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MCID: GNR008
MIFTS: 40

Generalized Resistance to Thyroid Hormone

Categories: Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Generalized Resistance to Thyroid Hormone

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MalaCards integrated aliases for Generalized Resistance to Thyroid Hormone:

Name: Generalized Resistance to Thyroid Hormone 54 60
Refetoff Syndrome 54 60
Thyroid Hormone Resistance, Generalized, Autosomal Recessive 74
Deafness-Thyroid Hormone Resistance Syndrome 60
Thyroid Hormone Resistance Syndrome 74
Thyroid Hormone Receptor Beta 54
Grth 54
Thrb 54

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Ear diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 35 E07.8
UMLS via Orphanet 75 C2940786 C3489796
Orphanet 60 ORPHA3221
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Summaries for Generalized Resistance to Thyroid Hormone

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MalaCards based summary : Generalized Resistance to Thyroid Hormone, also known as refetoff syndrome, is related to lipodystrophy, familial partial, type 3 and hyperthyroidism. An important gene associated with Generalized Resistance to Thyroid Hormone is THRB (Thyroid Hormone Receptor Beta). The drugs Guaifenesin and Pseudoephedrine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, pituitary and kidney, and related phenotypes are delayed skeletal maturation and pectus carinatum

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Related Diseases for Generalized Resistance to Thyroid Hormone

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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 60)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, familial partial, type 3 31.6 THRB TXNRD2
2 hyperthyroidism 31.2 PRL THRB TRH
3 graves disease 1 31.2 THRB TRH TXNRD2
4 thyroid gland disease 30.5 PRL THRB TRH TXNRD2
5 thyroid hormone resistance, generalized, autosomal dominant 30.1 THRB TRH TXNRD2
6 thyroiditis 29.4 THRB TRH TXNRD2
7 goiter 29.4 THRB TRH TXNRD2
8 hypothyroidism 29.2 PRL THRB TRH
9 thyroid cancer 11.6
10 thyroid cancer, nonmedullary, 2 11.3
11 graves' disease 11.2
12 enhanced s-cone syndrome 11.1
13 plummer's disease 11.1
14 radial neuropathy 11.1
15 thyroid crisis 11.1
16 hypothyroidism, congenital, nongoitrous, 3 11.0
17 hepatosplenic t-cell lymphoma 10.2
18 atrial fibrillation 10.1
19 thyroid hormone resistance, generalized, autosomal recessive 10.1
20 breast cancer 10.0
21 thyroid cancer, nonmedullary, 1 10.0
22 hypothyroidism, congenital, nongoitrous, 2 10.0
23 wilson disease 10.0
24 congenital hypothyroidism 10.0
25 squamous cell carcinoma 10.0
26 hypogonadism 10.0
27 hypogonadotropism 10.0
28 attention deficit-hyperactivity disorder 9.9
29 thyroid hormone resistance, selective pituitary 9.9
30 pol iii-related leukodystrophies 9.9
31 renal cell carcinoma, nonpapillary 9.9
32 polycythemia vera 9.9
33 testicular regression syndrome 9.9
34 gastric cancer 9.9
35 leukemia 9.9
36 schistosomiasis 9.9
37 kidney cancer 9.9
38 pituitary adenoma 9.9
39 clear cell renal cell carcinoma 9.9
40 adenoma 9.9
41 myotonic dystrophy 9.9
42 myotonia atrophica 9.9
43 hypoxia 9.9
44 audiogenic seizures 9.9
45 adenohypophysitis 9.9 PRL TRH
46 pseudohypoparathyroidism, type ia 9.9 PRL TRH
47 empty sella syndrome 9.8 PRL TRH
48 hyperpituitarism 9.8 PRL TRH
49 functioning pituitary adenoma 9.8 PRL TRH
50 hypothyroidism, congenital, nongoitrous, 4 9.8 PRL TRH

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



Diseases related to Generalized Resistance to Thyroid Hormone
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Symptoms & Phenotypes for Generalized Resistance to Thyroid Hormone

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Human phenotypes related to Generalized Resistance to Thyroid Hormone:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
2 pectus carinatum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000768
3 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
4 epiphyseal stippling 60 33 hallmark (90%) Very frequent (99-80%) HP:0010655
5 sprengel anomaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000912
6 convex nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000444
7 abnormality of the thyroid gland 60 33 hallmark (90%) Very frequent (99-80%) HP:0000820

MGI Mouse Phenotypes related to Generalized Resistance to Thyroid Hormone:

47
# 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
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Drugs & Therapeutics for Generalized Resistance to Thyroid Hormone

