GTHR
MCID: THY112
MIFTS: 49

Thyroid Hormone Resistance, Generalized, Autosomal Dominant (GTHR)

Categories: Ear diseases, Endocrine diseases, Fetal 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 57 29 6 40 73
Thyroid Hormone Resistance 57 12 29 13 55 6
Thyroid Hormone Resistance Syndrome 12 37 44 15 73
Generalized Thyroid Hormone Resistance 12 75
Gthr 57 75
Hyperthyroxinemia, Familial Euthyroid, Secondary to Pituitary and Peripheral Resistance to Thyroid Hormones 57
Hyperthyroxinemia, Familial Euthyroid, Secondary to Pituitary and Peripheral Thyroid Hormones 57
Thyroid Hormone Resistance, Generalized, Autosomal Recessive 73
Generalized Thyroid Hormone Resistance Autosomal Dominant 75
Thyroid Hormone Resistance, Generalized 6
Thyroid Hormone Responsiveness Defect 12
Thyroid Hormone Unresponsiveness 57
Refetoff Syndrome 12
Grth 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant form
also a recessive form


HPO:

32
thyroid hormone resistance, generalized, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Thyroid Hormone Resistance, Generalized, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 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, 3. 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. Affiliated tissues include thyroid, pituitary and bone, and related phenotypes are delayed speech and language development and attention deficit hyperactivity disorder

Description 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:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 generalized resistance to thyroid hormone 32.1 THRB TRH TXNRD2
2 hypothyroidism, congenital, nongoitrous, 3 32.1 THRA THRB
3 hypothyroidism, congenital, nongoitrous, 2 31.8 SERPINA7 TG
4 hyperthyroxinemia 30.0 SERPINA7 TRH
5 graves' disease 29.5 SERPINA7 TG THRB
6 thyroid cancer 29.1 TG THRA THRB TXNRD2
7 hyperthyroidism 28.9 SERPINA7 SHBG TG THRB TRH
8 hypothyroidism 28.9 TRH THRB THRA TG SHBG SERPINA7
9 thyroiditis 28.8 TXNRD2 TRH THRB TG SERPINA7
10 goiter 28.8 TRH THRB TG SERPINA7 TXNRD2
11 thyroid hormone resistance, generalized, autosomal recessive 11.5
12 hyperthyroxinemia, familial dysalbuminemic 11.5
13 thyroid hormone plasma membrane transport defect 11.5
14 hypothyroidism, congenital, nongoitrous, 1 11.3
15 thyroid hormone resistance, selective pituitary 11.1
16 lipodystrophy, familial partial, type 3 10.1 THRB TXNRD2
17 atrial fibrillation 10.0
18 chromophobe adenoma 10.0 SERPINA7 TRH
19 hyperprolactinemia 9.9 SHBG TRH
20 postsurgical hypothyroidism 9.9 TG TRH
21 amenorrhea 9.9 SHBG TRH
22 dyshormonogenic goiter 9.9 SERPINA7 TG
23 endemic goiter 9.9 SERPINA7 TG
24 exophthalmos 9.9
25 cell type benign neoplasm 9.9 TG TRH
26 autoimmune disease of endocrine system 9.9 SERPINA7 TG
27 hypoadrenalism 9.9 SHBG TG
28 thyroid crisis 9.8 SERPINA7 TG THRB
29 papillary thyroid microcarcinoma 9.8
30 diabetes mellitus 9.8
31 osteopetrosis 9.8
32 neonatal thyrotoxicosis 9.8
33 purpura 9.8
34 pituitary adenoma 9.8
35 infertility 9.8
36 adenoma 9.8
37 hypotonia 9.8
38 athyreosis 9.8
39 congenital hypothyroidism 9.8 SERPINA7 TG
40 turner syndrome 9.8 SHBG TG
41 toxic diffuse goiter 9.8 SERPINA7 TG TRH
42 plummer's disease 9.8 SHBG TG THRB
43 hypothyroidism, congenital, nongoitrous, 4 9.7 SERPINA7 TG TRH
44 thyroid cancer, nonmedullary, 2 9.7 TG THRB
45 nontoxic goiter 9.7 SERPINA7 SHBG TG
46 subacute thyroiditis 9.7 SERPINA7 SHBG TG
47 graves disease 1 9.5 TXNRD2 TRH THRB TG SERPINA7
48 thyroid gland disease 9.3 TXNRD2 TRH THRB THRA TG SERPINA7

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 32 HP:0000750
2 attention deficit hyperactivity disorder 32 HP:0007018
3 goiter 32 HP:0000853
4 thyroid hormone receptor defect 32 HP:0002930
5 increased serum free triiodothyronine 32 HP:0011788

