MCID: GND004
MIFTS: 50

Gonadal Dysgenesis

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

Aliases & Classifications for Gonadal Dysgenesis

MalaCards integrated aliases for Gonadal Dysgenesis:

Name: Gonadal Dysgenesis 12 72 49 28 41 14 69
Gonadal Dysgenesis Syndrome 12
Turner Syndrome 69

Classifications:



External Ids:

Disease Ontology 12 DOID:14447
ICD9CM 34 758.6
MeSH 41 D006059
NCIt 46 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 mixed gonadal dysgenesis and 46 xy gonadal dysgenesis. An important gene associated with Gonadal Dysgenesis is SRY (Sex Determining Region Y). The drugs Progesterone and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include ovary, bone and testes, and related phenotypes are endocrine/exocrine gland and homeostasis/metabolism

Wikipedia : 72 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 151)
# Related Disease Score Top Affiliating Genes
1 mixed gonadal dysgenesis 33.6 AMH DHH FOXL2 SOX9 SRY
2 46 xy gonadal dysgenesis 32.0 C2orf80 DHH DMRT1 MAP3K1 NR0B1 NR5A1
3 46,xy partial gonadal dysgenesis 31.9 DHH MAP3K1 NR0B1 NR5A1 SOX9 SRY
4 premature ovarian failure 1 30.8 AMH BMP15 FOXL2 FSHR NR5A1 WT1
5 hermaphroditism 30.7 NR0B1 SOX9 SRY
6 gonadoblastoma 30.6 FOXL2 SOX9 SRY TSPY1 WT1
7 46,xx sex reversal 1 30.6 BMP15 FSHR NR0B1 NR5A1 PSMC3IP SOX9
8 amenorrhea 29.9 BMP15 FSHR NR5A1 SRY
9 hypospadias 29.7 NR5A1 SOX9 SRY WT1
10 frasier syndrome 29.4 AMH FGF9 NR5A1 SOX9 SRY WT1
11 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 12.4
12 46 xx gonadal dysgenesis 12.3
13 45,x/46,xy mixed gonadal dysgenesis 12.2
14 alopecia universalis congenita, xy gonadal dysgenesis, and laryngomalacia 12.2
15 gonadal dysgenesis, xy type, with associated anomalies 12.1
16 46,xx gonadal dysgenesis epibulbar dermoid 12.0
17 46,xy sex reversal 1 12.0
18 ovarian dysgenesis 1 11.8
19 turner syndrome 11.8
20 46,xy sex reversal 4 11.7
21 46,xy sex reversal 3 11.5
22 46,xy sex reversal 7 11.5
23 perrault syndrome 11.5
24 denys-drash syndrome 11.3
25 perrault syndrome 1 11.3
26 46,xy sex reversal 5 11.2
27 46,xy sex reversal 6 11.2
28 46,xy sex reversal 10 11.1
29 muscular dystrophy, congenital, with infantile cataract and hypogonadism 11.0
30 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis 11.0
31 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis 11.0
32 campomelic dysplasia 11.0
33 testicular regression syndrome 11.0
34 chondrodysplasia-pseudohermaphroditism syndrome 11.0
35 anorchia 10.4 NR5A1 SRY
36 uterine hypoplasia 10.3 BMP15 PSMC3IP
37 sertoli cell tumor 10.2 NR5A1 WT1
38 sex differentiation disease 10.2
39 adrenal cortical hypofunction 10.2 NR0B1 NR5A1
40 freemartinism 10.2 AMH BMP15 SRY
41 bulimia nervosa 2 10.2
42 hereditary wilms' tumor 10.2
43 alternating hemiplegia of childhood 10.2 NR0B1 NR5A1 SRY
44 wilms tumor 5 10.2
45 wilms tumor 6 10.2
46 pseudohermaphroditism 10.2
47 mayer-rokitansky-kuster-hauser syndrome 10.1
48 adenocarcinoma 10.1
49 seminoma 10.1
50 neuropathy 10.1

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.97 AMH BMP15 DHH DMRT1 FGF9 FOXL2
2 homeostasis/metabolism MP:0005376 9.73 AMH DHH FGF9 FOXL2 FSHR MAP3K1
3 reproductive system MP:0005389 9.44 ZFPM2 AMH BMP15 DHH DMRT1 FGF9

