Familial hyperthyroidism due to mutations in TSH receptor

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERTHYROIDISM, NONAUTOIMMUNE, AUTOSOMAL DOMINANT
HYPERTHYROIDISM, CONGENITAL NONAUTOIMMUNE
TOXIC THYROID HYPERPLASIA, AUTOSOMAL DOMINANT
Resistance to thyroid stimulating hormone
Familial non-immune hyperthyroidism
Number of Symptoms 22
OrphanetNr: 424
OMIM Id: 609152
ICD-10: E05.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic hypertension
 -Rare circulatory system disease
 -Rare genetic disease
 -Rare renal disease
Rare hyperthyroidism
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000752) Hyperactivity 140 / 7739
2
 (HPO:0100785) Insomnia 18 / 7739
3
 (HPO:0001270) Motor delay 322 / 7739
4
 (HPO:0000750) Delayed speech and language development 197 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0000836) Hyperthyroidism 25 / 7739
7
 (HPO:0000853) Goiter 39 / 7739
8
 (HPO:0008249) Thyroid hyperplasia 1 / 7739
9
 (HPO:0005616) Accelerated skeletal maturation 46 / 7739
10
 (HPO:0001622) Premature birth 100 / 7739
11
 (HPO:0001518) Small for gestational age 107 / 7739
12
 (HPO:0001649) Tachycardia 53 / 7739
13
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
14
 (OMIM) Increased serum levels of free plasma thyroid hormones 1 / 7739
15
 (OMIM) Absence of dermopathy 1 / 7739
16
 (OMIM) Decreased serum thyroid-stimulating hormone (TSH) 1 / 7739
17
 (OMIM) Absence of exophthalmos 1 / 7739
18
 (OMIM) Absence of anti-thyroid antibodies 2 / 7739
19
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
20
 (OMIM) Absence of immune complexes and lymphocytes in thyroid tissue 1 / 7739
21
 (HPO:0003745) Sporadic 131 / 7739
22
 (OMIM) Absence of pretibial myxedema 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Graves disease in the neonate is usually described as a transient disorder in the newborn offspring of women who have or have had hyperthyroidism. Hollingsworth and Mabry (1976) reported a subset of patients with 'congenital Graves disease' in ...
Molecular genetics OMIM In affected members of 2 large unrelated kindreds from northern France with autosomal dominant nonautoimmune hyperthyroidism, Duprez et al. (1994) identified 2 different heterozygous mutations in the TSHR gene (603372.0019; 603372.0020). One of the families had been reported ...