MCID: THY039
MIFTS: 31

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 58 13 74
Hypothalamic Hypothyroidism 58 30 74
Isolated Thyroliberin Deficiency 60 74
Isolated Thyrotropin-Releasing Hormone Deficiency 60
Isolated Thyrotropin-Releasing Factor Deficiency 60
Hormone Deficiency, Thyrotropin-Releasing 41
Isolated Tsh-Releasing Factor Deficiency 60
Isolated Prothyroliberin Deficiency 60
Isolated Protirelin Deficiency 60
Thyrotropin-Releasing Hormone 13
Isolated Trf Deficiency 60
Isolated Trh Deficiency 60
Trh Deficiency 58

Characteristics:

Orphanet epidemiological data:

60

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
thyrotropin-releasing hormone deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
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 thyroid, pituitary and skin, and related phenotypes are intellectual disability and muscle weakness

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 top 50) (show all 131)
# Related Disease Score Top Affiliating Genes
1 resistance to thyrotropin-releasing hormone syndrome 12.6
2 central congenital hypothyroidism 11.7
3 obesity due to congenital leptin deficiency 11.2
4 rheumatoid arthritis 10.7
5 pancreatic ductal adenocarcinoma 10.7
6 acromegaly 10.7
7 depression 10.7
8 endogenous depression 10.5
9 adenoma 10.5
10 spinocerebellar degeneration 10.4
11 hyperprolactinemia 10.4
12 pituitary adenoma 10.4
13 graves disease 1 10.3
14 pituitary tumors 10.3
15 alcohol dependence 10.3
16 spinal muscular atrophy 10.3
17 hypogonadotropic hypogonadism 10.3
18 muscular atrophy 10.3
19 thyroid carcinoma, familial medullary 10.2
20 major depressive disorder 10.2
21 diabetes mellitus 10.2
22 spinal cord injury 10.2
23 congenital hypothyroidism 10.2
24 graves' disease 10.2
25 mental depression 10.2
26 duodenal ulcer 10.2
27 thyroid cancer 10.2
28 empty sella syndrome 10.2
29 amyotrophic lateral sclerosis 1 10.1
30 smith-magenis syndrome 10.1
31 motor neuron disease 10.1
32 diphtheria 10.1
33 dementia 10.1
34 lateral sclerosis 10.1
35 breast disease 10.1
36 panic disorder 10.1
37 cerebrovascular disease 10.1
38 thyroiditis 10.1
39 hyperthyroidism 10.1
40 narcolepsy 10.1
41 encephalitis 10.1
42 spinal shock 10.1
43 myoclonus 10.1
44 hypothyroidism 10.0
45 achondroplasia 10.0
46 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.0
47 diaphragmatic hernia, congenital 10.0
48 hypertension, essential 10.0
49 hypogonadotropic hypogonadism 7 with or without anosmia 10.0
50 multiple system atrophy 1 10.0

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

Human phenotypes related to Thyrotropin-Releasing Hormone Deficiency:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 muscle weakness 33 HP:0001324
3 constipation 33 HP:0002019
4 delayed skeletal maturation 33 HP:0002750
5 short stature 33 HP:0004322
6 dry skin 33 HP:0000958
7 hoarse voice 33 HP:0001609
8 hypothalamic hypothyroidism 33 HP:0008237

Symptoms via clinical synopsis from OMIM:

58
G I:
constipation

Growth:
short stature

Endocrine:
hypothalamic hypothyroidism

Neuro:
mental retardation

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

Skel:
delayed skeletal maturation

Skin:
dry skin

Misc:
weakness

Voice:
husky voice

Clinical features from OMIM:

275120

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 30 TRH

Anatomical Context for Thyrotropin-Releasing Hormone Deficiency

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

42
Thyroid, Pituitary, Skin, Spinal Cord, Pancreas

Publications for Thyrotropin-Releasing Hormone Deficiency

Articles related to Thyrotropin-Releasing Hormone Deficiency:

