PRTH
MCID: THY069
MIFTS: 36

Thyroid Hormone Resistance, Selective Pituitary (PRTH)

Categories: Endocrine diseases, Genetic diseases

Aliases & Classifications for Thyroid Hormone Resistance, Selective Pituitary

MalaCards integrated aliases for Thyroid Hormone Resistance, Selective Pituitary:

Name: Thyroid Hormone Resistance, Selective Pituitary 57 29 13 6 44 39 70
Selective Pituitary Thyroid Hormone Resistance 12 72 15
Prth 57 12 72
Familial Hyperthyroidism Due to Inappropriate Thyrotropin Secretion 12 72
Hyperthyroidism, Familial, Due to Inappropriate Thyrotropin Secretion 57
Selective Pituitary Resistance to Thyroid Hormone 12
Pituitary Resistance to Thyroid Hormone 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
thyroid hormone resistance, selective pituitary:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111374
OMIM® 57 145650
MeSH 44 C564154
MedGen 41 C1840364
UMLS 70 C1840364

Summaries for Thyroid Hormone Resistance, Selective Pituitary

OMIM® : 57 Selective pituitary resistance to thyroid hormone (PRTH) results in continued thyroid-stimulating hormone (TSH) production driving hypersecretion of T3 and T4 to establish a new equilibrium, with high serum levels of free thyroid hormones together with a nonsuppressed TSH. The presence of a variety of thyrotoxic features, including palpitations, anxiety, tremor, heat intolerance, insomnia, weight loss, and increased stool frequency, suggests that peripheral tissues are less refractory to thyroid hormones than the pituitary (summary by Adams et al., 1994). (145650) (Updated 05-Apr-2021)

MalaCards based summary : Thyroid Hormone Resistance, Selective Pituitary, also known as selective pituitary thyroid hormone resistance, is related to generalized resistance to thyroid hormone and hyperthyroxinemia. An important gene associated with Thyroid Hormone Resistance, Selective Pituitary is THRB (Thyroid Hormone Receptor Beta), and among its related pathways/superpathways is Transcription_Role of VDR in regulation of genes involved in osteoporosis. Affiliated tissues include thyroid and pituitary, and related phenotypes are hyperthyroidism and increased thyroid-stimulating hormone level

Disease Ontology : 12 A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has material basis in heterozygous mutation in THRB on chromosome 3p24.2.

UniProtKB/Swiss-Prot : 72 Selective pituitary thyroid hormone resistance: Variant form of thyroid hormone resistance and is characterized by clinical hyperthyroidism, with elevated free thyroid hormones, but inappropriately normal serum TSH. Unlike GRTH, where the syndrome usually segregates with a dominant allele, the mode of inheritance in PRTH has not been established.

Related Diseases for Thyroid Hormone Resistance, Selective Pituitary

Graphical network of the top 20 diseases related to Thyroid Hormone Resistance, Selective Pituitary:



Diseases related to Thyroid Hormone Resistance, Selective Pituitary

Symptoms & Phenotypes for Thyroid Hormone Resistance, Selective Pituitary

Human phenotypes related to Thyroid Hormone Resistance, Selective Pituitary:

31
# Description HPO Frequency HPO Source Accession
1 hyperthyroidism 31 HP:0000836
2 increased thyroid-stimulating hormone level 31 HP:0002925
3 impaired sensitivity to thyroid hormone 31 HP:0002930

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Endocrine:
hyperthyroidism
selective pituitary insensitivity to thyroid hormone

Lab:
increased pituitary thyroid-stimulating hormone (tsh)

Clinical features from OMIM®:

145650 (Updated 05-Apr-2021)

Drugs & Therapeutics for Thyroid Hormone Resistance, Selective Pituitary

Search Clinical Trials , NIH Clinical Center for Thyroid Hormone Resistance, Selective Pituitary

Cochrane evidence based reviews: thyroid hormone resistance, selective pituitary

Genetic Tests for Thyroid Hormone Resistance, Selective Pituitary

Genetic tests related to Thyroid Hormone Resistance, Selective Pituitary:

# Genetic test Affiliating Genes
1 Thyroid Hormone Resistance, Selective Pituitary 29 THRB

Anatomical Context for Thyroid Hormone Resistance, Selective Pituitary

MalaCards organs/tissues related to Thyroid Hormone Resistance, Selective Pituitary:

40
Thyroid, Pituitary

Publications for Thyroid Hormone Resistance, Selective Pituitary

Articles related to Thyroid Hormone Resistance, Selective Pituitary:

