GRTH
MCID: THY112
MIFTS: 51

Thyroid Hormone Resistance, Generalized, Autosomal Dominant (GRTH)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Thyroid Hormone Resistance, Generalized, Autosomal Dominant

MalaCards integrated aliases for Thyroid Hormone Resistance, Generalized, Autosomal Dominant:

Name: Thyroid Hormone Resistance, Generalized, Autosomal Dominant 56 29 6 39 71
Thyroid Hormone Resistance 56 12 29 13 54 6
Thyroid Hormone Resistance Syndrome 12 36 43 15 71
Generalized Thyroid Hormone Resistance 12 73
Gthr 56 73
Hyperthyroxinemia, Familial Euthyroid, Secondary to Pituitary and Peripheral Resistance to Thyroid Hormones 56
Hyperthyroxinemia, Familial Euthyroid, Secondary to Pituitary and Peripheral Thyroid Hormones 56
Thyroid Hormone Resistance, Generalized, Autosomal Recessive 71
Generalized Thyroid Hormone Resistance Autosomal Dominant 73
Thyroid Hormone Resistance, Generalized 6
Thyroid Hormone Responsiveness Defect 12
Thyroid Hormone Unresponsiveness 56
Refetoff Syndrome 12
Grth 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant form
also a recessive form


HPO:

31
thyroid hormone resistance, generalized, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:11633
OMIM 56 188570
KEGG 36 H00249
MeSH 43 D018382
NCIt 49 C85191
SNOMED-CT 67 50375007
MedGen 41 C2937288
UMLS 71 C2937288 C2940786 C3489796

Summaries for Thyroid Hormone Resistance, Generalized, Autosomal Dominant

UniProtKB/Swiss-Prot : 73 Generalized thyroid hormone resistance: A disease characterized by goiter, abnormal mental functions, increased susceptibility to infections, abnormal growth and bone maturation, tachycardia and deafness. Affected individuals may also have attention deficit-hyperactivity disorders (ADHD) and language difficulties. GTHR patients also have high levels of circulating thyroid hormones (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH).

MalaCards based summary : Thyroid Hormone Resistance, Generalized, Autosomal Dominant, also known as thyroid hormone resistance, is related to generalized resistance to thyroid hormone and hypothyroidism, congenital, nongoitrous, 1. An important gene associated with Thyroid Hormone Resistance, Generalized, Autosomal Dominant is THRB (Thyroid Hormone Receptor Beta), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Thyroid hormone signaling pathway. The drug Hormones has been mentioned in the context of this disorder. Affiliated tissues include thyroid, pituitary and bone, and related phenotypes are delayed speech and language development and attention deficit hyperactivity disorder

KEGG : 36 Thyroid hormone resistance syndrome, which inherits in either autosomal dominant or recessive manner, is characterized by reduced end-organ responsiveness to thyroid hormone. It is caused by mutations in the gene of thyroid hormone receptor and the locations of the mutations in the gene are associated with the phenotypes, such as generalized resistance, pituitary selective resistance.

More information from OMIM: 188570

Related Diseases for Thyroid Hormone Resistance, Generalized, Autosomal Dominant

Diseases in the Generalized Resistance to Thyroid Hormone family:

Thyroid Hormone Resistance, Generalized, Autosomal Dominant Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Diseases related to Thyroid Hormone Resistance, Generalized, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 98, show less)
# Related Disease Score Top Affiliating Genes
1 generalized resistance to thyroid hormone 32.7 TXNRD2 TRH THRB
2 hypothyroidism, congenital, nongoitrous, 1 32.2 TSHR TG
3 hypothyroidism, congenital, nongoitrous, 2 32.1 TSHR TG SERPINA7
4 graves' disease 29.9 TSHR THRB TG SERPINA7
5 athyreosis 29.9 TSHR TG
6 hyperthyroxinemia 29.9 TSHR TRH THRB SERPINA7
7 papillary thyroid microcarcinoma 29.8 TSHR TG
8 neonatal thyrotoxicosis 29.6 TXNRD2 TSHR TG
9 exophthalmos 29.5 TSHR TG
10 hyperthyroidism 29.3 TSHR TRH THRB TG SLC16A2 SHBG
11 allan-herndon-dudley syndrome 29.1 TRH THRB THRA SLC16A2 SERPINA7
12 hashimoto thyroiditis 29.1 TSHR TSHB TG
13 thyroiditis 28.9 TSHR TSHB TRH THRB TG SERPINA7
14 goiter 28.9 TXNRD2 TSHR TRH THRB TG SHBG
15 congenital hypothyroidism 28.3 TSHR TSHB THRA TG SHBG SERPINA7
16 graves disease 1 27.6 TXNRD2 TSHR TRH THRSP THRB TG
17 hypothyroidism 26.5 TXNRD2 TSHR TSHB TRH THRSP THRB
18 thyroid hormone resistance, generalized, autosomal recessive 11.7
19 thyroid hormone plasma membrane transport defect 11.6
20 hypothyroidism, congenital, nongoitrous, 3 11.5
21 hyperthyroxinemia, familial dysalbuminemic 11.3
22 thyroid hormone resistance, selective pituitary 11.3
23 azoospermia 10.3
24 papillomatosis, confluent and reticulated 10.3
25 pituitary adenoma 10.3
26 hypoadrenalism 10.3 TG SHBG
27 estrogen excess 10.2 SHBG SERPINA7
28 male infertility 10.2
29 infertility 10.2
30 complete androgen insensitivity syndrome 10.2 SHBG NR1H2
31 thyroid carcinoma 10.1
32 iodine hypothyroidism 10.1 TSHR TG
33 postsurgical hypothyroidism 10.1 TSHR TG
34 spinal muscular atrophy, type iv 10.1 TRH LCOR
35 attention deficit-hyperactivity disorder 10.1
36 constipation 10.1
37 adenoma 10.1
38 subacute lymphocytic thyroiditis 10.1 TSHR TG
39 suprasellar meningioma 10.1 TSHB TRH
40 orthostatic intolerance 10.1
41 atrial fibrillation 10.1
42 primary hyperparathyroidism 10.1
43 hyperparathyroidism 10.1
44 pituitary tumors 10.1
45 tremor 10.1
46 benign struma ovarii 10.1 TSHR TG
47 hypothyroidism, central, with testicular enlargement 10.1 TSHB TRH
48 turner syndrome 10.1 TG SHBG SERPINA7
49 struma ovarii 10.1 TSHR TG
50 hypothalamic disease 10.1 TSHB TRH
51 learning disability 10.0
52 hypotonia 10.0
53 orbital disease 10.0 TSHR TG
54 mixed cerebral palsy 10.0 TRH SLC16A2 SHBG
55 myxedema 10.0 TSHR THRB TG
56 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0 TSHR TG
57 thyroid cancer, nonmedullary, 2 10.0 TSHR THRB TG
58 acth deficiency, isolated 9.9 TSHB TRH
59 neuroendocrine tumor 9.9
60 peripheral resistance to thyroid hormones 9.9
61 toxic diffuse goiter 9.9 TSHR TG SERPINA7
62 autoimmune disease of endocrine system 9.9 TSHR TG SERPINA7
63 cardiogenic shock 9.9
64 atrial standstill 1 9.8
65 hypercholesterolemia, familial, 1 9.8
66 endosteal hyperostosis, autosomal dominant 9.8
67 thyroid cancer, nonmedullary, 1 9.8
68 branchiootic syndrome 1 9.8
69 hypothyroidism, congenital, nongoitrous, 6 9.8
70 helix syndrome 9.8
71 autism spectrum disorder 9.8
72 umbilical hernia 9.8
73 gout 9.8
74 nodular goiter 9.8
75 osteopetrosis 9.8
76 neuroendocrine carcinoma 9.8
77 papillary carcinoma 9.8
78 lipid metabolism disorder 9.8
79 purpura 9.8
80 thyroid gland papillary carcinoma 9.8
81 congestive heart failure 9.8
82 inherited metabolic disorder 9.8
83 chronic fatigue syndrome 9.8
84 antisynthetase syndrome 9.8
85 pseudobulbar affect 9.8
86 hypertonia 9.8
87 uniparental disomy of chromosome 1 9.8
88 thyroid crisis 9.8 TSHR THRB TG SERPINA7
89 plummer's disease 9.8 TSHR THRB TG SHBG
90 nontoxic goiter 9.7 TSHR TG SHBG SERPINA7
91 subacute thyroiditis 9.7 TSHR TG SHBG SERPINA7
92 thyroid gland follicular carcinoma 9.6 TSHR TG
93 atrichia with papular lesions 9.6 THRSP LCOR
94 euthyroid sick syndrome 9.5 TRH THRSP TG SERPINA7
95 endemic goiter 9.5 TSHR TSHB TG SERPINA7
96 thyroid gland cancer 9.5 TXNRD2 TSHR THRB THRA TG
97 body mass index quantitative trait locus 11 9.3 TRH THRA SHBG NR1H2 LCOR
98 thyroid gland disease 8.8 TSHR TSHB TRH THRB TG SLC16A2

Graphical network of the top 20 diseases related to Thyroid Hormone Resistance, Generalized, Autosomal Dominant:



Diseases related to Thyroid Hormone Resistance, Generalized, Autosomal Dominant

Symptoms & Phenotypes for Thyroid Hormone Resistance, Generalized, Autosomal Dominant

Human phenotypes related to Thyroid Hormone Resistance, Generalized, Autosomal Dominant:

31 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 31 HP:0000750
2 attention deficit hyperactivity disorder 31 HP:0007018
3 goiter 31 HP:0000853
4 impaired sensitivity to thyroid hormone 31 HP:0002930
5 increased circulating free t3 31 HP:0011788

Symptoms via clinical synopsis from OMIM:

56
Neck:
goiter

Endocrine:
thyroid hormone resistance
clinically euthyroid

Neuro:
delayed speech development
childhood attention deficit/hyperactivity disorder

Lab:
markedly increased serum thyroid hormone levels
normal or slightly increased serum thyrotropin (tsh)
normal response to administration of thyrotropin-releasing hormone (trh) and l-triiodothyronine

Clinical features from OMIM:

188570

MGI Mouse Phenotypes related to Thyroid Hormone Resistance, Generalized, Autosomal Dominant:

45 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.5 NR1H2 TG THRA THRB THRSP TRH
2 nervous system MP:0003631 9.28 NR1H2 SERPINA7 SLC16A2 TG THRA THRB

Drugs & Therapeutics for Thyroid Hormone Resistance, Generalized, Autosomal Dominant

