MCID: THY039
MIFTS: 37

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 thyroid, lung and pituitary, 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 103)
# Related Disease Score Top Affiliating Genes
1 resistance to thyrotropin-releasing hormone syndrome 12.5
2 central congenital hypothyroidism 11.7
3 obesity due to congenital leptin deficiency 11.2
4 depression 10.6
5 rheumatoid arthritis 10.6
6 pancreatic ductal adenocarcinoma 10.6
7 acromegaly 10.5
8 endogenous depression 10.5
9 spinocerebellar degeneration 10.4
10 adenoma 10.3
11 pituitary tumors 10.3
12 hypogonadotropic hypogonadism 10.3
13 major depressive disorder 10.2
14 hyperprolactinemia 10.2
15 mental depression 10.2
16 duodenal ulcer 10.2
17 empty sella syndrome 10.2
18 thyroid carcinoma, familial medullary 10.1
19 diabetes mellitus 10.1
20 spinal cord injury 10.1
21 spinal muscular atrophy 10.1
22 congenital hypothyroidism 10.1
23 dementia 10.1
24 breast disease 10.1
25 muscular atrophy 10.1
26 neonatal hypothyroidism 10.1
27 spinal shock 10.1
28 hypothyroidism 10.0
29 achondroplasia 10.0
30 amyotrophic lateral sclerosis 1 10.0
31 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.0
32 diaphragmatic hernia, congenital 10.0
33 hypertension, essential 10.0
34 hypogonadotropic hypogonadism 7 with or without anosmia 10.0
35 multiple system atrophy 1 10.0
36 parkinson disease, late-onset 10.0
37 ring dermoid of cornea 10.0
38 schizophrenia 10.0
39 pancreatic agenesis 1 10.0
40 insulin-like growth factor i 10.0
41 aging 10.0
42 anorexia nervosa 10.0
43 muscle hypertrophy 10.0
44 west syndrome 10.0
45 alcoholic liver cirrhosis 10.0
46 systemic mastocytosis 10.0
47 zollinger-ellison syndrome 10.0
48 ileitis 10.0
49 pituitary apoplexy 10.0
50 pulmonary edema 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

Symptoms via clinical synopsis from OMIM:

57
G I:
constipation

Growth:
short stature

Endocrine:
hypothalamic hypothyroidism

Misc:
weakness

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

Skel:
delayed skeletal maturation

Skin:
dry skin

Neuro:
mental retardation

Voice:
husky voice


Clinical features from OMIM:

275120

Human phenotypes related to Thyrotropin-Releasing Hormone Deficiency:

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

Publications for Thyrotropin-Releasing Hormone Deficiency

Articles related to Thyrotropin-Releasing Hormone Deficiency:

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