MCID: GND004
MIFTS: 51

Gonadal Dysgenesis malady

Categories: Rare diseases, Endocrine diseases, Reproductive diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Gonadal Dysgenesis

Aliases & Descriptions for Gonadal Dysgenesis:

Name: Gonadal Dysgenesis 12 50 42 14 69
Gonadal Dysgenesis Syndrome 12 29
Turner Syndrome 69

Classifications:



External Ids:

Disease Ontology 12 DOID:14447
ICD9CM 35 758.6
MeSH 42 D006059
NCIt 47 C61420
UMLS 69 C0018051

Summaries for Gonadal Dysgenesis

Disease Ontology : 12 A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.

MalaCards based summary : Gonadal Dysgenesis, also known as gonadal dysgenesis syndrome, is related to 46 xx gonadal dysgenesis and 46 xy gonadal dysgenesis. An important gene associated with Gonadal Dysgenesis is SRY (Sex Determining Region Y). The drugs Metformin and Cyproterone Acetate have been mentioned in the context of this disorder. Affiliated tissues include ovary, testis and bone, and related phenotypes are endocrine/exocrine gland and homeostasis/metabolism

Wikipedia : 71 Gonadal dysgenesis is any congenital developmental disorder of the reproductive system characterized by... more...

Related Diseases for Gonadal Dysgenesis

Diseases in the Gonadal Dysgenesis family:

46 Xy Gonadal Dysgenesis 46 Xx Gonadal Dysgenesis

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

(show top 50) (show all 138)
id Related Disease Score Top Affiliating Genes
1 46 xx gonadal dysgenesis 30.3 AMH BMP15 C2orf80 DHH DMRT1 FOXL2
2 46 xy gonadal dysgenesis 12.5
3 46xy partial gonadal dysgenesis, with minifascicular neuropathy 12.3
4 mixed gonadal dysgenesis 12.3
5 46,xy disorder of sex development and 46,xy complete gonadal dysgenesis 12.1
6 45,x/46,xy mixed gonadal dysgenesis 12.1
7 46,xy partial gonadal dysgenesis 12.1
8 gonadal dysgenesis, xy type, with associated anomalies 12.0
9 46,xx gonadal dysgenesis epibulbar dermoid 11.9
10 46xy sex reversal 1 11.7
11 turner syndrome 11.6
12 denys-drash syndrome 11.4
13 perrault syndrome 11.3
14 46,xx testicular disorder of sex development 11.3
15 premature ovarian failure 11.2
16 46xy sex reversal 7 11.2
17 ovarian dysgenesis 1 11.2
18 perrault syndrome 1 11.1
19 sry-related 46,xy dsd and 46,xy cgd 11.1
20 46xx sex reversal 1 11.1
21 46xy sex reversal 5 10.9
22 46xy sex reversal 6 10.9
23 cbx2-related 46,xy dsd and 46,xy cgd 10.9
24 sry-negative 46,xx testicular disorder of sex development 10.9
25 46xy sex reversal 3 10.9
26 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis 10.9
27 muscular dystrophy, congenital, with infantile cataract and hypogonadism 10.9
28 chondrodysplasia-pseudohermaphroditism syndrome 10.9
29 testicular regression syndrome 10.9
30 gonadoblastoma 10.6
31 spermatogenic failure, y-linked, 1 10.2 SOX9 SRY
32 antisynthetase syndrome 10.2 NR5A1 SRY
33 cytomegalovirus retinitis 10.2 NR0B1 NR5A1
34 duchenne muscular dystrophy 10.2 NR0B1 NR5A1
35 intraventricular meningioma 10.2 SOX9 SRY WNT4
36 deafness, autosomal dominant 7 10.1 NR0B1 NR5A1 SRY
37 hermaphroditism 10.1
38 anorexia nervosa 10.1
39 brucella melitensis brucellosis 10.1 DHH FOXL2 SOX9 SRY
40 pseudohermaphroditism 10.1
41 amenorrhea 10.1
42 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 10.1 BMP15 PSMC3IP
43 centrotemporal epilepsy 10.1 NR0B1 NR5A1
44 seminoma 10.0
45 adenocarcinoma 10.0
46 mayer-rokitansky-kuster-hauser syndrome 10.0
47 neuropathy 10.0
48 sex differentiation disease 10.0 FOXL2 NR5A1 WT1
49 combined oxidative phosphorylation deficiency 5 10.0 BMP15 FOXL2 NR5A1
50 hypogonadism 10.0