Drugs for Thyroid Hormone Resistance, Generalized, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 1, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones

Interventional clinical trials:

(showing 2, show less)
# Name Status NCT ID Phase Drugs
1 Evaluation of Patients With Thyroid Function Disorders Recruiting NCT00001159
2 The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism Withdrawn NCT01223638

Search NIH Clinical Center for Thyroid Hormone Resistance, Generalized, Autosomal Dominant

Cochrane evidence based reviews: thyroid hormone resistance syndrome

Genetic Tests for Thyroid Hormone Resistance, Generalized, Autosomal Dominant

Genetic tests related to Thyroid Hormone Resistance, Generalized, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Thyroid Hormone Resistance 29
2 Thyroid Hormone Resistance, Generalized, Autosomal Dominant 29 THRB

Anatomical Context for Thyroid Hormone Resistance, Generalized, Autosomal Dominant

MalaCards organs/tissues related to Thyroid Hormone Resistance, Generalized, Autosomal Dominant:

40
Thyroid, Pituitary, Bone, Heart, T Cells, Testis, Testes

Publications for Thyroid Hormone Resistance, Generalized, Autosomal Dominant

Articles related to Thyroid Hormone Resistance, Generalized, Autosomal Dominant:

(showing 324, show less)
# Title Authors PMID Year
1
A new point mutation in the 3,5,3'-triiodothyronine-binding domain of the c-erbA beta thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance. 61 56 6
1846005 1991
2
A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds. 61 56 6
2153155 1990
3
Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone. 56 6
16804041 2006
4
Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta. 56 6
2510172 1989
5
Familial generalized resistance to thyroid hormones: report of three kindreds and correlation of patterns of affected tissues with the binding of [125I] triiodothyronine to fibroblast nuclei. 56 6
3571851 1986
6
The thyroid hormone receptor-beta gene mutation R383H is associated with isolated central resistance to thyroid hormone. 54 61 6
10487671 1999
7
Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11 July 1993, Cambridge, UK. 54 61 6
8013151 1994
8
A point mutation (Ala229 to Thr) in the hinge domain of the c-erbA beta thyroid hormone receptor gene in a family with generalized thyroid hormone resistance. 54 61 6
1324420 1992
9
Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance. 54 61 6
1548332 1992
10
Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome. 54 61 6
1563081 1992
11
Single base mutation in the hormone binding domain of the thyroid hormone receptor beta gene in generalised thyroid hormone resistance demonstrated by single stranded conformation polymorphism analysis. 54 61 6
1677564 1991
12
Extreme thyroid hormone resistance in a patient with a novel truncated TR mutant. 61 6
11701667 2001
13
Identification of a novel mutation in the gene encoding the beta-triiodothyronine receptor in a patient with apparent selective pituitary resistance to thyroid hormone. 61 6
8384535 1993
14
Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two "hot spot" regions of the ligand binding domain. 61 6
1661299 1991
15
Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA beta gene. 61 56
2905763 1988
16
Resistance to thyroid hormones. A disorder frequently confused with Graves' disease. 61 56
6289763 1982
17
Familial thyroid hormone resistance. 61 6
7200565 1982
18
Familial thyroid hormone resistance. 61 56
6792914 1981
19
A targeted dominant negative mutation of the thyroid hormone alpha 1 receptor causes increased mortality, infertility, and dwarfism in mice. 6
11734632 2001
20
Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene. 56
10566629 1999
21
A novel TR beta mutation (R383H) in resistance to thyroid hormone syndrome predominantly impairs corepressor release and negative transcriptional regulation. 6
9605924 1998
22
Resistance to thyroid hormone caused by two mutant thyroid hormone receptors beta, R243Q and R243W, with marked impairment of function that cannot be explained by altered in vitro 3,5,3'-triiodothyroinine binding affinity. 6
9141558 1997
23
Deoxyribonucleic acid binding and transcriptional silencing by a truncated c-erbA beta 1 thyroid hormone receptor identified in a severely retarded patient with resistance to thyroid hormone. 6
9100577 1997
24
Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor. 56
8954015 1996
25
New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized resistance to thyroid hormone. 6
8664910 1996
26
A novel point mutation (R243Q) in exon 7 of the c-erbA beta thyroid hormone receptor gene in a family with resistance to thyroid hormone. 6
8563471 1995
27
Phenotypic variability in patients with generalised resistance to thyroid hormone. 6
7616549 1995
28
Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene. 6
8040303 1994
29
A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone. 6
8175986 1994
30
Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families. 6
8514853 1993
31
The syndromes of resistance to thyroid hormone. 56
8319599 1993
32
Pituitary resistance to thyroid hormone associated with a base mutation in the hormone-binding domain of the human 3,5,3'-triiodothyronine receptor-beta. 6
8496318 1993
33
Attention deficit-hyperactivity disorder in people with generalized resistance to thyroid hormone. 56
8450877 1993
34
Correlations of language abnormalities with localization of mutations in the beta-thyroid hormone receptor in 13 kindreds with generalized resistance to thyroid hormone: identification of four new mutations. 6
1400869 1992
35
A point mutation in the 3,5,3'-triiodothyronine-binding domain of thyroid hormone receptor-beta associated with a family with generalized resistance to thyroid hormone. 6
1619012 1992
36
An arginine to histidine mutation in codon 315 of the c-erbA beta thyroid hormone receptor in a kindred with generalized resistance to thyroid hormones results in a receptor with significant 3,5,3'-triiodothyronine binding activity. 6
1314846 1992
37
A point mutation of the T3 receptor beta 1 gene in a kindred of generalized resistance to thyroid hormone. 6
1587388 1992
38
Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation. 6
1991834 1991
39
Structural analysis of human thyroid hormone receptor beta gene. 6
1973914 1990
40
The c-erb-A gene encodes a thyroid hormone receptor. 6
2879243 1986
41
Familial partial peripheral and pituitary resistance to thyroid hormone: a frequently missed diagnosis? 56
3097618 1986
42
Familial euthyroid hyperthyroxinemia secondary to pituitary and peripheral resistance to thyroid hormones. 56
2981377 1985
43
Euthyroid, familial hyperthyroxinemia. 56
7366688 1980
44
Familial partial target organ resistance to thyroid hormones. 56
60346 1976
45
Thyrotropin-induced hyperthyroidism caused by selective pituitary resistance to thyroid hormone. A new syndrome of "inappropriate secretion of TSH". 6
1159077 1975
46
A novel mutation of thyroid hormone receptor beta (I431V) impairs corepressor release, and induces thyroid hormone resistance syndrome. 54 61
19169485 2008
47
A newly identified insertion mutation in the thyroid hormone receptor-beta gene in a Korean family with generalized thyroid hormone resistance. 54 61
17596672 2007
48
Thyroid hormone resistance without mutations in thyroid hormone receptor beta. 54 61
17534237 2007
49
[Study on TR beta gene mutation in a thyroid hormone resistance syndrome family]. 54 61
16883531 2006
50
DNA-based diagnosis of thyroid hormone resistance syndrome: a novel THRB mutation associated with mild resistance to thyroid hormone. 54 61
15913586 2005
51
Thyroid hormone receptor mutations and disease: beyond thyroid hormone resistance. 54 61
15860414 2005
52
[Familial generalized thyroid hormone resistance. Report of one case]. 54 61
15543767 2004
53
Thyroid hormone resistance in the heart: role of the thyroid hormone receptor beta isoform. 54 61
14684607 2004
54
The novel missense mutation methionine 442 threonine in the thyroid hormone receptor beta causes thyroid hormone resistance: a case report. 54 61
15031774 2004
55
Follow-up of newborns with elevated screening T4 concentrations. 54 61
14517508 2003
56
Neonatal thyrotoxicosis and maternal infertility in thyroid hormone resistance due to a mutation in the TRbeta gene (M313T). 54 61
12201835 2002
57
Structural basis for antagonist-mediated recruitment of nuclear co-repressors by PPARalpha. 54 61
11845213 2002
58
The thyrotropin-releasing hormone gene 1998: cloning, characterization, and transcriptional regulation in the central nervous system, heart, and testis. 54 61
9827656 1998
59
Regulation of the human TRH (hTRH) gene by human thyroid hormone receptor beta 1 (hTR beta 1) mutants. 54 61
9430820 1997
60
Identification and characterization of a novel de novo mutation (L346V) in the thyroid hormone receptor beta gene in a family with generalized thyroid hormone resistance. 54 61
9368505 1997
61
Enhanced levels of wild-type versus mutant thyroid hormone receptor beta 1 messenger RNA in fibroblasts from heterozygotes of kindred S with thyroid hormone resistance. 54 61
8837325 1996
62
Periodically hyperthyroid phenotype in thyroid hormone resistance is associated with mutation D322N in the thyroid hormone receptor beta gene: transcriptional properties of the mutant and the role of retinoid X receptor. 54 61
8981016 1996
63
Mild resistance to thyroid hormone with a truncated thyroid hormone receptor beta. 54 61
8886752 1996
64
Clinical utility of sex hormone-binding globulin measurement. 54 61
8964574 1996
65
Spectrum of transcriptional, dimerization, and dominant negative properties of twenty different mutant thyroid hormone beta-receptors in thyroid hormone resistance syndrome. 54 61
7838159 1994
66
Nomenclature of thyroid hormone receptor-beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11th July 1993, Cambridge, UK. 54 61
8162176 1994
67
Nomenclature of thyroid hormone receptor beta-gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, United Kingdom. 54 61
8157732 1994
68
[Point mutation of T3 receptor-beta gene and syndrome of inappropriate secretion of TSH]. 54 61
8196183 1994
69
Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11th 1993, Cambridge, U.K. 54 61
8054858 1994
70
Thyroid hormone receptor dimerization is required for dominant negative inhibition by mutations that cause thyroid hormone resistance. 54 61
8340402 1993
71
Characterization of a novel mutant human thyroid hormone receptor beta in a family with hereditary thyroid hormone resistance. 54 61
8435883 1993
72
Spectrum of serum thyroglobulin elevation in congenital thyroid disorders. 54 61
8388753 1993
73
Kindred S thyroid hormone receptor is an active and constitutive silencer and a repressor for thyroid hormone and retinoic acid responses. 54 61
1359543 1992
74
Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene. 54 61
1727829 1992
75
The thyroid hormone receptors: molecular basis of thyroid hormone resistance. 54 61
1306518 1992
76
Sex hormone-binding globulin measurement in patients with inappropriate secretion of thyrotropin (IST): evidence against selective pituitary thyroid hormone resistance in nonneoplastic IST. 54 61
2370293 1990
77
Thyroid Homeostasis After Bariatric Surgery in Obese Cases. 61
31617112 2020
78
Structural insights revealed by two novel THRB mutations. 61
31902113 2020
79
A 2019 update on TSH-secreting pituitary adenomas. 61
31175617 2019
80
Identification of a novel mutation in the thyroid hormone receptor β gene that causes thyroid hormone resistance syndrome: A case report. 61
31702019 2019
81
Unraveling the Molecular Basis for Successful Thyroid Hormone Replacement Therapy: The Need for New Thyroid Tissue- and Pathway-Specific Biomarkers. 61
31590191 2019
82
Novel thyroid hormones. 61
31327156 2019
83
Revealing a Mutant-Induced Receptor Allosteric Mechanism for the Thyroid Hormone Resistance. 61
31655060 2019
84
Thyroid hormone resistance from newborns to adults: a Spanish experience. 61
30707410 2019
85
[Differential diagnosis between autoimmune thyrotoxicosis and thyroid hormone resistance syndrome: clinical case report]. 61
31271711 2019
86
A Rare Case of Partial Peripheral Thyroid Hormone Resistance Due to a Point Mutation in the Membrane Integrin Α(V)Β(3) and Concomitant Hashimoto`s Thyroiditis. 61
31406543 2019
87
A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance. 61
30747412 2019
88
Thyroid hormone resistance and the value of genetics: Three case reports. 61
30817595 2019
89
New Case of Thyroid Hormone Resistance α Caused by a Mutation of THRA/TRα1. 61
30842990 2019
90
[Hashimoto thyroiditis, therapeutic options and extrathyroidal options - an up-to-date overview]. 61
30919217 2019
91
Challenging diagnosis of thyroid hormone resistance initially as Hashimoto's thyroiditis. 61
30681972 2019
92
Genomic test ends a long diagnostic odyssey in a patient with resistance to thyroid hormones. 61
