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Recessive hereditary methemoglobinemia type 2
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
46,XY disorder of sex development due to isolated 17, 20 lyase deficiency
1 OMIM reference -
4 associated genes
No signs/symptoms info
Recessive hereditary methemoglobinemia type 2
46,XY disorder of sex development due to isolated 17, 20 lyase deficiency

CYB5R3
(UniProt - OMIM)
 AKR1C2
(UniProt - OMIM)
AKR1C4
(UniProt - OMIM)
CYB5A
(UniProt - OMIM)
CYP17A1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CYB5R3
(0.62)
CYB5A


Citations in the biomedical literature:


Recessive hereditary methemoglobinemia type 2
CYB5R3
46,XY disorder of sex development due to isolated 17, 20 lyase deficiency
AKR1C2 AKR1C4 CYB5A CYP17A1



Recessive hereditary methemoglobinemia type 2
46,XY disorder of sex development due to isolated 17, 20 lyase deficiency

Synonym(s):
- NADH-cytochrome b5reductase deficiency type 2
- NADH-diaphorase deficiency type 2
- Recessive congenital methemoglobinemia type 2
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare urogenital disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: young adult
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.