Congenital Methemoglobinemia

Alias:
Hereditary Methemoglobinemia
Methemoglobinemia, Beta-Globin Type
Autosomal Recessive Methemoglobinemia
Hemoglobin M Disease
Blue Baby Syndrome
Methemoglobinemia Hereditary
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Methemoglobinemia, also known as hereditary methemoglobinemia, is related to methemoglobinemia, beta type and acquired methemoglobinemia. An important gene associated with Congenital Methemoglobinemia is CYB5R3 (Cytochrome B5 Reductase 3), and among its related pathways/superpathways is Methylene Blue Pathway, Pharmacodynamics. The drugs Methylene blue and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin and brain, and related phenotypes are cyanosis and methemoglobinemia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
4
25
20

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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