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

Search Clinical Trials , 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:

41
Thyroid, Pituitary, Bone, Liver, Heart, Endothelial, Monocytes

Publications for Thyroid Hormone Resistance, Generalized, Autosomal Dominant

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

(show top 50) (show all 141)
# Title Authors Year
1
Thyroid Hormone Resistance in Identical Twin Sisters with Atrial Fibrillation: Case Report and Review of the Literature. ( 30148208 )
2018
2
Role of Leucine 341 in Thyroid Hormone Receptor Beta Revealed by a Novel Mutation Causing Thyroid Hormone Resistance. ( 30362879 )
2018
3
Thyroid hormone resistance syndrome - own experiences. ( 29574474 )
2017
4
Thyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor I^ gene: Report of one Chinese pedigree and review of the literature. ( 27537566 )
2016
5
Gene expression of T3-regulated genes in a mouse model of the human thyroid hormone resistance. ( 27919825 )
2016
6
Not all elevated hormones are toxic: A case of thyroid hormone resistance. ( 27843862 )
2016
7
Varied presentations of thyroid hormone resistance. ( 27727652 )
2016
8
Thyroid hormone resistance and its management. ( 27034574 )
2016
9
Coexistence of thyroid hormone resistance syndrome, pituitary adenoma and Graves' disease. ( 26786783 )
2016
10
Thyroid hormone resistance in two patients with papillary thyroid microcarcinoma and their BRAFV600E mutation status. ( 26331327 )
2015
11
Description of the thyroid hormone resistance syndrome illustrated by such a case, which had two different carcinomas and was mistreated with iodine-131. ( 26637504 )
2015
12
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor I+ gene (THRA). ( 25670821 )
2015
13
The expanding spectrum of thyroid hormone resistance concerns the entire medical field. ( 26615083 )
2015
14
[Thyroid hormone resistance may course hypotonia in infancy]. ( 25497665 )
2014
15
A rare thyroid hormone receptor beta (THRbeta) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: a case report. ( 24393243 )
2014
16
Thyroid hormone resistance due to a novel THRA9 mutation. ( 24833079 )
2014
17
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. ( 25305309 )
2014
18
Diabetes mellitus in a girl with thyroid hormone resistance syndrome: a little recognized interaction between the two diseases. ( 25402385 )
2014
19
A case of thyroid hormone resistance: a rare mutation. ( 25627054 )
2014
20
Thyroid hormone resistance caused by a novel deleterious variant of the thyroid hormone receptor beta gene. ( 23195042 )
2013
21
Thyroid hormone resistance: a novel mutation in thyroid hormone receptor beta (THRB) gene - case report. ( 24217081 )
2013
22
The first case of association between postpartum thyroiditis and thyroid hormone resistance in an Italian patient showing a novel p.V283A THRB mutation. ( 23134553 )
2013
23
Multiple HA1rthle cell adenomas in a patient with thyroid hormone resistance. ( 24683474 )
2013
24
Immune thrombocytopenic purpura in a child with thyroid hormone resistance - a rare presentation. ( 23382302 )
2013
25
Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRI+1 receptor: consequences of LT4 treatment. ( 23633213 )
2013
26
Reduced L- and M- and increased S-cone functions in an infant with thyroid hormone resistance due to mutations in the THRI^2 gene. ( 22551329 )
2012
27
A two-day-old hyperthyroid neonate with thyroid hormone resistance born to a mother with well-controlled Graves' disease: a case report. ( 22905724 )
2012
28
Perioperative management of a patient with thyroid hormone resistance who underwent total thyroidectomy for thyroid cancer. ( 22388929 )
2012
29
Treatment with methimazole in a 3-year-old male with thyroid hormone resistance. ( 22538421 )
2012
30
ZNF764 haploinsufficiency may explain partial glucocorticoid, androgen, and thyroid hormone resistance associated with 16p11.2 microdeletion. ( 22577170 )
2012
31
Long-term 3,5,3'-triiodothyroacetic acid therapy in a child with hyperthyroidism caused by thyroid hormone resistance: pharmacological study and therapeutic recommendations. ( 22947347 )
2012
32
Dichotomous responses to thyroid hormone treatment in a patient with primary hypothyroidism and thyroid hormone resistance. ( 21595517 )
2011
33
Thyroid hormone resistance in identical twins. ( 20855287 )
2011
34
Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities. ( 21468521 )
2011
35
Thyroid hormone resistance detected by routine neonatal screening. ( 21340159 )
2010
36
Marked hyperthyroxinemia during amiodarone treatment revealing thyroid hormone resistance syndrome. ( 18724828 )
2008
37
Thyroid hormone resistance and pituitary enlargement after thyroid ablation in a woman on levothyroxine treatment. ( 18816177 )
2008
38
A novel mutation of thyroid hormone receptor beta (I431V) impairs corepressor release, and induces thyroid hormone resistance syndrome. ( 19169485 )
2008
39
Proposing a causal link between thyroid hormone resistance and primary autoimmune hypothyroidism. ( 17919833 )
2008
40
Case report: thyroid hormone resistance and its therapeutic challenges. ( 18622209 )
2008
41
Thyroid hormone resistance. ( 18940949 )
2008
42
Thyroid hormone resistance without mutations in thyroid hormone receptor beta. ( 17534237 )
2007
43
A newly identified insertion mutation in the thyroid hormone receptor-beta gene in a Korean family with generalized thyroid hormone resistance. ( 17596672 )
2007
44
On commonness and rarity of thyroid hormone resistance: a discussion based on mechanisms of reduced sensitivity in peripheral tissues. ( 17383828 )
2007
45
A case of thyroid hormone resistance: Prospective follow-up during pregnancy and obstetric outcome. ( 17449404 )
2007
46
Endothelial dysfunction in a murine model of thyroid hormone resistance. ( 17461985 )
2007
47
Thyroid hormone resistance: the role of mutational analysis. ( 17040361 )
2006
48
Cross-talk between thyroid hormone receptor and liver X receptor regulatory pathways is revealed in a thyroid hormone resistance mouse model. ( 16260782 )
2006
49
[Study on TR beta gene mutation in a thyroid hormone resistance syndrome family]. ( 16883531 )
2006
50
Thyroid hormone resistance. ( 17132274 )
2006