31341516 2019
93
Syndromes of Resistance to Thyroid Hormone Action. 61
31588528 2019
94
Role of Leucine 341 in Thyroid Hormone Receptor Beta Revealed by a Novel Mutation Causing Thyroid Hormone Resistance. 61
30362879 2018
95
The role of functional thyroid capacity in pituitary thyroid feedback regulation. 61
30022470 2018
96
Pituitary resistance to thyroid hormone caused by a novel mutation (H435A) in the thyroid hormone receptor beta: A case report. 61
29794730 2018
97
The Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone. 61
30693116 2018
98
Thyroid Hormone Resistance in Identical Twin Sisters with Atrial Fibrillation: Case Report and Review of the Literature. 61
30148208 2018
99
[Clinical characteristics of thyroid hormone resistance syndrome in two cases with different subtypes]. 61
29262478 2017
100
Dityrosine administration induces dysfunction of insulin secretion accompanied by diminished thyroid hormones T3 function in pancreas of mice. 61
28624907 2017
101
Gene expression of T3-regulated genes in a mouse model of the human thyroid hormone resistance. 61
27919825 2017
102
Thyroid hormone resistance syndrome - own experiences. 61
29574474 2017
103
Thyroid dysfunction in obese and overweight children. 61
28255980 2017
104
Evaluation and Management of Children with Thyrotoxicosis. 61
29589552 2017
105
Thyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor β gene: Report of one Chinese pedigree and review of the literature. 61
27537566 2016
106
Familial dysalbuminaemic hyperthyroxinaemia: a rapid and novel mass spectrometry approach to diagnosis. 61
26169058 2016
107
[Impaired sensitivity to thyroid hormone]. 61
27094663 2016
108
Not all elevated hormones are toxic: A case of thyroid hormone resistance. 61
27843862 2016
109
Thyroid hormone resistance and its management. 61
27034574 2016
110
Coexistence of thyroid hormone resistance syndrome, pituitary adenoma and Graves' disease. 61
26786783 2016
111
Cortical excitability in patients with resistance to thyroid hormone compared to patients with hypothyroidism and euthyroid controls: a transcranial magnetic stimulation study. 61
27918064 2016
112
[Sex Specificity in Age-Related Thyroid Hormone Responsiveness]. 61
27192800 2016
113
The expanding spectrum of thyroid hormone resistance concerns the entire medical field. 61
26615083 2015
114
Description of the thyroid hormone resistance syndrome illustrated by such a case, which had two different carcinomas and was mistreated with iodine-131. 61
26637504 2015
115
Thyroid hormone resistance in two patients with papillary thyroid microcarcinoma and their BRAFV600E mutation status. 61
26331327 2015
116
Treatment of congenital thyroid dysfunction: Achievements and challenges. 61
26051299 2015
117
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA). 61
25670821 2015
118
Rare thyroid non-neoplastic diseases. 61
25908941 2015
119
TSH-secreting pituitary adenoma: benefits of pre-operative octreotide. 61
26113979 2015
120
A case of thyroid hormone resistance: a rare mutation. 61
25627054 2014
121
[Thyroid hormone resistance may course hypotonia in infancy]. 61
25497665 2014
122
The different requirement of L-T4 therapy in congenital athyreosis compared with adult-acquired hypothyroidism suggests a persisting thyroid hormone resistance at the hypothalamic-pituitary level. 61
25305309 2014
123
Diabetes mellitus in a girl with thyroid hormone resistance syndrome: a little recognized interaction between the two diseases. 61
25402385 2014
124
[Incidental finding: elevated TSH level]. 61
25204533 2014
125
[Thyroid hormone resistance (THR): a case report]. 61
25275849 2014
126
Thyroid hormone resistance due to a novel THRß mutation. 61
24833079 2014
127
A rare thyroid hormone receptor beta (THRβ) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: a case report. 61
24393243 2014
128
Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: consequences of LT4 treatment. 61
23633213 2013
129
Thyroid hormone resistance: a novel mutation in thyroid hormone receptor beta (THRB) gene - case report. 61
24217081 2013
130
The first case of association between postpartum thyroiditis and thyroid hormone resistance in an Italian patient showing a novel p.V283A THRB mutation. 61
23134553 2013
131
Thyroid hormone resistance caused by a novel deleterious variant of the thyroid hormone receptor beta gene. 61
23195042 2013
132
[Tachycardia-induced cardiomyopathy associated to thyroid hormone resistance]. 61
22520168 2013
133
[TSH secreting adenoma of pituitary gland (TSHom) - rare cause of hyperthyroidism in pregnancy]. 61
23404323 2013
134
Immune thrombocytopenic purpura in a child with thyroid hormone resistance - a rare presentation. 61
23382302 2013
135
Multiple Hürthle cell adenomas in a patient with thyroid hormone resistance. 61
24683474 2013
136
Differentiated thyroid carcinoma in a girl with resistance to thyroid hormone management with triiodothyroacetic acid. 61
23457315 2013
137
Reduced L- and M- and increased S-cone functions in an infant with thyroid hormone resistance due to mutations in the THRβ2 gene. 61
22551329 2012
138
Plurihormone secreting pituitary macroadenoma masquerading as thyrotoxicosis: Clinical presentation and diagnostic challenges. 61
23565411 2012
139
Long-term 3,5,3'-triiodothyroacetic acid therapy in a child with hyperthyroidism caused by thyroid hormone resistance: pharmacological study and therapeutic recommendations. 61
22947347 2012
140
Perioperative management of a patient with thyroid hormone resistance who underwent total thyroidectomy for thyroid cancer. 61
22388929 2012
141
A two-day-old hyperthyroid neonate with thyroid hormone resistance born to a mother with well-controlled Graves' disease: a case report. 61
22905724 2012
142
ZNF764 haploinsufficiency may explain partial glucocorticoid, androgen, and thyroid hormone resistance associated with 16p11.2 microdeletion. 61
22577170 2012
143
Treatment with methimazole in a 3-year-old male with thyroid hormone resistance. 61
22538421 2012
144
A mutation in the thyroid hormone receptor alpha gene. 61
22168587 2012
145
Thyroid hormone resistance in identical twins. 61
20855287 2011
146
[Case report; thyroid hormone resistance found in a patient with neuroendocrine tumor]. 61
21899156 2011
147
[Impact of L-thyroxine replacement therapy on pituitary changes secondary to congenital primary hypothyroidism--three cases report]. 61
21870710 2011
148
Dichotomous responses to thyroid hormone treatment in a patient with primary hypothyroidism and thyroid hormone resistance. 61
21595517 2011
149
[Thyroid hormone resistance syndromes]. 61
21459689 2011
150
Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities. 61
21468521 2011
151
Endocrine regulation of longitudinal bone growth. 61
21865752 2011
152
Myxedema coma in a patient with subclinical hypothyroidism. 61
21058937 2011
153
[Manifestations and prognosis of thyrotropin-secreting pituitary adenomas: a case series of three patients]. 61
21074296 2010
154
Thyroid hormone resistance detected by routine neonatal screening. 61
21340159 2010
155
[A 46-year-old patient with atrial fibrillation, elevated thyroid hormones and normal thyrotropine]. 61
19902155 2010
156
Pituitary tumours: TSH-secreting adenomas. 61
19945025 2009
157
Thyroxine autoantibody interference is an uncommon cause of inappropriate TSH secretion using the Immulite 2000 assay. 61
19361452 2009
158
Thyroid hormone receptor β mediates acute illness-induced alterations in central thyroid hormone metabolism. 61
19302190 2009
159
Thyroid hormone resistance and pituitary enlargement after thyroid ablation in a woman on levothyroxine treatment. 61
18816177 2008
160
Marked hyperthyroxinemia during amiodarone treatment revealing thyroid hormone resistance syndrome. 61
18724828 2008
161
Thyroid hormone resistance. 61
18940949 2008
162
Case report: thyroid hormone resistance and its therapeutic challenges. 61
18622209 2008
163
Only subtle protein conformational adaptations are required for ligand binding to thyroid hormone receptors: simulations using a novel multipoint steered molecular dynamics approach. 61
18681473 2008
164
Proposing a causal link between thyroid hormone resistance and primary autoimmune hypothyroidism. 61
17919833 2008
165
Asymptomatic hyperthyroidism in older adults: is it a distinct clinical and laboratory entity? 61
18447402 2008
166
[Thyroid hormone resistance (Refetoff syndrome) incidentally found in a patient with primary hyperparathyroidism]. 61
17802723 2007
167
A case of thyroid hormone resistance: Prospective follow-up during pregnancy and obstetric outcome. 61
17449404 2007
168
Endothelial dysfunction in a murine model of thyroid hormone resistance. 61
17461985 2007
169
On commonness and rarity of thyroid hormone resistance: a discussion based on mechanisms of reduced sensitivity in peripheral tissues. 61
17383828 2007
170
Thyroid hormone transporter defects. 61
17684393 2007
171
Thyroid hormone transporters. 61
18174701 2007
172
Single-dose rexinoid rapidly and specifically suppresses serum thyrotropin in normal subjects. 61
17062760 2007
173
Thyroid hormone resistance: the role of mutational analysis. 61
17040361 2006
174
Thyroid hormone resistance. 61
17132274 2006
175
A hyperthyroid patient with measurable thyroid-stimulating hormone concentration - a trap for the unwary. 61
16902728 2006
176
[Thyroid hormone resistance syndrome]. 61
16708644 2006
177
Cross-talk between thyroid hormone receptor and liver X receptor regulatory pathways is revealed in a thyroid hormone resistance mouse model. 61
16260782 2006
178
Pituitary thyroid resistance syndrome. 61
16515117 2005
179
[Molecular diagnostics in endocrine diseases]. 61
16276381 2005
180
Syndromes of thyroid hormone resistance. 61
15988389 2005
181
Thyroid hormone receptor binding to DNA and T3-dependent transcriptional activation are inhibited by uremic toxins. 61
15807894 2005
182
Resistance to thyroid hormone in a Chinese family with R429Q mutation in the thyroid hormone receptor beta gene. 61
15815068 2005
183
Cardiac glucose utilization in mice with mutated alpha- and beta-thyroid hormone receptors. 61
15304375 2004
184
Attention deficit and hyperactivity disorders in the offspring of mothers exposed to mild-moderate iodine deficiency: a possible novel iodine deficiency disorder in developed countries. 54
15579758 2004
185
Severe form of thyroid hormone resistance in a patient with homozygous/hemizygous mutation of T3 receptor gene. 61
15191352 2004
186
Retarded bone growth in thyroid hormone resistance. A clinical study of a large family with a novel thyroid hormone receptor mutation. 61
15080770 2004
187
[Thyroid hormone resistance syndrome]. 61
15611821 2004
188
Thyroid hormone resistance and enlargement of the sella turcica during pregnancy. 61
14648184 2004
189
Multi-tissue gene-expression analysis in a mouse model of thyroid hormone resistance. 61
15128445 2004
190
Thyroid Hormone Resistance in children. 61
16444158 2003
191
Successful therapy with L-T4 in a 5 year-old boy with generalized thyroid hormone resistance. 61
14513884 2003
192
A metabolic basis for fibromyalgia and its related disorders: the possible role of resistance to thyroid hormone. 61
12888300 2003
193
Thyroid hormone resistance and pregnancy. 61
12798486 2003
194
Dynamic thyroid stimulating hormone tests: do they still have a role? 61
14604064 2003
195
Atrial fibrillation and mitral prolapse in a subject affected by Refetoff syndrome. 61
12032470 2002
196
Cardiac involvement in thyroid hormone resistance. 61
11788648 2002
197
Review: molecular thyroidology. 61
11508826 2001
198
Effects of thyroid hormones on cardiac structure: a tissue characterization study in patients with thyroid disorders before and after treatment. 61
11484889 2001
199
Clinical, metabolic, and organ-specific indices of thyroid function. 61
11444169 2001
200
A pituitary tumor in a patient with thyroid hormone resistance: a diagnostic dilemma. 61
11327621 2001
201
Generalized resistance to thyroid hormone associated with possible selective cardiac nonresistance. 61
11141590 2000
202
The hypothalamic-pituitary-thyroid negative feedback control axis in children with treated congenital hypothyroidism. 61
10946871 2000
203
Thyroid hormone resistance and increased metabolic rate in the RXR-gamma-deficient mouse. 61
10880050 2000
204
Quantitative assessment of pituitary resistance to thyroid hormone from plots of the logarithm of thyrotropin versus serum free thyroxine index. 61
10852467 2000
205
Maturation of human hypothalamic-pituitary-thyroid function and control. 61
10779137 2000
206
Abnormally high TSH in subject with thyrotoxicosis affected by congenital hypothyroidism. Case report. 61
11148847 2000
207
[Thyroid diseases: molecular diagnosis and therapeutic perspectives]. 61
10705782 2000
208
Transcriptional repression by nuclear receptors: mechanisms and role in disease. 61
10961926 2000
209