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



Diseases related to Gonadal Dysgenesis

Symptoms & Phenotypes for Gonadal Dysgenesis

MGI Mouse Phenotypes related to Gonadal Dysgenesis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.97 AMH BMP15 DHH DMRT1 FOXL2 FSHR
2 homeostasis/metabolism MP:0005376 9.7 AMH DHH FOXL2 FSHR MAP3K1 NR0B1
3 reproductive system MP:0005389 9.44 WNT4 WT1 ZFPM2 AMH BMP15 DHH

Drugs & Therapeutics for Gonadal Dysgenesis

Drugs for Gonadal Dysgenesis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 337)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 14219 4091
2
Cyproterone Acetate Approved, Investigational Phase 4 427-51-0
3
Drospirenone Approved Phase 4 67392-87-4 68873
4
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-28-2 5757 53477783
5
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2 57-63-6 5991
6
Progesterone Approved, Vet_approved Phase 4,Phase 3,Phase 1,Early Phase 1 57-83-0 5994
7
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1 58-18-4 6010
8
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 58-22-0 6013
9
Norethindrone Approved Phase 4,Phase 2 68-22-4 6230
10
Ganirelix Approved Phase 4 123246-29-7, 124904-93-4 25081094
11 Moxonidine Approved Phase 4 75438-57-2 4810
12
Simvastatin Approved Phase 4 79902-63-9 54454
13
Cisplatin Approved Phase 4 15663-27-1 84093 441203 2767
14
Zinc Approved Phase 4 7440-66-6 32051 23994
15
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
16
Sevoflurane Approved, Vet_approved Phase 4,Phase 2 28523-86-6 5206
17
Menotropins Approved Phase 4 61489-71-2 5360545
18
Lenograstim Approved Phase 4 135968-09-1
19
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
20
leucovorin Approved, Nutraceutical Phase 4 58-05-9 54575, 6560146 143
21 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1
22 Androgen Antagonists Phase 4,Phase 2,Phase 1
23 Androgens Phase 4,Phase 3,Phase 2,Phase 1
24 Antioxidants Phase 4,Phase 3,Phase 2
25 Contraceptive Agents Phase 4,Phase 3,Phase 2,Phase 1
26 Contraceptive Agents, Male Phase 4,Phase 3,Phase 2
27 Contraceptives, Oral Phase 4,Phase 3,Phase 2
28 Contraceptives, Oral, Combined Phase 4,Phase 3,Phase 2
29
Cyproterone Phase 4 2098-66-0 5284537
30 Cyproterone acetate, ethinyl estradiol drug combination Phase 4
31 diuretics Phase 4
32 Diuretics, Potassium Sparing Phase 4
33 Drospirenone and ethinyl estradiol combination Phase 4
34 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
35 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
36 Estradiol valerate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 979-32-8
37 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
38 Hemostatics Phase 4
39 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
40 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
41 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
42 Mineralocorticoid Receptor Antagonists Phase 4
43 Mineralocorticoids Phase 4,Phase 2
44 Natriuretic Agents Phase 4
45 Polyestradiol phosphate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
46 Protective Agents Phase 4,Phase 3,Phase 2
47 Chorionic Gonadotropin Phase 4,Phase 3
48 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1
49 insulin Phase 4,Phase 3,Phase 2,Phase 1
50 Insulin, Globin Zinc Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 358)
id Name Status NCT ID Phase
1 Effects of ADSC Therapy in Women With POF Unknown status NCT01853501 Phase 4
2 Metformin and Gestational Diabetes in High-risk Patients: a RCTs Unknown status NCT00883259 Phase 4
3 Hemocoagulation and Lipoperoxidation in Women Using Combined Oral Contraceptives, Correction by Antioxidants Unknown status NCT02027337 Phase 4
4 Ethinyl Estradiol and Cyproterone Acetate in Irregular Menstruation Unknown status NCT01103518 Phase 4
5 First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study Completed NCT01419249 Phase 4
6 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4
7 Growth Hormone Treatment for the Prevention of Short Stature in Young Girls With Turner Syndrome Before the Age of 4 Years Completed NCT01066052 Phase 4
8 A Study to Evaluate Subjects With Turner Syndrome Treated With Growth Hormone Completed NCT00097552 Phase 4
9 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4
10 Growth Response in Girls With Turner Syndrome Completed NCT01734486 Phase 4
