Gonadal Dysgenesis

Categories: Endocrine diseases, Fetal diseases, Rare diseases
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Aliases & Classifications for Gonadal Dysgenesis

MalaCards integrated aliases for Gonadal Dysgenesis:

Name: Gonadal Dysgenesis 11 19 75 28 5 43 14 71
Gonadal Dysgenesis Syndrome 11
Turner Syndrome 71


External Ids:

Disease Ontology 11 DOID:14447
ICD9CM 34 758.6
MeSH 43 D006059
NCIt 49 C61420
SNOMED-CT 68 268356004
UMLS 71 C0018051 C0041408

Summaries for Gonadal Dysgenesis

Disease Ontology: 11 A disorder of sexual development 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 turner syndrome and mixed gonadal dysgenesis. An important gene associated with Gonadal Dysgenesis is MT-TE (Mitochondrially Encoded TRNA-Glu (GAA/G)), and among its related pathways/superpathways are Nervous system development and Kisspeptin/kisspeptin receptor system in the ovary. The drugs Estradiol and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include cortex, bone and liver, and related phenotypes are Increased shRNA abundance (Z-score > 2) and homeostasis/metabolism

Wikipedia: 75 Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system in... more...

Related Diseases for Gonadal Dysgenesis

Diseases in the Gonadal Dysgenesis family:

46 Xx Gonadal Dysgenesis

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

(show top 50) (show all 418)
# Related Disease Score Top Affiliating Genes
1 turner syndrome 33.2 SRY NR0B1 BMP15 AMH
2 mixed gonadal dysgenesis 33.1 SRY SOX9 NR5A1 NR0B1 DMRT1 AMH
3 46,xx sex reversal 1 32.8 SRY SOX9 PSMC3IP NR5A1 NR0B1 FSHR
4 perrault syndrome 32.7 PSMC3IP GDF9 FOXL2 BMP15
5 45,x/46,xy mixed gonadal dysgenesis 32.7 ZFPM2 SRY NR5A1 NR0B1 DMRT1 DHH
6 frasier syndrome 32.6 WT1 SRY SOX9 NR5A1 NR0B1
7 46 xx gonadal dysgenesis 32.5 PSMC3IP GDF9 FSHR FOXL2 BMP15 AMH
8 46,xy sex reversal 32.5 ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1
9 46,xy partial gonadal dysgenesis 32.4 ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1
10 ovarian dysgenesis 2 32.1 NR0B1 DMRT1 BMP15
11 campomelic dysplasia 32.1 SRY SOX9 NR5A1 FOXL2 DMRT1
12 46,xx sex reversal 31.7 WT1 SRY SOX9 NR5A1 NR0B1 FOXL2
13 syndrome with 46,xy disorder of sex development 31.6 SRY NR5A1
14 gonadoblastoma 31.6 WT1 SRY SOX9 NR5A1 NR0B1 FOXL2
15 amenorrhea 31.5 NR5A1 GDF9 FSHR FOXL2 BMP15
16 hypospadias 31.4 WT1 SRY SOX9 NR5A1
17 androgen insensitivity syndrome 31.2 SRY NR5A1 NR0B1 DMRT1 AMH
18 wilms tumor 1 31.2 WT1 SOX9 NR5A1 NR0B1
19 hypogonadotropic hypogonadism 31.0 SOX9 NR5A1 NR0B1 FSHR DMRT1 AMH
20 mixed germ cell cancer 31.0 DMRT1 AMH
21 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 30.8 WT1 NR5A1 DMRT2 DMRT1
22 chromosome 9p deletion syndrome 30.8 DMRT2 DMRT1
23 hermaphroditism 30.8 ZFPM2 SOX9 NR5A1 NR0B1 FOXL2 DMRT2
24 uterine hypoplasia 30.7 PSMC3IP BMP15
25 complete androgen insensitivity syndrome 30.7 SRY NR5A1 NR0B1 DMRT1 AMH
26 premature menopause 30.6 WT1 SOX9 PSMC3IP NR5A1 NR0B1 GDF9
27 azoospermia 30.6 WT1 PSMC3IP NR5A1 NR0B1 FSHR AMH
28 kallmann syndrome 30.6 NR5A1 NR0B1 FSHR AMH
29 pseudohermaphroditism 30.5 WT1 SRY SOX9 NR5A1 NR0B1 FSHR
30 lipoid congenital adrenal hyperplasia 30.5 SRY NR5A1 NR0B1 FSHR DMRT1 AMH
31 inguinal hernia 30.5 WT1 NR5A1 DMRT1 AMH
32 cryptorchidism, unilateral or bilateral 30.5 ZFPM2 WT1 SOX9 NR5A1 NR0B1 MAP3K1
33 premature ovarian failure 1 30.4 GDF9 FSHR FOXL2 BMP15 AMH
34 ovarian germ cell cancer 30.4 WT1 AMH
35 46,xy sex reversal 2 30.4 WT1 SOX9 NR5A1 NR0B1 FOXL2
36 androgen insensitivity, partial 30.3 NR5A1 NR0B1 AMH
37 leydig cell hypoplasia 30.3 NR5A1 FSHR AMH
38 infertility 30.2 NR5A1 GDF9 FSHR FOXL2 BMP15 AMH
39 ovarian gonadoblastoma 30.2 WT1 SOX9 NR0B1 DMRT2 DMRT1
40 male infertility 30.2 SRY MT-ATP6 FSHR DMRT1 AMH
41 ovarian disease 30.1 GDF9 FSHR FOXL2 BMP15 AMH
42 fanconi anemia, complementation group a 30.0 PSMC3IP GDF9 FSHR FOXL2 BMP15
43 disorder of sexual development 30.0 ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1
44 polycystic ovary syndrome 30.0 GDF9 FSHR BMP15 AMH
45 persistent mullerian duct syndrome 29.7 ZFPM2 WT1 SOX9 NR5A1 NR0B1 MAP3K1
46 ovarian dysgenesis 1 11.8
47 myoectodermal gonadal dysgenesis syndrome 11.8
48 46,xy gonadal dysgenesis with minifascicular neuropathy 11.8
49 46,xy sex reversal 1 11.7
50 46,xy sex reversal 7 11.6

