Hyperthyroxinemia, dystransthyretinemic

Preferred Label : Hyperthyroxinemia, dystransthyretinemic;

Symbol : DTTRH;

CISMeF acronym : DTTRH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Euthryroidal hyperthyroxinemia 2; Dystransthyretinemic euthyroidal hyperthyroxinemia; Hyperthyroxinemia, dysprealbuminemic;

Description : Familial euthyroidal hyperthyroxinemia is a 'nondisease' sometimes due to an anomaly of albumin, termed 'dysalbuminemic' (see 103600), or of transthyretin, termed 'dystransthyretinemic' or 'dysprealbuminemic.' Dysthyretinemic euthyroidal hyperthyroxinemia is secondary to an increased affinity for thyroxine (T4) by transthyretin (summary by Moses et al., 1990).;

Inheritance : Autosomal dominant;

Prefixed ID : #145680;

Details

Origin ID

145680;

UMLS CUI

C2750824;

Automatic exact mappings (from CISMeF team)
- dystransthyretinemic hyperthyroxinemia [DO Concept]
Currated CISMeF NLP mapping
- Dysprealbuminemic euthyroidal hyperthyroxinemia (disorder) [SNOMED CT concept]
- Euthyroid dysprealbuminemic hyperthyroxinemia [ORDO Disease]
- dystransthyretinemic euthyroidal hyperthyroxinemia [MeSH concept]
- dystransthyretinemic euthyroidal hyperthyroxinemia [MeSH Supplementary Concept]
DO Cross reference
- dystransthyretinemic hyperthyroxinemia [DO Concept]
Genes related to phenotype
- Transthyretin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Euthyroid hyperthyroxinemia [HPO term]
ORDO concept(s)
- Euthyroid dysprealbuminemic hyperthyroxinemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- dystransthyretinemic euthyroidal hyperthyroxinemia [MeSH Supplementary Concept]
- dystransthyretinemic euthyroidal hyperthyroxinemia [MeSH concept]

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