(show all 34)
# Title Authors Year
1
Central diabetes insipidus and hypothalamic hypothyroidism associated with aceruloplasminemia. ( 20686294 )
2010
2
Shapiro syndrome with hypothalamic hypothyroidism. ( 18641886 )
2008
3
Prolactin secretion in mice with thyrotropin-releasing hormone deficiency. ( 16484326 )
2006
4
Transient hypothalamic hypothyroidism and diabetes insipidus after electrical injury. ( 11958249 )
2002
5
Hearing loss in congenital hypothalamic hypothyroidism: a wide therapeutic window. ( 12361870 )
2002
6
Thyrotropin dysregulation during a non-thyroidal illness: transient hypothalamic hypothyroidism? ( 11314747 )
2001
7
Portal-systemic encephalopathy and hypothalamic hypothyroidism: effect of thyroid hormone on ammonia metabolism. ( 8312666 )
1993
8
Failure of bilateral paraventricular nuclear lesions to cause hypothalamic hypothyroidism in fetal sheep. ( 8419135 )
1993
9
Altered thyrotropin (TSH) carbohydrate structures in hypothalamic hypothyroidism created by paraventricular nuclear lesions are corrected by in vivo TSH-releasing hormone administration. ( 2507289 )
1989
10
Hypothalamic hypothyroidism caused by lesions in rat paraventricular nuclei alters the carbohydrate structure of secreted thyrotropin. ( 3335209 )
1988
11
Primary idiopathic hypothalamic hypothyroidism. Report of four cases. ( 3111258 )
1987
12
Hypothalamic hypothyroidism with end-organ resistance--further personal observations. ( 3642195 )
1986
13
Central hypothyroidism: isolated thyrotropin-releasing hormone deficiency or resistance of pituitary thyrotropes? ( 3938792 )
1985
14
Increased sensitivity of the thyrotroph to thyrotropin-releasing hormones in rats with hypothalamic hypothyroidism. ( 6418526 )
1984
15
Hypothalamic hypothyroidism due to isolated thyrotropin-releasing hormone (TRH) deficiency. ( 6432893 )
1984
16
A boy with congenital hypothalamic hypothyroidism. ( 6496170 )
1984
17
Amenorrhea-galactorrhea associated with hypothalamic hypothyroidism. ( 7193973 )
1981
18
A case of idiopathic hypothalamic hypothyroidism. ( 6803047 )
1981
19
Primary hypothyroidism misdiagnosed as combined hypothalamic hypothyroidism and secondary adrenal insufficiency. ( 7362403 )
1980
20
Adolescent secondary amenorrhea: association with hypothalamic hypothyroidism. ( 762630 )
1979
21
Combined hypothalamic hypothyroidism and secondary adrenal insufficiency. Misdiagnosed as primary hypothyroidism. ( 104680 )
1979
22
Hypothalamic hypothyroidism and hypogonadism in prolonged traumatic coma. ( 213540 )
1978
23
Hypothalamic hypothyroidism causing spastic paraplegia: recovery following thyroid medication. ( 727728 )
1978
24
Plasma prolactin and thyrotropin and the response to thyrotropin-releasing factor in children with primary and hypothalamic hypothyroidism. ( 122418 )
1978
25
Hypothalamic hypothyroidism and XXY/XY sex chromosome mosaicism. Report of a case. ( 16535809 )
1976
26
Proceedings: Chronic oral administration of thyrotrophin releasing hormone in the treatment of hypothalamic hypothyroidism. ( 812937 )
1975
27
Hypothalamic-hypothyroidism secondary to Sheehan's syndrome. ( 4839489 )
1974
28
Hypothalamic hypothyroidism: diminished thyroidal response to thyrotropin-releasing hormone. ( 4196283 )
1973
29
Serum thyrotropin (TSH) in pituitary and-or hypothalamic hypothyroidism: normal or elevated basal levels and paradoxical responses to thyrotropin-releasing hormone. ( 4352630 )
1973
30
Hypothalamic hypothyroidism. ( 18731015 )
1973
31
Hypothalamic hypothyroidism: its possible relationshp to endemic goiter. ( 4196885 )
1972
32
Hypothalamic hypothyroidism. ( 4109777 )
1972
33
Hypothalamic hypothyroidism. ( 4627559 )
1972
34
Hypothalamic hypothyroidism. ( 4998943 )
1971

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....