Drugs & Therapeutics for Gonadal Dysgenesis

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

(show top 50) (show all 107)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Progesterone Approved, Vet_approved Phase 4,Phase 3,Early Phase 1 57-83-0 5994
2
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-28-2 5757
3
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2 57-63-6 5991
4
Norethindrone Approved Phase 4 68-22-4 6230
5
Ganirelix Approved Phase 4 124904-93-4, 123246-29-7 25081094
6
Lenograstim Approved, Investigational Phase 4 135968-09-1
7
Lactitol Investigational Phase 4 585-86-4 3871
8 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
9 Hormones Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
11 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
12 Contraceptive Agents Phase 4,Phase 3,Phase 2,Phase 1
13 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
14 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
15 Estradiol valerate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 979-32-8
16 Polyestradiol phosphate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
17 Contraceptives, Oral Phase 4,Phase 3,Phase 2
18 Norethindrone acetate Phase 4
19 Norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination Phase 4
20 Norinyl Phase 4
21 Progestins Phase 4,Phase 3,Early Phase 1
22 Chorionic Gonadotropin Phase 4
23 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1
24 Deslorelin Phase 4
25 Luteolytic Agents Phase 4
26 Triptorelin Pamoate Phase 4
27 Adjuvants, Immunologic Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
28 Hypoglycemic Agents Phase 4
29 insulin Phase 4
30 Insulin, Globin Zinc Phase 4
31
Testosterone Approved, Investigational Phase 3,Phase 2,Phase 1 58-22-0 6013
32
Methyltestosterone Approved Phase 3,Phase 1,Phase 2 58-18-4 6010
33
Oxandrolone Approved, Investigational Phase 3,Phase 2,Phase 1 53-39-4 5878
34
Medroxyprogesterone acetate Approved, Investigational Phase 3,Phase 2 71-58-9
35
Norgestimate Approved, Investigational Phase 3 35189-28-7 6540478
36
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
37 Racepinephrine Approved Phase 2, Phase 3 329-65-7
38
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 54670067 5785
39
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3, Phase 1, Early Phase 1 53-43-0 9860744
40 Anabolic Agents Phase 3,Phase 2,Phase 1
41 Androgens Phase 3,Phase 2,Phase 1
42 Antioxidants Phase 3
43 Estrogens, Conjugated (USP) Phase 3,Phase 1
44 Micronutrients Phase 3,Phase 1
45 Protective Agents Phase 3
46 Testosterone 17 beta-cypionate Phase 3,Phase 1,Phase 2
47
Testosterone enanthate Phase 3,Phase 1,Phase 2 315-37-7 9416
48 Testosterone undecanoate Phase 3,Phase 1,Phase 2
49 Trace Elements Phase 3,Phase 1
50 Vitamins Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 154)

