methemoglobinemia type 4
MONDO:0009605Mondo
Findings
No curated finding names methemoglobinemia type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene.
Definition from the Mondo Disease Ontology (MONDO:0009605), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
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.
- Ambiguous genitaliaHPOHP:0000062
- 1 of 1 reported patient
- Bifid scrotumHPOHP:0000048
- 1 of 1 reported patient
- Decreased circulating dehydroepiandrosterone-sulfate concentrationHPOHP:0031215
- 1 of 1 reported patient
- Elevated circulating luteinizing hormone levelHPOHP:0011969
- 1 of 1 reported patient
- MethemoglobinemiaHPOHP:0012119
- 1 of 1 reported patient
- Scrotal hypospadiasHPOHP:0012853
- 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.
- CYB5AHGNC:2570
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
2 names
Resolves to: methemoglobinemia type 4
- Also called
- CYB5A methemoglobinemiamethemoglobinemia caused by mutation in CYB5A