11 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4
12 Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome Completed NCT01518062 Phase 4
13 Predictive Markers in GHD and TS Children Treated With SAIZEN® Completed NCT00256126 Phase 4
14 Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD) Completed NCT00097526 Phase 4
15 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
16 Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure Completed NCT00732693 Phase 4
17 Modified Natural Cycle Offers a Chance of Pregnancy in Patients With Poor Response and High Basal FSH Completed NCT00417157 Phase 4
18 Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders Completed NCT00417066 Phase 4
19 Polycystic Ovary Syndrome - Improving Outcomes Completed NCT01504321 Phase 4
20 Effects of Metformin Plus Simvastatin on Polycystic Ovarian Syndrome (PCOS): A Prospective, Randomized, Double-Blind, Placebo-Controlled Study Completed NCT01021579 Phase 4
21 Taste, Smell and Chemotherapy (TASTY) Completed NCT01641172 Phase 4
22 Clinical, Metabolic and Endocrine Effects of the Treatment With Drospirenone and Ethinyl Estradiol Alone or in Combination With Myo-inositol in Young Women With Polycystic Ovary Syndrome (PCOS) and Insulin Resistance Completed NCT01511822 Phase 4
23 Sequential Therapy for Hypogonadotropic Hypogonadism Completed NCT01403532 Phase 4
24 The Effect of Induction Technique on Postoperative Pain and Agitation Completed NCT02110745 Phase 4
25 Low Dose OC Therapy in Women With Polycystic Ovary Syndrome (PCOS): Impact of BMI on Hyperandrogenism Completed NCT01360996 Phase 4
26 Effects of Metformin vs Oral Contraceptives on CV Risk Markers in PCOS Completed NCT00428311 Phase 4
27 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4
28 Metformin for Ectopic Fat Deposition and Metabolic Markers in Polycystic Ovary Syndrome (PCOS) Recruiting NCT02500147 Phase 4
29 Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin Treat Congenital Hypogonadotropic Hypogonadism Recruiting NCT02880280 Phase 4
30 Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment Recruiting NCT02408445 Phase 4
31 Filgrastim for Premature Ovarian Insufficiency Active, not recruiting NCT02783937 Phase 4
32 Study to Identify Markers of Insulin Resistance During Growth Hormone Treatment for Short Stature Terminated NCT00121875 Phase 4
33 A Clinical Study to Assess the Efficacy and Safety of DA-3002 Unknown status NCT01813630 Phase 3
34 Effect of Bromocriptine on Insulin Resistance in Polycystic Ovarian Syndrome - A Pilot Study Unknown status NCT02133755 Phase 3
35 The Effect of Androgen and Growth Hormone on Height and Learning in Girls With Turner Syndrome Completed NCT00029159 Phase 3
36 The Effect of Growth Hormone in Very Young Girls With Turner Syndrome Completed NCT00406926 Phase 3
37 Somatropin Treatment to Final Height in Turner Syndrome Completed NCT00191113 Phase 3
38 Use of Somatropin in Turner Syndrome Completed NCT01518036 Phase 3
39 Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome Completed NCT01710696 Phase 3
40 Estrogen Treatment (Oral vs. Patches) in Turner Syndrome Completed NCT00140998 Phase 3
41 An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG Completed NCT00250250 Phase 3
42 Somatropin Treatment in Patients With SHOX Deficiency and Turner Syndrome Completed NCT00190658 Phase 3
43 Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT01563926 Phase 3
44 Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq Completed NCT00234533 Phase 3
45 Theca Cell Function in Adolescents With Polycystic Ovary Syndrome (PCOS) Completed NCT01154192 Phase 3
46 TRINOVA-1: A Study of AMG 386 or Placebo, in Combination With Weekly Paclitaxel Chemotherapy, as Treatment for Ovarian Cancer, Primary Peritoneal Cancer and Fallopian Tube Cancer Completed NCT01204749 Phase 3
47 Androgen for Leydig Cell Proliferation Completed NCT01206270 Phase 2, Phase 3
48 Effect of a Commonly Used Antibiotic, Doxycycline, in Women With Polycystic Ovarian Syndrome Completed NCT01788215 Phase 3
49 The Effect of Metformin Added to Clomiphene Citrate on Pregnancy Rates in Hyperandrogenic, Chronic Oligoovulatory or Anovulatory Women Completed NCT00413179 Phase 3
50 Hormone Replacement for Premature Ovarian Insufficiency Recruiting NCT02922348 Phase 3