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

Diseases related to Gonadal Dysgenesis

Symptoms & Phenotypes for Gonadal Dysgenesis

GenomeRNAi Phenotypes related to Gonadal Dysgenesis according to GeneCards Suite gene sharing:

25 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.72 NR5A1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.72 MAP3K1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.72 CBX2 MAP3K1 NR5A1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.72 CBX2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.72 BMP15
6 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.72 MAP3K1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.72 NR5A1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.72 NR5A1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-187 9.72 CBX2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-193 9.72 CBX2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.72 NR5A1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.72 MAP3K1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.72 CBX2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.72 CBX2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-28 9.72 CBX2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.72 NR5A1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.72 MAP3K1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.72 BMP15
19 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.72 MAP3K1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.72 MAP3K1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.72 BMP15 MAP3K1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.72 CBX2

MGI Mouse Phenotypes related to Gonadal Dysgenesis:

# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.07 AMH DHH FOXL2 FSHR GDF9 MAP3K1
2 endocrine/exocrine gland MP:0005379 10.03 AMH BMP15 CBX2 DHH DMRT1 FOXL2
3 cellular MP:0005384 9.73 BMP15 CBX2 DMRT1 FOXL2 FSHR MAP3K1
4 reproductive system MP:0005389 9.53 AMH BMP15 CBX2 DHH DMRT1 DMRT2

