GRTH
MCID: THY112
MIFTS: 50

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 Syndrome 12 36 29 6 43 15 71
Thyroid Hormone Resistance 56 12 13 54
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 237559000
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 syndrome, 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:

(show top 50) (show all 106)
# 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 thyroid hormone resistance, selective pituitary 31.2 TXNRD2 TSHB TRH THRB THRA
5 graves' disease 29.9 TSHR THRB TG SERPINA7
6 athyreosis 29.8 TSHR TG
7 papillary thyroid microcarcinoma 29.7 TSHR TG
8 exophthalmos 29.5 TSHR TG
9 hyperthyroxinemia 29.5 TSHR TRH THRB TG SERPINA7
10 hyperthyroidism 29.3 TSHR TRH THRB TG SLC16A2 SHBG
11 neonatal thyrotoxicosis 29.0 TSHR THRA TG SLC16A2
12 thyroiditis 28.9 TSHR TSHB TRH THRB TG SERPINA7
13 hashimoto thyroiditis 28.9 TSHR TSHB TG
14 goiter 28.9 TXNRD2 TSHR TRH THRB TG SHBG
15 allan-herndon-dudley syndrome 28.7 TSHB TRH THRB THRA SLC16A2
16 body mass index quantitative trait locus 11 28.6 TXNRD2 TRH THRA SHBG NR1H2 LCOR
17 congenital hypothyroidism 28.3 TSHR TSHB THRA TG SHBG SERPINA7
18 graves disease 1 27.6 TXNRD2 TSHR TRH THRSP THRB TG
19 hypothyroidism 26.6 TXNRD2 TSHR TSHB TRH THRSP THRB
20 thyroid hormone resistance, generalized, autosomal recessive 11.7
21 thyroid hormone plasma membrane transport defect 11.6
22 hypothyroidism, congenital, nongoitrous, 3 11.5
23 hyperthyroxinemia, familial dysalbuminemic 11.3
24 azoospermia 10.3
25 acute thyroiditis 10.3 TG SERPINA7
26 papillomatosis, confluent and reticulated 10.3
27 postsurgical hypothyroidism 10.3 TRH TG
28 pituitary adenoma 10.3
29 male infertility 10.2
30 infertility 10.2
31 thyroid carcinoma 10.1
32 complete androgen insensitivity syndrome 10.1 SHBG NR1H2
33 orthostatic intolerance 10.1
34 atrial fibrillation 10.1
35 primary hyperparathyroidism 10.1
36 hyperparathyroidism 10.1
37 pituitary tumors 10.1
38 tremor 10.1
39 attention deficit-hyperactivity disorder 10.1
40 hyperthyroxinemia, dystransthyretinemic 10.1
41 constipation 10.1
42 adenoma 10.1
43 iodine hypothyroidism 10.1 TSHR TG
44 suprasellar meningioma 10.1 TSHB TRH
45 subacute lymphocytic thyroiditis 10.1 TSHR TG
46 learning disability 10.0
47 hypotonia 10.0
48 hypothyroidism, central, with testicular enlargement 10.0 TSHB TRH
49 turner syndrome 10.0 TG SHBG SERPINA7
50 hypothalamic disease 10.0 TSHB TRH

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:

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
# 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones

Interventional clinical trials:


# 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 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, Bone, Heart, Testis

