GRTH
MCID: GNR008
MIFTS: 30

Generalized Resistance to Thyroid Hormone (GRTH)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Generalized Resistance to Thyroid Hormone

MalaCards integrated aliases for Generalized Resistance to Thyroid Hormone:

Name: Generalized Resistance to Thyroid Hormone 52
Thyroid Hormone Resistance, Generalized, Autosomal Recessive 71
Thyroid Hormone Resistance Syndrome 71
Thyroid Hormone Receptor Beta 52
Refetoff Syndrome 52
Grth 52
Thrb 52

Classifications:



External Ids:

UMLS 71 C2940786 C3489796

Summaries for Generalized Resistance to Thyroid Hormone

MalaCards based summary : Generalized Resistance to Thyroid Hormone, also known as thyroid hormone resistance, generalized, autosomal recessive, is related to allan-herndon-dudley syndrome and hyperthyroxinemia. An important gene associated with Generalized Resistance to Thyroid Hormone is THRB (Thyroid Hormone Receptor Beta). The drugs Liver Extracts and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include thyroid, liver and pituitary, and related phenotypes are delayed skeletal maturation and pectus carinatum

Related Diseases for Generalized Resistance to Thyroid Hormone

Diseases in the Generalized Resistance to Thyroid Hormone family:

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

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

(show top 50) (show all 113)
# Related Disease Score Top Affiliating Genes
1 allan-herndon-dudley syndrome 32.1 TRH THRB
2 hyperthyroxinemia 31.5 TRH THRB
3 thyroid gland disease 30.7 TRH THRB PRL
4 thyroid hormone resistance, generalized, autosomal dominant 30.0 TXNRD2 TRH THRB
5 pituitary adenoma 29.6 TRH PRL
6 graves disease 1 29.6 TXNRD2 TRH THRB
7 pituitary adenoma, prolactin-secreting 29.2 TRH PRL
8 hyperthyroidism 29.2 TRH THRB PRL
9 thyroiditis 29.0 TRH THRB PRL
10 panic disorder 28.9 TRH PRL
11 attention deficit-hyperactivity disorder 28.9 TXNRD2 THRB PRL
12 goiter 28.8 TXNRD2 TRH THRB PRL
13 hypothyroidism 28.7 TXNRD2 TRH THRB PRL
14 thyroid gland cancer 11.3
15 coffin-siris syndrome 1 11.2
16 thyroid cancer, nonmedullary, 2 11.2
17 myxedema 11.1
18 enhanced s-cone syndrome 11.1
19 plummer's disease 11.1
20 thyroid crisis 11.1
21 resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta 11.1
22 thyroid tumor 11.1
23 thyroid hormone resistance, generalized, autosomal recessive 10.5
24 azoospermia 10.3
25 hepatosplenic t-cell lymphoma 10.3
26 hypercholesterolemia, familial, 1 10.2
27 male infertility 10.2
28 infertility 10.2
29 atrial fibrillation 10.1
30 primary hyperparathyroidism 10.1
31 hyperparathyroidism 10.1
32 tremor 10.1
33 thyroid hormone resistance, selective pituitary 10.1
34 graves' disease 10.1
35 learning disability 10.1
36 breast cancer 10.0
37 renal cell carcinoma, nonpapillary 10.0
38 thyroid cancer, nonmedullary, 1 10.0
39 von hippel-lindau syndrome 10.0
40 hypothyroidism, congenital, nongoitrous, 2 10.0
41 myelofibrosis 10.0
42 polycythemia vera 10.0
43 wilson disease 10.0
44 branchiootic syndrome 1 10.0
45 congenital hypothyroidism 10.0
46 respiratory allergy 10.0
47 neutropenia 10.0
48 squamous cell carcinoma 10.0
49 cheilitis 10.0
50 hypogonadism 10.0

