MCID: ISL004
MIFTS: 28

Isolated Gonadotropin-Releasing Hormone Deficiency

Categories: Endocrine diseases

Aliases & Classifications for Isolated Gonadotropin-Releasing Hormone Deficiency

MalaCards integrated aliases for Isolated Gonadotropin-Releasing Hormone Deficiency:

Name: Isolated Gonadotropin-Releasing Hormone Deficiency 24
Idiopathic Hypogonadotropic Hypogonadism 24 73
Hypogonadism, Isolated Hypogonadotropic 73
Isolated Hypogonadotropic Hypogonadism 24
Isolated Gonadotropin Deficiency 73

Characteristics:

GeneReviews:

24
Penetrance The underlying genetic etiology typically determines the penetrance of both reproductive and non-reproductive phenotypes...

Classifications:



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Summaries for Isolated Gonadotropin-Releasing Hormone Deficiency

MalaCards based summary : Isolated Gonadotropin-Releasing Hormone Deficiency, also known as idiopathic hypogonadotropic hypogonadism, is related to hypogonadotropic hypogonadism 7 with or without anosmia and hypogonadotropic hypogonadism. An important gene associated with Isolated Gonadotropin-Releasing Hormone Deficiency is GNRH1 (Gonadotropin Releasing Hormone 1). Affiliated tissues include pituitary, brain and liver.

GeneReviews: NBK1334

Related Diseases for Isolated Gonadotropin-Releasing Hormone Deficiency

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 7 with or without anosmia 12.5
2 hypogonadotropic hypogonadism 11.8
3 kallmann syndrome 11.8
4 normosmic congenital hypogonadotropic hypogonadism 11.7
5 hypogonadotropic hypogonadism 2 with or without anosmia 11.7
6 hypogonadotropic hypogonadism 3 with or without anosmia 11.7
7 hypogonadotropic hypogonadism 1 with or without anosmia 11.7
8 hypogonadotropic hypogonadism 4 with or without anosmia 11.7
9 hypogonadotropic hypogonadism 5 with or without anosmia 11.7
10 hypogonadotropic hypogonadism 6 with or without anosmia 11.7
11 hypogonadotropic hypogonadism 8 with or without anosmia 11.7
12 hypogonadotropic hypogonadism 9 with or without anosmia 11.7
13 hypogonadotropic hypogonadism 10 with or without anosmia 11.7
14 hypogonadotropic hypogonadism 11 with or without anosmia 11.7
15 hypogonadotropic hypogonadism 12 with or without anosmia 11.7
16 hypogonadotropic hypogonadism 13 with or without anosmia 11.7
17 hypogonadotropic hypogonadism 14 with or without anosmia 11.7
18 hypogonadotropic hypogonadism 15 with or without anosmia 11.7
19 hypogonadotropic hypogonadism 16 with or without anosmia 11.7
20 hypogonadotropic hypogonadism 17 with or without anosmia 11.7
21 hypogonadotropic hypogonadism 18 with or without anosmia 11.7
22 hypogonadotropic hypogonadism 19 with or without anosmia 11.7
23 hypogonadotropic hypogonadism 20 with or without anosmia 11.7
24 hypogonadotropic hypogonadism 21 with or without anosmia 11.7
25 hypogonadotropic hypogonadism 22 with or without anosmia 11.7
26 hypogonadism 11.1
27 hypogonadotropism 10.6
28 infertility 10.2
29 cat eye syndrome 10.1
30 osteoporosis 10.1
31 pituitary hormone deficiency, combined, 2 10.1
32 liver disease 10.1
33 male infertility 10.1
34 nonalcoholic fatty liver disease 10.1
35 premature ejaculation 10.1
36 fatty liver disease 10.1
37 anorchia 10.1
38 precocious puberty 10.1
39 central precocious puberty 10.1
40 combined pituitary hormone deficiency 10.1
41 wolff-parkinson-white syndrome 10.0
42 microphthalmia 10.0
43 graves' disease 10.0
44 gonadal dysgenesis 10.0
45 hypothalamic disease 10.0
46 movement disease 10.0

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



Diseases related to Isolated Gonadotropin-Releasing Hormone Deficiency

Symptoms & Phenotypes for Isolated Gonadotropin-Releasing Hormone Deficiency

Drugs & Therapeutics for Isolated Gonadotropin-Releasing Hormone Deficiency

Search Clinical Trials , NIH Clinical Center for Isolated Gonadotropin-Releasing Hormone Deficiency

Genetic Tests for Isolated Gonadotropin-Releasing Hormone Deficiency

Anatomical Context for Isolated Gonadotropin-Releasing Hormone Deficiency

MalaCards organs/tissues related to Isolated Gonadotropin-Releasing Hormone Deficiency:

41
Pituitary, Brain, Liver, Bone, Heart, Eye, Prostate

Publications for Isolated Gonadotropin-Releasing Hormone Deficiency

Articles related to Isolated Gonadotropin-Releasing Hormone Deficiency:

(show top 50) (show all 140)
# Title Authors Year
1
Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings. ( 29777911 )
2018
2
The role of ADAMTS4 and ADAMTS9 in cardiovascular disease in premature ovarian insufficiency and idiopathic hypogonadotropic hypogonadism. ( 30187439 )
2018
3
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism. ( 30216942 )
2018
4
Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism. ( 30430143 )
2018
5
Prevalence and Associated Phenotypes of PLXNA1 Variants in Normosmic and Anosmic Idiopathic Hypogonadotropic Hypogonadism. ( 30467832 )
2018
6
Clinical characteristics of 138 Chinese female patients with idiopathic hypogonadotropic hypogonadism. ( 29018155 )
2017
7
Idiopathic hypogonadotropic hypogonadism reversal after testosterone replacement in a 34-year-old male. ( 28583920 )
2017
8
Conformational Change in the Ligand-Binding Pocket via a KISS1R Mutation (P147L) Leads to Isolated Gonadotropin-Releasing Hormone Deficiency. ( 29264451 )
2017
9
Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism. ( 29280744 )
2017
10
CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism. ( 28324054 )
2017
11
Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1. ( 27086651 )
2016
12
Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide. ( 26595427 )
2016
13
Evaluation of Basal Serum Adrenocorticotropic Hormone and Cortisol Levels and Their Relationship with Nonalcoholic Fatty Liver Disease in Male Patients with Idiopathic Hypogonadotropic Hypogonadism. ( 27174321 )
2016
14
Kisspeptin levels in idiopathic hypogonadotropic hypogonadism diagnosed male patients and its relation with glucose-insulin dynamic. ( 27616469 )
2016
15
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families. ( 25262569 )
2015
16
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency. ( 26207952 )
2015
17
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience. ( 25883924 )
2015
18
Sequential versus Continual Purified Urinary FSH / hCG in Men with Idiopathic Hypogonadotropic Hypogonadism. ( 25825944 )
2015
19
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. ( 26277103 )
2015
20
Mutations in KISS1 are not responsible for idiopathic hypogonadotropic hypogonadism in Chinese patients. ( 25783047 )
2015
21
The Effects of Gonadotropin Replacement Therapy on Metabolic Parameters and Body Composition in Men with Idiopathic Hypogonadotropic Hypogonadism. ( 26485362 )
2015
22
Congenital combined pituitary hormone deficiency patients have better responses to gonadotrophin-induced spermatogenesis than idiopathic hypogonadotropic hypogonadism patients. ( 26141714 )
2015
23
Effects of androgen replacement therapy on cornea and tear function in men with idiopathic hypogonadotropic hypogonadism. ( 25812631 )
2015
24
Study on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance. ( 26629483 )
2015
25
Hormonal therapy (hCG and rhFSH) for infertile men with adult-onset idiopathic hypogonadotropic hypogonadism. ( 25518839 )
2015
26
Reversal of idiopathic hypogonadotropic hypogonadism: a cohort study in Chinese patients. ( 25578938 )
2015
27
A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism. ( 25636053 )
2015
28
An idiopathic hypogonadotropic hypogonadism patient with metabolic disorder and diabetes: case report. ( 25337838 )
2014
29
Effect of androgen replacement therapy on atherosclerotic risk markers in young-to-middle-aged men with idiopathic hypogonadotropic hypogonadism. ( 25280063 )
2014
30
Clinical pregnancy in a woman with idiopathic hypogonadotropic hypogonadism and low AMH: utility of ovarian reserve markers in IHH. ( 25113621 )
2014
31
Exogenous kisspeptin administration as a probe of GnRH neuronal function in patients with idiopathic hypogonadotropic hypogonadism. ( 25226293 )
2014
32
A female patient with normosmic idiopathic hypogonadotropic hypogonadism carrying a novel mutation in FGFR1. ( 25501157 )
2014
33
Normosmic idiopathic hypogonadotropic hypogonadism: update on the genetic background and future challenges. ( 23640935 )
2013
34
A network investigation on idiopathic hypogonadotropic hypogonadism in china. ( 24385983 )
2013
35
Progression of puberty after initiation of androgen therapy in patients with idiopathic hypogonadotropic hypogonadism. ( 24083166 )
2013
36
[Multiplex ligation dependent probe amplification analysis of KAL1, GNRH1, GNRHR, PROK2 and PROKR2 in male patients with idiopathic hypogonadotropic hypogonadism]. ( 24002956 )
2013
37
An objective olfactory evaluation and its correlation with magnetic resonance imaging findings in Asian Indian patients with idiopathic hypogonadotropic hypogonadism. ( 23512393 )
2013
38
Familial normosmic idiopathic hypogonadotropic hypogonadism: is there a phenotypic marker for each genetic mutation? Report of three cases and review of literature. ( 23230250 )
2012
39
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. ( 22766261 )
2012
40
Long-term outcome of idiopathic hypogonadotropic hypogonadism. ( 22499222 )
2012
41
Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism. ( 23585175 )
2012
42
Role of basal and provocative serum prolactin in differentiating idiopathic hypogonadotropic hypogonadism and constitutional delayed puberty--a diagnostic dilemma. ( 24397058 )
2012
43
Molecular defects of the GnRH-receptor gene in Chinese patients with idiopathic hypogonadotropic hypogonadism and the severity of hypogonadism. ( 23155690 )
2012
44
Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications. ( 22072740 )
2012
45
Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism. ( 23096908 )
2012
46
Serum anti-Mullerian hormone levels correlate with ovarian response in idiopathic hypogonadotropic hypogonadism. ( 22547042 )
2012
47
Impact of long-term gonadotropin replacement treatment on sleep in men with idiopathic hypogonadotropic hypogonadism. ( 21143417 )
2011
48
The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. ( 21856375 )
2011
49
Effects of substitutive therapy on right ventricular systolic and diastolic functions in patients with idiopathic hypogonadotropic hypogonadism. ( 20820132 )
2011
50
[Mutation of the KAL1 gene in 30 male patients with idiopathic hypogonadotropic hypogonadism]. ( 21351529 )
2011

Variations for Isolated Gonadotropin-Releasing Hormone Deficiency

Expression for Isolated Gonadotropin-Releasing Hormone Deficiency

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

Pathways for Isolated Gonadotropin-Releasing Hormone Deficiency

GO Terms for Isolated Gonadotropin-Releasing Hormone Deficiency

Sources for Isolated Gonadotropin-Releasing Hormone Deficiency

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