MCID: PRP074
MIFTS: 16

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 49

Classifications:



Summaries for Peripheral Resistance to Thyroid Hormones

NIH Rare Diseases : 49 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 thyroid hormone resistance, generalized, autosomal dominant, and has symptoms including macroglossia, large fontanelles and coarse facial features. Affiliated tissues include thyroid and pituitary.

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:

# Related Disease Score Top Affiliating Genes
1 hypothyroidism, congenital, nongoitrous, 3 11.6
2 thyroid hormone resistance, generalized, autosomal dominant 11.3
3 hyperthyroxinemia 9.8
4 thyroiditis 9.8

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

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:

38
Thyroid, Pituitary

Publications for Peripheral Resistance to Thyroid Hormones

Articles related to Peripheral Resistance to Thyroid Hormones:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....