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



Diseases related to Generalized Resistance to Thyroid Hormone

Symptoms & Phenotypes for Generalized Resistance to Thyroid Hormone

Human phenotypes related to Generalized Resistance to Thyroid Hormone:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 31 hallmark (90%) HP:0002750
2 pectus carinatum 31 hallmark (90%) HP:0000768
3 sensorineural hearing impairment 31 hallmark (90%) HP:0000407
4 epiphyseal stippling 31 hallmark (90%) HP:0010655
5 sprengel anomaly 31 hallmark (90%) HP:0000912
6 convex nasal ridge 31 hallmark (90%) HP:0000444
7 abnormality of the thyroid gland 31 hallmark (90%) HP:0000820

MGI Mouse Phenotypes related to Generalized Resistance to Thyroid Hormone:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.26 PRL THRB TRH TXNRD2
2 no phenotypic analysis MP:0003012 8.8 THRB TRH TXNRD2

Drugs & Therapeutics for Generalized Resistance to Thyroid Hormone

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 3
2 Hormone Antagonists Phase 3
3 Hormones Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A 52-Week, Phase 3 Study to Evaluate Safety and Biomarkers of Resmetirom (MGL-3196) in Patients With Non-alcoholic Fatty Liver Disease (NAFLD) (MAESTRO-NAFLD-1) Recruiting NCT04197479 Phase 3 Placebo;Resmetirom
2 The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism Withdrawn NCT01223638

Search NIH Clinical Center for Generalized Resistance to Thyroid Hormone

Genetic Tests for Generalized Resistance to Thyroid Hormone

Anatomical Context for Generalized Resistance to Thyroid Hormone

MalaCards organs/tissues related to Generalized Resistance to Thyroid Hormone:

40
Thyroid, Liver, Pituitary

Publications for Generalized Resistance to Thyroid Hormone

Articles related to Generalized Resistance to Thyroid Hormone:

