Details of Disease

General Information of Disease (ID: DIS4XNEP)

Disease Name Hereditary methemoglobinemia
Synonyms congenital methemoglobinemia; hereditary methemoglobinemia; autosomal recessive methemoglobinemia
Definition
Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present.
Disease Hierarchy
DISI8W45: Anaemia
DISGK35P: Inherited hemoglobinopathy
DISEWENH: Methemoglobinemia
DIS4XNEP: Hereditary methemoglobinemia
Disease Identifiers
MONDO ID
MONDO_0018963
MESH ID
C580280
UMLS CUI
C0272087
MedGen ID
473013
Orphanet ID
621
SNOMED CT ID
267550008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CYB5R3 DE4A3BL Supportive Autosomal recessive [1]
CYB5A DE9A2LB Strong Genetic Variation [2]
CYB5R3 DE4A3BL Strong CausalMutation [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CYB5R3 OTUGT3G8 Supportive Autosomal recessive [1]
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References

1 NADH-cytochrome b5 reductase in a Turkish family with recessive congenital methaemoglobinaemia type I. J Clin Pathol. 2008 Oct;61(10):1122-3. doi: 10.1136/jcp.2008.058701.
2 A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism.Hum Genet. 1994 May;93(5):568-70. doi: 10.1007/BF00202825.
3 Molecular basis of two novel mutations found in type I methemoglobinemia.Blood Cells Mol Dis. 2011 Apr 15;46(4):277-81. doi: 10.1016/j.bcmd.2011.01.005. Epub 2011 Feb 24.