5C53.21

ICD-11 MMS 2026-01

Multiple mitochondrial DNA deletion syndromes

Description

This is the multiple DNA located in organelles called mitochondria, structures within eukaryotic cells that convert the chemical energy from food into a form that cells can use, adenosine triphosphate (ATP).

Index terms

  • Multiple mitochondrial DNA deletion syndromes
  • Mitochondrial DNA deletion ataxia neuropathy spectrum
  • Mitochondrial recessive ataxic syndrome
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  • MIRAS - [Mitochondrial recessive ataxic syndrome]
  • Sensory ataxic neuropathy – dysarthria - ophthalmoparesis
  • SANDO - [Sensory ataxic neuropathy – dysarthria - ophthalmoparesis] syndrome
  • Spinocerebellar ataxia with epilepsy
  • SCAE - [Spinocerebellar ataxia with epilepsy]

Exclusions from above levels

  • http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
  • 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
  • 5A71.01 – Congenital adrenal hyperplasia
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  • 5A81.1 – 5-alpha-reductase deficiency
  • LD28.01 – Marfan syndrome
  • LD28.1 – Ehlers-Danlos syndrome
  • LD2A.4 – androgen resistance syndrome
  • 18 – Pregnancy, childbirth or the puerperium
  • http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

  • 5C53.20 – Mitochondrial DNA depletion syndromes
  • 5C53.22 – Coenzyme Q10 deficiency
  • 5C53.23 – Mitochondrial protein translation defects
  • 5C53.24 – Leigh syndrome
  • 5C53.25 – Isolated ATP synthase deficiency
  • 5C53.2Y – Other specified disorders of mitochondrial oxidative phosphorylation
  • 5C53.2Z – Disorders of mitochondrial oxidative phosphorylation, unspecified

Foundation entity

Multiple mitochondrial DNA deletion syndromes – http://id.who.int/icd/entity/194083556

Part of: 5C53.2: Disorders of mitochondrial oxidative phosphorylation › 5C53: Inborn errors of energy metabolism › 05: Endocrine, nutritional or metabolic diseases