PRTH
MCID: THY069
MIFTS: 26

Thyroid Hormone Resistance, Selective Pituitary (PRTH)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Thyroid Hormone Resistance, Selective Pituitary

MalaCards integrated aliases for Thyroid Hormone Resistance, Selective Pituitary:

Name: Thyroid Hormone Resistance, Selective Pituitary 58 30 13 6 41 74
Prth 58 60 76
Hyperthyroidism, Familial, Due to Inappropriate Thyrotropin Secretion 58
Familial Hyperthyroidism Due to Inappropriate Thyrotropin Secretion 76
Selective Pituitary Resistance to Thyroid Hormone 60
Selective Pituitary Thyroid Hormone Resistance 76
Pituitary Resistance to Thyroid Hormone 60

Characteristics:

Orphanet epidemiological data:

60
pituitary resistance to thyroid hormone
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
thyroid hormone resistance, selective pituitary:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare endocrine diseases


External Ids:

OMIM 58 145650
ICD10 via Orphanet 35 E05.8
UMLS via Orphanet 75 C1840364
Orphanet 60 ORPHA165994
MedGen 43 C1840364
UMLS 74 C1840364

Summaries for Thyroid Hormone Resistance, Selective Pituitary

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Thyroid Hormone Resistance, Selective Pituitary, also known as prth, is related to periodontitis and hyperthyroidism. An important gene associated with Thyroid Hormone Resistance, Selective Pituitary is THRB (Thyroid Hormone Receptor Beta). Affiliated tissues include thyroid and pituitary, and related phenotypes are hyperthyroidism and increased thyroid-stimulating hormone level

Description from OMIM: 145650

Related Diseases for Thyroid Hormone Resistance, Selective Pituitary

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

# Related Disease Score Top Affiliating Genes
1 periodontitis 10.3
2 hyperthyroidism 10.3
3 thrombosis 10.1
4 periodontal disease 10.1
5 thyroid hormone resistance, generalized, autosomal dominant 10.0
6 graves disease 1 10.0
7 multinodular goiter 10.0
8 cystinosis 10.0
9 goiter 10.0

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:

33
# Description HPO Frequency HPO Source Accession
1 hyperthyroidism 33 HP:0000836
2 increased thyroid-stimulating hormone level 33 HP:0002925
3 thyroid hormone receptor defect 33 HP:0002930

Symptoms via clinical synopsis from OMIM:

58
Endocrine:
hyperthyroidism
selective pituitary insensitivity to thyroid hormone

Lab:
increased pituitary thyroid-stimulating hormone (tsh)

Clinical features from OMIM:

145650

Drugs & Therapeutics for Thyroid Hormone Resistance, Selective Pituitary

Search Clinical Trials , NIH Clinical Center for 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 30 THRB

Anatomical Context for Thyroid Hormone Resistance, Selective Pituitary

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

42
Thyroid, Pituitary

Publications for Thyroid Hormone Resistance, Selective Pituitary

Articles related to Thyroid Hormone Resistance, Selective Pituitary:

# Title Authors Year
1
Detection of Tannerella forsythia bspA and prtH genotypes among periodontitis patients and healthy subjects-A case-Control study. ( 30268559 )
2018
2
Simultaneous presence of PrtH and PrtH2 proteinases in Lactobacillus helveticus Strains improves breakdown of the pure alphas1-casein. ( 21037305 )
2011
3
Prediction of a caspase-like fold in Tannerella forsythia virulence factor PrtH. ( 19305154 )
2009
4
A 5-year longitudinal study of Tannerella forsythia prtH genotype: association with loss of attachment. ( 18166104 )
2008
5
prtH in Tannerella forsythensis is not associated with periodontitis. ( 16584338 )
2006
6
Bacteroides forsythus prtH genotype in periodontitis patients: occurrence and association with periodontal disease. ( 11762876 )
2001
7
G20210A PRTH gene mutation and other trombophilic polymorphisms in patients with cerebral vein thrombosis. ( 10884490 )
2000
8
Increased opsonization of a prtH-defective mutant of Porphyromonas gingivalis W83 is caused by reduced degradation of complement-derived opsonins. ( 7730636 )
1995
9
Cloning and characterization of a new protease gene (prtH) from Porphyromonas gingivalis. ( 7927685 )
1994
10
Selective pituitary resistance to thyroid hormone after treatment of a toxic multinodular goiter. ( 3420449 )
1988

Variations for Thyroid Hormone Resistance, Selective Pituitary

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

76
# Symbol AA change Variation ID SNP ID
1 THRB p.Arg316His VAR_004634 rs121918695
2 THRB p.Arg429Gln VAR_058508

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 THRB NM_001128177.1(THRB): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic rs121918695 GRCh37 Chromosome 3, 24169187: 24169187
2 THRB NM_001128177.1(THRB): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic rs121918695 GRCh38 Chromosome 3, 24127696: 24127696
3 THRB THRB, LEU325PHE undetermined variant Pathogenic
4 THRB NM_001252634.1(THRB): c.1012C> T (p.Arg338Trp) single nucleotide variant Pathogenic rs121918697 GRCh37 Chromosome 3, 24169122: 24169122
5 THRB NM_001252634.1(THRB): c.1012C> T (p.Arg338Trp) single nucleotide variant Pathogenic rs121918697 GRCh38 Chromosome 3, 24127631: 24127631
6 THRB NM_001128177.1(THRB): c.959G> T (p.Arg320Leu) single nucleotide variant Pathogenic rs121918693 GRCh37 Chromosome 3, 24169175: 24169175
7 THRB NM_001128177.1(THRB): c.959G> T (p.Arg320Leu) single nucleotide variant Pathogenic rs121918693 GRCh38 Chromosome 3, 24127684: 24127684
8 THRB NM_001128177.1(THRB): c.1009A> G (p.Thr337Ala) single nucleotide variant Pathogenic rs121918709 GRCh37 Chromosome 3, 24169125: 24169125
9 THRB NM_001128177.1(THRB): c.1009A> G (p.Thr337Ala) single nucleotide variant Pathogenic rs121918709 GRCh38 Chromosome 3, 24127634: 24127634
10 THRB THRB, 1-BP INS, 1590T insertion Pathogenic

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

GO Terms for Thyroid Hormone Resistance, Selective Pituitary

Sources for Thyroid Hormone Resistance, Selective Pituitary

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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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