Variations for Thyroid Hormone Resistance, Generalized, Autosomal Dominant

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

75 (show all 31)
# 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
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
29 THRB p.Pro447Thr VAR_059047
30 THRB p.Pro453Leu VAR_059048
31 THRB p.Phe459Cys VAR_059049 rs121918702

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

6 (show top 50) (show all 347)
# Gene Variation Type Significance SNP ID Assembly Location
1 THRB NM_001252634.1(THRB): c.1033G> C (p.Gly345Arg) single nucleotide variant Pathogenic rs121918686 GRCh37 Chromosome 3, 24169101: 24169101
2 THRB NM_001252634.1(THRB): c.1033G> C (p.Gly345Arg) single nucleotide variant Pathogenic rs121918686 GRCh38 Chromosome 3, 24127610: 24127610
3 THRB NM_001128177.1(THRB): c.1020G> C (p.Gln340His) single nucleotide variant Pathogenic rs121918688 GRCh37 Chromosome 3, 24169114: 24169114
4 THRB NM_001128177.1(THRB): c.1020G> C (p.Gln340His) single nucleotide variant Pathogenic rs121918688 GRCh38 Chromosome 3, 24127623: 24127623
5 THRB NM_001128177.1(THRB): c.1358C> A (p.Pro453His) single nucleotide variant Pathogenic rs121918687 GRCh37 Chromosome 3, 24164403: 24164403
6 THRB NM_001128177.1(THRB): c.1358C> A (p.Pro453His) single nucleotide variant Pathogenic rs121918687 GRCh38 Chromosome 3, 24122912: 24122912
7 THRB NM_001128177.1(THRB): c.929T> C (p.Met310Thr) single nucleotide variant Pathogenic rs121918699 GRCh37 Chromosome 3, 24169205: 24169205
8 THRB NM_001128177.1(THRB): c.929T> C (p.Met310Thr) single nucleotide variant Pathogenic rs121918699 GRCh38 Chromosome 3, 24127714: 24127714
9 THRB NM_001128177.1(THRB): c.964G> C (p.Asp322His) single nucleotide variant Pathogenic rs121918700 GRCh37 Chromosome 3, 24169170: 24169170
10 THRB NM_001128177.1(THRB): c.964G> C (p.Asp322His) single nucleotide variant Pathogenic rs121918700 GRCh38 Chromosome 3, 24127679: 24127679
11 THRB NM_001252634.1(THRB): c.949G> A (p.Ala317Thr) single nucleotide variant Pathogenic rs121918690 GRCh37 Chromosome 3, 24169185: 24169185
12 THRB NM_001252634.1(THRB): c.949G> A (p.Ala317Thr) single nucleotide variant Pathogenic rs121918690 GRCh38 Chromosome 3, 24127694: 24127694
13 THRB NM_001128177.1(THRB): c.994G> A (p.Gly332Arg) single nucleotide variant Likely pathogenic rs28999969 GRCh37 Chromosome 3, 24169140: 24169140
14 THRB NM_001128177.1(THRB): c.994G> A (p.Gly332Arg) single nucleotide variant Likely pathogenic rs28999969 GRCh38 Chromosome 3, 24127649: 24127649
15 THRB NM_001128177.1(THRB): c.1034G> A (p.Gly345Asp) single nucleotide variant Pathogenic rs28999970 GRCh37 Chromosome 3, 24169100: 24169100
16 THRB NM_001128177.1(THRB): c.1034G> A (p.Gly345Asp) single nucleotide variant Pathogenic rs28999970 GRCh38 Chromosome 3, 24127609: 24127609
17 THRB NM_001128177.1(THRB): c.1034G> T (p.Gly345Val) single nucleotide variant Pathogenic rs28999970 GRCh37 Chromosome 3, 24169100: 24169100
18 THRB NM_001128177.1(THRB): c.1034G> T (p.Gly345Val) single nucleotide variant Pathogenic rs28999970 GRCh38 Chromosome 3, 24127609: 24127609
19 THRB NM_001252634.1(THRB): c.1040G> A (p.Gly347Glu) single nucleotide variant Pathogenic rs28999971 GRCh37 Chromosome 3, 24169094: 24169094
20 THRB NM_001252634.1(THRB): c.1040G> A (p.Gly347Glu) single nucleotide variant Pathogenic rs28999971 GRCh38 Chromosome 3, 24127603: 24127603
21 THRB NM_001128177.1(THRB): c.1324A> G (p.Met442Val) single nucleotide variant Pathogenic rs121918691 GRCh37 Chromosome 3, 24164437: 24164437
22 THRB NM_001128177.1(THRB): c.1324A> G (p.Met442Val) single nucleotide variant Pathogenic rs121918691 GRCh38 Chromosome 3, 24122946: 24122946
23 THRB NM_001128177.1(THRB): c.1349T> A (p.Leu450His) single nucleotide variant Pathogenic rs121918701 GRCh37 Chromosome 3, 24164412: 24164412
