MCID: GND003
MIFTS: 44

Gonadal Disease

Categories: Endocrine diseases

Aliases & Classifications for Gonadal Disease

MalaCards integrated aliases for Gonadal Disease:

Name: Gonadal Disease 12 15
Gonadal Disorders 44 73
Gonadal Dysfunction 55

Classifications:



External Ids:

Disease Ontology 12 DOID:2277
MeSH 44 D006058
NCIt 50 C26786
UMLS 73 C0018050

Summaries for Gonadal Disease

Disease Ontology : 12 An endocrine system disease that is located in the gonads.

MalaCards based summary : Gonadal Disease, also known as gonadal disorders, is related to pituitary tumors and precocious puberty. An important gene associated with Gonadal Disease is FSHR (Follicle Stimulating Hormone Receptor), and among its related pathways/superpathways are Endometrial cancer and Immune response IFN gamma signaling pathway. Affiliated tissues include lung, brain and liver, and related phenotypes are endocrine/exocrine gland and growth/size/body region

Related Diseases for Gonadal Disease

Diseases related to Gonadal Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 pituitary tumors 30.1 GH1 IGF1 POMC
2 precocious puberty 30.1 GH1 GNRH1 KISS1R
3 acromegaly 30.1 GH1 IGF1 POMC
4 prader-willi syndrome 30.1 GH1 GNRH1 IGF1 POMC
5 pituitary gland disease 30.1 CRH GH1 GNRH1 IGF1 POMC
6 gynecomastia 30.1 AR POMC SHBG SRY
7 hypopituitarism 30.0 CRH GH1 GNRH1 IGF1 POMC
8 49, xxxxx 11.0
9 hypogonadism 10.8
10 hereditary site-specific ovarian cancer syndrome 10.4 BRCA1 BRCA2
11 acidophil adenoma 10.4 IGF1 POMC
12 pituitary infarct 10.4 GNRH1 IGF1 POMC
13 breast reconstruction 10.4 BRCA1 BRCA2
14 tuberculous salpingitis 10.4 BRCA1 BRCA2
15 tsh producing pituitary tumor 10.4 GH1 GNRH1 POMC
16 nosophobia 10.4 BRCA1 BRCA2
17 hyperpituitarism 10.4 GH1 IGF1 POMC
18 cancerophobia 10.4 BRCA1 BRCA2
19 sheehan syndrome 10.4 CRH IGF1 POMC
20 fasting hypoglycemia 10.4 CRH IGF1 POMC
21 adrenal cortical hypofunction 10.4 CRH NR5A1 POMC
22 46,xx sex reversal 1 10.4 FSHR NR5A1 SRY
23 adrenal rest tumor 10.4 GNRH1 NR5A1 POMC
24 chiasmal syndrome 10.4 GNRH1 POMC
25 pituitary-dependent cushing's disease 10.4 CRH GNRH1 POMC
26 marasmus 10.4 GH1 IGF1 SHBG
27 freemartinism 10.4 AMH GNRH1 SRY
28 central precocious puberty 10.4 GNRH1 IGF1 KISS1R
29 pituitary hormone deficiency, combined, 2 10.4 GH1 IGF1 POMC
30 male reproductive organ benign neoplasm 10.4 FOXL2 NR5A1 POMC
31 postmenopausal atrophic vaginitis 10.4 AR POMC SHBG
32 uterine corpus serous adenocarcinoma 10.4 BRCA1 TP53 TUBB3
33 synchronous bilateral breast carcinoma 10.4 BRCA1 BRCA2 TP53
34 lymphocytic hypophysitis 10.4 GH1 POMC
35 ovarian hyperstimulation syndrome 10.4 AMH FSHR GNRH1
36 glycogen-rich clear cell breast carcinoma 10.4 BRCA1 BRCA2 TP53
37 pituitary adenoma, prolactin-secreting 10.4 GH1 IGF1 POMC
38 craniopharyngioma 10.4 GH1 GNRH1 IGF1
39 empty sella syndrome 10.4 GH1 GNRH1 IGF1 POMC
40 adenohypophysitis 10.4 GH1 POMC
41 hypothalamic disease 10.3 CRH GH1 GNRH1 POMC
42 mccune-albright syndrome 10.3 AMH GH1 IGF1
43 withdrawal disorder 10.3 AR CRH POMC
44 adrenal carcinoma 10.3 CRH NR5A1 POMC
45 anorchia 10.3 NR5A1 SRY
46 uterine corpus cancer 10.3 BRCA1 TP53 TUBB3
47 47, xxy 10.3 AR SHBG
48 bartholin's duct cyst 10.3 AR TP53
49 hypothyroidism, congenital, nongoitrous, 4 10.3 CRH GH1 IGF1 POMC
50 primary peritoneal carcinoma 10.3 BRCA1 BRCA2 TP53

Graphical network of the top 20 diseases related to Gonadal Disease:



Diseases related to Gonadal Disease

Symptoms & Phenotypes for Gonadal Disease

MGI Mouse Phenotypes related to Gonadal Disease:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.38 AMH AR AREG BRCA1 BRCA2 CRH
2 growth/size/body region MP:0005378 10.34 AR AREG BRCA1 BRCA2 CRH FOXL2
3 homeostasis/metabolism MP:0005376 10.34 AMH AR AREG BRCA1 BRCA2 CRH
4 cellular MP:0005384 10.3 AR BRCA1 BRCA2 CRH FSHR IGF1
5 hematopoietic system MP:0005397 10.25 AR AREG BRCA1 BRCA2 CRH FSHR
6 cardiovascular system MP:0005385 10.22 AR AREG BRCA1 FSHR IGF1 KISS1R
7 immune system MP:0005387 10.22 AR AREG BRCA1 BRCA2 CRH FSHR
8 integument MP:0010771 10.2 AR AREG BRCA1 BRCA2 CRH FSHR
9 adipose tissue MP:0005375 10.18 AR BRCA1 CRH FSHR IGF1 KISS1R
10 mortality/aging MP:0010768 10.18 AR AREG BRCA1 BRCA2 FOXL2 FSHR
11 nervous system MP:0003631 10.1 AR BRCA1 BRCA2 CRH FSHR GNRH1
12 digestive/alimentary MP:0005381 10.09 AR AREG BRCA1 BRCA2 GNRH1 KISS1R
13 neoplasm MP:0002006 10.02 AMH AR BRCA1 BRCA2 FSHR GNRH1
14 limbs/digits/tail MP:0005371 9.98 AR BRCA1 BRCA2 CRH FSHR IGF1
15 normal MP:0002873 9.96 AR BRCA1 BRCA2 CRH FOXL2 GNRH1
16 renal/urinary system MP:0005367 9.76 AR BRCA1 CRH GNRH1 IGF1 KISS1R
17 reproductive system MP:0005389 9.73 AMH AR AREG BRCA1 BRCA2 FOXL2
18 skeleton MP:0005390 9.28 AR BRCA1 BRCA2 CRH FSHR GNRH1

Drugs & Therapeutics for Gonadal Disease

Search Clinical Trials , NIH Clinical Center for Gonadal Disease

Cochrane evidence based reviews: gonadal disorders

Genetic Tests for Gonadal Disease

Anatomical Context for Gonadal Disease

MalaCards organs/tissues related to Gonadal Disease:

41
Lung, Brain, Liver, Bone, Colon, Ovary, Prostate

The Foundational Model of Anatomy Ontology organs/tissues related to Gonadal Disease:

19
The Gonads

Publications for Gonadal Disease

Articles related to Gonadal Disease:

# Title Authors Year
1
CBX2 gene analysis in patients with 46,XY and 46,XX gonadal disorders of sex development. ( 23219007 )
2013
2
Declining sperm counts and increasing incidence of testicular cancer and other gonadal disorders: is there a connection? ( 8567242 )
1993
3
Gonadal disorders in infancy and early childhood. ( 2012381 )
1991
4
Effect of synthetic luteinizing hormone-releasing hormone (LH-RH) on the release of gonadotropins in hypophyso-gonadal disorders of children and adolescents. 3. Hypopituitarism. ( 4203526 )
1974
5
Effect of synthetic luteinizing hormone-releasing hormone (LH-RH) on the release of gonadotropins in hypophyso-gonadal disorders of children and adolescents. V. Agonadism. ( 4598663 )
1974
6
Effect of synthetic luteinizing hormone-releasing hormone (LH-RH) on the release of gonadotropins in hypophyso-gonadal disorders of children and adolescents. II. Precocious puberty and premature thelarche. ( 4581504 )
1973

Variations for Gonadal Disease

Expression for Gonadal Disease

Search GEO for disease gene expression data for Gonadal Disease.

Pathways for Gonadal Disease

GO Terms for Gonadal Disease

Cellular components related to Gonadal Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.23 AMH ANOS1 AREG CRH GH1 GNRH1
2 lateral element GO:0000800 8.96 BRCA1 BRCA2

Biological processes related to Gonadal Disease according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.95 AMH AREG GH1 GNRH1 IGF1 POMC
2 cell proliferation GO:0008283 9.92 AR AREG BRCA2 IGF1 TP53
3 cell-cell signaling GO:0007267 9.85 AMH AR AREG GNRH1 POMC
4 response to estradiol GO:0032355 9.77 AREG BRCA2 GH1
5 male gonad development GO:0008584 9.77 AR FSHR NR5A1
6 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.73 FSHR GH1 IGF1
7 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.71 AREG GH1 IGF1 TP53
8 positive regulation of gene expression GO:0010628 9.7 AMH AR BRCA1 CRH IGF1 NR5A1
9 mammary gland alveolus development GO:0060749 9.61 AR AREG
10 sex differentiation GO:0007548 9.61 AMH AR SRY
11 regulation of systemic arterial blood pressure GO:0003073 9.58 AR FSHR
12 gonad development GO:0008406 9.58 AMH FSHR
13 positive regulation of intracellular estrogen receptor signaling pathway GO:0033148 9.57 AR FSHR
14 positive regulation of transcription, DNA-templated GO:0045893 9.56 AR BRCA1 BRCA2 FOXL2 IGF1 NR5A1
15 positive regulation of male gonad development GO:2000020 9.55 NR5A1 SRY
16 sex determination GO:0007530 9.54 AMH NR5A1
17 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.54 BRCA1 BRCA2 TP53
18 chordate embryonic development GO:0043009 9.51 BRCA1 BRCA2
19 male sex determination GO:0030238 9.5 GNRH1 NR5A1 SRY
20 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.43 AR GH1 IGF1
21 female gonad development GO:0008585 8.92 BRCA2 FOXL2 FSHR NR5A1
22 positive regulation of transcription by RNA polymerase II GO:0045944 10.1 AR BRCA1 FOXL2 IGF1 NR5A1 POMC

Molecular functions related to Gonadal Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.46 AMH AREG GH1 IGF1
2 hormone activity GO:0005179 9.1 AMH CRH GH1 GNRH1 IGF1 POMC
3 androgen binding GO:0005497 8.96 AR SHBG

Sources for Gonadal Disease

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
Content
Loading form....