Details of Disease

General Information of Disease (ID: DISZAEZH)

Disease Name Methemoglobinemia due to deficiency of methemoglobin reductase
Synonyms
methemoglobinemia, congenital, autosomal recessive; NADH-cytochrome B5 reductase deficiency, type 2; NADH methemoglobin reductase deficiency; NADH diaphorase deficiency; NADH-dependent methemoglobin reductase deficiency; methemoglobinemia, type 2; NADH-cytochrome B5 reductase deficiency, type 1; NADH-cytochrome B5 reductase deficiency; methemoglobinemia, type 1; NADH cytochrome B5 reductase deficiency; methemoglobinemia, type II; methemoglobinemia due to deficiency of methemoglobin reductase; methemoglobinemia, type I
Disease Hierarchy
DIS4XNEP: Hereditary methemoglobinemia
DISZAEZH: Methemoglobinemia due to deficiency of methemoglobin reductase
Disease Identifiers
MONDO ID
MONDO_0009606
MESH ID
C537841
UMLS CUI
C0268193
MedGen ID
75661
SNOMED CT ID
124184009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CYB5R3 DE4A3BL Limited Genetic Variation [1]
CYB5R3 DE4A3BL Strong Autosomal recessive [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CYB5R3 OTUGT3G8 Strong Autosomal recessive [2]
PDP1 OT82RTMT Strong Biomarker [3]
DLD OT378CU9 Definitive Genetic Variation [4]
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References

1 Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I.Hematology. 2018 Sep;23(8):567-573. doi: 10.1080/10245332.2018.1444920. Epub 2018 Feb 27.
2 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
3 Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. Orphanet J Rare Dis. 2013 Dec 17;8:192. doi: 10.1186/1750-1172-8-192.
4 Human dihydrolipoamide dehydrogenase (E3) deficiency: Novel insights into the structural basis and molecular pathomechanism.Neurochem Int. 2018 Jul;117:5-14. doi: 10.1016/j.neuint.2017.05.018. Epub 2017 Jun 2.