Cyanosis, transient neonatal

Preferred Label : Cyanosis, transient neonatal;

Symbol : TNCY;

CISMeF acronym : TNCY;

Type : Phenotype, molecular basis known;

Description : Neonatal cyanosis is characterized by symptoms in the fetus and neonate that gradually abate by 5 to 6 months of age. The disorder is caused by a defect in the fetal hemoglobin chain, which causes reduced affinity for oxygen due to steric inhibition of oxygen binding and/or due to increased oxidation of the fetal hemoglobin molecule to methemoglobin (Hb FM), which has decreased oxygen-binding capacity. Some patients develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain (HBB; 141900) is produced and replaces the fetal gamma-globin chain (summary by Crowley et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gamma G hemoglobin gene (HBG2, 142250.0025);

Laboratory abnormalities : Methemoglobinemia;

Prefixed ID : #613977;

Details

Origin ID

613977;

UMLS CUI

C3151421;

Automatic exact mappings (from CISMeF team)
- HBG2 wt Allele [NCIt concept]
- Hemoglobinopathy Toms River [ORDO Disease]
Genes related to phenotype
- Hemoglobin, gamma g [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Cyanosis [HPO term]
- Hepatomegaly [HPO term]
- Jaundice [HPO term]
- Methemoglobinemia [HPO term]
- Reticulocytosis [HPO term]
ORDO concept(s)
- Hemoglobinopathy Toms River [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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