MCID: PRP074
MIFTS: 20

Peripheral Resistance to Thyroid Hormones

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Peripheral Resistance to Thyroid Hormones

MalaCards integrated aliases for Peripheral Resistance to Thyroid Hormones:

Name: Peripheral Resistance to Thyroid Hormones 52
Obsolete: Peripheral Resistance to Thyroid Hormones 52 58

Characteristics:

Orphanet epidemiological data:

58
obsolete: peripheral resistance to thyroid hormones
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Peripheral Resistance to Thyroid Hormones

MalaCards based summary : Peripheral Resistance to Thyroid Hormones, also known as obsolete: peripheral resistance to thyroid hormones, is related to thyroid hormone resistance, generalized, autosomal dominant and hyperthyroidism. Affiliated tissues include thyroid, testes and pituitary, and related phenotypes are sleep disturbance and constipation

Related Diseases for Peripheral Resistance to Thyroid Hormones

Diseases related to Peripheral Resistance to Thyroid Hormones via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 thyroid hormone resistance, generalized, autosomal dominant 11.9
2 hyperthyroidism 10.3
3 goiter 10.2
4 graves' disease 10.2
5 thyroid hormone resistance, generalized, autosomal recessive 10.1
6 hashimoto thyroiditis 9.9
7 paranoid schizophrenia 9.9
8 hypothyroidism 9.9
9 hyperthyroxinemia 9.9
10 mood disorder 9.9
11 thyroiditis 9.9
12 granulocytopenia 9.9

Graphical network of the top 20 diseases related to Peripheral Resistance to Thyroid Hormones:



Diseases related to Peripheral Resistance to Thyroid Hormones

Symptoms & Phenotypes for Peripheral Resistance to Thyroid Hormones

Human phenotypes related to Peripheral Resistance to Thyroid Hormones:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 sleep disturbance 31 hallmark (90%) HP:0002360
2 constipation 31 hallmark (90%) HP:0002019
3 hypothyroidism 31 hallmark (90%) HP:0000821
4 muscular hypotonia 31 hallmark (90%) HP:0001252
5 macroglossia 31 hallmark (90%) HP:0000158
6 coarse facial features 31 hallmark (90%) HP:0000280
7 umbilical hernia 31 hallmark (90%) HP:0001537
8 feeding difficulties 31 hallmark (90%) HP:0011968
9 jaundice 31 hallmark (90%) HP:0000952
10 large fontanelles 31 hallmark (90%) HP:0000239
11 abdominal distention 31 hallmark (90%) HP:0003270

Drugs & Therapeutics for Peripheral Resistance to Thyroid Hormones

Search Clinical Trials , NIH Clinical Center for Peripheral Resistance to Thyroid Hormones

Genetic Tests for Peripheral Resistance to Thyroid Hormones

Anatomical Context for Peripheral Resistance to Thyroid Hormones

MalaCards organs/tissues related to Peripheral Resistance to Thyroid Hormones:

40
Thyroid, Testes, Pituitary

Publications for Peripheral Resistance to Thyroid Hormones

Articles related to Peripheral Resistance to Thyroid Hormones:

(show all 22)
# Title Authors PMID Year
1
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA). 6
25670821 2015
2
Clinical phenotype and mutant TRα1. 6
22494134 2012
3
A mutation in the thyroid hormone receptor alpha gene. 6
22168587 2012
4
A Rare Case of Partial Peripheral Thyroid Hormone Resistance Due to a Point Mutation in the Membrane Integrin Α(V)Β(3) and Concomitant Hashimoto`s Thyroiditis. 61
31406543 2019
5
Thyroid hormones and the central nervous system of mammals (Review). 61
21479409 2008
6
[Hypothyroidism. Emphasis on clinical aspects or laboratory tests? Report about well known facts which, however, can be doubted]. 61
1998184 1991
7
Familial generalized resistance to thyroid hormones: report of three kindreds and correlation of patterns of affected tissues with the binding of [125I] triiodothyronine to fibroblast nuclei. 61
3571851 1986
8
[Hyperthyroxinemia without hyperthyroidism]. 61
3085279 1986
9
[Diagnosis of peripheral thyroid hormone effect using sex hormone-binding globulin (SHBG) and systolic time intervals (STI)]. 61
3766084 1986
10
Peripheral resistance to thyroid hormones. 61
3990382 1985
11
A new and distinctive albumin variant with increased affinities for both triiodothyronines and causing hyperthyroxinaemia. 61
3987070 1985
12
Familial euthyroid hyperthyroxinemia secondary to pituitary and peripheral resistance to thyroid hormones. 61
2981377 1985
13
Peripheral resistance to thyroid hormones. 61
6723083 1984
14
Partial peripheral resistance to thyroid hormones, a post-receptor defect? 61
6096250 1984
15
[Goiter in childhood]. 61
6689630 1983
16
Euthyroid hyperthyroxinemia. 61
6187257 1983
17
Defective thyroid hormone action in fibroblasts cultured from subjects with the syndrome of resistance to thyroid hormones. 61
7037814 1982
18
Triiodothyronine binding to lymphocyte nuclei and plasma cyclic AMP response to intravenous glucagon in patients with peripheral resistance to thyroid hormones. 61
6261508 1981
19
Peripheral insensitivity to thyroid hormones in a euthyroid girl with goitre. 61
6247978 1980
20
[Congenital goiter with partial peripheral resistance to thyroid hormones or pseudo-hyperthyroidism syndrome]. 61
503718 1979
21
Familial partial peripheral resistance to thyroid hormones. 61
75651 1978
22
Congenital euthyroid goitre and partial peripheral resistance to thyroid hormones. 61
4123403 1973

Variations for Peripheral Resistance to Thyroid Hormones

Expression for Peripheral Resistance to Thyroid Hormones

Search GEO for disease gene expression data for Peripheral Resistance to Thyroid Hormones.

Pathways for Peripheral Resistance to Thyroid Hormones

GO Terms for Peripheral Resistance to Thyroid Hormones

Sources for Peripheral Resistance to Thyroid Hormones

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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