Publications for Thyroid Hormone Resistance, Generalized, Autosomal Dominant

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

(show top 50) (show all 107)
# Title Authors PMID Year
1
Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone. 56 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. 56 6
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 56
2153155 1990
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. 6 56
3571851 1986
6
Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome. 6 61 54
1563081 1992
7
The thyroid hormone receptor-beta gene mutation R383H is associated with isolated central resistance to thyroid hormone. 54 6
10487671 1999
8
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 6
8013151 1994
9
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 6
1324420 1992
10
Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance. 6 54
1548332 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. 6 54
1677564 1991
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. 56
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. 56
8954015 1996
19
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
20
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
21
Phenotypic variability in patients with generalised resistance to thyroid hormone. 6
7616549 1995
22
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
23
A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone. 6
8175986 1994
24
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
25
The syndromes of resistance to thyroid hormone. 56
8319599 1993
26
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
27
Attention deficit-hyperactivity disorder in people with generalized resistance to thyroid hormone. 56
8450877 1993
28
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
29
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
30
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
31
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
32
A point mutation of the T3 receptor beta 1 gene in a kindred of generalized resistance to thyroid hormone. 6
1587388 1992
33
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
34
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
35
Structural analysis of human thyroid hormone receptor beta gene. 6
1973914 1990
36
Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA beta gene. 56
2905763 1988
37
Familial partial peripheral and pituitary resistance to thyroid hormone: a frequently missed diagnosis? 56
3097618 1986
38
The c-erb-A gene encodes a thyroid hormone receptor. 6
2879243 1986
39
Familial euthyroid hyperthyroxinemia secondary to pituitary and peripheral resistance to thyroid hormones. 56
2981377 1985
40
Resistance to thyroid hormones. A disorder frequently confused with Graves' disease. 56
6289763 1982
41
Familial thyroid hormone resistance. 6
7200565 1982
42
Familial thyroid hormone resistance. 56
6792914 1981
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. 61 54
19169485 2008
47
A newly identified insertion mutation in the thyroid hormone receptor-beta gene in a Korean family with generalized thyroid hormone resistance. 61 54
17596672 2007
48
[Study on TR beta gene mutation in a thyroid hormone resistance syndrome family]. 54 61
16883531 2006
49
DNA-based diagnosis of thyroid hormone resistance syndrome: a novel THRB mutation associated with mild resistance to thyroid hormone. 61 54
15913586 2005
50
Thyroid hormone receptor mutations and disease: beyond thyroid hormone resistance. 54 61
15860414 2005