# Name Status NCT ID Phase Drugs
1 Effects of ADSC Therapy in Women With POF Unknown status NCT01853501 Phase 4
2 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
3 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
4 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4 estradiol
5 A Study to Evaluate Subjects With Turner Syndrome Treated With Growth Hormone Completed NCT00097552 Phase 4
6 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
7 Growth Response in Girls With Turner Syndrome Completed NCT01734486 Phase 4 somatropin;somatropin
8 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
9 Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome Completed NCT01518062 Phase 4 somatropin;somatropin;somatropin;oestrogen
10 Predictive Markers in GHD and TS Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen
11 Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD) Completed NCT00097526 Phase 4
12 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
13 Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure Completed NCT00732693 Phase 4 Ethinylestradiol / Norethisterone;Estradiol / Progesterone
14 Modified Natural Cycle Offers a Chance of Pregnancy in Patients With Poor Response and High Basal FSH Completed NCT00417157 Phase 4 recombinant FSH (Puregon, Organon, The Netherlands);GnRH antag: Ganirelix (Orgalutran, Organon, The Netherlands);hCG (Pregnyl, Organon, The Netherlands)
15 Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders Completed NCT00417066 Phase 4 Ganirelix 0.25mg (Orgalutran, Organon, The Netherlands);Arvekap 0.1mg (Triptorelin, Ipsen, France)
16 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4 Somatropin
17 Filgrastim for Premature Ovarian Insufficiency Active, not recruiting NCT02783937 Phase 4 Saline
18 Study to Identify Markers of Insulin Resistance During Growth Hormone Treatment for Short Stature Terminated NCT00121875 Phase 4 somatropin (rDNA)
19 The Effect of Androgen and Growth Hormone on Height and Learning in Girls With Turner Syndrome Completed NCT00029159 Phase 3 estrogen;androgen
20 The Effect of Growth Hormone in Very Young Girls With Turner Syndrome Completed NCT00406926 Phase 3 Somatropin
21 Somatropin Treatment to Final Height in Turner Syndrome Completed NCT00191113 Phase 3 Somatropin;Ethinyl estradiol;Medroxyprogesterone acetate
22 Use of Somatropin in Turner Syndrome Completed NCT01518036 Phase 3 somatropin;somatropin
23 Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome Completed NCT01710696 Phase 3 17-beta estradiol;17-beta estradiol
24 Estrogen Treatment (Oral vs. Patches) in Turner Syndrome Completed NCT00140998 Phase 3 17 beta estradiol
25 An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG Completed NCT00250250 Phase 3 ZOMACTON
26 Somatropin Treatment in Patients With SHOX Deficiency and Turner Syndrome Completed NCT00190658 Phase 3 Somatropin (rDNA origin) for injection
27 Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq Completed NCT00234533 Phase 3 Somatropin (rDNA origin)
28 Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT01563926 Phase 3 somatropin
29 Hormone Replacement for Premature Ovarian Insufficiency Recruiting NCT02922348 Phase 3 Hormone Replacement Therapy;Combined Oral Contraceptives
30 A Clinical Study to Assess the Efficacy and Safety of DA-3002 Active, not recruiting NCT01813630 Phase 3 DA-3002;Genotropin®
31 Study of Oral Dehydroepiandrosterone(DHEA) to Treat Previously Unexplained Infertility Terminated NCT00650754 Phase 2, Phase 3
32 Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF) Terminated NCT00948857 Phase 2, Phase 3
33 Effect of Exercise and Phytoestrogen on Bone, Metabolic Syndrome Criteria and Complaints of the Early Menopause Terminated NCT00663104 Phase 3
34 Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure Unknown status NCT02043743 Phase 1, Phase 2
35 Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure Unknown status NCT02062931 Phase 1, Phase 2
36 Stem Cell Therapy Combined Hormone Replacement Therapy in Patients With Premature Ovarian Failure Unknown status NCT01742533 Phase 1, Phase 2 Hormone Replacement Therapy
37 The Effects of Estrogen on Cognition in Girls With Turner Syndrome Completed NCT00001253 Phase 2
38 Effect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients With Turner Syndrome Completed NCT00001221 Phase 2 Growth Hormone (Humatrope)
39 Oxandrolone Compared With a Placebo on Growth Rate in Girls With Growth Hormone-Treated Turner's Syndrome Completed NCT00004275 Phase 2 growth hormone;oxandrolone
40 The Effects of Hormones in Growth Hormone-Treated Girls With Turner Syndrome Completed NCT00001343 Phase 2 Humatrope;Oxandrolone
41 Hormone Replacement Therapy to Treat Turner Syndrome Completed NCT00013546 Phase 2 TMTDS
42 "It is a Real" The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure Completed NCT02372474 Phase 1, Phase 2
43 Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure Completed NCT02151890 Phase 1, Phase 2
44 GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients Completed NCT00429494 Phase 2 Leuprolide Acetate
45 Hormone Replacement in Young Women With Premature Ovarian Failure Completed NCT00001951 Phase 2 TMTDS
46 A Study of PEG-somatropin Injection to Treat Children of Turner Syndrome Recruiting NCT03189160 Phase 2
47 Human Umbilical Cord Mesenchymal Stem Cells (HUC-MSCs) Transplantation in Women With Primary Ovarian Insufficiency (POI) Recruiting NCT03033277 Phase 1, Phase 2
48 Effect of Testosterone Treatment on Embryo Quality Recruiting NCT01662466 Phase 1, Phase 2 Testosterone cream (0.5mg per gram);Placebo
49 Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF) Recruiting NCT02603744 Phase 1, Phase 2
50 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)