24 THRB NM_001128177.1(THRB): c.1349T> A (p.Leu450His) single nucleotide variant Pathogenic rs121918701 GRCh38 Chromosome 3, 24122921: 24122921
25 THRB THRB, 1-BP INS, 1627C insertion Pathogenic
26 THRB NM_001252634.1(THRB): c.1357C> A (p.Pro453Thr) single nucleotide variant Pathogenic rs28933408 GRCh37 Chromosome 3, 24164404: 24164404
27 THRB NM_001252634.1(THRB): c.1357C> A (p.Pro453Thr) single nucleotide variant Pathogenic rs28933408 GRCh38 Chromosome 3, 24122913: 24122913
28 THRB NM_001128177.1(THRB): c.1327A> G (p.Lys443Glu) single nucleotide variant Pathogenic rs121918692 GRCh37 Chromosome 3, 24164434: 24164434
29 THRB NM_001128177.1(THRB): c.1327A> G (p.Lys443Glu) single nucleotide variant Pathogenic rs121918692 GRCh38 Chromosome 3, 24122943: 24122943
30 THRB NM_001128177.1(THRB): c.1033G> A (p.Gly345Ser) single nucleotide variant Pathogenic rs121918686 GRCh37 Chromosome 3, 24169101: 24169101
31 THRB NM_001128177.1(THRB): c.1033G> A (p.Gly345Ser) single nucleotide variant Pathogenic rs121918686 GRCh38 Chromosome 3, 24127610: 24127610
32 THRB NM_001252634.1(THRB): c.959G> A (p.Arg320His) single nucleotide variant Uncertain significance rs121918693 GRCh37 Chromosome 3, 24169175: 24169175
33 THRB NM_001252634.1(THRB): c.959G> A (p.Arg320His) single nucleotide variant Uncertain significance rs121918693 GRCh38 Chromosome 3, 24127684: 24127684
34 THRB NM_000461.4(THRB): c.700G> A (p.Ala234Thr) single nucleotide variant Pathogenic rs121918694 GRCh37 Chromosome 3, 24185030: 24185030
35 THRB NM_000461.4(THRB): c.700G> A (p.Ala234Thr) single nucleotide variant Pathogenic rs121918694 GRCh38 Chromosome 3, 24143539: 24143539
36 THRB NM_001252634.1(THRB): c.958C> T (p.Arg320Cys) single nucleotide variant Pathogenic rs121918696 GRCh37 Chromosome 3, 24169176: 24169176
37 THRB NM_001252634.1(THRB): c.958C> T (p.Arg320Cys) single nucleotide variant Pathogenic rs121918696 GRCh38 Chromosome 3, 24127685: 24127685
38 THRB NM_001252634.1(THRB): c.1012C> T (p.Arg338Trp) single nucleotide variant Pathogenic rs121918697 GRCh37 Chromosome 3, 24169122: 24169122
39 THRB NM_001252634.1(THRB): c.1012C> T (p.Arg338Trp) single nucleotide variant Pathogenic rs121918697 GRCh38 Chromosome 3, 24127631: 24127631
40 THRB NM_001252634.1(THRB): c.1313G> A (p.Arg438His) single nucleotide variant Pathogenic rs121918698 GRCh37 Chromosome 3, 24164448: 24164448
41 THRB NM_001252634.1(THRB): c.1313G> A (p.Arg438His) single nucleotide variant Pathogenic rs121918698 GRCh38 Chromosome 3, 24122957: 24122957
42 THRB THRB, 1-BP INS, 1644C insertion Pathogenic
43 THRB NM_001128177.1(THRB): c.1376T> G (p.Phe459Cys) single nucleotide variant Pathogenic rs121918702 GRCh37 Chromosome 3, 24164385: 24164385
44 THRB NM_001128177.1(THRB): c.1376T> G (p.Phe459Cys) single nucleotide variant Pathogenic rs121918702 GRCh38 Chromosome 3, 24122894: 24122894
45 THRB NM_001128177.1(THRB): c.1336T> C (p.Cys446Arg) single nucleotide variant Pathogenic rs121918703 GRCh37 Chromosome 3, 24164425: 24164425
46 THRB NM_001128177.1(THRB): c.1336T> C (p.Cys446Arg) single nucleotide variant Pathogenic rs121918703 GRCh38 Chromosome 3, 24122934: 24122934
47 THRB NM_000461.4(THRB): c.1302C> A (p.Cys434Ter) single nucleotide variant Pathogenic rs121918705 GRCh37 Chromosome 3, 24164459: 24164459
48 THRB NM_000461.4(THRB): c.1302C> A (p.Cys434Ter) single nucleotide variant Pathogenic rs121918705 GRCh38 Chromosome 3, 24122968: 24122968
49 THRB NM_001252634.1(THRB): c.728G> A (p.Arg243Gln) single nucleotide variant Pathogenic rs121918706 GRCh37 Chromosome 3, 24185002: 24185002
50 THRB NM_001252634.1(THRB): c.728G> A (p.Arg243Gln) single nucleotide variant Pathogenic rs121918706 GRCh38 Chromosome 3, 24143511: 24143511

