Thyroid dyshormonogenesis 4

Preferred Label : Thyroid dyshormonogenesis 4;

Symbol : TDH4;

CISMeF acronym : TDH4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypothyroidism, congenital, due to dyshormonogenesis, 4; Deiodinase deficiency; Iodotyrosine dehalogenase deficiency; Thyroid hormonogenesis, genetic defect in, 4;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the iodotyrosine deiodinase gene (IYD, 612025.0001);

Laboratory abnormalities : Low T4; Low T3; Rapid high RAI (radioactive iodine) uptake and turnover; Iodotyrosine deiodinase deficiency; Continuous urinary iodine loss; Tyrosine loss; Iodine depletion;

Prefixed ID : #274800;

Details

Origin ID

274800;

UMLS CUI

C0342195;

Automatic exact mappings (from CISMeF team)
- Iodotyrosine deiodination defect (disorder) [SNOMED CT concept]
- Primary congenital hypothyroidism without thyroid developmental anomaly [ORDO Disease]
Currated CISMeF NLP mapping
- Deiodinase Deficiency [NCIt concept]
- thyroid dyshormonogenesis 4 [MeSH concept]
- thyroid dyshormonogenesis 4 [MeSH Supplementary Concept]
Genes related to phenotype
- Iodotyrosine deiodinase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Goiter [HPO term]
- Growth delay [HPO term]
- Hypothyroidism [HPO term]
- Intellectual disability [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)
- Deiodinase Deficiency [NCIt concept]
- Iodotyrosine deiodination defect (disorder) [SNOMED CT concept]
- iodotyrosine deiodination defect [SNOMED Notion]
- thyroid dyshormonogenesis 4 [MeSH Supplementary Concept]
- thyroid dyshormonogenesis 4 [MeSH concept]

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