RTH
MCID: SYN171
MIFTS: 11

Syndromes of Reduced Sensitivity to Thyroid Hormone (RTH)

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Syndromes of Reduced Sensitivity to Thyroid Hormone

MalaCards integrated aliases for Syndromes of Reduced Sensitivity to Thyroid Hormone:

Name: Syndromes of Reduced Sensitivity to Thyroid Hormone 58
Rth 58

Classifications:



External Ids:

Orphanet 58 ORPHA596426

Summaries for Syndromes of Reduced Sensitivity to Thyroid Hormone

MalaCards based summary : Syndromes of Reduced Sensitivity to Thyroid Hormone, also known as rth, is related to allan-herndon-dudley syndrome and congenital hypothyroidism. An important gene associated with Syndromes of Reduced Sensitivity to Thyroid Hormone is SECISBP2 (SECIS Binding Protein 2). Affiliated tissues include thyroid.

Related Diseases for Syndromes of Reduced Sensitivity to Thyroid Hormone

Diseases related to Syndromes of Reduced Sensitivity to Thyroid Hormone via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 allan-herndon-dudley syndrome 29.7 THRA SECISBP2
2 congenital hypothyroidism 10.2
3 hypothyroidism 10.2
4 constipation 10.2
5 goiter 10.0
6 attention deficit-hyperactivity disorder 9.9
7 thyroid hormone resistance, selective pituitary 9.9
8 thyroid hormone resistance, generalized, autosomal dominant 9.9
9 graves disease 1 9.9
10 arts syndrome 9.9
11 repressor of telomerase expression 1 9.9
12 penile cancer 9.9
13 graves' disease 9.9
14 von willebrand's disease 9.9
15 mood disorder 9.9
16 hepatoblastoma 9.9
17 learning disability 9.9
18 malignant tumor of penis 9.9

Graphical network of the top 20 diseases related to Syndromes of Reduced Sensitivity to Thyroid Hormone:



Diseases related to Syndromes of Reduced Sensitivity to Thyroid Hormone

Symptoms & Phenotypes for Syndromes of Reduced Sensitivity to Thyroid Hormone

Drugs & Therapeutics for Syndromes of Reduced Sensitivity to Thyroid Hormone

Search Clinical Trials , NIH Clinical Center for Syndromes of Reduced Sensitivity to Thyroid Hormone

Genetic Tests for Syndromes of Reduced Sensitivity to Thyroid Hormone

Anatomical Context for Syndromes of Reduced Sensitivity to Thyroid Hormone

MalaCards organs/tissues related to Syndromes of Reduced Sensitivity to Thyroid Hormone:

40
Thyroid

Publications for Syndromes of Reduced Sensitivity to Thyroid Hormone

Articles related to Syndromes of Reduced Sensitivity to Thyroid Hormone:

# Title Authors PMID Year
1
Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes. 61
30497070 2018
2
TRĪ± receptor mutations extend the spectrum of syndromes of reduced sensitivity to thyroid hormone. 61
26585273 2015
3
Resistance to thyroid hormone. 61
25231448 2014
4
The syndromes of reduced sensitivity to thyroid hormone. 61
22986150 2013
5
Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. 61
17574009 2007

Variations for Syndromes of Reduced Sensitivity to Thyroid Hormone

Expression for Syndromes of Reduced Sensitivity to Thyroid Hormone

Search GEO for disease gene expression data for Syndromes of Reduced Sensitivity to Thyroid Hormone.

Pathways for Syndromes of Reduced Sensitivity to Thyroid Hormone

GO Terms for Syndromes of Reduced Sensitivity to Thyroid Hormone

Sources for Syndromes of Reduced Sensitivity to Thyroid Hormone

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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