Drugs & Therapeutics for Gonadal Dysgenesis

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

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
Polyestradiol phosphate Approved Phase 4 28014-46-2
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
4 Estrogens Phase 4
5 Estradiol 3-benzoate Phase 4
6 Estradiol 17 beta-cypionate Phase 4
7 Hormones Phase 4
8 Hormone Antagonists Phase 4
Ethinylestradiol Approved Phase 3 57-63-6 5991
Oxandrolone Approved, Investigational Phase 3 53-39-4 5878
Medroxyprogesterone acetate Approved, Investigational Phase 3 520-85-4, 71-58-9 6279 10631
12 Contraceptive Agents Phase 3
13 Antineoplastic Agents, Hormonal Phase 3
14 Contraceptives, Oral, Hormonal Phase 3
15 Contraceptives, Oral Phase 3
16 Contraceptive Agents, Male Phase 3
17 Anabolic Agents Phase 2
Norethisterone Approved 68-22-4 199472 6230
Racepinephrine Approved, Vet_approved 51-43-4, 329-65-7 838 5816
Prasterone Approved, Investigational, Nutraceutical 53-43-0 5881
21 Trisequens
Norethindrone Acetate 541197
23 Liver Extracts
24 Androgens
25 Epinephryl borate
26 Follicle Stimulating Hormone
27 DHEA (Dehydroepiandrosterone)
28 Insulin, Globin Zinc

Interventional clinical trials:

(show top 50) (show all 90)
# Name Status NCT ID Phase Drugs
1 Estrogen Dosing in Turner Syndrome:Pharmacology & Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
2 A Multi-center, Open, Single-arm, Switch-over, Prospective, Phase IV Study to Assess the Ease of Use, Preference, and Safety After 8 Weeks Subcutaneous Administration of EutropinPen Inj. in Patients Pretreated With Recombinant Human Growth Hormone by Reusable Device Completed NCT03015909 Phase 4 Somatropin
3 Collaborative Study to Assess the Effects of Treatment With Recombinant Growth Hormone Saizen® in the Prevention of Short Stature in Young Girls Suffering From Turner Syndrome Before the Age of 4 Years. Original French Title: Etude Collaborative Pour apprécier Les Effets du Traitement Par l'Hormone de Croissance Recombinante SAIZEN® Dans le Retard de Croissance de la Fillette Atteinte de Syndrome de Turner Avant l'âge de 4 Ans Completed NCT01066052 Phase 4 r-hGH
4 The Growth of Genitalia Interna and the Bone Mineralization Under Hormonal Replacement Therapy and the Presence of Aortic Root Dilatation in Girls With Turner Syndrome Completed NCT00134745 Phase 4 estradiol
5 Effect of Early Growth Hormone Treatment on Long-term Growth and Skeletal Maturation in Girls With Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
6 A Phase IV Open-label Study of Predictive Markers in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen
7 Dose Response Trial of Biosynthetic Authentic Human Growth Hormone and Induction of Puberty With 17b Oestradiol in Girls With Turner's Syndrome Completed NCT01518062 Phase 4 somatropin;oestrogen
8 Growth Response in Girls With Turner Syndrome During a Three-year GH Treatment Comparing Two Dose Regimens. Identification of Predictive Factors of Growth Response Completed NCT01734486 Phase 4 somatropin
9 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
10 Assessment of the Ease of Use of Norditropin NordiFlex® Relative to the One of the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
11 The Effect of Recombinant Human Growth Hormone Treatment on the Growth of Infants and Toddlers With Turner Syndrome Completed NCT00406926 Phase 3 Somatropin
12 Estrogen Replacement in Hypogonadal Girls Treated With GH: Differential Effects of Mode of Estrogen Delivery Completed NCT00140998 Phase 3 17 beta estradiol
13 Humatrope Treatment to Final Height in Turner's Syndrome Completed NCT00191113 Phase 3 Somatropin;Ethinyl estradiol;Medroxyprogesterone acetate
14 The Effects of Androgen, Estrogen, and the Combination of Androgen and Estrogen on Growth Rate and Cognitive Function of Growth Hormone-treated Girls With Turner Syndrome Completed NCT00029159 Phase 3 estrogen;androgen
15 An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG (Recombinant Somatropin) Administered by ZomaJet Vision X Completed NCT00250250 Phase 3 ZOMACTON
16 Phase IIIB, International, Single Group, Open Study to Define an Optimal Monitoring of IGF-1 in Children Treated With NutropinAq, Using a Novel Capillary Blood Collection Method Completed NCT00234533 Phase 3 Somatropin (rDNA origin)
17 The Use of Norditropin® in Turner's Syndrome Completed NCT01518036 Phase 3 somatropin
18 An Open, Multi-Centre Trial Evaluating Acceptance of the New Liquid Growth Hormone Formulation - Norditropin Simplexx™ in Children With GH Deficiency Completed NCT01563926 Phase 3 somatropin
19 Induction of Puberty With 17-Beta Estradiol in Girls With Turner Syndrome. An Open Randomized Trial Completed NCT01710696 Phase 3 17-beta estradiol
20 Phase III Clinical Trial for Assessment of Efficacy and Safety of DA-3002 (Recombinant Human Growth Hormone) in Patients With Turner's Syndrome Completed NCT01813630 Phase 3 DA-3002;Genotropin®
21 A Study Comparing the Effect and Safety of Once Weekly Dosing of Somapacitan With Daily Norditropin® as Well as Evaluating Long-term Safety of Somapacitan in a Basket Study Design in Children With Short Stature Either Born Small for Gestational Age or With Turner Syndrome, Noonan Syndrome, or Idiopathic Short Stature Recruiting NCT05330325 Phase 3 Somapacitan;Norditropin®