(show top 50) (show all 92)
# Title Authors PMID Year
1
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 57 61
8040303 1994
2
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 6 57
8496318 1993
3
An arginine to histidine mutation in codon 311 of the C-erbA beta gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype. 61 6 57
8381821 1993
4
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 57
8384535 1993
5
Thyrotropin-induced hyperthyroidism caused by selective pituitary resistance to thyroid hormone. A new syndrome of "inappropriate secretion of TSH". 6 57
1159077 1975
6
Prenatal diagnosis of thyroid hormone resistance. 61 6
10022392 1999
7
Bromocriptine and Triac therapy for hyperthyroidism due to pituitary resistance to thyroid hormone. 61 6
1400873 1992
8
Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone. 6
16804041 2006
9
A novel thyroid hormone receptor-beta mutation that fails to bind nuclear receptor corepressor in a patient as an apparent cause of severe, predominantly pituitary resistance to thyroid hormone. 6
16464943 2006
10
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. 6
8013151 1994
11
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
12
Hyperthyroidism due to familial pituitary resistance to thyroid hormone: successful control with 3, 5, 3' triiodothyroacetic associated to propranolol. 57
1774450 1991
13
Hyperthyroidism due to selective pituitary resistance to thyroid hormones in a 15-month-old boy: efficacy of D-thyroxine therapy. 57
3182960 1988
14
Hyperthyroidism caused by inappropriate thyrotropin hypersecretion: studies in patients with selective pituitary resistance to thyroid hormone. 57
7092445 1982
15
Familial hyperthyroidism due to inappropriate thyrotropin secretion successfully treated with triiodothyronine. 57
6798060 1982
16
Traumatic esophageal perforation in Puerto Rico Trauma Hospital: A case-series. 61
31316769 2019
17
A Comparative Analysis of the Injury Patterns and In-Hospital Mortality Rates of Belted and Unbelted Motor-Vehicle Occupants - Puerto Rico, January 2000 to December 2014. 61
30548057 2018
18
Detection of Tannerella forsythia bspA and prtH genotypes among periodontitis patients and healthy subjects-A case-Control study. 61
30268559 2018
19
Distribution of Cell Envelope Proteinases Genes among Polish Strains of Lactobacillus helveticus. 61
30015458 2018
20
Ectopic thyrotropin secreting pituitary adenoma concomitant with papillary thyroid carcinoma: Case report. 61
29390279 2017
21
Trauma Epidemiology of Women in Puerto Rico, 2002-2011. 61
28915305 2017
22
Unbiased pro-thrombotic features at diagnosis in 977 thrombocythemic patients with Philadelphia-negative chronic myeloproliferative neoplasms. 61
27107744 2016
23
Distinctive proteolytic activity of cell envelope proteinase of Lactobacillus helveticus isolated from airag, a traditional Mongolian fermented mare's milk. 61
25557185 2015
24
The naturally competent strain Streptococcus thermophilus LMD-9 as a new tool to anchor heterologous proteins on the cell surface. 61
24902482 2014
25
Single cell genomics of uncultured, health-associated Tannerella BU063 (Oral Taxon 286) and comparison to the closely related pathogen Tannerella forsythia. 61
24551246 2014
26
Proteolytic activity of probiotic strain Lactobacillus helveticus M92. 61
23454496 2013
27
Lactobacillus helveticus as a tool to change proteolysis and functionality in Swiss-type cheeses. 61
23357019 2013
28
Technological and probiotic potential of BGRA43 a natural isolate of Lactobacillus helveticus. 61
23346083 2013
29
Pituitary resistance to thyroid hormones: pathophysiology and therapeutic options. 61
21956518 2011
30
A mechanism for pituitary-resistance to thyroid hormone (PRTH) syndrome: a loss in cooperative coactivator contacts by thyroid hormone receptor (TR)beta2. 61
21622532 2011
31
Simultaneous presence of PrtH and PrtH2 proteinases in Lactobacillus helveticus Strains improves breakdown of the pure alphas1-casein. 61
21037305 2011
32
Mediterranean glucose-6-phosphate dehydrogenase (G6PD(C563T)) mutation among Jordanian females with acute hemolytic crisis. 61
21205543 2010
33
The presence of prtP proteinase gene in natural isolate Lactobacillus plantarum BGSJ3-18. 61
19843212 2010
34
9 years follow-up of a patient with pituitary form of resistance to thyroid hormones (PRTH): comparison of two treatment periods of D-thyroxine and triiodothyroacetic acid (TRIAC). 61
20020587 2009
35
Prediction of a caspase-like fold in Tannerella forsythia virulence factor PrtH. 61
19305154 2009
36
prtH2, not prtH, is the ubiquitous cell wall proteinase gene in Lactobacillus helveticus. 61
19286786 2009
37
A 5-year longitudinal study of Tannerella forsythia prtH genotype: association with loss of attachment. 61
18166104 2008
38
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
39
Tannerella forsythensis prtH genotype and association with periodontal status. 61
17274725 2007
40
Computational study of coagulation factor VIIa's affinity for phospholipid membranes. 61
17131117 2007
41
Isolation and identification of a cytopathic activity in Tannerella forsythia. 61
17054916 2006
42
Thyroid hormone resistance. 61
17132274 2006
43
prtH in Tannerella forsythensis is not associated with periodontitis. 61
16584338 2006
44
Analysis of the presence of prtR proteinase gene in natural isolates of Lactobacillus rhamnosus. 61
17455789 2006
45
Different responses to chronic somatostatin analogues in patients with central hyperthyroidism. 61
15670193 2005
46
Effects of human pharmaceuticals on cytotoxicity, EROD activity and ROS production in fish hepatocytes. 61
15036755 2004
47
A facile analytical method for the identification of protease gene profiles from Bacillus thuringiensis strains. 61
14706757 2004
48
Regulation of protein H expression in M1 serotype isolates of Streptococcus pyogenes. 61
12594016 2003
49
[Cloning and polymorphism analysis of prtH gene from Porphyromonas gingivalis]. 61
12760772 2003
50
Atrial fibrillation and mitral prolapse in a subject affected by Refetoff syndrome. 61
12032470 2002

