with your request. We used the OMIM name, metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration

This disease has been added to DO.

Cheers, Lynn

[SianGramates]

Thanks Lynn. FlyBase went in the other direction, and have named our Human Disease Model 'TANGO2-related metabolic encephalopathy and arrythmias' (FBhh0001522).

[lschriml]

Yours is a better name, I have switched to your name.