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Guaifenesin Approved, Investigational, Vet_approved Phase 2 93-14-1 3516
2
Pseudoephedrine Approved Phase 2 90-82-4 7028
3
Ephedrine Approved Phase 2 299-42-3 9294
4 Adrenergic alpha-Agonists Phase 2
5 Appetite Depressants Phase 2
6 Hormones Phase 2
7 Respiratory System Agents Phase 2
8 Peripheral Nervous System Agents Phase 2
9 Anti-Obesity Agents Phase 2
10 Nasal Decongestants Phase 2
11 Expectorants Phase 2
12 Hormone Antagonists Phase 2
13 Adrenergic Agonists Phase 2
14 Adrenergic Agents Phase 2
15 Sympathomimetics Phase 2
16
Chlorpheniramine Phase 2 113-92-8, 132-22-9 2725
17 Vasoconstrictor Agents Phase 2
18 Autonomic Agents Phase 2
19 Neurotransmitter Agents Phase 2
20 Chlorpheniramine, phenylpropanolamine drug combination Phase 2
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Thyroid Hormone Analog Therapy in MCT8 Deficiency: Triac Trial Patients Completed NCT02060474 Phase 2 Triac
2 TSH Receptor Mutations Among a Consanguineous Community Completed NCT00747760
3 Evaluation of Patients With Thyroid Disorders Recruiting NCT00001159
4 The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism Withdrawn NCT01223638

Search NIH Clinical Center for Generalized Resistance to Thyroid Hormone

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Genetic Tests for Generalized Resistance to Thyroid Hormone

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Anatomical Context for Generalized Resistance to Thyroid Hormone

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

42
Thyroid, Pituitary, Kidney, Breast, T Cells
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Publications for Generalized Resistance to Thyroid Hormone

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Articles related to Generalized Resistance to Thyroid Hormone:

(show all 31)
# Title Authors Year
1
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). ( 17827792 )
2007
2
Atrial fibrillation and mitral prolapse in a subject affected by Refetoff syndrome. ( 12032470 )
2002
3
Toxic multinodular goitre in a patient with generalized resistance to thyroid hormone who harbours the R429Q mutation in the thyroid hormone receptor beta gene. ( 11167935 )
2001
4
Three Japanese patients from two families with generalized resistance to thyroid hormone with mutations in exon 9 of the thyroid hormone receptor beta gene. ( 11518118 )
2001
5
Generalized resistance to thyroid hormone associated with possible selective cardiac nonresistance. ( 11141590 )
2000
6
Inappropriate thyroid gland ablation in patients with generalized resistance to thyroid hormone. A common sequela of a rare disorder. ( 8526688 )
1996
7
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. ( 8664910 )
1996
8
Thyroid hormone receptor-beta mutants associated with generalized resistance to thyroid hormone show defects in their ligand-sensitive repression function. ( 8584031 )
1995
9
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. ( 8674855 )
1995
10
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. ( 7873749 )
1994
11
Autoimmune hypothyroidism in a patient with generalized resistance to thyroid hormone. ( 8272919 )
1993
12
The relative expression of mutant and normal thyroid hormone receptor genes in patients with generalized resistance to thyroid hormone determined by estimation of their specific messenger ribonucleic acid products. ( 8421105 )
1993
13
Attention deficit-hyperactivity disorder in people with generalized resistance to thyroid hormone. ( 8450877 )
1993
14
Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone. ( 8486789 )
1993
15
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. ( 8514853 )
1993
16
Generalized resistance to thyroid hormone (GRTH) in a family: case studies. ( 1294371 )
1992
17
Transcriptional activity of a mutant thyroid hormone receptor beta in a family with generalized resistance to thyroid hormone. ( 1301392 )
1992
18
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. ( 1400869 )
1992
19
New insights on the mechanism(s) of the dominant negative effect of mutant thyroid hormone receptor in generalized resistance to thyroid hormone. ( 1430208 )
1992
20
Variable transcriptional activity and ligand binding of mutant beta 1 3,5,3'-triiodothyronine receptors from four families with generalized resistance to thyroid hormone. ( 1569968 )
1992
21
A point mutation of the T3 receptor beta 1 gene in a kindred of generalized resistance to thyroid hormone. ( 1587388 )
1992
22
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. ( 1619012 )
1992
23
Homozygosity for a dominant negative thyroid hormone receptor gene responsible for generalized resistance to thyroid hormone. ( 1682340 )
1991
24
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. ( 1991834 )
1991
25
Dominant negative transcriptional regulation by a mutant thyroid hormone receptor-beta in a family with generalized resistance to thyroid hormone. ( 2082193 )
1990
26
Serum thyrotropin and prolactin in the syndrome of generalized resistance to thyroid hormone: responses to thyrotropin-releasing hormone stimulation and short term triiodothyronine suppression. ( 2110573 )
1990
27
Neonatal detection of generalized resistance to thyroid hormone. ( 2120481 )
1990
28
Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta. ( 2510172 )
1989
29
The syndrome of generalized resistance to thyroid hormone (GRTH). ( 2699456 )
1989
30
A case of refetoff syndrome: selective venous sampling for TSH is useful in differentiating thyroid hormone resistance from TSH secreting tumor. ( 2711378 )
1989
31
Use of bromocriptine in a patient with generalized resistance to thyroid hormone. ( 6699135 )
1984
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Variations for Generalized Resistance to Thyroid Hormone

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Expression for Generalized Resistance to Thyroid Hormone

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

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GO Terms for Generalized Resistance to Thyroid Hormone

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

# Name GO ID Score Top Affiliating Genes
1 secretory granule GO:0030141 8.32 TRH

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

# Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 8.85 TRH
2 response to ethanol GO:0045471 8.65 TRH
3 hormone-mediated signaling pathway GO:0009755 8.62 THRB TRH

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 PRL TRH
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Sources for Generalized Resistance to Thyroid Hormone

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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