Search NIH Clinical Center for Gonadal Dysgenesis

Cochrane evidence based reviews: gonadal dysgenesis

Genetic Tests for Gonadal Dysgenesis

Genetic tests related to Gonadal Dysgenesis:

id Genetic test Affiliating Genes
1 Gonadal Dysgenesis 29

Anatomical Context for Gonadal Dysgenesis

MalaCards organs/tissues related to Gonadal Dysgenesis:

39
Ovary, Testis, Bone, Breast, Kidney, Uterus, Testes

Publications for Gonadal Dysgenesis

Articles related to Gonadal Dysgenesis:

(show top 50) (show all 587)
id Title Authors Year
1
Novel Heterozygous Genetic Variants in Patients with 46,XY Gonadal Dysgenesis. ( 27711951 )
2017
2
A Case of Chromosomal Disorders of Sex Development with Transverse Testicular Ectopia Mimicking Mixed Gonadal Dysgenesis. ( 27765586 )
2016
3
A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. ( 28216916 )
2016
4
Tumor risk of children with 45,X/46,XY gonadal dysgenesis in relation to their clinical presentations: Further insights into the gonadal management. ( 27032613 )
2016
5
Evidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood. ( 27116846 )
2016
6
Retraction: Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene. ( 27777913 )
2016
7
NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations. ( 27463801 )
2016
8
Early recognition of gonadal dysgenesis in congenital nephrotic syndromea8c. ( 27719739 )
2016
9
Imaging Findings in Dysgerminoma in a Case of 46 XY, Complete Gonadal Dysgenesis (Swyer syndrome). ( 27790550 )
2016
10
Mixed gonadal dysgenesis in YaoundAc: A preliminary experience about three cases. ( 27502884 )
2016
11
Gonadal dysgenesis in disorders of sex development: Diagnosis and surgical management. ( 27769830 )
2016
12
Mixed Germ Cell Tumour in a Case of Pure Gonadal Dysgenesis (Swyer Syndrome) - A Case Report. ( 26918227 )
2016
13
Commentary to 'Gonadal dysgenesis in disorders of sex development (DSD): Diagnosis and surgical management'. ( 27876298 )
2016
14
Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis. ( 27169744 )
2016
15
Clinical Features of 32 Patients with XO/XY Gonadal Dysgenesis. ( 27594153 )
2016
16
A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis. ( 27007510 )
2016
17
A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis. ( 28030592 )
2016
18
Clinical features and management of 33 patients with 46,XX pure gonadal dysgenesis. ( 27250571 )
2016
19
Mixed Gonadal Dysgenesis with an unusual "inverted" Y chromosome. ( 27941186 )
2016
20
A biallelic mutation in the homologous recombination repair gene SPIDR is associated with human gonadal dysgenesis. ( 27967308 )
2016
21
WT1 Deletion Leading to Severe 46,XY Gonadal Dysgenesis, Wilms Tumor and Gonadoblastoma: Case Report. ( 25613702 )
2015
22
Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene. ( 26817010 )
2015
23
Pure gonadal dysgenesis (46 XX type) with a familial pattern. ( 26430655 )
2015
24
An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation. ( 26316442 )
2015
25
46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing. ( 25927242 )
2015
26
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. ( 26485283 )
2015
27
An isodicentric X chromosome with gonadal dysgenesis in a lady without prominent somatic features of Turner's syndrome. A case report. ( 25618587 )
2015
28
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. ( 26544196 )
2015
29
A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis. ( 26871559 )
2015
30
Association of immunohistochemical markers with premalignancy in Gonadal Dysgenesis. ( 26089923 )
2015
31
Genetics: Mutation implicated in XX gonadal dysgenesis. ( 26525876 )
2015
32
Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis. ( 25813279 )
2015
33
A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis. ( 26438105 )
2015
34
A Novel Hemizygous Mutation of MAMLD1 in a Patient with 46,XY Complete Gonadal Dysgenesis. ( 25660412 )
2015
35
A rare cause of primary amenorrhoea, the XY female with gonadal dysgenesis. ( 25666240 )
2015
36
A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar. ( 25569267 )
2015
37
Identification of X Monosomy Cells From a Gonad of Mixed Gonadal Dysgenesis With a 46,XY Karyotype: Case Report. ( 25860218 )
2015
38
Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report. ( 25153220 )
2014
39
5. Gonadal Dysgenesis. ( 25105336 )
2014
40
Endometrial cancer in a woman with 46,XY pure gonadal dysgenesis. ( 25188547 )
2014
41
45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction. ( 24554973 )
2014
42
Long-term growth hormone treatment in a boy with 45,X/46,X,idic(Yp) mixed gonadal dysgenesis: comparison with growth pattern of an untreated patient. ( 25402381 )
2014
43
State of the art review in gonadal dysgenesis: challenges in diagnosis and management. ( 24731683 )
2014
44
Malignant ovarian germ cell tumor - role of surgical staging and gonadal dysgenesis. ( 24836278 )
2014
45
Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males. ( 25580123 )
2014
46
A complete gonadal dysgenesis case with mental retardation, congenital hipA dislocation, severe vertebra rotoscoliosis, pectus excavatus, and spina bifida occulta. ( 22357191 )
2013
47
45,X/46,X,psu dic(Y) Gonadal Dysgenesis: Influence of the Two Cell Lines on the Clinical Phenotype, Including Gonadal Histology. ( 24247294 )
2013
48
In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis. ( 23786321 )
2013
49
A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis. ( 23624391 )
2013
50
Gonadal dysgenesis due to isochromosome formation of long arm of X chromosome. ( 24482972 )
2013

