MCID: THY039
MIFTS: 28

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 56 13 71
Hypothalamic Hypothyroidism 56 29 71
Isolated Thyroliberin Deficiency 58 71
Isolated Thyrotropin-Releasing Hormone Deficiency 58
Isolated Thyrotropin-Releasing Factor Deficiency 58
Hormone Deficiency, Thyrotropin-Releasing 39
Isolated Tsh-Releasing Factor Deficiency 58
Isolated Prothyroliberin Deficiency 58
Isolated Protirelin Deficiency 58
Isolated Trf Deficiency 58
Isolated Trh Deficiency 58
Trh Deficiency 56

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
thyrotropin-releasing hormone deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

OMIM 56 275120
ICD10 via Orphanet 33 E03.1
Orphanet 58 ORPHA238670
MedGen 41 C3887992
UMLS 71 C0220998 C0271585 C3887992

Summaries for Thyrotropin-Releasing Hormone Deficiency

MalaCards based summary : Thyrotropin-Releasing Hormone Deficiency, also known as hypothalamic hypothyroidism, is related to leptin deficiency or dysfunction and 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 constipation

More information 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 42)
# Related Disease Score Top Affiliating Genes
1 leptin deficiency or dysfunction 11.3
2 hypothyroidism 10.3
3 diabetes insipidus 10.1
4 ocular motor apraxia 10.0
5 hyperprolactinemia 10.0
6 hypogonadism 10.0
7 hypogonadotropism 10.0
8 secondary adrenal insufficiency 10.0
9 amyotrophic lateral sclerosis 1 9.8
10 medulloblastoma 9.8
11 meningoencephalitis 9.8
12 amenorrhea 9.8
13 lateral sclerosis 9.8
14 acromegaly 9.8
15 adenoma 9.8
16 cataract 9.8
17 central congenital hypothyroidism 9.8
18 galactorrhea 9.8
19 hypothyroidism, congenital, nongoitrous, 4 9.8
20 ataxia and polyneuropathy, adult-onset 9.8
21 aceruloplasminemia 9.8
22 anorexia nervosa 9.8
23 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
24 carbonic anhydrase va deficiency, hyperammonemia due to 9.8
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
26 autosomal recessive disease 9.8
27 hypogonadotropic hypogonadism 9.8
28 sensorineural hearing loss 9.8
29 hemosiderosis 9.8
30 goiter 9.8
31 endemic goiter 9.8
32 hepatic encephalopathy 9.8
33 hypothalamic disease 9.8
34 paraplegia 9.8
35 retinal degeneration 9.8
36 diabetes mellitus 9.8
37 acute myocardial infarction 9.8
38 hypoglycemia 9.8
39 shapiro syndrome 9.8
40 encephalopathy 9.8
41 head injury 9.8
42 rare hereditary hemochromatosis 9.8

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:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 constipation 31 HP:0002019
3 muscle weakness 31 HP:0001324
4 delayed skeletal maturation 31 HP:0002750
5 short stature 31 HP:0004322
6 dry skin 31 HP:0000958
7 hoarse voice 31 HP:0001609
8 hypothalamic hypothyroidism 31 HP:0008237

Symptoms via clinical synopsis from OMIM:

56
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 29 TRH

Anatomical Context for Thyrotropin-Releasing Hormone Deficiency

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

40
Thyroid, Pituitary, Skin, T Cells, Testes, Brain, Bone

Publications for Thyrotropin-Releasing Hormone Deficiency

Articles related to Thyrotropin-Releasing Hormone Deficiency:

(show top 50) (show all 86)
# Title Authors PMID Year
1
Central hypothyroidism: isolated thyrotropin-releasing hormone deficiency or resistance of pituitary thyrotropes? 61 56
3938792 1985
2
Hypothalamic hypothyroidism due to isolated thyrotropin-releasing hormone (TRH) deficiency. 61 56
6432893 1984
3
Congenital isolated thyrotrophin releasing hormone deficiency. 56
6816148 1982
4
Enzymatic synthesis of thyrotropin releasing hormone (TRH) by hypothalamic "TRH synthetase". 56
4627366 1972
5
Effects of growth hormone treatment on thyroid function in pediatric patients with Prader-Willi syndrome. 61
32011826 2020
6
Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density. 61
26925581 2016
7
Necdin controls Foxo1 acetylation in hypothalamic arcuate neurons to modulate the thyroid axis. 61
22514318 2012
8
Central diabetes insipidus and hypothalamic hypothyroidism associated with aceruloplasminemia. 61
20686294 2010
9
Shapiro syndrome with hypothalamic hypothyroidism. 61
18641886 2008
10
Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes syndrome with hypothyroidism and focal segmental glomerulosclerosis in a paediatric patient. 61
17294289 2007
11
[Hypothalamic hypothyroidism]. 61
16776159 2006
12
Prolactin secretion in mice with thyrotropin-releasing hormone deficiency. 61
16484326 2006
13
Non-thyroidal illness syndrome is a manifestation of hypothalamic-pituitary dysfunction, and in view of current evidence, should be treated with appropriate replacement therapies. 61
16399020 2006
14
Hearing loss in congenital hypothalamic hypothyroidism: a wide therapeutic window. 61
12361870 2002
15
Transient hypothalamic hypothyroidism and diabetes insipidus after electrical injury. 61
11958249 2002
16
Thyrotropin dysregulation during a non-thyroidal illness: transient hypothalamic hypothyroidism? 61
11314747 2001
17
Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome. 61
10405448 1999
18
Frequent and frequently overlooked: treatment-induced endocrine dysfunction in adult long-term survivors of primary brain tumors. 61
9270585 1997
19
Prevalence of thyroid hormone abnormalities in elderly patients with symptoms of organic brain disease. 61
8959237 1996
20
Dynamic MRI in the congenital agenesis of the neural pituitary stalk syndrome: the role of the vascular pituitary stalk in predicting residual anterior pituitary function. 61
8949565 1996
21
Thyrotropin with decreased biological activity, a delayed consequence of cranial irradiation for nasopharyngeal carcinoma. 61
8787958 1995
22
Thyroid abnormalities after therapeutic external radiation. 61
7713780 1995
23
Variable biological activity of thyroid-stimulating hormone. 61
7921220 1994
24
Portal-systemic encephalopathy and hypothalamic hypothyroidism: effect of thyroid hormone on ammonia metabolism. 61
8312666 1993
25
[Molecular pathology of congenital pituitary hypothyroidism--discovery of new clinical entities]. 61
8350517 1993
26
Thyroxine treatment increases circulating levels of insulin-like growth factor binding protein-1: a placebo-controlled study. 61
7687206 1993
27
[Hypothalamic hypothyroidism]. 61
7757583 1993
28
Failure of bilateral paraventricular nuclear lesions to cause hypothalamic hypothyroidism in fetal sheep. 61
8419135 1993
29
Hallermann-Streiff syndrome with hypopituitarism contributing to growth failure. 61
1776645 1991
30
Altered thyrotropin (TSH) carbohydrate structures in hypothalamic hypothyroidism created by paraventricular nuclear lesions are corrected by in vivo TSH-releasing hormone administration. 61
2507289 1989
31
[The empty sella syndrome. Clinical, radiological and endocrinologic analysis in 20 cases]. 61
2659952 1989
32
Excessive growth in a child with craniopharyngioma and growth hormone deficiency. 61
3181208 1988
33
Sympathetic stimulation and hypertension in the pyridoxine-deficient adult rat. 61
3356457 1988
34
Thyroid function in severely traumatized patients with or without head injury. 61
3132788 1988
35
Effect of a recombinant human growth hormone preparation on the urinary 15nitrogen balance in growth-hormone-deficient children. 61
3220455 1988
36
Hypothalamic hypothyroidism caused by lesions in rat paraventricular nuclei alters the carbohydrate structure of secreted thyrotropin. 61
3335209 1988
37
Secretion of thyrotropin with reduced concanavalin-A-binding activity in patients with severe nonthyroid illness. 61
3667887 1987
38
[Juvenile diabetes mellitus associated with hypothalamic hypothyroidism]. 61
3428754 1987
39
Primary idiopathic hypothalamic hypothyroidism. Report of four cases. 61
3111258 1987
40
Hypothalamic hypothyroidism with end-organ resistance--further personal observations. 61
3642195 1986
41
Long-term endocrine sequelae after treatment of medulloblastoma: prospective study of growth and thyroid function. 61
3944706 1986
42
Hypothalamic-pituitary-thyroidal dysfunctions in anorexia nervosa. 61
3114819 1986
43
Neuroendocrine study of a male infant with septo-optic dysplasia. 61
3877029 1985
44
Decreased receptor binding of biologically inactive thyrotropin in central hypothyroidism. Effect of treatment with thyrotropin-releasing hormone. 61
2984564 1985
45
The endocrine spectrum of septo-optic dysplasia. 61
6488662 1984
46
Pseudotumor cerebri following treatment of hypothalamic and primary hypothyroidism. 61
6475854 1984
47
A boy with congenital hypothalamic hypothyroidism. 61
6496170 1984
48
Increased sensitivity of the thyrotroph to thyrotropin-releasing hormones in rats with hypothalamic hypothyroidism. 61
6418526 1984
49
[Usefulness of the TRH-T3 test in the diagnosis of central hypothyroidism]. 61
6420209 1983
50
Chronic hypernatremia from a congenital defect in osmoregulation of thirst and vasopressin. 61
6188820 1983

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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