Methemoglobinemia and ambiguous genitalia

Preferred Label : Methemoglobinemia and ambiguous genitalia;

Symbol : METAG;

CISMeF acronym : METAG;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Methemoglobinemia due to deficiency of cytochrome b5; Isolated 17,20-lyase deficiency, pure; Methemoglobinemia type iv;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cytochrome B5A gene (CYB5A, 613218.0001);

Laboratory abnormalities : Methemoglobin concentration 12 to 19% (in 1 patient); Methemoglobinemia, mild (in some patients);

Prefixed ID : #250790;

Details

Origin ID

250790;

UMLS CUI

C4285231;

Automatic exact mappings (from CISMeF team)
- Hereditary methemoglobinemia [ORDO Disease]
- Metageria (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- methemoglobinemia type IV [Disease (Nov.)]
- methemoglobinemia type IV [MeSH concept]
- methemoglobinemia type IV [MeSH Supplementary Concept]
Genes related to phenotype
- Cytochrome b5, type a (microsomal) [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Ambiguous genitalia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid scrotum [HPO term]
- Cyanosis [HPO term]
- Hypospadias [HPO term]
- Infantile onset [HPO term]
- Male pseudohermaphroditism [HPO term]
- Methemoglobinemia [HPO term]
- Micropenis [HPO term]
ORDO concept(s)
- Hereditary methemoglobinemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- methemoglobinemia type IV [MeSH Supplementary Concept]
- methemoglobinemia type IV [MeSH concept]
- methemoglobinemia type IV [Disease (Nov.)]

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