methemoglobinemia due to deficiency of methemoglobin reductase
MONDO:0009606Mondo
Findings
No curated finding names methemoglobinemia due to deficiency of methemoglobin reductase yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CyanosisHPOHP:0000961
- 1 of 1 reported patient
- Decreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activityHPOHP:6000133
- 1 of 1 reported patient
- EsodeviationHPOHP:0020045
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HypertoniaHPOHP:0001276
- 1 of 1 reported patient
- TremorHPOHP:0001337
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CYB5R3HGNC:2873
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2015
Where it sits
- A kind of
Other names
2 names
Resolves to: methemoglobinemia due to deficiency of methemoglobin reductase
- Also called
- methemoglobinemia, type Imethemoglobinemia, type II