[Thyroid hormone resistance syndromes: clinical aspects]. 61
10635073 1999
210
[Thyroid hormone receptors and thyroid hormone resistance]. 61
10581800 1999
211
Altered thyroid hormone binding to plasma lipoproteins in the syndrome of resistance to thyroid hormones. 61
10403188 1999
212
A case of familial euthyroid hyperthyroxinemia--thyroid hormone resistance syndrome? 61
10999134 1999
213
Prenatal diagnosis of thyroid hormone resistance. 61
10022392 1999
214
Novel insight from transgenic mice into thyroid hormone resistance and the regulation of thyrotropin. 61
9916139 1999
215
[Structure of the retinoic acid receptor and its functional analysis using a mutated receptor]. 61
9702042 1998
216
Clues to a possible new variant of thyroid hormone resistance. 61
9703372 1998
217
[Thyroid hormone resistance. Clinical, biochemical and genetic study of a family]. 61
9520578 1998
218
[Thyroid hormone resistance: variable clinical manifestations in five patients]. 61
9441285 1997
219
Clinical and hormonal outcome after two years of triiodothyroacetic acid treatment in a child with thyroid hormone resistance. 61
9349583 1997
220
Thyroid function in Rubinstein-Taybi syndrome. 61
9329350 1997
221
Serum levels of carboxyterminal cross-linked telopeptide of type I collagen (ICTP) in the differential diagnosis of the syndromes of inappropriate secretion of TSH. 61
9302396 1997
222
Thyroid hormone resistance syndrome manifests as an aberrant interaction between mutant T3 receptors and transcriptional corepressors. 61
9092799 1997
223
Radioiodine therapy for Graves' disease: case selection and restrictions recommended to patients in North America. 61
9133687 1997
224
Difficulty in differentiating thyrotropin secreting pituitary microadenoma from pituitary-selective thyroid hormone resistance accompanied by pituitary incidentaloma. 61
9001198 1996
225
[Syndromes of thyroid hormone resistance]. 61
9156947 1996
226
Thyrotropin-secreting pituitary adenomas. 61
8769389 1996
227
Identification of a novel mutation (A268G) in exon 8 of the HTR beta gene in a large family with thyroid hormone resistance. 61
8956060 1996
228
Theoretical basis and application of molecular diagnostics. 61
8981011 1996
229
Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: detection of two novel mutations. 61
8889584 1996
230
Etiology and outcome of non-estrogen associated hyperthyroxinemia in euthyroid patients at the San Juan City Hospital. 61
8885441 1996
231
Familial dysalbuminemic hyperthyroxinemia in pregnancy. 61
8548059 1995
232
Thyroid dysfunction: an adolescent gynecologic perspective. 61
8541455 1995
233
Advances in the management of patients with thyroid disease. 61
7570041 1995
234
Thyroid hormone receptor homodimers can function as ligand-sensitive repressors. 61
7565804 1995
235
[Thyroid hormone resistance. Rare cause of recurrence following goiter resection]. 61
7851294 1995
236
2nd International Workshop on Thyroid Hormone Resistance. 61
27518413 1995
237
Familial dysalbuminemic hyperthyroxinemia: cumulative experience in 29 consecutive patients. 61
15251607 1995
238
[Peripheral thyroid hormone resistance]. 61
7839517 1994
239
Variable biological activity of thyroid-stimulating hormone. 61
7921220 1994
240
Resistance to thyroid hormone in children. 61
7951671 1994
241
Alteration of a single amino acid residue in retinoic acid receptor causes dominant-negative phenotype. 61
7913468 1994
242
Evidence for the secretion of thyrotropin with enhanced bioactivity in syndromes of thyroid hormone resistance. 61
8175956 1994
243
Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone. First workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, U.K. 61
7930382 1994
244
[Diagnosis of thyroid hormone resistance by molecular biology]. 61
8196182 1994
245
Hormone-nuclear receptor interactions in health and disease. Thyroid hormone resistance. 61
8092973 1994
246
Analysis of the binding of 3,3',5-triiodo-L-thyronine and its analogues to mutant human beta 1 thyroid hormone receptors: a model of the hormone binding site. 61
8155649 1994
247
Thyroid function and attention-deficit hyperactivity disorder. 61
8150787 1994
248
Generalized thyroid hormone resistance due to a deletion of the carboxy terminus of the c-erbA beta receptor. 61
8187964 1994
249
Developmental regulation of the thyroid hormone receptor alpha 1 mRNA expression in the rat testis. 61
8152433 1994
250
The variable clinical phenotype in thyroid hormone resistance syndrome. 61
7920008 1994
251
Absence of thyroid hormone resistance in vitamin D-;resistant new world primates. 61
31936922 1994
252
[Questions and answers on the epidemiology and etiology of goiter]. 61
8147028 1993
253
[Syndrome of resistance to thyroid hormones]. 61
8115332 1993
254
Competitive polymerase chain reaction quantitation of c-erbA beta 1, c-erbA alpha 1, and c-erbA alpha 2 messenger ribonucleic acid levels in normal, heterozygous, and homozygous fibroblasts of kindred S with thyroid hormone resistance. 61
8408473 1993
255
Thyroid hormone resistance syndrome: correlation of dominant negative activity and location of mutations. 61
8408475 1993
256
[Pituitary resistance to thyroid hormone]. 61
8254947 1993
257
[Thyroid hormone resistance. A significant cause of attention deficit, ADHD/DAMP?]. 61
8377557 1993
258
Dominant and nondominant negative C-erbA beta 1 receptors associated with thyroid hormone resistance syndromes augment 12-O-tetradecanoyl-phorbol-13-acetate induction of the collagenase promoter and exhibit defective 3,5,3'-triiodothyronine-mediated repression. 61
8247013 1993
259
Relation between phenotype and intra-cellular thyroid hormone effect in patients with altered peripheral thyroid hormone sensitivity. 61
8348709 1993
260
[Genetic analysis of hormone resistance]. 61
8350516 1993
261
Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone. 61
8486789 1993
262
Thyroid hormone resistance syndromes. 61
8475937 1993
263
Thyroid hormone resistance syndromes--are generalized and selective pituitary resistance part of the same disorder? 61
8458094 1993
264
An arginine to histidine mutation in codon 311 of the C-erbA beta gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype. 61
8381821 1993
265
[Thyroid hormone resistance]. 61
7757576 1993
266
[Thyroid hormone resistance]. 61
8459619 1993
267
Multiple genetic factors in the heterogeneity of thyroid hormone resistance. 61
8421095 1993
268
Urinary cortisol metabolites in the assessment of peripheral thyroid hormone action: application for diagnosis of resistance to thyroid hormone. 61
8257864 1993
269
Efficacy of bromocriptine administration for selective pituitary resistance to thyroid hormone. 61
8314208 1993
270
Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene. 61
1430233 1992
271
Refractoriness at peripheral and pituitary receptors in general and pituitary types of thyroid hormone resistance. 61
1464415 1992
272
Generalized thyroid hormone resistance: identification of an arginine to cystine mutation in codon 315 of the c-erb A beta thyroid hormone receptor. 61
1358935 1992
273
Thyroid hormone resistance: pathophysiology at the molecular level. 61
1548331 1992
274
Thyroid hormone resistance. 61
1580595 1992
275
Pituitary resistance to thyroid hormones. 61
1306520 1992
276
Thyroid hormone generalized resistance. 61
1306519 1992
277
Dextrothyroxine in the treatment of generalized thyroid hormone resistance in a boy homozygous for a defect in the T3 receptor. 61
1525565 1992
278
[Molecular biology and laboratory diagnosis of hypothalamic-pituitary-thyroid axis]. 61
1779466 1991
279
Hyperthyroidism due to familial pituitary resistance to thyroid hormone: successful control with 3, 5, 3' triiodothyroacetic associated to propranolol. 61
1774450 1991
280
Thyroid hormone resistance syndrome. Inhibition of normal receptor function by mutant thyroid hormone receptors. 61
2040690 1991
281
Tight linkage of the human c-erbA beta gene with the syndrome of generalized thyroid hormone resistance is present in multiple kindreds. 61
1677017 1991
282
A homozygous deletion in the c-erbA beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor. 61
1653889 1991
283
Syndromes of thyroid hormone resistance. 61
2036732 1991
284
Molecular diagnosis and characterization of thyroid hormone resistance syndromes. 61
1668726 1991
285
Decreased thyroid hormone-stimulated oxygen consumption and glucose uptake in mononuclear blood cells from patients with autosomal dominant osteopetrosis type I. 61
2034033 1991
286
Diverse abnormalities of the c-erbA beta thyroid hormone receptor gene in generalized thyroid hormone resistance. 61
1810141 1991
287
Dominant negative transcriptional regulation by a mutant thyroid hormone receptor-beta in a family with generalized resistance to thyroid hormone. 61
2082193 1990
288
Thyroid hormone and DNA binding properties of a mutant c-erbA beta receptor associated with generalized thyroid hormone resistance. 61
2169728 1990
289
[Thyroid hormone resistance syndromes]. 61
2230470 1990
290
[Serum sex hormone-binding globulin levels in thyroid diseases]. 61
2392320 1990
291
Metabolic and cardiovascular responses to exogenous triiodothyronine favour nontreatment of a girl with familial receptor-positive thyroid hormone resistance. 61
2321481 1990
292
Relationship between serum free thyroid hormone concentrations and target organ responsiveness in thyroid disease patients before and after treatment. 61
2633409 1989
293
A domain containing leucine-zipper-like motifs mediate novel in vivo interactions between the thyroid hormone and retinoic acid receptors. 61
2558297 1989
294
Syndrome of resistance to thyroid hormone in an infant with congenital cytomegalovirus infection. 61
2558491 1989
295
Kinetics of triiodothyronine uptake by erythrocytes in hyperthyroidism, hypothyroidism, and thyroid hormone resistance. 61
2753979 1989
296
3,5,3'-triiodothyroacetic acid therapy for thyroid hormone resistance. 61
2753985 1989
297
Thyroid hormone resistance in a large kindred: physiologic, biochemical, pharmacologic, and neuropsychologic studies. 61
2919610 1989
298
A case of refetoff syndrome: selective venous sampling for TSH is useful in differentiating thyroid hormone resistance from TSH secreting tumor. 61
2711378 1989
299
Thyroid hormone resistance in blood monocyte cells and elevated serum T3 in patients with autosomal dominant osteopetrosis. 61
3238324 1988
300
Familial generalised resistance to thyroxine: case study. 61
3137512 1988
301
[Thyroid-hormone resistance syndromes]. 61
3041523 1988
302
Effects of thyroid hormones (T4,T3), bromocriptine and Triac on inappropriate TSH hypersecretion. 61
3214942 1988
303
[Syndromes of thyroid hormone resistance--Refetoff syndromes]. 61
3270906 1988
304
Characterization of a thyroid hormone receptor expressed in human kidney and other tissues. 61
3357890 1988
305
Thyroid hormone resistance in hibernating ground squirrels, Spermophilus richardsoni. II. Reduction of hepatic nuclear receptors. 61
3360294 1988
306
Thyroid hormone resistance in hibernating ground squirrels, Spermophilus richardsoni. I. Increased binding of triiodo-L-thyronine and L-thyroxine by serum proteins. 61
3360293 1988
307
Syndromes of thyroid hormone resistance. 61
3051836 1988
308
Active transport of L-tri-iodothyronine through the red cell plasma membrane--true or false? 61
3576121 1987
309
Empty sella associated with inappropriate TSH secretion. 61
3561704 1987
310
Sex hormone-binding protein in hyperthyroxinemic patients: a discriminator for thyroid status in thyroid hormone resistance and familial dysalbuminemic hyperthyroxinemia. 61
3084540 1986
311
Serum ferritin as a marker of thyroid hormone action on peripheral tissues. 61
4031012 1985
312
Central hypothyroidism and hyperthyroidism. 61
3932791 1985
313
Decreased nuclear uptake of [125I]triiodo-L-thyronine in fibroblasts from patients with peripheral thyroid hormone resistance. 61
6092406 1984
314
Resistance of peripheral tissues and pituitary to thyroid hormone. 61
6440779 1984
315
Serum thyrotropin and more accurate diagnosis of "thyroid hormone resistance". 61
6414738 1983
316
Peripheral resistance to thyroid hormone in a family: heterogeneity of clinical presentation. 61
6410033 1983
317
Thyroid hormone resistance in a 35-year old man with recurrent goitre. 61
7156868 1982
318
Syndromes of thyroid hormone resistance. 61
6287848 1982
319
Defective thyroid hormone action in fibroblasts cultured from subjects with the syndrome of resistance to thyroid hormones. 61
7037814 1982
320
Thyroid hormone binding to putative nuclear receptors in human mononuclear blood cells. 61
6284102 1982
321
Peripheral resistance to thyroid hormone in an infant. 61
6793616 1981
322
Familial inappropriate TSH secretion: evidence suggesting a dissociated pituitary resistance to T3 and T4. 61
6801107 1981
323
Partial peripheral resistance to thyroid hormone. 61
7234877 1981
324
Thyroid hormone resistance. 61
6263170 1980

