GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Deficiency Of Cytochrome-b5 Reductase(Methemoglobinemia Due to Deficiency of Methemoglobin Reductase)      Explore Disorder's Alias
An Autosomal recessive mode(s) within the Blood disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 CYB5R3/1727 cytochrome b5 reductase 3 22q13.2 Chr22, NC_000022.11
(42617840..42649392, complement)
31553 nt 12 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information    
Disorder Cross-References:      Orphanet          OMIM          GARD          GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

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