Hyperthyroidism, nonautoimmune

Preferred Label : Hyperthyroidism, nonautoimmune;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperthyroidism, nonautoimmune, autosomal dominant; Toxic thyroid hyperplasia, autosomal dominant; Hyperthyroidism, congenital nonautoimmune;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the thyroid-stimulating hormone receptor gene (TSHR, 603372.0004);

Laboratory abnormalities : Decreased serum thyroid-stimulating hormone (TSH); Increased serum levels of free plasma thyroid hormones;

Prefixed ID : #609152;

Details

Origin ID

609152;

UMLS CUI

C1836706;

CISMeF manual mappings
- non autoimmune hyperthyroidism [Disease (Nov.)]
Currated CISMeF NLP mapping
- Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder) [SNOMED CT concept]
- Familial hyperthyroidism due to mutations in TSH receptor [ORDO Disease]
- Hereditary hyperthyroidism due to mutations in TSH receptor [ICD-11 More detail]
- hyperthyroidism, nonautoimmune [MeSH concept]
- hyperthyroidism, nonautoimmune [MeSH Supplementary Concept]
DO Cross reference
- hyperthyroidism [DO Concept]
Genes related to phenotype
- Thyroid-stimulating hormone receptor [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Accelerated skeletal maturation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Delayed speech and language development [HPO term]
- Goiter [HPO term]
- Hyperactivity [HPO term]
- Hyperthyroidism [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Motor delay [HPO term]
- Premature birth [HPO term]
- Small for gestational age [HPO term]
- Speech delay [HPO term]
- Sporadic [HPO term]
- Tachycardia [HPO term]
- Thyroid hyperplasia [HPO term]
Not associated HPO term(s)
- Pretibial myxedema [HPO term]
- Proptosis [HPO term]
ORDO concept(s)
- Familial hyperthyroidism due to mutations in TSH receptor [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hyperthyroidism due to mutations in TSH receptor [ORDO Disease]
- hyperthyroidism, nonautoimmune [MeSH Supplementary Concept]
- hyperthyroidism, nonautoimmune [MeSH concept]

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