Variations for Thyroid Hormone Resistance, Generalized, Autosomal Dominant

ClinVar genetic disease variations for Thyroid Hormone Resistance, Generalized, Autosomal Dominant:

6 (showing 176, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 THRB NM_001354712.2(THRB):c.964G>C (p.Asp322His)SNV Pathogenic 12541 rs121918700 3:24169170-24169170 3:24127679-24127679
2 THRB NM_001354712.2(THRB):c.1033G>C (p.Gly345Arg)SNV Pathogenic 12535 rs121918686 3:24169101-24169101 3:24127610-24127610
3 THRB NM_001354712.2(THRB):c.1020G>C (p.Gln340His)SNV Pathogenic 12536 rs121918688 3:24169114-24169114 3:24127623-24127623
4 THRB NM_001354712.2(THRB):c.1358C>A (p.Pro453His)SNV Pathogenic 12537 rs121918687 3:24164403-24164403 3:24122912-24122912
5 THRB NM_001354712.2(THRB):c.929T>C (p.Met310Thr)SNV Pathogenic 12540 rs121918699 3:24169205-24169205 3:24127714-24127714
6 THRB NM_001354712.2(THRB):c.949G>A (p.Ala317Thr)SNV Pathogenic 12542 rs121918690 3:24169185-24169185 3:24127694-24127694
7 THRB NM_001354712.2(THRB):c.1034G>A (p.Gly345Asp)SNV Pathogenic 12544 rs28999970 3:24169100-24169100 3:24127609-24127609
8 THRB NM_001354712.2(THRB):c.1034G>T (p.Gly345Val)SNV Pathogenic 12545 rs28999970 3:24169100-24169100 3:24127609-24127609
9 THRB NM_001354712.2(THRB):c.1040G>A (p.Gly347Glu)SNV Pathogenic 12546 rs28999971 3:24169094-24169094 3:24127603-24127603
10 THRB NM_001354712.2(THRB):c.700G>A (p.Ala234Thr)SNV Pathogenic 12554 rs121918694 3:24185030-24185030 3:24143539-24143539
11 THRB NM_001354712.2(THRB):c.958C>T (p.Arg320Cys)SNV Pathogenic 12557 rs121918696 3:24169176-24169176 3:24127685-24127685
12 THRB NM_001354712.2(THRB):c.1012C>T (p.Arg338Trp)SNV Pathogenic 12558 rs121918697 3:24169122-24169122 3:24127631-24127631
13 THRB NM_001354712.2(THRB):c.1313G>A (p.Arg438His)SNV Pathogenic 12559 rs121918698 3:24164448-24164448 3:24122957-24122957
14 THRB THRB, 1-BP INS, 1644Cinsertion Pathogenic 12560
15 THRB NM_001354712.2(THRB):c.1376T>G (p.Phe459Cys)SNV Pathogenic 12561 rs121918702 3:24164385-24164385 3:24122894-24122894
16 THRB NM_001354712.2(THRB):c.1336T>C (p.Cys446Arg)SNV Pathogenic 12563 rs121918703 3:24164425-24164425 3:24122934-24122934
17 THRB NM_001354712.2(THRB):c.1302C>A (p.Cys434Ter)SNV Pathogenic 12565 rs121918705 3:24164459-24164459 3:24122968-24122968
18 THRB NM_001354712.2(THRB):c.728G>A (p.Arg243Gln)SNV Pathogenic 12566 rs121918706 3:24185002-24185002 3:24143511-24143511
19 THRB NM_001354712.2(THRB):c.727C>T (p.Arg243Trp)SNV Pathogenic 12567 rs121918707 3:24185003-24185003 3:24143512-24143512
20 THRB NM_001354712.2(THRB):c.1148G>A (p.Arg383His)SNV Pathogenic 12568 rs121918708 3:24164613-24164613 3:24123122-24123122
21 THRB THRB, 1-BP DEL, CODON 438, Cdeletion Pathogenic 12570
22 THRB NM_001354712.2(THRB):c.1349T>A (p.Leu450His)SNV Pathogenic 12548 rs121918701 3:24164412-24164412 3:24122921-24122921
23 THRB THRB, 1-BP INS, 1627Cinsertion Pathogenic 12549
24 THRB NM_001354712.2(THRB):c.1357C>A (p.Pro453Thr)SNV Pathogenic 12550 rs28933408 3:24164404-24164404 3:24122913-24122913
25 THRB NM_001354712.2(THRB):c.1327A>G (p.Lys443Glu)SNV Pathogenic 12551 rs121918692 3:24164434-24164434 3:24122943-24122943
26 THRB NM_001354712.2(THRB):c.1033G>A (p.Gly345Ser)SNV Pathogenic 12552 rs121918686 3:24169101-24169101 3:24127610-24127610
27 THRB NM_001354712.2(THRB):c.1305T>G (p.His435Gln)SNV Pathogenic 437004 rs1553609185 3:24164456-24164456 3:24122965-24122965
28 THRB NM_001354712.2(THRB):c.1357C>T (p.Pro453Ser)SNV Pathogenic 439310 rs28933408 3:24164404-24164404 3:24122913-24122913
29 THRB NM_001354712.2(THRB):c.1378G>A (p.Glu460Lys)SNV Pathogenic 492926 rs1553609090 3:24164383-24164383 3:24122892-24122892
30 THRB NM_001354712.2(THRB):c.1358dup (p.Leu454fs)duplication Pathogenic 492925 rs1553609119 3:24164402-24164403 3:24122911-24122912
31 THRB NM_001354712.2(THRB):c.1357C>G (p.Pro453Ala)SNV Pathogenic 492924 rs28933408 3:24164404-24164404 3:24122913-24122913
32 THRB NM_001354712.2(THRB):c.1348C>T (p.Leu450Phe)SNV Pathogenic 492923 rs1553609152 3:24164413-24164413 3:24122922-24122922
33 THRB NM_001354712.2(THRB):c.1312C>T (p.Arg438Cys)SNV Pathogenic 492921 rs367757240 3:24164449-24164449 3:24122958-24122958
34 THRB NM_001354712.2(THRB):c.1312del (p.Arg438fs)deletion Pathogenic 492922 rs1553609179 3:24164449-24164449 3:24122958-24122958
35 THRB NM_001354712.2(THRB):c.1031G>A (p.Gly344Glu)SNV Pathogenic 492918 rs1553610974 3:24169103-24169103 3:24127612-24127612
36 THRB NM_001354712.2(THRB):c.980C>A (p.Thr327Asn)SNV Pathogenic 492917 rs1553611038 3:24169154-24169154 3:24127663-24127663
37 THRB NM_001354712.2(THRB):c.941C>T (p.Ser314Phe)SNV Pathogenic 492916 rs1553611075 3:24169193-24169193 3:24127702-24127702
38 THRB NM_001354712.2(THRB):c.938T>C (p.Met313Thr)SNV Pathogenic 492915 rs1553611083 3:24169196-24169196 3:24127705-24127705
39 THRB NM_001354712.2(THRB):c.928A>G (p.Met310Val)SNV Pathogenic 492914 rs1553611094 3:24169206-24169206 3:24127715-24127715
40 THRB NM_001354712.2(THRB):c.1326_1327delinsAT (p.Met442_Lys443delinsIleTer)indel Pathogenic 545656 rs1553609167 3:24164434-24164435 3:24122943-24122944
41 THRB NM_001354712.2(THRB):c.1286G>A (p.Arg429Gln)SNV Pathogenic 548123 rs1553609210 3:24164475-24164475 3:24122984-24122984
42 THRB NM_001354712.2(THRB):c.803C>G (p.Ala268Gly)SNV Pathogenic/Likely pathogenic 492912 rs750905761 3:24174889-24174889 3:24133398-24133398
43 THRB NM_001354712.2(THRB):c.1351T>G (p.Phe451Val)SNV Likely pathogenic 375302 rs1057519028 3:24164410-24164410 3:24122919-24122919
44 THRB NM_001354712.2(THRB):c.977A>G (p.Glu326Gly)SNV Likely pathogenic 397581 rs1060499695 3:24169157-24169157 3:24127666-24127666
45 THRB NM_001354712.2(THRB):c.1021C>G (p.Leu341Val)SNV Likely pathogenic 429021 rs1553610984 3:24169113-24169113 3:24127622-24127622
46 THRB NM_001354712.2(THRB):c.1033G>T (p.Gly345Cys)SNV Likely pathogenic 492919 rs121918686 3:24169101-24169101 3:24127610-24127610
47 THRB NM_001354712.2(THRB):c.1373T>C (p.Val458Ala)SNV Likely pathogenic 12564 rs121918704 3:24164388-24164388 3:24122897-24122897
48 THRB NM_001354712.2(THRB):c.1324A>G (p.Met442Val)SNV Likely pathogenic 12547 rs121918691 3:24164437-24164437 3:24122946-24122946
49 THRB NM_001354712.2(THRB):c.994G>A (p.Gly332Arg)SNV Conflicting interpretations of pathogenicity 12543 rs28999969 3:24169140-24169140 3:24127649-24127649
50 THRB NM_001354712.2(THRB):c.959G>A (p.Arg320His)SNV Conflicting interpretations of pathogenicity 12553 rs121918693 3:24169175-24169175 3:24127684-24127684
51 THRB NM_001354712.2(THRB):c.213C>A (p.Asp71Glu)SNV Conflicting interpretations of pathogenicity 344637 rs141495471 3:24231635-24231635 3:24190144-24190144
52 THRB NM_001354712.2(THRB):c.182C>A (p.Thr61Asn)SNV Uncertain significance 344638 rs886058292 3:24231666-24231666 3:24190175-24190175
53 THRB NM_001354712.2(THRB):c.126T>C (p.His42=)SNV Uncertain significance 344639 rs752303168 3:24231722-24231722 3:24190231-24190231
54 THRB NM_001354712.2(THRB):c.*243G>ASNV Uncertain significance 344633 rs761568064 3:24164132-24164132 3:24122641-24122641
55 THRB NM_001354712.2(THRB):c.-258C>ASNV Uncertain significance 344642 rs886058294 3:24378860-24378860 3:24337369-24337369
56 THRB NM_001354712.2(THRB):c.*5295C>TSNV Uncertain significance 344539 rs752819506 3:24159080-24159080 3:24117589-24117589
