hereditary methemoglobinemia
Findings
No curated finding names hereditary methemoglobinemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present.
Definition from the Mondo Disease Ontology (MONDO:0018963), read 2026-09-29. CC BY 4.0.
Features
26 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
- Very frequent (80% to 99% of cases)
- MethemoglobinemiaHPOHP:0012119
- Very frequent (80% to 99% of cases)
- Abnormal nail morphologyHPOHP:0001597
- Frequent (30% to 79% of cases)
- Abnormality of the nervous systemHPOHP:0000707
- Frequent (30% to 79% of cases)
- Exertional dyspneaHPOHP:0002875
- Frequent (30% to 79% of cases)
- Lip discolorationHPOHP:0025118
- Frequent (30% to 79% of cases)
- AthetosisHPOHP:0002305
- Occasional (5% to 29% of cases)
- Blue scleraeHPOHP:0000592
- Occasional (5% to 29% of cases)
- Cerebellar atrophyHPOHP:0001272
- Occasional (5% to 29% of cases)
- Cerebral hypomyelinationHPOHP:0006808
- Occasional (5% to 29% of cases)
- EsotropiaHPOHP:0000565
- Occasional (5% to 29% of cases)
- Frontal cortical atrophyHPOHP:0006913
- Occasional (5% to 29% of cases)
Show the remaining 14
- Global brain atrophyHPOHP:0002283
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
- Occasional (5% to 29% of cases)
- Limb dystoniaHPOHP:0002451
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- Occasional (5% to 29% of cases)
- Severe global developmental delayHPOHP:0011344
- Occasional (5% to 29% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Occasional (5% to 29% of cases)
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
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: hereditary methemoglobinemia
- Also called
- autosomal recessive methemoglobinemiacongenital methemoglobinemia