Thyroid dyshormonogenesis 1

Preferred Label : Thyroid dyshormonogenesis 1;

Symbol : TDH1;

CISMeF acronym : TDH1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypothyroidism, congenital, due to dyshormonogenesis, 1; Thyroid hormonogenesis, genetic defect in, 1; Iodine accumulation, transport, or trapping defect;

Description : Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes (Vono-Toniolo et al., 2005). Dyshormonogenesis can be caused by recessive defects at any of the steps required for normal thyroid hormone synthesis. In untreated patients thyroid dyshormonogenesis is typically associated with goitrous enlargement of the thyroid secondary to long-term thyrotropin (TSH; see 188540) stimulation. Park and Chatterjee (2005) reviewed the genetics of primary congenital hypothyroidism, summarizing the different phenotypes associated with known genetic defects and proposing an algorithm for investigating the genetic basis of the disorder.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 5 (sodium iodide symporter), member 5 gene (SLC5A5, 601843.0001);

Laboratory abnormalities : Low T4; Low RAI (radioactive iodine) uptake;

Prefixed ID : #274400;

Details

Origin ID

274400;

UMLS CUI

C1848805;

Automatic exact mappings (from CISMeF team)
- Primary congenital hypothyroidism without thyroid developmental anomaly [ORDO Disease]
- SLC5A5 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Familial thyroid dyshormonogenesis [ORDO Disease]
- thyroid dyshormonogenesis 1 [MeSH concept]
- thyroid dyshormonogenesis 1 [MeSH Supplementary Concept]
Genes related to phenotype
- Solute carrier family 5 (sodium iodide symporter), member 5 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Constipation [HPO term]
- Dry skin [HPO term]
- Goiter [HPO term]
- Growth delay [HPO term]
- Hypothyroidism [HPO term]
- Intellectual disability [HPO term]
- Lethargy [HPO term]
- Low T4 [HPO term]
- Macroglossia [HPO term]
- Umbilical hernia [HPO term]
ORDO concept(s)
- Familial thyroid dyshormonogenesis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- thyroid dyshormonogenesis 1 [MeSH Supplementary Concept]
- thyroid dyshormonogenesis 1 [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients