GRTHD
MCID: THY112
MIFTS: 46

Thyroid Hormone Resistance, Generalized, Autosomal Dominant (GRTHD)

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 57 29 6 39 70
Thyroid Hormone Resistance Syndrome 12 36 29 6 44 15 70
Thyroid Hormone Resistance 57 12 13 54
Gthr 57 72 6
Generalized Thyroid Hormone Resistance 12 72
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 70
Generalized Thyroid Hormone Resistance Autosomal Dominant 72
Thyroid Hormone Resistance, Generalized 6
Thyroid Hormone Responsiveness Defect 12
Thyroid Hormone Unresponsiveness 57
Refetoff Syndrome 12
Grthd 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 188570
KEGG 36 H00249
MeSH 44 D018382
NCIt 50 C85191
SNOMED-CT 67 50375007
MedGen 41 C2937288
UMLS 70 C2937288 C2940786 C3489796

Summaries for Thyroid Hormone Resistance, Generalized, Autosomal Dominant

UniProtKB/Swiss-Prot : 72 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 syndrome, is related to generalized resistance to thyroid hormone and hypothyroidism, congenital, nongoitrous, 2. 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 heart, 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:

(show top 50) (show all 103)
# Related Disease Score Top Affiliating Genes
1 generalized resistance to thyroid hormone 31.9 TXNRD2 TRH THRB
2 hypothyroidism, congenital, nongoitrous, 2 31.8 TSHR TG
3 hypothyroidism, congenital, nongoitrous, 1 31.4 TSHR TSHB TG
4 athyreosis 30.0 TSHR TG
5 papillary thyroid microcarcinoma 29.9 TSHR TG
6 exophthalmos 29.9 TSHR TG
7 hyperthyroxinemia 29.8 TSHR TRH THRB THRA SERPINA7
8 hyperthyroidism 29.8 TSHR TRH THRB TG SLC16A2 SHBG
9 graves' disease 29.7 TSHR THRB TG SERPINA7
10 hashimoto thyroiditis 29.7 TSHR TG SERPINA7
11 thyroiditis 29.7 TSHR TSHB TG SERPINA7
12 nodular goiter 29.6 TSHR TG
13 neonatal thyrotoxicosis 29.6 TSHR THRA SLC16A2
14 goiter 29.3 TXNRD2 TSHR TRH THRB TG SERPINA7
15 thyroid hormone resistance, selective pituitary 29.2 TXNRD2 TSHB TRH THRB THRA
16 allan-herndon-dudley syndrome 28.7 TSHB TRH THRB THRA SLC16A2 SERPINA7
17 graves disease 1 28.6 TXNRD2 TSHR TRH THRB TG SLC16A2
18 hypothyroidism 28.1 TXNRD2 TSHR TSHB TRH THRB THRA
19 congenital hypothyroidism 28.1 TSHR TSHB TRH THRA TG SLC16A2
20 thyroid hormone resistance, generalized, autosomal recessive 11.5
21 thyroid hormone plasma membrane transport defect 11.4
22 hypothyroidism, congenital, nongoitrous, 3 11.3
23 hyperthyroxinemia, familial dysalbuminemic 11.2
24 pituitary adenoma 10.4
25 constipation 10.3
26 adenoma 10.3
27 acute thyroiditis 10.2 TG SERPINA7
28 attention deficit-hyperactivity disorder 10.2
29 estrogen excess 10.1 SHBG SERPINA7
30 hypotonia 10.1
31 thyroid carcinoma 10.1
32 iodine hypothyroidism 10.1 TSHR TG
33 subacute lymphocytic thyroiditis 10.1 TSHR TG
34 neuroendocrine tumor 10.1
35 learning disability 10.1
36 complete androgen insensitivity syndrome 10.1 SHBG NR1H2
37 struma ovarii 10.0 TSHR TG
38 benign struma ovarii 10.0 TSHR TG
39 turner syndrome 10.0 TG SHBG SERPINA7
40 orbital disease 10.0 TSHR TG
41 cardiogenic shock 10.0
42 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0 TSHR TG
43 papillomatosis, confluent and reticulated 10.0
44 orthostatic intolerance 10.0
45 primary hyperparathyroidism 10.0
46 hyperparathyroidism 10.0
47 pituitary tumors 10.0
48 tremor 10.0
49 mixed cerebral palsy 10.0 TRH SLC16A2 SHBG
50 thyroid cancer, nonmedullary, 2 10.0 TSHR THRB TG

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
# 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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 Syndrome 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, Heart, Testis

Publications for Thyroid Hormone Resistance, Generalized, Autosomal Dominant

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

(show top 50) (show all 113)
# Title Authors PMID Year
1
Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone. 57 6
16804041 2006
2
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. 6 57
1846005 1991
3
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. 6 57
2153155 1990
4
Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta. 6 57
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. 57 6
3571851 1986
6
Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome. 54 6 61
1563081 1992
7
A rare thyroid hormone receptor beta (THR╬▓) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: a case report. 61 6
24393243 2014
8
The thyroid hormone receptor-beta gene mutation R383H is associated with isolated central resistance to thyroid hormone. 6 54
10487671 1999
9
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. 6 54
8013151 1994
10
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. 6 54
1324420 1992
11
Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance. 54 6
1548332 1992
12
A targeted dominant negative mutation of the thyroid hormone alpha 1 receptor causes increased mortality, infertility, and dwarfism in mice. 6
11734632 2001
13
Extreme thyroid hormone resistance in a patient with a novel truncated TR mutant. 6
11701667 2001
14
Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene. 57
10566629 1999
15
A novel TR beta mutation (R383H) in resistance to thyroid hormone syndrome predominantly impairs corepressor release and negative transcriptional regulation. 6
9605924 1998
16
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
17
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
18
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. 57
8954015 1996
19
A new mutation in the thyroid hormone receptor (TR) beta gene (V458A) in a family with resistance to thyroid hormone (RTH). 6
8875752 1996
20
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
21
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
22
Phenotypic variability in patients with generalised resistance to thyroid hormone. 6
7616549 1995
23
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
24
A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone. 6
8175986 1994
25
The syndromes of resistance to thyroid hormone. 57
8319599 1993
26
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
27
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
28
Attention deficit-hyperactivity disorder in people with generalized resistance to thyroid hormone. 57
8450877 1993
29
Identification of a novel mutation in the gene encoding the beta-triiodothyronine receptor in a patient with apparent selective pituitary resistance to thyroid hormone. 6
8384535 1993
30
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
31
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
32
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
33
A point mutation of the T3 receptor beta 1 gene in a kindred of generalized resistance to thyroid hormone. 6
1587388 1992
34
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. 6
1661299 1991
35
Homozygosity for a dominant negative thyroid hormone receptor gene responsible for generalized resistance to thyroid hormone. 6
1682340 1991
36
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. 6
1653889 1991
37
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
38
Structural analysis of human thyroid hormone receptor beta gene. 6
1973914 1990
39
Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA beta gene. 57
2905763 1988
40
Familial partial peripheral and pituitary resistance to thyroid hormone: a frequently missed diagnosis? 57
3097618 1986
41
The c-erb-A gene encodes a thyroid hormone receptor. 6
2879243 1986
42
Familial euthyroid hyperthyroxinemia secondary to pituitary and peripheral resistance to thyroid hormones. 57
2981377 1985
43
Resistance to thyroid hormones. A disorder frequently confused with Graves' disease. 57
6289763 1982
44
Familial thyroid hormone resistance. 6
7200565 1982
45
Familial thyroid hormone resistance. 57
6792914 1981
46
Euthyroid, familial hyperthyroxinemia. 57
7366688 1980
47
Familial partial target organ resistance to thyroid hormones. 57
60346 1976
48
Thyrotropin-induced hyperthyroidism caused by selective pituitary resistance to thyroid hormone. A new syndrome of "inappropriate secretion of TSH". 6
1159077 1975
49
Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. 6
4163616 1967
50
A novel mutation of thyroid hormone receptor beta (I431V) impairs corepressor release, and induces thyroid hormone resistance syndrome. 61 54
19169485 2008