Search NIH Clinical Center for Gonadal Dysgenesis

Cochrane evidence based reviews: gonadal dysgenesis

Genetic Tests for Gonadal Dysgenesis

Genetic tests related to Gonadal Dysgenesis:

# Genetic test Affiliating Genes
1 Gonadal Dysgenesis 28

Anatomical Context for Gonadal Dysgenesis

MalaCards organs/tissues related to Gonadal Dysgenesis:

38
Ovary, Bone, Testes, Brain, Bone Marrow, Liver, Cortex

Publications for Gonadal Dysgenesis

Articles related to Gonadal Dysgenesis:

(show top 50) (show all 603)
# Title Authors Year
1
Gonadal dysgenesis is associated with worse outcomes in patients with ovarian nondysgerminomatous tumors: A report of the Children's Oncology Group AGCT 0132 study. ( 29286555 )
2018
2
Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import. ( 29378242 )
2018
3
Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating I^-catenin. ( 29095481 )
2018
4
Genetics of Reproductive Aging from Gonadal Dysgenesis through Menopause. ( 28278532 )
2017
5
MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature. ( 28504475 )
2017
6
Clinical heterogeneity in children with gonadal dysgenesis associated with non-mosaic 46,XY karyotype. ( 28434637 )
2017
7
CRISPR/Cas9-mediated simultaneous knockout of Dmrt1 and Dmrt3 does not recapitulate the 46,XY gonadal dysgenesis observed in 9p24.3 deletion patients. ( 28956011 )
2017
8
Novel Heterozygous Genetic Variants in Patients with 46,XY Gonadal Dysgenesis. ( 27711951 )
2017
9
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis. ( 28459839 )
2017
10
THE EVALUATION OF CASES WITH Y-CHROMOSOME GONADAL DYSGENESIS: CLINICAL EXPERIENCE FOR 18 YEARS. ( 28825592 )
2017
11
Normal pelvic ultrasound or MRI does not rule out neoplasm in patients with gonadal dysgenesis and Y chromosome material. ( 29317190 )
2017
12
Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization. ( 29190620 )
2017
13
Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis. ( 28867417 )
2017
14
Response to commentary to 'Gonadal dysgenesis in disorders of sex development (DSD): Diagnosis and surgical management'. ( 28153775 )
2017
15
Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis. ( 28787711 )
2017
16
Walker-Warburg syndrome with gonadal dysgenesis: A rare association. ( 28488658 )
2017
17
A biallelic mutation in the homologous recombination repair gene SPIDR is associated with human gonadal dysgenesis. ( 27967308 )
2016
18
A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. ( 28216916 )
2016
19
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
20
Gonadal dysgenesis in disorders of sex development: Diagnosis and surgical management. ( 27769830 )
2016
21
Early recognition of gonadal dysgenesis in congenital nephrotic syndromea8c. ( 27719739 )
2016
22
Commentary to 'Gonadal dysgenesis in disorders of sex development (DSD): Diagnosis and surgical management'. ( 27876298 )
2016
23
Mixed Gonadal Dysgenesis with an unusual "inverted" Y chromosome. ( 27941186 )
2016
24
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
25
NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations. ( 27463801 )
2016
26
Evidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood. ( 27116846 )
2016
27
A Case of Chromosomal Disorders of Sex Development with Transverse Testicular Ectopia Mimicking Mixed Gonadal Dysgenesis. ( 27765586 )
2016
28
Mixed Germ Cell Tumour in a Case of Pure Gonadal Dysgenesis (Swyer Syndrome) - A Case Report. ( 26918227 )
2016
29
Clinical Features of 32 Patients with XO/XY Gonadal Dysgenesis. ( 27594153 )
2016
30
Imaging Findings in Dysgerminoma in a Case of 46 XY, Complete Gonadal Dysgenesis (Swyer syndrome). ( 27790550 )
2016
31
Retraction: Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene. ( 27777913 )
2016
32
Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis. ( 27169744 )
2016
33
Mixed gonadal dysgenesis in YaoundAc: A preliminary experience about three cases. ( 27502884 )
2016
34
Clinical features and management of 33 patients with 46,XX pure gonadal dysgenesis. ( 27250571 )
2016
35
Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis. ( 28621097 )
2016
36
A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis. ( 27007510 )
2016
37
An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation. ( 26316442 )
2015
38
Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis. ( 25813279 )
2015
39
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. ( 26544196 )
2015
40
Pure gonadal dysgenesis (46 XX type) with a familial pattern. ( 26430655 )
2015
41
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. ( 26485283 )
2015
42
Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene. ( 26817010 )
2015
43
Association of immunohistochemical markers with premalignancy in Gonadal Dysgenesis. ( 26089923 )
2015
44
46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing. ( 25927242 )
2015
45
A Novel Hemizygous Mutation of MAMLD1 in a Patient with 46,XY Complete Gonadal Dysgenesis. ( 25660412 )
2015
46
A rare cause of primary amenorrhoea, the XY female with gonadal dysgenesis. ( 25666240 )
2015
47
An isodicentric X chromosome with gonadal dysgenesis in a lady without prominent somatic features of Turner's syndrome. A case report. ( 25618587 )
2015
48
Identification of X Monosomy Cells From a Gonad of Mixed Gonadal Dysgenesis With a 46,XY Karyotype: Case Report. ( 25860218 )
2015
49
A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar. ( 25569267 )
2015
50
Genetics: Mutation implicated in XX gonadal dysgenesis. ( 26525876 )
2015

