GTHRAR
MCID: THY114
MIFTS: 29

Thyroid Hormone Resistance, Generalized, Autosomal Recessive (GTHRAR)

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

Aliases & Classifications for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

MalaCards integrated aliases for Thyroid Hormone Resistance, Generalized, Autosomal Recessive:

Name: Thyroid Hormone Resistance, Generalized, Autosomal Recessive 57 29 6 40 73
Thyroid Hormone Resistance, Autosomal Recessive 57 13
Thyroid Hormone Resistance, Generalized, Autosomal Dominant 73
Generalized Thyroid Hormone Resistance Autosomal Recessive 75
Thyroid Hormone Resistance Syndrome 73
Thyroid Hormone Unresponsiveness 57
Refetoff Syndrome 57
Gthrar 75
Grth 57
Gthr 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
thyroid hormone resistance, generalized, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Generalized thyroid hormone resistance autosomal recessive: An autosomal recessive disorder characterized by goiter, clinical euthyroidism, end-organ unresponsiveness to thyroid hormone, abnormal growth and bone maturation, and deafness. Patients also have high levels of circulating thyroid hormones, with elevated thyroid stimulating hormone.

MalaCards based summary : Thyroid Hormone Resistance, Generalized, Autosomal Recessive, also known as thyroid hormone resistance, autosomal recessive, is related to thyroid hormone resistance, generalized, autosomal dominant and generalized resistance to thyroid hormone. An important gene associated with Thyroid Hormone Resistance, Generalized, Autosomal Recessive is THRB (Thyroid Hormone Receptor Beta). Affiliated tissues include thyroid, bone and pituitary, and related phenotypes are hearing impairment and epiphyseal stippling

Description from OMIM: 274300

Related Diseases for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

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 Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 thyroid hormone resistance, generalized, autosomal dominant 11.5
2 generalized resistance to thyroid hormone 11.5
3 thyroid hormone resistance, selective pituitary 11.1
4 atrial fibrillation 10.0
5 exophthalmos 9.9

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



Diseases related to Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Symptoms & Phenotypes for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Neck:
goiter

Ears:
congenital deafness

Endocrine:
end-organ unresponsiveness to thyroid hormone
thyroid hormone receptor-beta gene (thr1) deletion
clinical euthyroidism

Misc:
low birth weight for dates

Eyes:
exophthalmos

Skel:
stippled epiphyses

Lab:
abnormally high pbi
elevated blood thyroid hormones
elevated thyrotropin
normal response to thyrotropin-releasing hormone


Clinical features from OMIM:

274300

Human phenotypes related to Thyroid Hormone Resistance, Generalized, Autosomal Recessive:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 epiphyseal stippling 32 HP:0010655
3 goiter 32 HP:0000853
4 proptosis 32 HP:0000520
5 small for gestational age 32 HP:0001518
6 thyroid hormone receptor defect 32 HP:0002930

Drugs & Therapeutics for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Genetic Tests for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Genetic tests related to Thyroid Hormone Resistance, Generalized, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Thyroid Hormone Resistance, Generalized, Autosomal Recessive 29 THRB

Anatomical Context for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

MalaCards organs/tissues related to Thyroid Hormone Resistance, Generalized, Autosomal Recessive:

41
Thyroid, Bone, Pituitary

Publications for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

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

(show all 18)
# Title Authors Year
1
Thyroid hormone resistance syndrome - own experiences. ( 29574474 )
2017
2
Thyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor I^ gene: Report of one Chinese pedigree and review of the literature. ( 27537566 )
2016
3
Coexistence of thyroid hormone resistance syndrome, pituitary adenoma and Graves' disease. ( 26786783 )
2016
4
Description of the thyroid hormone resistance syndrome illustrated by such a case, which had two different carcinomas and was mistreated with iodine-131. ( 26637504 )
2015
5
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor I+ gene (THRA). ( 25670821 )
2015
6
A rare thyroid hormone receptor beta (THRbeta) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: a case report. ( 24393243 )
2014
7
Diabetes mellitus in a girl with thyroid hormone resistance syndrome: a little recognized interaction between the two diseases. ( 25402385 )
2014
8
Marked hyperthyroxinemia during amiodarone treatment revealing thyroid hormone resistance syndrome. ( 18724828 )
2008
9
A novel mutation of thyroid hormone receptor beta (I431V) impairs corepressor release, and induces thyroid hormone resistance syndrome. ( 19169485 )
2008
10
[Study on TR beta gene mutation in a thyroid hormone resistance syndrome family]. ( 16883531 )
2006
11
DNA-based diagnosis of thyroid hormone resistance syndrome: a novel THRB mutation associated with mild resistance to thyroid hormone. ( 15913586 )
2005
12
A case of familial euthyroid hyperthyroxinemia--thyroid hormone resistance syndrome? ( 10999134 )
1999
13
Thyroid hormone resistance syndrome manifests as an aberrant interaction between mutant T3 receptors and transcriptional corepressors. ( 9092799 )
1997
14
Spectrum of transcriptional, dimerization, and dominant negative properties of twenty different mutant thyroid hormone beta-receptors in thyroid hormone resistance syndrome. ( 7838159 )
1994
15
The variable clinical phenotype in thyroid hormone resistance syndrome. ( 7920008 )
1994
16
Thyroid hormone resistance syndrome: correlation of dominant negative activity and location of mutations. ( 8408475 )
1993
17
Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome. ( 1563081 )
1992
18
Thyroid hormone resistance syndrome. Inhibition of normal receptor function by mutant thyroid hormone receptors. ( 2040690 )
1991

Variations for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 THRB THRB, EX4-10DEL deletion Pathogenic
2 THRB NM_001128177.1(THRB): c.1010_1012delCAC (p.Thr337del) deletion Pathogenic rs387906515 GRCh38 Chromosome 3, 24127631: 24127633
3 THRB NM_001128177.1(THRB): c.1010_1012delCAC (p.Thr337del) deletion Pathogenic rs387906515 GRCh37 Chromosome 3, 24169122: 24169124
4 THRB NM_001128177.1(THRB): c.1373T> C (p.Val458Ala) single nucleotide variant Pathogenic rs121918704 GRCh37 Chromosome 3, 24164388: 24164388
5 THRB NM_001128177.1(THRB): c.1373T> C (p.Val458Ala) single nucleotide variant Pathogenic rs121918704 GRCh38 Chromosome 3, 24122897: 24122897

Expression for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Search GEO for disease gene expression data for Thyroid Hormone Resistance, Generalized, Autosomal Recessive.

Pathways for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

GO Terms for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Sources for Thyroid Hormone Resistance, Generalized, Autosomal Recessive

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62 PubMed
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69 SNOMED-CT via HPO
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71 TGDB
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73 UMLS
74 UMLS via Orphanet
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