Methemoglobinemia due to deficiency of methemoglobin reductase

Preferred Label : Methemoglobinemia due to deficiency of methemoglobin reductase;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nadh-dependent methemoglobin reductase deficiency; Nadh-cytochrome b5 reductase deficiency; Methemoglobinemia, congenital, autosomal recessive;

Included titles and symbols : Methemoglobinemia, type I; Methemoglobinemia, type II; Nadh-cytochrome b5 reductase deficiency, type I; Nadh-cytochrome b5 reductase deficiency, type II;

Description : Methemoglobinemia due to NADH-cytochrome b5 reductase deficiency is an autosomal recessive disorder characterized clinically by decreased oxygen carrying capacity of the blood, with resultant cyanosis and hypoxia (review by Percy and Lappin, 2008). There are 2 types of methemoglobin reductase deficiency. In type I, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well-tolerated methemoglobinemia. In type II, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes, and all body tissues. Type II methemoglobinemia is associated with mental deficiency and other neurologic symptoms. The neurologic symptoms may be related to the major role played by the cytochrome b5 system in the desaturation of fatty acids (Vives-Corrons et al., 1978; Kaplan et al., 1979).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cytochrome b5 reductase 3 gene (CYB5R3, 613213.0001);

Laboratory abnormalities : NADH-cytochrome b(5) reductase deficiency;

Prefixed ID : #250800;

Details

Origin ID

250800;

UMLS CUI

C5574660;

Automatic exact mappings (from CISMeF team)
- Hereditary methemoglobinemia [ORDO Disease]
- Nadh-Cytochrome B5 reductase deficiency, type I [MeSH concept]
- Nadh-Cytochrome B5 reductase deficiency, type ii [MeSH concept]
- Recessive hereditary methemoglobinemia type 1 [ORDO Disease]
- Recessive hereditary methemoglobinemia type 2 [ORDO Disease]
- methemoglobinemia, type I [MeSH concept]
- methemoglobinemia, type ii [MeSH concept]
Currated CISMeF NLP mapping
- Autosomal recessive congenital methemoglobinemia (disorder) [SNOMED CT concept]
- Methemoglobin Reductase Deficiency [NCIt concept]
- NADH cytochrome B5 reductase deficiency [MeSH Supplementary Concept]
- NADH cytochrome B5 reductase deficiency [MeSH concept]
- NADH cytochrome b5 reductase deficiency [MedDRA LLT]
Genes related to phenotype
- Cytochrome b5 reductase 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cyanosis [HPO term]
- Exertional dyspnea [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Headache [HPO term]
- Hypertonia [HPO term]
- Intellectual disability [HPO term]
- Methemoglobinemia [HPO term]
- Microcephaly [HPO term]
- Opisthotonus [HPO term]
- Polycythemia [HPO term]
- Strabismus [HPO term]
Narrower ORDO disease(s)
- Recessive hereditary methemoglobinemia type 1 [ORDO Disease]
- Recessive hereditary methemoglobinemia type 2 [ORDO Disease]
ORDO concept(s)
- Hereditary methemoglobinemia [ORDO Disease]
- Recessive hereditary methemoglobinemia type 1 [ORDO Disease]
- Recessive hereditary methemoglobinemia type 2 [ORDO Disease]
See also inter- (CISMeF)
- dihydrolipoamide dehydrogenase deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive congenital methemoglobinemia (disorder) [SNOMED CT concept]
- Deficiency of cytochrome-b>5< reductase (disorder) [SNOMED CT concept]
- Dihydrolipoamide dehydrogenase deficiency (disorder) [SNOMED CT concept]
- NADH cytochrome B5 reductase deficiency [MeSH Supplementary Concept]
- NADH cytochrome B5 reductase deficiency [MeSH concept]
- NADH cytochrome b5 reductase deficiency [MedDRA LLT]
- cytochrome-b reductase deficiency [SNOMED Notion]
- dihydrolipoamide dehydrogenase deficiency [SNOMED Notion]
Validated automatic mappings to NTBT
- methemoglobinemia type I [Disease (Nov.)]
- methemoglobinemia type II [Disease (Nov.)]

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