22 A Phase 2 Study of Pegylated Recombinant Human Growth Hormone Injection to Treat Children of Turner Syndrome Unknown status NCT03189160 Phase 2
23 A Double-Blind, Randomized, Placebo-Controlled Trial of the Effect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients With Turner Syndrome Completed NCT00001221 Phase 2 Growth Hormone (Humatrope)
24 Estrogen Effects on Cognition in Girls With Turner Syndrome Completed NCT00001253 Phase 2
25 Turner Syndrome: Hormone Replacement Therapy Completed NCT00013546 Phase 2 TMTDS
26 Phase II Randomized Study of Oxandrolone vs Placebo for Growth Hormone-Treated Girls With Turner's Syndrome Completed NCT00004275 Phase 2 growth hormone;oxandrolone
27 The Relative Effects of Androgen, Estrogen, and the Combination of Androgen and Estrogen on Growth Rate, GH Binding Protein, IGF-I, and Cognitive Function in Growth Hormone-Treated Girls With Turner Syndrome Completed NCT00001343 Phase 2 Humatrope;Oxandrolone
28 Initiating Transdermal Estradiol Therapy in Turner's Syndrome Terminated NCT00870220 Phase 1 Norditropin, Menostar 14mcg patch, Vivelle dot 25mcg patch
29 Neuropsychological Assessment of Children and Adolescents With Turner Syndrome Unknown status NCT03812913
30 Prospective Characterization of the Heart, Aorta and Blood Pressure in Women With Turner Syndrome. Association With Aortic Dissection. Unknown status NCT01678274
31 National Collaborative Study of Girls Prenatally Diagnosed With Turner Syndrome Karyotypes Unknown status NCT01668251
32 The Risk of Venous Thrombosis in Women With Turner Syndrome Unknown status NCT00594763
33 Long Term Follow-up of Bone Mineral Density in Hormone Treated Turner Syndrome Unknown status NCT00625001
34 Aortic Dimensions, 24hour Ambulatory Blood Pressure and Sympathovagal Tone in Turner Syndrome. In Relation to Aortic Dilatation and Dissection. Unknown status NCT00624949
35 Whole Blood Specimen Collection From Pregnant Subjects Unknown status NCT02430584
36 Variability of Uterine and Breast Development in Response to Exogenous Oestrogen During Induction of Puberty in Individuals With Hypogonadism. Unknown status NCT02871986 Routine transdermal oestrogen patch
37 Observational Long-term Follow-up of the Phase IV Open-label Trial of Predictive Markers in GHD and TS Pre-pubertal Children Treated With Saizen Completed NCT00699855
38 Social Cognition and Turner Syndrome Completed NCT01687842
39 Ocular Impact of X Chromosome Karyotype and Sex Hormones in Turner Syndrome Completed NCT00471731
40 Evaluation of Convenience and Compliance of the Easypod™ Electronic Self-injector When Administering Saizen® Growth Hormone to Children With Growth Disorders Completed NCT00738205
41 Quantitative Liver Functions in Turner Syndrome With and Without Hormone Replacement Therapy Completed NCT00825617 Hormone replacement therapy
42 D3-Growth Hormone Receptor Polymorphism and Total Effect of Recombinant Human Growth Hormone on Growth in Girls With Turner Syndrome Completed NCT00443144 recombinant human growth hormone
43 Growth Hormone Treatment of Women With Turner Syndrome: Body Composition and Heart Function. Completed NCT00420654 Growth Hormone;Placebo
44 X-chromosome Inactivation, Epigenetics and the Transcriptome Completed NCT01678261
45 A Multicentre, Open Label, Non-interventional Study to Evaluate on Long-term Safety and Efficacy of Norditropin® Formulation in Child Patients With GHD or Turner Short Stature Without Closure of Epiphyseal Discs. Completed NCT01604161 somatropin
46 Sex Differences in Early Brain Development; Brain Development in Turner Syndrome Completed NCT00877942
47 Controlled Study of Estrogen Effects on Cognitive and Social Function in Girls With Turner's Syndrome Completed NCT00004274 Estrogen
48 Pilot Study of Health, Fitness, and Quality of Life in Adolescent Girls With Turner Syndrome Completed NCT03181230
49 Characterization of Subjects With Turner Syndrome Treated With Growth Hormone in the National Cooperative Growth Study (NCGS) Completed NCT00097552
50 Bone Mineral Density in Adolescent Subjects With Growth Hormone Deficiency Who Are Completing Treatment With Nutropin AQ, Nutropin, or Protropin in the National Cooperative Growth Study (NCGS) Completed NCT00097526