57 THRB NM_001354712.2(THRB):c.*1905A>GSNV Uncertain significance 344603 rs886058286 3:24162470-24162470 3:24120979-24120979
58 THRB NM_001354712.2(THRB):c.*1153C>GSNV Uncertain significance 344617 rs886058289 3:24163222-24163222 3:24121731-24121731
59 THRB NM_001354712.2(THRB):c.*1102G>ASNV Uncertain significance 344619 rs886058290 3:24163273-24163273 3:24121782-24121782
60 THRB NM_001354712.2(THRB):c.*2637G>ASNV Uncertain significance 344588 rs184507648 3:24161738-24161738 3:24120247-24120247
61 THRB NM_001354712.2(THRB):c.*1173A>CSNV Uncertain significance 344616 rs886058288 3:24163202-24163202 3:24121711-24121711
62 THRB NM_001354712.2(THRB):c.*5166G>CSNV Uncertain significance 344543 rs376751863 3:24159209-24159209 3:24117718-24117718
63 THRB NM_001354712.2(THRB):c.*5122A>CSNV Uncertain significance 344544 rs886058267 3:24159253-24159253 3:24117762-24117762
64 THRB NM_001354712.2(THRB):c.*3906_*3910deldeletion Uncertain significance 344567 rs559325556 3:24160465-24160469 3:24118974-24118978
65 THRB NM_001354712.2(THRB):c.*3906_*3910dupduplication Uncertain significance 344570 rs559325556 3:24160464-24160465 3:24118973-24118974
66 THRB NM_001354712.2(THRB):c.*3910deldeletion Uncertain significance 344569 rs559325556 3:24160465-24160465 3:24118974-24118974
67 THRB NM_001354712.2(THRB):c.*3910dupduplication Uncertain significance 344564 rs559325556 3:24160464-24160465 3:24118973-24118974
68 THRB NM_001354712.2(THRB):c.*3880deldeletion Uncertain significance 344572 rs886058278 3:24160495-24160495 3:24119004-24119004
69 THRB NM_001354712.2(THRB):c.*3288C>TSNV Uncertain significance 344579 rs886058281 3:24161087-24161087 3:24119596-24119596
70 THRB NM_001354712.2(THRB):c.1293A>G (p.Ile431Met)SNV Uncertain significance 492920 rs1553609195 3:24164468-24164468 3:24122977-24122977
71 THRB NM_001354712.2(THRB):c.1029T>G (p.Asn343Lys)SNV Uncertain significance 439307 rs1354053223 3:24169105-24169105 3:24127614-24127614
72 THRB NM_001354712.2(THRB):c.737T>C (p.Leu246Pro)SNV Uncertain significance 439311 rs1553616482 3:24184993-24184993 3:24143502-24143502
73 THRB NM_001354712.2(THRB):c.*4G>ASNV Uncertain significance 492927 rs777224982 3:24164371-24164371 3:24122880-24122880
74 THRB NM_001354712.2(THRB):c.*301G>ASNV Uncertain significance 344632 rs553434633 3:24164074-24164074 3:24122583-24122583
75 THRB NM_001354712.2(THRB):c.648C>T (p.Asp216=)SNV Uncertain significance 344636 rs143993214 3:24185082-24185082 3:24143591-24143591
76 THRB NM_001354712.2(THRB):c.-254G>ASNV Uncertain significance 344641 rs886058293 3:24378856-24378856 3:24337365-24337365
77 THRB NM_001354712.2(THRB):c.-385_-384GA[1]short repeat Uncertain significance 344644 rs886058295 3:24536264-24536265 3:24494773-24494774
78 THRB NM_001354712.2(THRB):c.-393T>CSNV Uncertain significance 344645 rs886058296 3:24536275-24536275 3:24494784-24494784
79 THRB NM_001354712.2(THRB):c.*5194A>GSNV Uncertain significance 344542 rs545003746 3:24159181-24159181 3:24117690-24117690
80 THRB NM_001354712.2(THRB):c.*4927G>ASNV Uncertain significance 344547 rs371837190 3:24159448-24159448 3:24117957-24117957
81 THRB NM_001354712.2(THRB):c.*3909_*3910dupduplication Uncertain significance 344565 rs559325556 3:24160464-24160465 3:24118973-24118974
82 THRB NM_001354712.2(THRB):c.*3880_*3885deldeletion Uncertain significance 344571 rs886058277 3:24160490-24160495 3:24118999-24119004
83 THRB NM_001354712.2(THRB):c.*2341C>TSNV Uncertain significance 344594 rs886058282 3:24162034-24162034 3:24120543-24120543
84 THRB NM_001354712.2(THRB):c.*2516A>GSNV Uncertain significance 344591 rs375476690 3:24161859-24161859 3:24120368-24120368
85 THRB NM_001354712.2(THRB):c.*983_*985TCT[2]short repeat Uncertain significance 344621 rs886058291 3:24163384-24163386 3:24121893-24121895
86 THRB NM_001354712.2(THRB):c.*5431T>ASNV Uncertain significance 344535 rs886058266 3:24158944-24158944 3:24117453-24117453
87 THRB NM_001354712.2(THRB):c.*3879deldeletion Uncertain significance 344573 rs886058279 3:24160496-24160496 3:24119005-24119005
88 THRB NM_001354712.2(THRB):c.*3572C>TSNV Uncertain significance 344575 rs886058280 3:24160803-24160803 3:24119312-24119312
89 THRB NM_001354712.2(THRB):c.*2182T>CSNV Uncertain significance 344598 rs886058284 3:24162193-24162193 3:24120702-24120702
90 THRB NM_001354712.2(THRB):c.*2030T>CSNV Uncertain significance 344601 rs886058285 3:24162345-24162345 3:24120854-24120854
91 THRB NM_001354712.2(THRB):c.*602G>ASNV Uncertain significance 344626 rs826373 3:24163773-24163773 3:24122282-24122282
92 THRB NM_001354712.2(THRB):c.*4920A>GSNV Uncertain significance 344548 rs886058268 3:24159455-24159455 3:24117964-24117964
93 THRB NM_001354712.2(THRB):c.-261+5G>CSNV Uncertain significance 344643 rs770619537 3:24536138-24536138 3:24494647-24494647
94 THRB NM_001354712.2(THRB):c.*4595_*4596deldeletion Uncertain significance 344554 rs886058269 3:24159779-24159780 3:24118288-24118289
95 THRB NM_001354712.2(THRB):c.*4541dupduplication Uncertain significance 344555 rs886058270 3:24159833-24159834 3:24118342-24118343
96 THRB NM_001354712.2(THRB):c.*4477deldeletion Uncertain significance 344556 rs886058271 3:24159898-24159898 3:24118407-24118407
97 THRB NM_001354712.2(THRB):c.*4470T>CSNV Uncertain significance 344557 rs886058272 3:24159905-24159905 3:24118414-24118414
98 THRB NM_001354712.2(THRB):c.*3915deldeletion Uncertain significance 344563 rs886058273 3:24160460-24160460 3:24118969-24118969
99 THRB NM_001354712.2(THRB):c.*3911C>ASNV Uncertain significance 344566 rs886058274 3:24160464-24160464 3:24118973-24118973
100 THRB NM_001354712.2(THRB):c.*3020G>TSNV Uncertain significance 344581 rs772300437 3:24161355-24161355 3:24119864-24119864
101 THRB NM_001354712.2(THRB):c.*2332G>ASNV Uncertain significance 344595 rs779322220 3:24162043-24162043 3:24120552-24120552
102 THRB NM_001354712.2(THRB):c.*2204C>GSNV Uncertain significance 344597 rs886058283 3:24162171-24162171 3:24120680-24120680
103 THRB NM_001354712.2(THRB):c.*1866T>CSNV Uncertain significance 344604 rs886058287 3:24162509-24162509 3:24121018-24121018
104 THRB NM_001354712.2(THRB):c.*1776deldeletion Uncertain significance 344607 rs536659624 3:24162599-24162599 3:24121108-24121108
105 THRB NM_001354712.2(THRB):c.727C>G (p.Arg243Gly)SNV Uncertain significance 492911 rs121918707 3:24185003-24185003 3:24143512-24143512
106 THRB NM_001354712.2(THRB):c.700G>C (p.Ala234Pro)SNV Uncertain significance 492910 rs121918694 3:24185030-24185030 3:24143539-24143539
107 THRB NM_001354712.2(THRB):c.679_696dup (p.Glu227_Thr232dup)duplication Uncertain significance 492909 rs1553616532 3:24185033-24185034 3:24143542-24143543
108 THRB NM_001354712.2(THRB):c.920G>A (p.Gly307Asp)SNV Uncertain significance 492913 rs1553611101 3:24169214-24169214 3:24127723-24127723
109 THRB NM_001354712.2(THRB):c.1192A>C (p.Ser398Arg)SNV Uncertain significance 801949 3:24164569-24164569 3:24123078-24123078
110 THRB NM_001354712.2(THRB):c.*1776dupduplication Likely benign 344606 rs536659624 3:24162598-24162599 3:24121107-24121108
111 THRB NM_001354712.2(THRB):c.*1409T>CSNV Likely benign 344611 rs148766881 3:24162966-24162966 3:24121475-24121475
112 THRB NM_001354712.2(THRB):c.*3017C>TSNV Likely benign 344582 rs144174027 3:24161358-24161358 3:24119867-24119867
113 THRB NM_001354712.2(THRB):c.*2912A>GSNV Likely benign 344583 rs116321631 3:24161463-24161463 3:24119972-24119972