Variations for Thyroid Hormone Resistance, Generalized, Autosomal Dominant

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

6 (show top 50) (show all 242)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 THRB NM_001354712.2(THRB):c.929T>C (p.Met310Thr) SNV Pathogenic 12540 rs121918699 GRCh37: 3:24169205-24169205
GRCh38: 3:24127714-24127714
2 THRB NM_001354712.2(THRB):c.964G>C (p.Asp322His) SNV Pathogenic 12541 rs121918700 GRCh37: 3:24169170-24169170
GRCh38: 3:24127679-24127679
3 THRB NM_001354712.2(THRB):c.1034G>A (p.Gly345Asp) SNV Pathogenic 12544 rs28999970 GRCh37: 3:24169100-24169100
GRCh38: 3:24127609-24127609
4 THRB NM_001354712.2(THRB):c.1349T>A (p.Leu450His) SNV Pathogenic 12548 rs121918701 GRCh37: 3:24164412-24164412
GRCh38: 3:24122921-24122921
5 THRB THRB, 1-BP INS, 1644C Insertion Pathogenic 12560 GRCh37:
GRCh38:
6 THRB NM_001354712.2(THRB):c.1376T>G (p.Phe459Cys) SNV Pathogenic 12561 rs121918702 GRCh37: 3:24164385-24164385
GRCh38: 3:24122894-24122894
7 THRB NM_001354712.2(THRB):c.1033G>C (p.Gly345Arg) SNV Pathogenic 12535 rs121918686 GRCh37: 3:24169101-24169101
GRCh38: 3:24127610-24127610
8 THRB NM_001354712.2(THRB):c.1020G>C (p.Gln340His) SNV Pathogenic 12536 rs121918688 GRCh37: 3:24169114-24169114
GRCh38: 3:24127623-24127623
9 THRB NM_001354712.2(THRB):c.1358C>A (p.Pro453His) SNV Pathogenic 12537 rs121918687 GRCh37: 3:24164403-24164403
GRCh38: 3:24122912-24122912
10 THRB THRB, EX4-10DEL Deletion Pathogenic 12538 GRCh37:
GRCh38:
11 THRB NM_001354712.2(THRB):c.1010_1012del (p.Thr337del) Deletion Pathogenic 12539 rs387906515 GRCh37: 3:24169122-24169124
GRCh38: 3:24127631-24127633
12 THRB NM_001354712.2(THRB):c.949G>A (p.Ala317Thr) SNV Pathogenic 12542 rs121918690 GRCh37: 3:24169185-24169185
GRCh38: 3:24127694-24127694
13 THRB NM_001354712.2(THRB):c.994G>A (p.Gly332Arg) SNV Pathogenic 12543 rs28999969 GRCh37: 3:24169140-24169140
GRCh38: 3:24127649-24127649
14 THRB NM_001354712.2(THRB):c.1034G>T (p.Gly345Val) SNV Pathogenic 12545 rs28999970 GRCh37: 3:24169100-24169100
GRCh38: 3:24127609-24127609
15 THRB NM_001354712.2(THRB):c.1040G>A (p.Gly347Glu) SNV Pathogenic 12546 rs28999971 GRCh37: 3:24169094-24169094
GRCh38: 3:24127603-24127603
16 THRB NM_001354712.2(THRB):c.1324A>G (p.Met442Val) SNV Pathogenic 12547 rs121918691 GRCh37: 3:24164437-24164437
GRCh38: 3:24122946-24122946
17 THRB THRB, 1-BP INS, 1627C Insertion Pathogenic 12549 GRCh37:
GRCh38:
18 THRB NM_001354712.2(THRB):c.1357C>A (p.Pro453Thr) SNV Pathogenic 12550 rs28933408 GRCh37: 3:24164404-24164404
GRCh38: 3:24122913-24122913
19 THRB NM_001354712.2(THRB):c.1327A>G (p.Lys443Glu) SNV Pathogenic 12551 rs121918692 GRCh37: 3:24164434-24164434
GRCh38: 3:24122943-24122943
20 THRB NM_001354712.2(THRB):c.1033G>A (p.Gly345Ser) SNV Pathogenic 12552 rs121918686 GRCh37: 3:24169101-24169101