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

Organs/tissues related to Gonadal Dysgenesis:

MalaCards : Cortex, Bone, Liver, Whole Blood, Heart, Brain, Testis

Publications for Gonadal Dysgenesis

Articles related to Gonadal Dysgenesis:

(show top 50) (show all 2544)
# Title Authors PMID Year
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants. 62
36082874 2022
Genomics of sexual cell fate transdifferentiation in the mouse gonad. 62
36200842 2022
Steroidogenic factor 1 (NR5A1) induces multiple transcriptional changes during differentiation of human gonadal-like cells. 62
36114074 2022
A conserved function of Human DLC3 and Drosophila Cv-c in testis development. 62
36326091 2022
Bilateral Gonadoblastoma in a 6-Year-old Girl With Frasier Syndrome: Need for Early Preventive Gonadectomy. 62
35700406 2022
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination. 62
36349847 2022
Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case. 62
36430887 2022
Fertility in Individuals with Differences in Sex Development: Provider Knowledge Assessment. 62
35296452 2022
Sex dimorphism of weight and length at birth: evidence based on disorders of sex development. 62
36218438 2022
WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review. 62
35211794 2022
Two Sisters with Kallmann Syndrome, Gonadal Dysgenesis, and Multiple Neuromuscular and Endocrine Disorders: Report of Two Cases with Description of an Unusual Association. 62
35199317 2022
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis. 62
36227713 2022
Novel mutation of MAP3K1 gene in 46,XY DSD with complete gonadal dysgenesis. 62
36088066 2022
Stem Cells and Organs-on-chips: New Promising Technologies for Human Infertility Treatment. 62
34967858 2022
Effects of genomic instability in populations of Drosophila melanogaster from regions of Ukraine with different impact of radiation factors. 62
35930480 2022
Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated to 46,XY Gonadal Dysgenesis. 62
35984215 2022
Adnexal Torsion Due to Borderline Mucinous Tumor of the Gonad in a Prepubertal Girl with Mixed Gonadal Dysgenesis (45,X/46,XY) and a Turner Phenotype. 62
35045325 2022
Neovaginoplasty with tilapia fish skin: a series of eleven cases. 62
35312805 2022
MYRF: A New Regulator of Cardiac and Early Gonadal Development-Insights from Single Cell RNA Sequencing Analysis. 62
36013096 2022
Etiology and Secular Trends in Primary Amenorrhea in 856 Patients: A 17-Year Retrospective Multicenter Study in Korea. 62
35880506 2022
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol). 62
35821070 2022
Dysgerminoma in a 15 years old phenotypically female Swyer syndrome with 46, XY pure gonadal dysgenesis: A case report. 62
35846908 2022
Surgical disorders in pediatric and adolescent gynecology: Vaginal and uterine anomalies. 62
35880405 2022
Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency. 62
35134173 2022
46, XY Disorders of Sexual Development: a case report and theoretical framework. 62
35666121 2022
Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism 62
34544220 2022
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development. 62
35134971 2022
A Successful New Case of Twin Pregnancy in a Patient with Swyer Syndrome-An Up-to-Date Review on the Incidence and Outcome of Twin/Multiple Gestations in the Pure 46,XY Gonadal Dysgenesis. 62
35564421 2022
The radiologist's role in assessing differences of sex development. 62
34355264 2022
A rare case of ovarian gonadoblastoma flourishing into malignant mixed germ cell tumour with review of literature. 62
35402135 2022
Disorders of sexual development in the cat: Current state of knowledge and diagnostic approach. 62
35209773 2022
Masculinizing surgery in disorders/differences of sex development: clinician- and participant-evaluated appearance and function. 62
33587786 2022
Sexual Function in Women With Differences of Sex Development or Premature Loss of Gonadal Function. 62
34895859 2022
Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report. 62
35123446 2022
Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis. 62
34750818 2022
A rare case of 46,XX gonadal dysgenesis, Mayer-Rokitansky-Kuster-Hauser syndrome, pituitary and thyroid hypoplasia. 62
35142292 2022
Unusual combination of acute aortic dissection, Mayer-Rokitansky-Küster-Hauser syndrome, and 46,XX gonadal dysgenesis: A case report. 62
36440024 2022
Pathogenic Variants in MAP3K1 Cause 46,XY Gonadal Dysgenesis: A Review. 62
35290982 2022
MAP3K1 Variant Causes Hyperactivation of Wnt4/β-Catenin/FOXL2 Signaling Contributing to 46,XY Disorders/Differences of Sex Development. 62
35309143 2022
Case Report: Novel Compound Heterozygotic Variants in PPP2R3C Gene Causing Syndromic 46, XY Gonadal Dysgenesis and Literature Review. 62
35812758 2022
A Small Supernumerary Xp Marker Chromosome Including Genes NR0B1 and MAGEB Causing Partial Gonadal Dysgenesis and Gonadoblastoma. 62
34510040 2022
Genetics of 46,XY gonadal dysgenesis. 62
35249806 2022
DMRT1: An Ancient Sexual Regulator Required for Human Gonadogenesis. 62
34515237 2022
45,X/46,XY Mosaicism with Male Phenotype: Case Report. 62
34929697 2022
Hereditary Gynecologic Cancer Syndromes - A Narrative Review. 62
35422633 2022
DHX37 and 46,XY DSD: A New Ribosomopathy? 62
35835064 2022
A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis. 62
35045414 2022
Case Report: Long-term follow-up of desert hedgehog variant caused 46, XY gonadal dysgenesis with multiple complications in a Chinese child. 62
36072668 2022
Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant. 62
35865014 2022
A 15-20-year follow-up of mental health, psychosocial functioning and quality of life in a single center sample of individuals with differences in sex development. 62
36105256 2022

