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Mitochondrial inheritance

MedGen UID:
165802
•Concept ID:
C0887941
•
Genetic Function
Synonyms: Inheritance, Mitochondrial; Mitochondrial Inheritance
 
HPO: HP:0001427
Orphanet: ORPHA409933

Definition

A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Mitochondrial inheritance

Professional guidelines

PubMed

The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment.
Meyyazhagan A, Kuchi Bhotla H, Pappuswamy M, Orlacchio A
Int J Mol Sci 2022 Jul 11;23(14) doi: 10.3390/ijms23147665. PMID: 35887006Free PMC Article
Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequence.
Paiva Coelho M, Martins E, Vilarinho L
Eur J Pediatr 2019 Jan;178(1):21-32. Epub 2018 Dec 7 doi: 10.1007/s00431-018-3292-x. PMID: 30535772
Phenotype and genotype of deaf patients with combined genomic and mitochondrial inheritance models.
Huang S, Wang G, Jiang Y, Yuan Y, Han D, Song Y, Dai P
Mitochondrion 2013 Nov;13(6):791-4. Epub 2013 May 18 doi: 10.1016/j.mito.2013.05.004. PMID: 23688906

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    • ClinVar
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