MCID: THY039
MIFTS: 25

Thyrotropin-Releasing Hormone Deficiency

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Thyrotropin-Releasing Hormone Deficiency

MalaCards integrated aliases for Thyrotropin-Releasing Hormone Deficiency:

Name: Thyrotropin-Releasing Hormone Deficiency 57 13 73
Hypothalamic Hypothyroidism 57 29 73
Isolated Thyroliberin Deficiency 59 73
Isolated Thyrotropin-Releasing Hormone Deficiency 59
Isolated Thyrotropin-Releasing Factor Deficiency 59
Hormone Deficiency, Thyrotropin-Releasing 40
Isolated Tsh-Releasing Factor Deficiency 59
Isolated Prothyroliberin Deficiency 59
Isolated Protirelin Deficiency 59
Thyrotropin-Releasing Hormone 13
Isolated Trf Deficiency 59
Isolated Trh Deficiency 59
Trh Deficiency 57

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
thyrotropin-releasing hormone deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Thyrotropin-Releasing Hormone Deficiency

MalaCards based summary : Thyrotropin-Releasing Hormone Deficiency, also known as hypothalamic hypothyroidism, is related to resistance to thyrotropin-releasing hormone syndrome and central congenital hypothyroidism. An important gene associated with Thyrotropin-Releasing Hormone Deficiency is TRH (Thyrotropin Releasing Hormone). Affiliated tissues include skin and pituitary, and related phenotypes are dry skin and intellectual disability

Description from OMIM: 275120

Related Diseases for Thyrotropin-Releasing Hormone Deficiency

Diseases related to Thyrotropin-Releasing Hormone Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 resistance to thyrotropin-releasing hormone syndrome 12.4
2 central congenital hypothyroidism 11.5
3 obesity due to congenital leptin deficiency 11.0
4 thyroiditis 10.6
5 neuronitis 10.5
6 rheumatoid arthritis 10.5
7 pancreatic ductal adenocarcinoma 10.5
8 depression 10.5
9 acromegaly 10.4
10 adenoma 10.4
11 pituitary adenoma 10.3
12 endogenous depression 10.3
13 spinocerebellar degeneration 10.2
14 hypothyroidism 9.9

Graphical network of the top 20 diseases related to Thyrotropin-Releasing Hormone Deficiency:



Diseases related to Thyrotropin-Releasing Hormone Deficiency

Symptoms & Phenotypes for Thyrotropin-Releasing Hormone Deficiency

Symptoms via clinical synopsis from OMIM:

57
Endocrine:
hypothalamic hypothyroidism

Misc:
weakness

Neuro:
mental retardation

Voice:
husky voice

Lab:
thyrotropin-releasing hormone (trh) deficiency
low thyroxin

Growth:
short stature

GI:
constipation

Skin:
dry skin

Skel:
delayed skeletal maturation


Clinical features from OMIM:

275120

Human phenotypes related to Thyrotropin-Releasing Hormone Deficiency:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 dry skin 32 HP:0000958
2 intellectual disability 32 HP:0001249
3 muscle weakness 32 HP:0001324
4 hoarse voice 32 HP:0001609
5 constipation 32 HP:0002019
6 delayed skeletal maturation 32 HP:0002750
7 short stature 32 HP:0004322
8 hypothalamic hypothyroidism 32 HP:0008237

Drugs & Therapeutics for Thyrotropin-Releasing Hormone Deficiency

Search Clinical Trials , NIH Clinical Center for Thyrotropin-Releasing Hormone Deficiency

Genetic Tests for Thyrotropin-Releasing Hormone Deficiency

Genetic tests related to Thyrotropin-Releasing Hormone Deficiency:

# Genetic test Affiliating Genes
1 Hypothalamic Hypothyroidism 29 TRH

Anatomical Context for Thyrotropin-Releasing Hormone Deficiency

MalaCards organs/tissues related to Thyrotropin-Releasing Hormone Deficiency:

41
Skin, Pituitary

Publications for Thyrotropin-Releasing Hormone Deficiency

Articles related to Thyrotropin-Releasing Hormone Deficiency:

# Title Authors Year
1
Prolactin secretion in mice with thyrotropin-releasing hormone deficiency. ( 16484326 )
2006
2
Central hypothyroidism: isolated thyrotropin-releasing hormone deficiency or resistance of pituitary thyrotropes? ( 3938792 )
1985

Variations for Thyrotropin-Releasing Hormone Deficiency

Expression for Thyrotropin-Releasing Hormone Deficiency

Search GEO for disease gene expression data for Thyrotropin-Releasing Hormone Deficiency.

Pathways for Thyrotropin-Releasing Hormone Deficiency

GO Terms for Thyrotropin-Releasing Hormone Deficiency

Sources for Thyrotropin-Releasing Hormone Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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