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

CYB5R3 AKR1C2
AKR1C4
CYB5A
CYP17A1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Recessive hereditary methemoglobinemia type 1
CYB5R3
46,XY disorder of sex development due to isolated 17, 20 lyase deficiency
AKR1C2 AKR1C4 CYB5A CYP17A1



Recessive hereditary methemoglobinemia type 1
46,XY disorder of sex development due to isolated 17, 20 lyase deficiency

Synonym(s):
- NADH-cytochrome b5reductase deficiency type 1
- NADH-diaphorase deficiency type 1
- Recessive congenital methemoglobinemia type 1

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: unknown
Average age onset: neonatal/infancy
Average age of death: normal
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.