MCID: PRP074
MIFTS: 20

Peripheral Resistance to Thyroid Hormones

Categories: Rare diseases, Endocrine diseases

Aliases & Classifications for Peripheral Resistance to Thyroid Hormones

MalaCards integrated aliases for Peripheral Resistance to Thyroid Hormones:

Name: Peripheral Resistance to Thyroid Hormones 50

Classifications:



Summaries for Peripheral Resistance to Thyroid Hormones

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 97927disease definitionperipheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.epidemiologyprevalence is estimated to be 1/40,000.clinical descriptionthe majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia.etiologyin 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inheritedmutations in genes encoding for thyroid hormone receptor beta.visit the orphanet disease page for more resources. last updated: 8/8/2010

MalaCards based summary : Peripheral Resistance to Thyroid Hormones is related to hypothyroidism, congenital, nongoitrous, 3 and hyperthyroxinemia, and has symptoms including macroglossia, large fontanelles and coarse facial features. The drugs Hormones and insulin have been mentioned in the context of this disorder. Affiliated tissues include thyroid, bone and bone marrow.

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:

id Related Disease Score Top Affiliating Genes
1 hypothyroidism, congenital, nongoitrous, 3 11.2
2 hyperthyroxinemia 9.7
3 thyroiditis 9.7

Symptoms & Phenotypes for Peripheral Resistance to Thyroid Hormones

Human phenotypes related to Peripheral Resistance to Thyroid Hormones:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 macroglossia 32 hallmark (90%) HP:0000158
2 large fontanelles 32 hallmark (90%) HP:0000239
3 coarse facial features 32 hallmark (90%) HP:0000280
4 hypothyroidism 32 hallmark (90%) HP:0000821
5 jaundice 32 hallmark (90%) HP:0000952
6 muscular hypotonia 32 hallmark (90%) HP:0001252
7 umbilical hernia 32 hallmark (90%) HP:0001537
8 constipation 32 hallmark (90%) HP:0002019
9 sleep disturbance 32 hallmark (90%) HP:0002360
10 abdominal distention 32 hallmark (90%) HP:0003270
11 feeding difficulties 32 hallmark (90%) HP:0011968

Drugs & Therapeutics for Peripheral Resistance to Thyroid Hormones

Drugs for Peripheral Resistance to Thyroid Hormones (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 4,Phase 2
2 insulin Phase 4
3 Insulin, Globin Zinc Phase 4
4
Ephedrine Approved Phase 2 299-42-3 9294
5
Guaifenesin Approved, Vet_approved Phase 2 93-14-1 3516
6
Pseudoephedrine Approved Phase 2 90-82-4 7028
7 Adrenergic Agents Phase 2
8 Adrenergic Agonists Phase 2
9 Adrenergic alpha-Agonists Phase 2
10 Anti-Obesity Agents Phase 2
11 Appetite Depressants Phase 2
12 Autonomic Agents Phase 2
13
Chlorpheniramine Phase 2 113-92-8, 132-22-9 2725
14 Chlorpheniramine, phenylpropanolamine drug combination Phase 2
15 Expectorants Phase 2
16 Nasal Decongestants Phase 2
17 Neurotransmitter Agents Phase 2
18 Peripheral Nervous System Agents Phase 2
19 Respiratory System Agents Phase 2
20 Vasoconstrictor Agents Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Thyroid Study Type 2 Diabetes Mellitus (T2DM) Unknown status NCT01379170 Phase 4 Euthyrox (levothyroxine)
2 Triac Trial in MCT8 Patients Active, not recruiting NCT02060474 Phase 2 Triac
3 TSH Receptor Mutations Among a Consanguineous Community Completed NCT00747760
4 Metabolic Syndrome in Bone Marrow Transplant Survivors Terminated NCT00855244

Search 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:

39
Thyroid, Bone, Bone Marrow, Pituitary

Publications for Peripheral Resistance to Thyroid Hormones

Articles related to Peripheral Resistance to Thyroid Hormones:

id Title Authors Year
1
Familial euthyroid hyperthyroxinemia secondary to pituitary and peripheral resistance to thyroid hormones. ( 2981377 )
1985

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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