Variations for Thyroid Hormone Resistance, Selective Pituitary

ClinVar genetic disease variations for Thyroid Hormone Resistance, Selective Pituitary:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 THRB NM_001354712.2(THRB):c.947G>A (p.Arg316His) SNV Pathogenic 12555 rs121918695 GRCh37: 3:24169187-24169187
GRCh38: 3:24127696-24127696
2 THRB NM_001354712.2(THRB):c.959G>T (p.Arg320Leu) SNV Pathogenic 12562 rs121918693 GRCh37: 3:24169175-24169175
GRCh38: 3:24127684-24127684
3 THRB L325F Variation Pathogenic 12556 GRCh37:
GRCh38:
4 THRB NM_001354712.2(THRB):c.1009A>G (p.Thr337Ala) SNV Pathogenic 12569 rs121918709 GRCh37: 3:24169125-24169125
GRCh38: 3:24127634-24127634
5 THRB THRB, 1-BP INS, 1590T Insertion Pathogenic 12571 GRCh37:
GRCh38:
6 THRB NM_001354712.2(THRB):c.1012C>T (p.Arg338Trp) SNV Pathogenic 12558 rs121918697 GRCh37: 3:24169122-24169122
GRCh38: 3:24127631-24127631

UniProtKB/Swiss-Prot genetic disease variations for Thyroid Hormone Resistance, Selective Pituitary:

72
# Symbol AA change Variation ID SNP ID
1 THRB p.Arg316His VAR_004634 rs121918695
2 THRB p.Arg429Gln VAR_058508 rs155360921

Expression for Thyroid Hormone Resistance, Selective Pituitary

Search GEO for disease gene expression data for Thyroid Hormone Resistance, Selective Pituitary.

Pathways for Thyroid Hormone Resistance, Selective Pituitary

Pathways related to Thyroid Hormone Resistance, Selective Pituitary according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.28 THRB THRA

GO Terms for Thyroid Hormone Resistance, Selective Pituitary

Biological processes related to Thyroid Hormone Resistance, Selective Pituitary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular receptor signaling pathway GO:0030522 9.4 THRB THRA
2 response to cold GO:0009409 9.37 TRH THRA
3 regulation of heart contraction GO:0008016 9.32 THRB THRA
4 type I pneumocyte differentiation GO:0060509 9.26 THRB THRA
5 thyroid hormone mediated signaling pathway GO:0002154 9.16 THRB THRA
6 female courtship behavior GO:0008050 8.96 THRB THRA
7 hormone-mediated signaling pathway GO:0009755 8.92 TSHB TRH THRB THRA

Molecular functions related to Thyroid Hormone Resistance, Selective Pituitary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear receptor activity GO:0004879 8.96 THRB THRA
2 thyroid hormone binding GO:0070324 8.62 THRB THRA

Sources for Thyroid Hormone Resistance, Selective Pituitary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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