MCID: THY069
MIFTS: 22

Thyroid Hormone Resistance, Selective Pituitary

Categories: Genetic diseases, Endocrine 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 57 29 13 6 40 73
Prth 57 59 75
Hyperthyroidism, Familial, Due to Inappropriate Thyrotropin Secretion 57
Familial Hyperthyroidism Due to Inappropriate Thyrotropin Secretion 75
Selective Pituitary Resistance to Thyroid Hormone 59
Selective Pituitary Thyroid Hormone Resistance 75
Pituitary Resistance to Thyroid Hormone 59

Characteristics:

Orphanet epidemiological data:

59
pituitary resistance to thyroid hormone
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
thyroid hormone resistance, selective pituitary:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

OMIM 57 145650
Orphanet 59 ORPHA165994
UMLS via Orphanet 74 C1840364
ICD10 via Orphanet 34 E05.8
MedGen 42 C1840364
UMLS 73 C1840364

Summaries for Thyroid Hormone Resistance, Selective Pituitary

UniProtKB/Swiss-Prot : 75 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 thyroiditis and periodontitis. 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 thyroiditis 10.2
2 periodontitis 9.9
3 thyroid hormone resistance, generalized, autosomal dominant 9.9

Symptoms & Phenotypes for Thyroid Hormone Resistance, Selective Pituitary

Symptoms via clinical synopsis from OMIM:

57
Endocrine:
hyperthyroidism
selective pituitary insensitivity to thyroid hormone

Lab:
increased pituitary thyroid-stimulating hormone (tsh)


Clinical features from OMIM:

145650

Human phenotypes related to Thyroid Hormone Resistance, Selective Pituitary:

32
# Description HPO Frequency HPO Source Accession
1 hyperthyroidism 32 HP:0000836
2 increased thyroid-stimulating hormone level 32 HP:0002925
3 thyroid hormone receptor defect 32 HP:0002930

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 29 THRB

Anatomical Context for Thyroid Hormone Resistance, Selective Pituitary

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

41
Thyroid, Pituitary

Publications for Thyroid Hormone Resistance, Selective Pituitary

Articles related to Thyroid Hormone Resistance, Selective Pituitary:

# Title Authors Year
1
[Therapeutic possibilities in patients with selective pituitary resistance to thyroid hormones]. ( 18373914 )
2008
2
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:

75
# 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

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
Content
Loading form....