Methemoglobinemia due to Deficiency of Methemoglobin Reductase

Alternative Names

  • NADH-Dependent Methemoglobin Reductase Deficiency
  • NADH-Cytochrome b5 Reductase Deficiency
  • Methemoglobinemia, Congenital, Autosomal Recessive
  • Methemoglobinemia Type I
  • Methemoglobinemia, Type II
  • NADH-Cytochrome b5 Reductase Deficiency, Type I
  • NADH-Ccytochrome b5 Reductase Deficiency, Type II
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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

OMIM Number

250800

Mode of Inheritance

Autosomal recessive

Gene Map Locus

22q13.2

Description

Methemoglobinemia is a ocndition in which the hemoglobin's oxygen carrying capacity is reduced, leading to hypoxia and cyanosis. Autosomal recesisve methemoglobinemia is of two types. Type I is a relatively benign condition, characterized by cyanosis. Type II is a more severe form, characetrized by cyanosis in association with severe intellectual disability and neurological impairment. 

Mutations in the CYB5R3 genes are causal for both Types of autosomal recessive Methemoglobinemia.  

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
250800.1.1LebanonMaleNoNo Cyanosis; Intellectual disability, prof...NM_007326.4:c.813_815delinsAAHomozygousAutosomal, RecessiveLeroux et al, 2005
250800.2AlgeriaUnknownYes Cyanosis; Intellectual disability, prof...NM_007326.4:c.394+8G>CHomozygousAutosomal, RecessiveVieira et al, 1995
250800.3AlgeriaUnknownYes Cyanosis; Intellectual disability, pro...NM_007326.4:c.394+8G>CHomozygousAutosomal, RecessiveVieira et al, 1995
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