Variations for Gonadal Dysgenesis

ClinVar genetic disease variations for Gonadal Dysgenesis:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-TE NC_012920.1(MT-TE):m.14724G>A SNV Pathogenic
805947 rs1603224846 GRCh37: MT:14724-14724
GRCh38: MT:14724-14724
2 MT-ATP6 NC_012920.1(MT-ATP6):m.9049G>A SNV Likely Pathogenic
693064 rs1603222011 GRCh37: MT:9049-9049
GRCh38: MT:9049-9049
3 WT1 NM_024426.6(WT1):c.1321G>C (p.Asp441His) SNV Uncertain Significance
1683718 GRCh37: 11:32414245-32414245
GRCh38: 11:32392699-32392699

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 chromatin GO:0000785 9.53 ZFPM2 SRY SOX9 NR5A1 NR0B1 FOXL2

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.49 ZFPM2 WT1 SRY SOX9 NR5A1 FOXL2
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.46 ZFPM2 WT1 SRY SOX9 NR0B1 FOXL2
3 positive regulation of DNA-templated transcription GO:0045893 10.35 FOXL2 NR5A1 PSMC3IP SOX9 SRY WT1
4 cell differentiation GO:0030154 10.32 ZFPM2 SRY SOX9 FOXL2 DMRT1 CBX2
5 male gonad development GO:0008584 10.17 DMRT1 FSHR NR0B1 NR5A1 SOX9 WT1
6 ovarian follicle development GO:0001541 10.02 FSHR FOXL2 BMP15 AMH
7 adrenal gland development GO:0030325 10 WT1 NR5A1 NR0B1
8 female gamete generation GO:0007292 9.99 GDF9 FSHR BMP15
9 Leydig cell differentiation GO:0033327 9.97 NR5A1 NR0B1 DHH AMH
10 female gonad development GO:0008585 9.95 FOXL2 FSHR NR5A1
11 gonad development GO:0008406 9.95 WT1 NR0B1 FSHR AMH
12 negative regulation of female gonad development GO:2000195 9.93 ZFPM2 WT1 NR5A1
13 Sertoli cell differentiation GO:0060008 9.92 DMRT1 NR0B1 NR5A1 SOX9
14 regulation of steroid biosynthetic process GO:0050810 9.9 NR5A1 DHH
15 Sertoli cell development GO:0060009 9.89 DMRT1 FSHR SOX9
16 gonadal mesoderm development GO:0007506 9.88 AMH ZFPM2
17 sex differentiation GO:0007548 9.81 SRY DMRT2 DMRT1 CBX2 AMH
18 sex determination GO:0007530 9.8 WT1 NR5A1 NR0B1 AMH
19 oocyte growth GO:0001555 9.71 GDF9 FOXL2
20 male sex determination GO:0030238 9.7 DHH DMRT1 NR0B1 NR5A1 SOX9 SRY
21 positive regulation of male gonad development GO:2000020 9.4 ZFPM2 WT1 SRY SOX9 NR5A1 DMRT1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.03 ZFPM2 WT1 SRY SOX9 PSMC3IP NR5A1
2 sequence-specific DNA binding GO:0043565 9.28 WT1 SOX9 NR5A1 FOXL2 DMRT2 DMRT1
3 type I activin receptor binding GO:0070698 9.26 GDF9 BMP15

Sources for Gonadal Dysgenesis

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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