MCID: RSS007
MIFTS: 14

Resistance to Thyrotropin-Releasing Hormone Syndrome

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Resistance to Thyrotropin-Releasing Hormone Syndrome

MalaCards integrated aliases for Resistance to Thyrotropin-Releasing Hormone Syndrome:

Name: Resistance to Thyrotropin-Releasing Hormone Syndrome 59
Central Hypothyroidism Due to Trh Receptor Deficiency 59
Trh Resistance Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
resistance to thyrotropin-releasing hormone syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Resistance to Thyrotropin-Releasing Hormone Syndrome

MalaCards based summary : Resistance to Thyrotropin-Releasing Hormone Syndrome, is also known as central hypothyroidism due to trh receptor deficiency. An important gene associated with Resistance to Thyrotropin-Releasing Hormone Syndrome is TRHR (Thyrotropin Releasing Hormone Receptor). Related phenotypes are hypothyroidism and constipation

Related Diseases for Resistance to Thyrotropin-Releasing Hormone Syndrome

Symptoms & Phenotypes for Resistance to Thyrotropin-Releasing Hormone Syndrome

Human phenotypes related to Resistance to Thyrotropin-Releasing Hormone Syndrome:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000821
2 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
3 sleep disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0002360
4 macroglossia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000158
5 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
6 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
7 umbilical hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001537
8 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
9 growth delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001510
10 prolonged neonatal jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0006579
11 generalized hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001290
12 large posterior fontanelle 59 32 hallmark (90%) Very frequent (99-80%) HP:0004491
13 muscular hypotonia 59 Very frequent (99-80%)
14 abnormality of the face 59 Very frequent (99-80%)
15 large fontanelles 59 Very frequent (99-80%)

Drugs & Therapeutics for Resistance to Thyrotropin-Releasing Hormone Syndrome

Search Clinical Trials , NIH Clinical Center for Resistance to Thyrotropin-Releasing Hormone Syndrome

Genetic Tests for Resistance to Thyrotropin-Releasing Hormone Syndrome

Anatomical Context for Resistance to Thyrotropin-Releasing Hormone Syndrome

Publications for Resistance to Thyrotropin-Releasing Hormone Syndrome

Variations for Resistance to Thyrotropin-Releasing Hormone Syndrome

Expression for Resistance to Thyrotropin-Releasing Hormone Syndrome

Search GEO for disease gene expression data for Resistance to Thyrotropin-Releasing Hormone Syndrome.

Pathways for Resistance to Thyrotropin-Releasing Hormone Syndrome

GO Terms for Resistance to Thyrotropin-Releasing Hormone Syndrome

Sources for Resistance to Thyrotropin-Releasing Hormone Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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45 MESH via Orphanet
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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
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