Variations for Gonadal Dysgenesis

Expression for Gonadal Dysgenesis

Search GEO for disease gene expression data for Gonadal Dysgenesis.

Pathways for Gonadal Dysgenesis

GO Terms for Gonadal Dysgenesis

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

(show all 31)
id Name GO ID Score Top Affiliating Genes
1 spermatogenesis GO:0007283 9.98 DMRT1 FSHR NR0B1 SOX9 TSPY1
2 female gonad development GO:0008585 9.78 FOXL2 FSHR NR5A1 WNT4
3 branching involved in ureteric bud morphogenesis GO:0001658 9.75 SOX9 WNT4 WT1
4 adrenal gland development GO:0030325 9.73 NR0B1 NR5A1 WNT4 WT1
5 Sertoli cell development GO:0060009 9.71 DMRT1 FSHR SOX9
6 gonad development GO:0008406 9.71 AMH FSHR NR0B1 WT1
7 gonadal mesoderm development GO:0007506 9.7 AMH TSPY1 ZFPM2
8 male gonad development GO:0008584 9.7 DMRT1 FSHR NR0B1 NR5A1 SOX9 WNT4
9 Sertoli cell differentiation GO:0060008 9.69 DMRT1 NR0B1 SOX9
10 hormone-mediated signaling pathway GO:0009755 9.65 FSHR NR5A1
11 sex differentiation GO:0007548 9.65 AMH DMRT1 SRY TSPY1 WNT4
12 female gamete generation GO:0007292 9.64 BMP15 FSHR
13 tissue development GO:0009888 9.63 NR5A1 WT1
14 uterus development GO:0060065 9.63 FOXL2 FSHR
15 negative regulation of female gonad development GO:2000195 9.63 NR5A1 WT1 ZFPM2
16 hormone metabolic process GO:0042445 9.62 NR5A1 WNT4
17 sex determination GO:0007530 9.62 AMH NR0B1 NR5A1 WT1
18 oocyte development GO:0048599 9.61 DMRT1 WNT4
19 Leydig cell differentiation GO:0033327 9.61 DHH NR0B1
20 mesenchymal to epithelial transition GO:0060231 9.6 WNT4 WT1
21 regulation of steroid biosynthetic process GO:0050810 9.59 DHH NR5A1
22 renal vesicle induction GO:0072034 9.56 SOX9 WNT4
23 male sex determination GO:0030238 9.35 DHH DMRT1 NR0B1 SOX9 SRY
24 positive regulation of male gonad development GO:2000020 9.1 DMRT1 NR5A1 SOX9 SRY WT1 ZFPM2
25 transcription, DNA-templated GO:0006351 10.25 DMRT1 FOXL2 NR0B1 NR5A1 SOX9 SRY
26 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.1 DMRT1 FOXL2 NR5A1 SOX9 WT1 ZFPM2
27 positive regulation of transcription, DNA-templated GO:0045893 10.1 BMP15 FOXL2 NR5A1 SOX9 SRY WNT4
28 cell differentiation GO:0030154 10.07 AMH DMRT1 FOXL2 NR0B1 NR5A1 SOX9
29 negative regulation of transcription from RNA polymerase II promoter GO:0000122 10.04 DMRT1 FOXL2 NR0B1 WT1 ZFPM2
30 transcription from RNA polymerase II promoter GO:0006366 10.04 DMRT1 FOXL2 NR5A1 SOX9 WT1 ZFPM2
31 negative regulation of transcription, DNA-templated GO:0045892 10.02 FOXL2 NR0B1 SOX9 WNT4 WT1 ZFPM2

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.73 DMRT1 FOXL2 NR5A1 SOX9 SRY WT1
2 DNA binding GO:0003677 9.61 DMRT1 FOXL2 NR0B1 NR5A1 PSMC3IP SOX9
3 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.33 NR5A1 SOX9 SRY
4 sequence-specific DNA binding GO:0043565 9.1 DMRT1 FOXL2 NR0B1 NR5A1 SOX9 WT1

Sources for Gonadal Dysgenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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