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:

37
# Name Kegg Source Accession
1 Neuroactive ligand-receptor interaction hsa04080

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

# Super pathways Score Top Affiliating Genes
1 11.32 THRA THRB
2
Show member pathways
11.11 THRA THRB
3 10.61 THRA THRB
4 9.4 TG TRH

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:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor complex GO:0090575 8.62 THRA THRB

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

# Name GO ID Score Top Affiliating Genes
1 steroid hormone mediated signaling pathway GO:0043401 9.46 THRA THRB
2 response to cold GO:0009409 9.43 THRA TRH
3 intracellular receptor signaling pathway GO:0030522 9.4 THRA THRB
4 regulation of heart contraction GO:0008016 9.37 THRA THRB
5 hormone-mediated signaling pathway GO:0009755 9.33 THRA THRB TRH
6 response to lipid GO:0033993 9.32 THRA THRB
7 type I pneumocyte differentiation GO:0060509 9.26 THRA THRB
8 female courtship behavior GO:0008050 8.96 THRA THRB
9 thyroid gland development GO:0030878 8.8 TG THRA THRB

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.43 TG TRH
2 transcription regulatory region sequence-specific DNA binding GO:0000976 9.4 THRA THRB
3 chromatin DNA binding GO:0031490 9.37 THRA THRB
4 nuclear receptor transcription coactivator activity GO:0030374 9.32 THRA THRB
5 steroid hormone receptor activity GO:0003707 9.26 THRA THRB
6 nuclear receptor activity GO:0004879 9.16 THRA THRB
7 thyroid hormone receptor activity GO:0004887 8.96 THRA THRB
8 thyroid hormone binding GO:0070324 8.62 THRA THRB

Sources for Thyroid Hormone Resistance, Generalized, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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29 GTR
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34 ICD10 via Orphanet
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44 MeSH
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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