114 THRB NM_001354712.2(THRB):c.*2572_*2575ATTG[3]short repeat Likely benign 344590 rs144580659 3:24161795-24161796 3:24120304-24120305
115 THRB NM_001354712.2(THRB):c.*3324dupduplication Likely benign 344577 rs35554555 3:24161050-24161051 3:24119559-24119560
116 THRB NM_001354712.2(THRB):c.*4917G>ASNV Likely benign 344549 rs539558452 3:24159458-24159458 3:24117967-24117967
117 THRB NM_001354712.2(THRB):c.*4824C>TSNV Likely benign 344550 rs534066448 3:24159551-24159551 3:24118060-24118060
118 THRB NM_001354712.2(THRB):c.*4340G>ASNV Likely benign 344558 rs78543378 3:24160035-24160035 3:24118544-24118544
119 THRB NM_001354712.2(THRB):c.*3929G>ASNV Likely benign 344562 rs549973481 3:24160446-24160446 3:24118955-24118955
120 THRB NM_001354712.2(THRB):c.*4205A>GSNV Likely benign 344559 rs376819021 3:24160170-24160170 3:24118679-24118679
121 THRB NM_001354712.2(THRB):c.*4129C>GSNV Likely benign 344561 rs142926795 3:24160246-24160246 3:24118755-24118755
122 THRB NM_001354712.2(THRB):c.*361G>ASNV Likely benign 344631 rs111304854 3:24164014-24164014 3:24122523-24122523
123 THRB NM_001354712.2(THRB):c.*195C>TSNV Likely benign 344634 rs149091062 3:24164180-24164180 3:24122689-24122689
124 THRB NM_001354712.2(THRB):c.*107G>CSNV Likely benign 344635 rs72619908 3:24164268-24164268 3:24122777-24122777
125 THRB NM_001354712.2(THRB):c.*1802G>ASNV Likely benign 344605 rs181974876 3:24162573-24162573 3:24121082-24121082
126 THRB NM_001354712.2(THRB):c.*1750deldeletion Likely benign 344608 rs147125300 3:24162625-24162625 3:24121134-24121134
127 THRB NM_001354712.2(THRB):c.*1375C>TSNV Likely benign 344612 rs142386334 3:24163000-24163000 3:24121509-24121509
128 THRB NM_001354712.2(THRB):c.*1104T>CSNV Likely benign 344618 rs79097039 3:24163271-24163271 3:24121780-24121780
129 THRB NM_001354712.2(THRB):c.*3459C>TSNV Likely benign 344576 rs554571353 3:24160916-24160916 3:24119425-24119425
130 THRB NM_001354712.2(THRB):c.*5429C>GSNV Likely benign 344536 rs141920435 3:24158946-24158946 3:24117455-24117455
131 THRB NM_001354712.2(THRB):c.*5533G>ASNV Likely benign 344534 rs548437052 3:24158842-24158842 3:24117351-24117351
132 THRB NM_001354712.2(THRB):c.*900deldeletion Likely benign 344622 rs373141874 3:24163475-24163475 3:24121984-24121984
133 THRB NM_001354712.2(THRB):c.*2347C>GSNV Likely benign 344592 rs558492958 3:24162028-24162028 3:24120537-24120537
134 THRB NM_001354712.2(THRB):c.*2316A>GSNV Likely benign 344596 rs113984059 3:24162059-24162059 3:24120568-24120568
135 THRB NM_001354712.2(THRB):c.*1959C>TSNV Likely benign 344602 rs149588565 3:24162416-24162416 3:24120925-24120925
136 THRB NM_001354712.2(THRB):c.*1662T>CSNV Likely benign 344609 rs187291821 3:24162713-24162713 3:24121222-24121222
137 THRB NM_001354712.2(THRB):c.*3595G>CSNV Likely benign 344574 rs572325175 3:24160780-24160780 3:24119289-24119289
138 THRB NM_001354712.2(THRB):c.*3143T>CSNV Likely benign 344580 rs192001851 3:24161232-24161232 3:24119741-24119741
139 THRB NM_001354712.2(THRB):c.*4189G>CSNV Likely benign 344560 rs575525867 3:24160186-24160186 3:24118695-24118695
140 THRB NM_001354712.2(THRB):c.*570dupduplication Likely benign 344627 rs569875966 3:24163804-24163805 3:24122313-24122314
141 THRB NM_001354712.2(THRB):c.*5262C>TSNV Likely benign 344540 rs550799208 3:24159113-24159113 3:24117622-24117622
142 THRB NM_001354712.2(THRB):c.*2786G>TSNV Likely benign 344585 rs143575270 3:24161589-24161589 3:24120098-24120098
143 THRB NM_001354712.2(THRB):c.*2637G>TSNV Likely benign 344587 rs184507648 3:24161738-24161738 3:24120247-24120247
144 THRB NM_001354712.2(THRB):c.*2144G>CSNV Likely benign 344599 rs76054208 3:24162231-24162231 3:24120740-24120740
145 THRB NM_001354712.2(THRB):c.*2105T>GSNV Likely benign 344600 rs138358071 3:24162270-24162270 3:24120779-24120779
146 THRB NM_001354712.2(THRB):c.*3292G>ASNV Likely benign 344578 rs144912030 3:24161083-24161083 3:24119592-24119592
147 THRB NM_001354712.2(THRB):c.*4975G>CSNV Likely benign 344546 rs146338850 3:24159400-24159400 3:24117909-24117909
148 THRB NM_001354712.2(THRB):c.*4796T>CSNV Likely benign 344551 rs139568686 3:24159579-24159579 3:24118088-24118088
149 THRB NM_001354712.2(THRB):c.*4762G>ASNV Likely benign 344552 rs567375785 3:24159613-24159613 3:24118122-24118122
150 THRB NM_001354712.2(THRB):c.*4611deldeletion Likely benign 344553 rs147687234 3:24159764-24159764 3:24118273-24118273
151 THRB NM_001354712.2(THRB):c.*1049G>ASNV Likely benign 344620 rs147770624 3:24163326-24163326 3:24121835-24121835
152 THRB NM_001354712.2(THRB):c.*2616T>GSNV Likely benign 344589 rs150170704 3:24161759-24161759 3:24120268-24120268
153 THRB NM_001354712.2(THRB):c.*2346T>CSNV Likely benign 344593 rs570471899 3:24162029-24162029 3:24120538-24120538
154 THRB NM_001354712.2(THRB):c.*1561T>GSNV Likely benign 344610 rs367583791 3:24162814-24162814 3:24121323-24121323
155 THRB NM_001354712.2(THRB):c.*5257C>ASNV Likely benign 344541 rs577817279 3:24159118-24159118 3:24117627-24117627
156 THRB NM_001354712.2(THRB):c.*468G>ASNV Likely benign 344628 rs190078914 3:24163907-24163907 3:24122416-24122416
157 THRB NM_001354712.2(THRB):c.*1334C>TSNV Likely benign 344614 rs192044256 3:24163041-24163041 3:24121550-24121550
158 THRB NM_001354712.2(THRB):c.*1284A>CSNV Likely benign 344615 rs115153721 3:24163091-24163091 3:24121600-24121600
159 THRB NM_001354712.2(THRB):c.1251T>C (p.Phe417=)SNV Benign/Likely benign 257670 rs13081063 3:24164510-24164510 3:24123019-24123019
160 THRB NM_001354712.2(THRB):c.1144+9G>ASNV Benign 257669 rs13063628 3:24168981-24168981 3:24127490-24127490
161 THRB NM_001354712.2(THRB):c.*5728G>ASNV Benign 344532 rs17014136 3:24158647-24158647 3:24117156-24117156
162 THRB NM_001354712.2(THRB):c.*5684G>ASNV Benign 344533 rs75272640 3:24158691-24158691 3:24117200-24117200
163 THRB NM_001354712.2(THRB):c.735C>T (p.Phe245=)SNV Benign 198422 rs3752874 3:24184995-24184995 3:24143504-24143504
164 THRB NM_001354712.2(THRB):c.*5367C>TSNV Benign 344537 rs2167116 3:24159008-24159008 3:24117517-24117517
165 THRB NM_001354712.2(THRB):c.*2661deldeletion Benign 344586 rs139700964 3:24161714-24161714 3:24120223-24120223
166 THRB NM_001354712.2(THRB):c.*4988T>CSNV Benign 344545 rs1349265 3:24159387-24159387 3:24117896-24117896
167 THRB NM_001354712.2(THRB):c.*3905_*3910deldeletion Benign 344568 rs559325556 3:24160465-24160470 3:24118974-24118979
168 THRB NM_001354712.2(THRB):c.-42-14dupduplication Benign 344640 rs3836253 3:24270500-24270501 3:24229009-24229010
169 THRB NM_001354712.2(THRB):c.*1354A>GSNV Benign 344613 rs844107 3:24163021-24163021 3:24121530-24121530
170 THRB NM_001354712.2(THRB):c.*602G>CSNV Benign 344625 rs826373 3:24163773-24163773 3:24122282-24122282
171 THRB NM_001354712.2(THRB):c.*454T>GSNV Benign 344629 rs826374 3:24163921-24163921 3:24122430-24122430
172 THRB NM_001354712.2(THRB):c.*670A>GSNV Benign 344624 rs826372 3:24163705-24163705 3:24122214-24122214
173 THRB NM_001354712.2(THRB):c.*411A>GSNV Benign 344630 rs826375 3:24163964-24163964 3:24122473-24122473
174 THRB NM_001354712.2(THRB):c.*5352C>TSNV Benign 344538 rs56204436 3:24159023-24159023 3:24117532-24117532
175 THRB NM_001354712.2(THRB):c.*2882G>ASNV Benign 344584 rs79270057 3:24161493-24161493 3:24120002-24120002
176 THRB NM_001354712.2(THRB):c.*730G>CSNV Benign 344623 rs826371 3:24163645-24163645 3:24122154-24122154

