MCID: GNR008
MIFTS: 36

Generalized Resistance to Thyroid Hormone

Categories: Rare diseases, Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Generalized Resistance to Thyroid Hormone

MalaCards integrated aliases for Generalized Resistance to Thyroid Hormone:

Name: Generalized Resistance to Thyroid Hormone 53 59
Refetoff Syndrome 53 59
Thyroid Hormone Resistance, Generalized, Autosomal Recessive 73
Deafness-Thyroid Hormone Resistance Syndrome 59
Thyroid Hormone Resistance Syndrome 73
Thyroid Hormone Receptor Beta 53
Grth 53
Thrb 53

Classifications:



External Ids:

Orphanet 59 ORPHA3221
UMLS via Orphanet 74 C2940786 C3489796
ICD10 via Orphanet 34 E07.8
UMLS 73 C3489796

Summaries for Generalized Resistance to Thyroid Hormone

MalaCards based summary : Generalized Resistance to Thyroid Hormone, also known as refetoff syndrome, is related to thyroid hormone resistance, generalized, autosomal dominant and thyroiditis. An important gene associated with Generalized Resistance to Thyroid Hormone is THRB (Thyroid Hormone Receptor Beta). The drugs Ephedrine and Pseudoephedrine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, and related phenotypes are sensorineural hearing impairment and convex nasal ridge

Related Diseases for Generalized Resistance to Thyroid Hormone

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:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
2 convex nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000444
3 pectus carinatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000768
4 abnormality of the thyroid gland 59 32 hallmark (90%) Very frequent (99-80%) HP:0000820
5 sprengel anomaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000912
6 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
7 epiphyseal stippling 59 32 hallmark (90%) Very frequent (99-80%) HP:0010655

MGI Mouse Phenotypes related to Generalized Resistance to Thyroid Hormone:

46
# 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):

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Triac Trial in MCT8 Patients Active, not recruiting 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

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:

41
Thyroid

Publications for Generalized Resistance to Thyroid Hormone

Articles related to Generalized Resistance to Thyroid Hormone:

(show all 30)
# 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
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
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
Generalized resistance to thyroid hormone associated with possible selective cardiac nonresistance. ( 11141590 )
2000
5
Inappropriate thyroid gland ablation in patients with generalized resistance to thyroid hormone. A common sequela of a rare disorder. ( 8526688 )
1996
6
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
7
Thyroid hormone receptor-beta mutants associated with generalized resistance to thyroid hormone show defects in their ligand-sensitive repression function. ( 8584031 )
1995
8
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
9
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
10
Attention deficit-hyperactivity disorder in people with generalized resistance to thyroid hormone. ( 8450877 )
1993
11
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
12
Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone. ( 8486789 )
1993
13
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
14
Autoimmune hypothyroidism in a patient with generalized resistance to thyroid hormone. ( 8272919 )
1993
15
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
16
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. ( 1314846 )
1992
17
New insights on the mechanism(s) of the dominant negative effect of mutant thyroid hormone receptor in generalized resistance to thyroid hormone. ( 1430208 )
1992
18
Generalized resistance to thyroid hormone (GRTH) in a family: case studies. ( 1294371 )
1992
19
Transcriptional activity of a mutant thyroid hormone receptor beta in a family with generalized resistance to thyroid hormone. ( 1301392 )
1992
20
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
21
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
22
A point mutation of the T3 receptor beta 1 gene in a kindred of generalized resistance to thyroid hormone. ( 1587388 )
1992
23
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
24
Homozygosity for a dominant negative thyroid hormone receptor gene responsible for generalized resistance to thyroid hormone. ( 1682340 )
1991
25
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
26
Neonatal detection of generalized resistance to thyroid hormone. ( 2120481 )
1990
27
Dominant negative transcriptional regulation by a mutant thyroid hormone receptor-beta in a family with generalized resistance to thyroid hormone. ( 2082193 )
1990
28
The syndrome of generalized resistance to thyroid hormone (GRTH). ( 2699456 )
1989
29
Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta. ( 2510172 )
1989
30
Use of bromocriptine in a patient with generalized resistance to thyroid hormone. ( 6699135 )
1984

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 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

Sources for Generalized Resistance to Thyroid Hormone

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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