(show top 50) (show all 81)
# Title Authors PMID Year
1
Familial Dysalbuminemic Hyperthyroxinemia in a Japanese Man Caused by a Point Albumin Gene Mutation (R218P). 61
27081329 2016
2
Evaluation of thyroid hormone action in a case of generalized resistance to thyroid hormone with chronic thyroiditis: discovery of a novel heterozygous missense mutation (G347A). 61
17827792 2007
3
[Some neurologic and psychiatric complications in endocrine disorders: the thyroid gland]. 61
17344150 2007
4
Thyroid hormone resistance: the role of mutational analysis. 61
17040361 2006
5
The role of polyhalogenated aromatic hydrocarbons on thyroid hormone disruption and cognitive function: a review. 61
15573475 2004
6
Atrial fibrillation and mitral prolapse in a subject affected by Refetoff syndrome. 61
12032470 2002
7
Three Japanese patients from two families with generalized resistance to thyroid hormone with mutations in exon 9 of the thyroid hormone receptor beta gene. 61
11518118 2001
8
Toxic multinodular goitre in a patient with generalized resistance to thyroid hormone who harbours the R429Q mutation in the thyroid hormone receptor beta gene. 61
11167935 2001
9
Generalized resistance to thyroid hormone associated with possible selective cardiac nonresistance. 61
11141590 2000
10
[Thyroid hormone resistance syndromes: clinical aspects]. 61
10635073 1999
11
The thyroid hormone receptor-beta gene mutation R383H is associated with isolated central resistance to thyroid hormone. 61
10487671 1999
12
DNA binding affinity of hTRbeta1 mutants as heterodimers with traps from different tissues. 61
10401662 1999
13
Altered cardiac phenotype in transgenic mice carrying the delta337 threonine thyroid hormone receptor beta mutant derived from the S family. 61
9927321 1999
14
Molecular and structural biology of thyroid hormone receptors. 61
9809185 1998
15
Mechanisms of thyroid hormone action: insights from X-ray crystallographic and functional studies. 61
9769715 1998
16
[Generalized resistance to thyroid hormones in four patients with nodular goiter]. 61
9686502 1998
17
Regulation of the human TRH (hTRH) gene by human thyroid hormone receptor beta 1 (hTR beta 1) mutants. 61
9430820 1997
18
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. 61
9368505 1997
19
Thyroid function in a population of children with attention deficit hyperactivity disorder. 61
9145353 1997
20
Introducing a point mutation identified in a patient with pituitary resistance to thyroid hormone (Arg 338 to Trp) into other mutant thyroid hormone receptors weakens their dominant negative activities. 61
8958790 1996
21
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. 61
8664910 1996
22
Mild resistance to thyroid hormone with a truncated thyroid hormone receptor beta. 61
8886752 1996
23
Inappropriate thyroid gland ablation in patients with generalized resistance to thyroid hormone. A common sequela of a rare disorder. 61
8526688 1996
24
Functional analysis of a proline to serine mutation in codon 453 of the thyroid hormone receptor beta 1 gene. 61
7593432 1995
25
Thyroid hormone receptor-beta mutants associated with generalized resistance to thyroid hormone show defects in their ligand-sensitive repression function. 61
8584031 1995
26
Two consecutive nucleotide substitutions resulting in the T3 receptor beta gene resulting in an 11-amino acid truncation in a patient with generalized resistance to thyroid hormone. 61
8674855 1995
27
Functional properties of a mutant T3 receptor beta (R338W) identified in a subject with pituitary resistance to thyroid hormone. 61
8674808 1995
28
ADHD and thyroid abnormalities: a research note. 61
7559851 1995
29
Generalized resistance to thyroid hormone: identification of a novel c-erbA beta thyroid hormone receptor variant (Leu450) in a Japanese family and analysis of its secondary structure by the Chou and Fasman method. 61
7873749 1994
30
Resistance to thyroid hormone in children. 61
7951671 1994
31
[Hyperkinetic disorder--a new view? (Generalized resistance to thyroid hormone)]. 61
7987930 1994
32
Thyroid hormone receptor binds with unique properties to response elements that contain hexamer domains in an inverted palindrome arrangement. 61
8137757 1994
33
[Diagnosis of thyroid hormone resistance by molecular biology]. 61
8196182 1994
34
Generalized thyroid hormone resistance due to a deletion of the carboxy terminus of the c-erbA beta receptor. 61
8187964 1994
35
Thyroid function and attention-deficit hyperactivity disorder. 61
8150787 1994
36
Resistance to thyroid hormone and its molecular basis. 61
8165897 1994
37
Congenital hypothyroidism: etiology and pathogenesis. 61
7879996 1994
38
Autoimmune hypothyroidism in a patient with generalized resistance to thyroid hormone. 61
8272919 1993
39
Interaction of human beta 1 thyroid hormone receptor and its mutants with DNA and retinoid X receptor beta. T3 response element-dependent dominant negative potency. 61
8408652 1993
40
Dominant negative inhibition by mutant thyroid hormone receptors is thyroid hormone response element and receptor isoform specific. 61
8264663 1993
41
Attention-deficit hyperactivity disorder and thyroid function. 61
8410504 1993
42
Thyroid hormone resistance syndrome: correlation of dominant negative activity and location of mutations. 61
8408475 1993
43
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. 61
8514853 1993
44
Pituitary resistance to thyroid hormone associated with a base mutation in the hormone-binding domain of the human 3,5,3'-triiodothyronine receptor-beta. 61
8496318 1993
45
Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone. 61
8486789 1993
46
Attention deficit-hyperactivity disorder in people with generalized resistance to thyroid hormone. 61
8450877 1993
47
Thyroid hormone resistance syndromes. 61
8475937 1993
48
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
8384535 1993
49
Characterization of a novel mutant human thyroid hormone receptor beta in a family with hereditary thyroid hormone resistance. 61
8435883 1993
50
Multiple genetic factors in the heterogeneity of thyroid hormone resistance. 61
8421095 1993

Variations for Generalized Resistance to Thyroid Hormone

Expression for Generalized Resistance to Thyroid Hormone

Search GEO for disease gene expression data for Generalized Resistance to Thyroid Hormone.

Pathways for Generalized Resistance to Thyroid Hormone

GO Terms for Generalized Resistance to Thyroid Hormone

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

# Name GO ID Score Top Affiliating Genes
1 hormone-mediated signaling pathway GO:0009755 8.62 TRH THRB

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.62 TRH PRL

Sources for Generalized Resistance to Thyroid Hormone

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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