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 236) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 THRB NM_001354712.2(THRB):c.1305T>G (p.His435Gln)SNV Pathogenic 437004 rs1553609185 3:24164456-24164456 3:24122965-24122965
2 THRB NM_001354712.2(THRB):c.1357C>T (p.Pro453Ser)SNV Pathogenic 439310 rs28933408 3:24164404-24164404 3:24122913-24122913
3 THRB NM_001354712.2(THRB):c.1378G>A (p.Glu460Lys)SNV Pathogenic 492926 rs1553609090 3:24164383-24164383 3:24122892-24122892
4 THRB NM_001354712.2(THRB):c.1358dup (p.Leu454fs)duplication Pathogenic 492925 rs1553609119 3:24164402-24164403 3:24122911-24122912
5 THRB NM_001354712.2(THRB):c.1357C>G (p.Pro453Ala)SNV Pathogenic 492924 rs28933408 3:24164404-24164404 3:24122913-24122913
6 THRB NM_001354712.2(THRB):c.1348C>T (p.Leu450Phe)SNV Pathogenic 492923 rs1553609152 3:24164413-24164413 3:24122922-24122922
7 THRB NM_001354712.2(THRB):c.1312C>T (p.Arg438Cys)SNV Pathogenic 492921 rs367757240 3:24164449-24164449 3:24122958-24122958
8 THRB NM_001354712.2(THRB):c.1312del (p.Arg438fs)deletion Pathogenic 492922 rs1553609179 3:24164449-24164449 3:24122958-24122958
9 THRB NM_001354712.2(THRB):c.1031G>A (p.Gly344Glu)SNV Pathogenic 492918 rs1553610974 3:24169103-24169103 3:24127612-24127612
10 THRB NM_001354712.2(THRB):c.980C>A (p.Thr327Asn)SNV Pathogenic 492917 rs1553611038 3:24169154-24169154 3:24127663-24127663
11 THRB NM_001354712.2(THRB):c.941C>T (p.Ser314Phe)SNV Pathogenic 492916 rs1553611075 3:24169193-24169193 3:24127702-24127702
12 THRB NM_001354712.2(THRB):c.938T>C (p.Met313Thr)SNV Pathogenic 492915 rs1553611083 3:24169196-24169196 3:24127705-24127705
13 THRB NM_001354712.2(THRB):c.928A>G (p.Met310Val)SNV Pathogenic 492914 rs1553611094 3:24169206-24169206 3:24127715-24127715
14 THRB NM_001354712.2(THRB):c.1326_1327delinsAT (p.Met442_Lys443delinsIleTer)indel Pathogenic 545656 rs1553609167 3:24164434-24164435 3:24122943-24122944
15 THRB NM_001354712.2(THRB):c.1286G>A (p.Arg429Gln)SNV Pathogenic 548123 rs1553609210 3:24164475-24164475 3:24122984-24122984
16 THRB NM_001354712.2(THRB):c.1033G>C (p.Gly345Arg)SNV Pathogenic 12535 rs121918686 3:24169101-24169101 3:24127610-24127610
17 THRB NM_001354712.2(THRB):c.1020G>C (p.Gln340His)SNV Pathogenic 12536 rs121918688 3:24169114-24169114 3:24127623-24127623
18 THRB NM_001354712.2(THRB):c.1358C>A (p.Pro453His)SNV Pathogenic 12537 rs121918687 3:24164403-24164403 3:24122912-24122912
19 THRB NM_001354712.2(THRB):c.929T>C (p.Met310Thr)SNV Pathogenic 12540 rs121918699 3:24169205-24169205 3:24127714-24127714
20 THRB NM_001354712.2(THRB):c.964G>C (p.Asp322His)SNV Pathogenic 12541 rs121918700 3:24169170-24169170 3:24127679-24127679
21 THRB NM_001354712.2(THRB):c.949G>A (p.Ala317Thr)SNV Pathogenic 12542 rs121918690 3:24169185-24169185 3:24127694-24127694
22 THRB NM_001354712.2(THRB):c.1034G>A (p.Gly345Asp)SNV Pathogenic 12544 rs28999970 3:24169100-24169100 3:24127609-24127609
23 THRB NM_001354712.2(THRB):c.1034G>T (p.Gly345Val)SNV Pathogenic 12545 rs28999970 3:24169100-24169100 3:24127609-24127609
24 THRB NM_001354712.2(THRB):c.1040G>A (p.Gly347Glu)SNV Pathogenic 12546 rs28999971 3:24169094-24169094 3:24127603-24127603
25 THRB NM_001354712.2(THRB):c.1349T>A (p.Leu450His)SNV Pathogenic 12548 rs121918701 3:24164412-24164412 3:24122921-24122921
26 THRB THRB, 1-BP INS, 1627Cinsertion Pathogenic 12549
27 THRB NM_001354712.2(THRB):c.1357C>A (p.Pro453Thr)SNV Pathogenic 12550 rs28933408 3:24164404-24164404 3:24122913-24122913
28 THRB NM_001354712.2(THRB):c.1327A>G (p.Lys443Glu)SNV Pathogenic 12551 rs121918692 3:24164434-24164434 3:24122943-24122943
29 THRB NM_001354712.2(THRB):c.1033G>A (p.Gly345Ser)SNV Pathogenic 12552 rs121918686 3:24169101-24169101 3:24127610-24127610
30 THRB NM_001354712.2(THRB):c.700G>A (p.Ala234Thr)SNV Pathogenic 12554 rs121918694 3:24185030-24185030 3:24143539-24143539
31 THRB NM_001354712.2(THRB):c.958C>T (p.Arg320Cys)SNV Pathogenic 12557 rs121918696 3:24169176-24169176 3:24127685-24127685
32 THRB NM_001354712.2(THRB):c.1012C>T (p.Arg338Trp)SNV Pathogenic 12558 rs121918697 3:24169122-24169122 3:24127631-24127631
33 THRB NM_001354712.2(THRB):c.1313G>A (p.Arg438His)SNV Pathogenic 12559 rs121918698 3:24164448-24164448 3:24122957-24122957
34 THRB THRB, 1-BP INS, 1644Cinsertion Pathogenic 12560
35 THRB NM_001354712.2(THRB):c.1376T>G (p.Phe459Cys)SNV Pathogenic 12561 rs121918702 3:24164385-24164385 3:24122894-24122894
36 THRB NM_001354712.2(THRB):c.1336T>C (p.Cys446Arg)SNV Pathogenic 12563 rs121918703 3:24164425-24164425 3:24122934-24122934
37 THRB NM_001354712.2(THRB):c.1302C>A (p.Cys434Ter)SNV Pathogenic 12565 rs121918705 3:24164459-24164459 3:24122968-24122968
38 THRB NM_001354712.2(THRB):c.728G>A (p.Arg243Gln)SNV Pathogenic 12566 rs121918706 3:24185002-24185002 3:24143511-24143511
39 THRB NM_001354712.2(THRB):c.727C>T (p.Arg243Trp)SNV Pathogenic 12567 rs121918707 3:24185003-24185003 3:24143512-24143512
40 THRB NM_001354712.2(THRB):c.1148G>A (p.Arg383His)SNV Pathogenic 12568 rs121918708 3:24164613-24164613 3:24123122-24123122
41 THRB THRB, 1-BP DEL, CODON 438, Cdeletion Pathogenic 12570
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.977A>G (p.Glu326Gly)SNV Likely pathogenic 397581 rs1060499695 3:24169157-24169157 3:24127666-24127666
44 THRB NM_001354712.2(THRB):c.1021C>G (p.Leu341Val)SNV Likely pathogenic 429021 rs1553610984 3:24169113-24169113 3:24127622-24127622
45 THRB NM_001354712.2(THRB):c.1373T>C (p.Val458Ala)SNV Likely pathogenic 12564 rs121918704 3:24164388-24164388 3:24122897-24122897
46 THRB NM_001354712.2(THRB):c.1324A>G (p.Met442Val)SNV Likely pathogenic 12547 rs121918691 3:24164437-24164437 3:24122946-24122946
47 THRB NM_001354712.2(THRB):c.1033G>T (p.Gly345Cys)SNV Likely pathogenic 492919 rs121918686 3:24169101-24169101 3:24127610-24127610
48 THRB NM_001354712.2(THRB):c.1351T>G (p.Phe451Val)SNV Likely pathogenic 375302 rs1057519028 3:24164410-24164410 3:24122919-24122919
49 THRB NM_001354712.2(THRB):c.213C>A (p.Asp71Glu)SNV Conflicting interpretations of pathogenicity 344637 rs141495471 3:24231635-24231635 3:24190144-24190144
50 THRB NM_001354712.2(THRB):c.959G>A (p.Arg320His)SNV Conflicting interpretations of pathogenicity 12553 rs121918693 3:24169175-24169175 3:24127684-24127684

