Thyroid dyshormonogenesis 6

Preferred Label : Thyroid dyshormonogenesis 6;

Symbol : TDH6;

CISMeF acronym : TDH6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thyroid hormonogenesis, genetic defect in, 6; Hypothyroidism, congenital, due to dyshormonogenesis, 6;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dual oxidase 2 gene (DUOX2, 606759.0001);

Laboratory abnormalities : Iodide organification defect; Elevated TSH; Increased RAI (radioactive iodine) uptake; Low T3; Low T4;

Prefixed ID : #607200;

Details

Origin ID

607200;

UMLS CUI

C1846632;

Automatic exact mappings (from CISMeF team)
- Primary congenital hypothyroidism without thyroid developmental anomaly [ORDO Disease]
Currated CISMeF NLP mapping
- thyroid dyshormonogenesis 6 [MeSH concept]
- thyroid dyshormonogenesis 6 [MeSH Supplementary Concept]
Genes related to phenotype
- Dual oxidase 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital hypothyroidism [HPO term]
- Hypothyroidism [HPO term]
- Low T4 [HPO term]
ORDO concept(s)
- Familial thyroid dyshormonogenesis [ORDO Disease]
See also inter- (CISMeF)
- Familial thyroid dyshormonogenesis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- thyroid dyshormonogenesis 6 [MeSH Supplementary Concept]
- thyroid dyshormonogenesis 6 [MeSH concept]

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