UniProtKB/Swiss-Prot genetic disease variations for Thyroid Hormone Resistance, Generalized, Autosomal Dominant:

73 (showing 31, show less)
# Symbol AA change Variation ID SNP ID
1 THRB p.Ala234Thr VAR_004632 rs121918694
2 THRB p.Arg243Trp VAR_004633 rs121918707
3 THRB p.Ala317Thr VAR_004635 rs121918690
4 THRB p.Arg320Cys VAR_004636 rs121918696
5 THRB p.Arg320His VAR_004637 rs121918693
6 THRB p.Gly332Arg VAR_004638 rs28999969
7 THRB p.Arg338Trp VAR_004640 rs121918697
8 THRB p.Gln340His VAR_004641 rs121918688
9 THRB p.Lys342Ile VAR_004642
10 THRB p.Gly345Val VAR_004643 rs28999970
11 THRB p.Gly345Ser VAR_004644 rs121918686
12 THRB p.Gly345Arg VAR_004645 rs121918686
13 THRB p.Gly347Glu VAR_004646 rs28999971
14 THRB p.Val348Glu VAR_004647
15 THRB p.Thr426Ile VAR_004648
16 THRB p.Arg438His VAR_004649 rs121918698
17 THRB p.Met442Val VAR_004650 rs121918691
18 THRB p.Lys443Glu VAR_004651 rs121918692
19 THRB p.Cys446Arg VAR_004652 rs121918703
20 THRB p.Pro453His VAR_004653 rs121918687
21 THRB p.Pro453Ser VAR_004654 rs28933408
22 THRB p.Pro453Thr VAR_004655 rs28933408
23 THRB p.Ala268Gly VAR_059041
24 THRB p.Asn331Asp VAR_059042
25 THRB p.Ala335Pro VAR_059043
26 THRB p.Leu341Pro VAR_059044
27 THRB p.Leu346Phe VAR_059045
28 THRB p.Ile431Met VAR_059046 rs155360919
29 THRB p.Pro447Thr VAR_059047
30 THRB p.Pro453Leu VAR_059048
31 THRB p.Phe459Cys VAR_059049 rs121918702

Expression for Thyroid Hormone Resistance, Generalized, Autosomal Dominant

Search GEO for disease gene expression data for Thyroid Hormone Resistance, Generalized, Autosomal Dominant.

Pathways for Thyroid Hormone Resistance, Generalized, Autosomal Dominant

Pathways related to Thyroid Hormone Resistance, Generalized, Autosomal Dominant according to KEGG:

36 (showing 2, show less)
# Name Kegg Source Accession
1 Neuroactive ligand-receptor interaction hsa04080
2 Thyroid hormone signaling pathway hsa04919

Pathways related to Thyroid Hormone Resistance, Generalized, Autosomal Dominant according to GeneCards Suite gene sharing:

(showing 5, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.39 TSHR TSHB TG SERPINA7
2 11.51 THRB THRA SLC16A2
3
Show member pathways
11.09 THRB THRA NR1H2
4 10.27 TSHR TSHB
5 9.58 TSHR TRH TG

GO Terms for Thyroid Hormone Resistance, Generalized, Autosomal Dominant

Cellular components related to Thyroid Hormone Resistance, Generalized, Autosomal Dominant according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor complex GO:0090575 8.8 THRB THRA NR1H2

Biological processes related to Thyroid Hormone Resistance, Generalized, Autosomal Dominant according to GeneCards Suite gene sharing:

(showing 13, show less)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.7 TSHR TSHB TRH
2 transcription initiation from RNA polymerase II promoter GO:0006367 9.65 THRB THRA NR1H2
3 steroid hormone mediated signaling pathway GO:0043401 9.58 THRB THRA NR1H2
4 response to cold GO:0009409 9.51 TRH THRA
5 regulation of heart contraction GO:0008016 9.49 THRB THRA
6 response to lipid GO:0033993 9.46 THRB THRA
7 thyroid hormone transport GO:0070327 9.43 SLC16A2 SERPINA7
8 intracellular receptor signaling pathway GO:0030522 9.43 THRB THRA NR1H2
9 type I pneumocyte differentiation GO:0060509 9.37 THRB THRA
10 thyroid hormone mediated signaling pathway GO:0002154 9.32 THRB THRA
11 female courtship behavior GO:0008050 9.16 THRB THRA
12 thyroid gland development GO:0030878 9.13 THRB THRA TG
13 hormone-mediated signaling pathway GO:0009755 9.02 TSHR TSHB TRH THRB THRA

Molecular functions related to Thyroid Hormone Resistance, Generalized, Autosomal Dominant according to GeneCards Suite gene sharing:

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 9.62 TSHR THRB THRA NR1H2
2 hormone activity GO:0005179 9.58 TSHB TRH TG
3 transcription regulatory region sequence-specific DNA binding GO:0000976 9.54 THRB THRA NR1H2
4 nuclear receptor transcription coactivator activity GO:0030374 9.33 THRB THRA NR1H2
5 thyroid hormone binding GO:0070324 9.26 THRB THRA
6 steroid hormone receptor activity GO:0003707 9.13 THRB THRA NR1H2
7 nuclear receptor activity GO:0004879 8.8 THRB THRA NR1H2

Sources for Thyroid Hormone Resistance, Generalized, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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