Hypothyroidism, congenital, nongoitrous, 1

Preferred Label : Hypothyroidism, congenital, nongoitrous, 1;

Symbol : CHNG1;

CISMeF acronym : CHNG1; RTSH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypothyroidism, nonautoimmune; Hypothyroidism, congenital, due to tsh resistance; Hypothyroidism due to unresponsiveness to thyrotropin; Tsh resistance; Thyrotropin resistance; RTSH; Thyroid-stimulating hormone, resistance to;

Description : Resistance to thyroid-stimulating hormone (TSH; see 188540), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997). - Genetic Heterogeneity of Congenital Nongoitrous Hypothyroidism;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the thyroid-stimulating hormone receptor gene (TSHR, 603372.0005);

Laboratory abnormalities : Increased serum thyroid-stimulating hormone (TSH); Normal or mildly decreased serum levels of free thyroid hormones;

Prefixed ID : #275200;

Details

Origin ID

275200;

UMLS CUI

C3493776;

Automatic exact mappings (from CISMeF team)
- Familial hyperthyroidism due to mutations in TSH receptor [ORDO Disease]
- Hypothyroidism due to TSH receptor mutations [ORDO Disease]
- Primary congenital hypothyroidism without thyroid developmental anomaly [ORDO Disease]
- TSHR wt Allele [NCIt concept]
- Thyroid Stimulating Hormone Resistance [NCIt concept]
- Thyroid hormone resistance syndrome (disorder) [SNOMED CT concept]
- Thyroid hormone responsiveness defect (disorder) [SNOMED CT concept]
Broader ORDO disease(s)
- Congenital hypothyroidism [ORDO Disease]
Currated CISMeF NLP mapping
- Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder) [SNOMED CT concept]
- congenital nongoitrous hypothyroidism 1 [DO Concept]
- hypothyroidism, congenital, nongoitrous, 1 [MeSH Supplementary Concept]
- hypothyroidism, congenital, nongoitrous, 1 [MeSH concept]
DO Cross reference
- congenital nongoitrous hypothyroidism 1 [DO Concept]
Genes related to phenotype
- Thyroid-stimulating hormone receptor [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital hypothyroidism [HPO term]
- Congenital onset [HPO term]
- Elevated circulating thyroid-stimulating hormone concentration [HPO term]
- Goiter [HPO term]
- Hypothyroidism [HPO term]
- Infantile onset [HPO term]
- Thyroid hypoplasia [HPO term]
ORDO concept(s)
- Hypothyroidism due to TSH receptor mutations [ORDO Disease]
See also inter- (CISMeF)
- thyroid hormone resistance syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder) [SNOMED CT concept]
- Thyroid Stimulating Hormone Resistance [NCIt concept]
- hypothyroidism, congenital, nongoitrous, 1 [MeSH concept]
- hypothyroidism, congenital, nongoitrous, 1 [MeSH Supplementary Concept]

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