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Recessive hereditary methemoglobinemia type 1
1 OMIM reference -
1 associated gene
9 connected diseases
No signs/symptoms info
Disease Type of connection
Recessive hereditary methemoglobinemia type 2
Pediatric systemic lupus erythematosus
Young adult-onset Parkinsonism
46,XY disorder of sex development due to isolated 17, 20 lyase deficiency
Autosomal thrombocytopenia with normal platelets
Hemoglobinopathy Toms River
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
Blackfan-Diamond anemia
Synonym(s):
- NADH-cytochrome b5reductase deficiency type 1
- NADH-diaphorase deficiency type 1
- Recessive congenital methemoglobinemia type 1
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CYB5R3 P00387613213
No signs/symptoms info available.