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

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.28 FOXL2 NR0B1 NR5A1 PSMC3IP SOX9 SPIDR

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.98 FOXL2 NR0B1 SOX9 WT1 ZFPM2
2 spermatogenesis GO:0007283 9.96 DMRT1 FSHR NR0B1 SOX9 TSPY1
3 positive regulation of gene expression GO:0010628 9.93 AMH FGF9 NR5A1 SOX9
4 cell-cell signaling GO:0007267 9.9 AMH DHH FGF9 NR5A1
5 sex differentiation GO:0007548 9.73 AMH DMRT1 SRY TSPY1
6 female gonad development GO:0008585 9.71 FOXL2 FSHR NR5A1
7 adrenal gland development GO:0030325 9.7 NR0B1 NR5A1 WT1
8 male gonad development GO:0008584 9.7 DMRT1 FGF9 FSHR NR0B1 NR5A1 SOX9
9 Sertoli cell development GO:0060009 9.67 DMRT1 FSHR SOX9
10 gonad development GO:0008406 9.67 AMH FSHR NR0B1 WT1
11 gonadal mesoderm development GO:0007506 9.65 AMH TSPY1 ZFPM2
12 positive regulation of mesenchymal cell proliferation GO:0002053 9.64 FGF9 SOX9
13 Sertoli cell differentiation GO:0060008 9.63 DMRT1 NR0B1 SOX9
14 female gamete generation GO:0007292 9.62 BMP15 FSHR
15 tissue development GO:0009888 9.61 NR5A1 WT1
16 uterus development GO:0060065 9.59 FOXL2 FSHR
17 Leydig cell differentiation GO:0033327 9.58 DHH NR0B1
18 negative regulation of female gonad development GO:2000195 9.58 NR5A1 WT1 ZFPM2
19 regulation of steroid biosynthetic process GO:0050810 9.57 DHH NR5A1
20 sex determination GO:0007530 9.56 AMH NR0B1 NR5A1 WT1
21 male sex determination GO:0030238 9.43 DHH DMRT1 FGF9 NR0B1 SOX9 SRY
22 positive regulation of male gonad development GO:2000020 9.1 DMRT1 NR5A1 SOX9 SRY WT1 ZFPM2
23 transcription, DNA-templated GO:0006351 10.23 DMRT1 FOXL2 NR0B1 NR5A1 SOX9 SRY
24 positive regulation of transcription by RNA polymerase II GO:0045944 10.09 DMRT1 FOXL2 NR5A1 SOX9 WT1 ZFPM2
25 positive regulation of transcription, DNA-templated GO:0045893 10.05 BMP15 FOXL2 NR5A1 SOX9 SRY WT1
26 negative regulation of transcription by RNA polymerase II GO:0000122 10.02 DMRT1 FGF9 FOXL2 NR0B1 WT1 ZFPM2
27 cell differentiation GO:0030154 10.02 AMH DMRT1 FGF9 FOXL2 NR0B1 NR5A1
28 transcription by RNA polymerase II GO:0006366 10 DMRT1 FOXL2 NR5A1 WT1 ZFPM2

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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