GRCh38: 3:24127610-24127610
21 THRB NM_001354712.2(THRB):c.959G>A (p.Arg320His) SNV Pathogenic 12553 rs121918693 GRCh37: 3:24169175-24169175
GRCh38: 3:24127684-24127684
22 THRB NM_001354712.2(THRB):c.700G>A (p.Ala234Thr) SNV Pathogenic 12554 rs121918694 GRCh37: 3:24185030-24185030
GRCh38: 3:24143539-24143539
23 THRB NM_001354712.2(THRB):c.958C>T (p.Arg320Cys) SNV Pathogenic 12557 rs121918696 GRCh37: 3:24169176-24169176
GRCh38: 3:24127685-24127685
24 THRB NM_001354712.2(THRB):c.1012C>T (p.Arg338Trp) SNV Pathogenic 12558 rs121918697 GRCh37: 3:24169122-24169122
GRCh38: 3:24127631-24127631
25 THRB NM_001354712.2(THRB):c.1313G>A (p.Arg438His) SNV Pathogenic 12559 rs121918698 GRCh37: 3:24164448-24164448
GRCh38: 3:24122957-24122957
26 THRB NM_001354712.2(THRB):c.1336T>C (p.Cys446Arg) SNV Pathogenic 12563 rs121918703 GRCh37: 3:24164425-24164425
GRCh38: 3:24122934-24122934
27 THRB NM_001354712.2(THRB):c.728G>A (p.Arg243Gln) SNV Pathogenic 12566 rs121918706 GRCh37: 3:24185002-24185002
GRCh38: 3:24143511-24143511
28 THRB NM_001354712.2(THRB):c.1148G>A (p.Arg383His) SNV Pathogenic 12568 rs121918708 GRCh37: 3:24164613-24164613
GRCh38: 3:24123122-24123122
29 THRB THRB, 1-BP DEL, CODON 438, C Deletion Pathogenic 12570 GRCh37:
GRCh38:
30 THRB NM_001354712.2(THRB):c.1029T>G (p.Asn343Lys) SNV Pathogenic 439307 rs1354053223 GRCh37: 3:24169105-24169105
GRCh38: 3:24127614-24127614
31 THRB NM_001354712.2(THRB):c.928A>G (p.Met310Val) SNV Pathogenic 492914 rs1553611094 GRCh37: 3:24169206-24169206
GRCh38: 3:24127715-24127715
32 THRB NM_001354712.2(THRB):c.1312del (p.Arg438fs) Deletion Pathogenic 492922 rs1553609179 GRCh37: 3:24164449-24164449
GRCh38: 3:24122958-24122958
33 THRB NM_001354712.2(THRB):c.980C>A (p.Thr327Asn) SNV Pathogenic 492917 rs1553611038 GRCh37: 3:24169154-24169154
GRCh38: 3:24127663-24127663
34 THRB NM_001354712.2(THRB):c.1031G>A (p.Gly344Glu) SNV Pathogenic 492918 rs1553610974 GRCh37: 3:24169103-24169103
GRCh38: 3:24127612-24127612
35 THRB NM_001354712.2(THRB):c.1358dup (p.Leu454fs) Duplication Pathogenic 492925 rs1553609119 GRCh37: 3:24164402-24164403
GRCh38: 3:24122911-24122912
36 THRB NM_001354712.2(THRB):c.1305T>G (p.His435Gln) SNV Pathogenic 437004 rs1553609185 GRCh37: 3:24164456-24164456
GRCh38: 3:24122965-24122965
37 THRB NM_001354712.2(THRB):c.700G>A (p.Ala234Thr) SNV Pathogenic 12554 rs121918694 GRCh37: 3:24185030-24185030
GRCh38: 3:24143539-24143539
38 THRB NM_001354712.2(THRB):c.1305T>G (p.His435Gln) SNV Pathogenic 437004 rs1553609185 GRCh37: 3:24164456-24164456
GRCh38: 3:24122965-24122965
39 THRB NM_001354712.2(THRB):c.1357C>T (p.Pro453Ser) SNV Pathogenic 439310 rs28933408 GRCh37: 3:24164404-24164404
GRCh38: 3:24122913-24122913
40 THRB NM_001354712.2(THRB):c.1378G>A (p.Glu460Lys) SNV Pathogenic 492926 rs1553609090 GRCh37: 3:24164383-24164383
