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 57 13 72
Hypothalamic Hypothyroidism 57 29 72
Isolated Thyroliberin Deficiency 59 72
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
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


External Ids:

OMIM 57 275120
ICD10 via Orphanet 34 E03.1
Orphanet 59 ORPHA238670
MedGen 42 C3887992
UMLS 72 C0220998 C0271585 C3887992

Summaries for Thyrotropin-Releasing Hormone Deficiency

MalaCards based summary : Thyrotropin-Releasing Hormone Deficiency, also known as hypothalamic hypothyroidism, is related to obesity due to congenital leptin deficiency 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 muscle weakness

More information from OMIM: 275120

Related Diseases for Thyrotropin-Releasing Hormone Deficiency

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:

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

Symptoms via clinical synopsis from OMIM:

57
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:

41
Thyroid, Pituitary, Skin, Testes, Brain, Bone, Pineal

Publications for Thyrotropin-Releasing Hormone Deficiency

Articles related to Thyrotropin-Releasing Hormone Deficiency:

(show top 50) (show all 85)
# Title Authors PMID Year
1
Central hypothyroidism: isolated thyrotropin-releasing hormone deficiency or resistance of pituitary thyrotropes? 38 8
3938792 1985
2
Hypothalamic hypothyroidism due to isolated thyrotropin-releasing hormone (TRH) deficiency. 38 8
6432893 1984
3
Congenital isolated thyrotrophin releasing hormone deficiency. 8
6816148 1982
4
Enzymatic synthesis of thyrotropin releasing hormone (TRH) by hypothalamic "TRH synthetase". 8
4627366 1972
5
Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density. 38
26925581 2016
6
Necdin controls Foxo1 acetylation in hypothalamic arcuate neurons to modulate the thyroid axis. 38
22514318 2012
7
Central diabetes insipidus and hypothalamic hypothyroidism associated with aceruloplasminemia. 38
20686294 2010
8
Shapiro syndrome with hypothalamic hypothyroidism. 38
18641886 2008
9
Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes syndrome with hypothyroidism and focal segmental glomerulosclerosis in a paediatric patient. 38
17294289 2007
10
Prolactin secretion in mice with thyrotropin-releasing hormone deficiency. 38
16484326 2006
11
[Hypothalamic hypothyroidism]. 38
16776159 2006
12
Non-thyroidal illness syndrome is a manifestation of hypothalamic-pituitary dysfunction, and in view of current evidence, should be treated with appropriate replacement therapies. 38
16399020 2006
13
Hearing loss in congenital hypothalamic hypothyroidism: a wide therapeutic window. 38
12361870 2002
14
Transient hypothalamic hypothyroidism and diabetes insipidus after electrical injury. 38
11958249 2002
15
Thyrotropin dysregulation during a non-thyroidal illness: transient hypothalamic hypothyroidism? 38
11314747 2001
16
Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome. 38
10405448 1999
17
Frequent and frequently overlooked: treatment-induced endocrine dysfunction in adult long-term survivors of primary brain tumors. 38
9270585 1997
18
Prevalence of thyroid hormone abnormalities in elderly patients with symptoms of organic brain disease. 38
8959237 1996
19
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. 38
8949565 1996
20
Thyrotropin with decreased biological activity, a delayed consequence of cranial irradiation for nasopharyngeal carcinoma. 38
8787958 1995
21
Thyroid abnormalities after therapeutic external radiation. 38
7713780 1995
22
Variable biological activity of thyroid-stimulating hormone. 38
7921220 1994
23
Portal-systemic encephalopathy and hypothalamic hypothyroidism: effect of thyroid hormone on ammonia metabolism. 38
8312666 1993
24
Thyroxine treatment increases circulating levels of insulin-like growth factor binding protein-1: a placebo-controlled study. 38
7687206 1993
25
[Molecular pathology of congenital pituitary hypothyroidism--discovery of new clinical entities]. 38
8350517 1993
26
[Hypothalamic hypothyroidism]. 38
7757583 1993
27
Failure of bilateral paraventricular nuclear lesions to cause hypothalamic hypothyroidism in fetal sheep. 38
8419135 1993
28
Hallermann-Streiff syndrome with hypopituitarism contributing to growth failure. 38
1776645 1991
29
Altered thyrotropin (TSH) carbohydrate structures in hypothalamic hypothyroidism created by paraventricular nuclear lesions are corrected by in vivo TSH-releasing hormone administration. 38
2507289 1989
30
[The empty sella syndrome. Clinical, radiological and endocrinologic analysis in 20 cases]. 38
2659952 1989
31
Excessive growth in a child with craniopharyngioma and growth hormone deficiency. 38
3181208 1988
32
Sympathetic stimulation and hypertension in the pyridoxine-deficient adult rat. 38
3356457 1988
33
Thyroid function in severely traumatized patients with or without head injury. 38
3132788 1988
34
Hypothalamic hypothyroidism caused by lesions in rat paraventricular nuclei alters the carbohydrate structure of secreted thyrotropin. 38
3335209 1988
35
Effect of a recombinant human growth hormone preparation on the urinary 15nitrogen balance in growth-hormone-deficient children. 38
3220455 1988
36
Secretion of thyrotropin with reduced concanavalin-A-binding activity in patients with severe nonthyroid illness. 38
3667887 1987
37
[Juvenile diabetes mellitus associated with hypothalamic hypothyroidism]. 38
3428754 1987
38
Primary idiopathic hypothalamic hypothyroidism. Report of four cases. 38
3111258 1987
39
Hypothalamic hypothyroidism with end-organ resistance--further personal observations. 38
3642195 1986
40
Long-term endocrine sequelae after treatment of medulloblastoma: prospective study of growth and thyroid function. 38
3944706 1986
41
Hypothalamic-pituitary-thyroidal dysfunctions in anorexia nervosa. 38
3114819 1986
42
Neuroendocrine study of a male infant with septo-optic dysplasia. 38
3877029 1985
43
Decreased receptor binding of biologically inactive thyrotropin in central hypothyroidism. Effect of treatment with thyrotropin-releasing hormone. 38
2984564 1985
44
The endocrine spectrum of septo-optic dysplasia. 38
6488662 1984
45
Pseudotumor cerebri following treatment of hypothalamic and primary hypothyroidism. 38
6475854 1984
46
A boy with congenital hypothalamic hypothyroidism. 38
6496170 1984
47
Increased sensitivity of the thyrotroph to thyrotropin-releasing hormones in rats with hypothalamic hypothyroidism. 38
6418526 1984
48
[Usefulness of the TRH-T3 test in the diagnosis of central hypothyroidism]. 38
6420209 1983
49
Chronic hypernatremia from a congenital defect in osmoregulation of thirst and vasopressin. 38
6188820 1983
50
Assessment of thyroid function with hormone assays. 38
6414358 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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