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

73 (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 11.52 THRB THRA SLC16A2
2
Show member pathways
11.09 THRB THRA NR1H2
3 10.27 TSHR TSHB
4 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:

# Name GO ID Score Top Affiliating Genes
1 host cell nucleus GO:0042025 9.13 THRB THRA NR1H2
2 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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transcription initiation from RNA polymerase II promoter GO:0006367 9.65 THRB THRA NR1H2
2 steroid hormone mediated signaling pathway GO:0043401 9.58 THRB THRA NR1H2
3 intracellular receptor signaling pathway GO:0030522 9.51 THRB THRA
4 regulation of heart contraction GO:0008016 9.49 THRB THRA
5 thyroid hormone generation GO:0006590 9.46 TG SLC16A2
6 thyroid hormone transport GO:0070327 9.43 SLC16A2 SERPINA7
7 response to lipid GO:0033993 9.43 THRB THRA NR1H2
8 type I pneumocyte differentiation GO:0060509 9.37 THRB THRA
9 thyroid hormone mediated signaling pathway GO:0002154 9.32 THRB THRA
10 female courtship behavior GO:0008050 9.16 THRB THRA
11 thyroid gland development GO:0030878 9.13 THRB THRA TG
12 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:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 9.67 TSHR THRB THRA NR1H2
2 hormone activity GO:0005179 9.58 TSHB TRH TG
3 nuclear receptor transcription coactivator activity GO:0030374 9.43 THRB THRA NR1H2
4 steroid hormone receptor activity GO:0003707 9.33 THRB THRA NR1H2
5 thyroid hormone binding GO:0070324 9.32 THRB THRA
6 nuclear receptor activity GO:0004879 9.13 THRB THRA NR1H2
7 transcription factor activity, direct ligand regulated sequence-specific DNA binding GO:0098531 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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