GRCh38: 3:24122892-24122892
41 THRB NM_001354712.2(THRB):c.803C>G (p.Ala268Gly) SNV Pathogenic 492912 rs750905761 GRCh37: 3:24174889-24174889
GRCh38: 3:24133398-24133398
42 THRB NM_001354712.2(THRB):c.938T>C (p.Met313Thr) SNV Pathogenic 492915 rs1553611083 GRCh37: 3:24169196-24169196
GRCh38: 3:24127705-24127705
43 THRB NM_001354712.2(THRB):c.941C>T (p.Ser314Phe) SNV Pathogenic 492916 rs1553611075 GRCh37: 3:24169193-24169193
GRCh38: 3:24127702-24127702
44 THRB NM_001354712.2(THRB):c.1326_1327delinsAT (p.Met442_Lys443delinsIleTer) Indel Pathogenic 545656 rs1553609167 GRCh37: 3:24164434-24164435
GRCh38: 3:24122943-24122944
45 THRB NM_001354712.2(THRB):c.1286G>A (p.Arg429Gln) SNV Pathogenic 548123 rs1553609210 GRCh37: 3:24164475-24164475
GRCh38: 3:24122984-24122984
46 THRB NM_001354712.2(THRB):c.1348C>T (p.Leu450Phe) SNV Pathogenic 492923 rs1553609152 GRCh37: 3:24164413-24164413
GRCh38: 3:24122922-24122922
47 THRB NM_001354712.2(THRB):c.1312C>T (p.Arg438Cys) SNV Pathogenic 492921 rs367757240 GRCh37: 3:24164449-24164449
GRCh38: 3:24122958-24122958
48 THRB NM_001354712.2(THRB):c.1357C>G (p.Pro453Ala) SNV Pathogenic 492924 rs28933408 GRCh37: 3:24164404-24164404
GRCh38: 3:24122913-24122913
49 THRB NM_001354712.2(THRB):c.1010_1012del (p.Thr337del) Deletion Pathogenic 12539 rs387906515 GRCh37: 3:24169122-24169124
GRCh38: 3:24127631-24127633
50 THRB NM_001354712.2(THRB):c.1302C>A (p.Cys434Ter) SNV Pathogenic 12565 rs121918705 GRCh37: 3:24164459-24164459
GRCh38: 3:24122968-24122968

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

72 (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 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
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.39 TSHR TSHB TG SERPINA7
2 11.52 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

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.83 ZNF764 THRB THRA NR1H2 LCOR
2 cell-cell signaling GO:0007267 9.7 TSHR TSHB TRH
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.65 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 thyroid gland development GO:0030878 9.46 THRA TG
7 intracellular receptor signaling pathway GO:0030522 9.43 THRB THRA NR1H2
8 thyroid hormone metabolic process GO:0042403 9.4 TG SLC16A2
9 thyroid hormone transport GO:0070327 9.37 SLC16A2 SERPINA7
10 type I pneumocyte differentiation GO:0060509 9.32 THRB THRA
11 thyroid hormone mediated signaling pathway GO:0002154 9.16 THRB THRA
12 hormone-mediated signaling pathway GO:0009755 9.02 TSHR TSHB TRH THRB THRA
13 female courtship behavior GO:0008050 8.96 THRB THRA

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 9.33 TSHB TRH TG
2 thyroid hormone binding GO:0070324 8.96 THRB THRA
3 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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