Gonadal Dysgenesis

Categories: Endocrine diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Gonadal Dysgenesis

MalaCards integrated aliases for Gonadal Dysgenesis:

Name: Gonadal Dysgenesis 12 73 20 29 6 44 15 70
Gonadal Dysgenesis Syndrome 12
Turner Syndrome 70


External Ids:

Disease Ontology 12 DOID:14447
ICD9CM 34 758.6
MeSH 44 D006059
NCIt 50 C61420
SNOMED-CT 67 268356004
UMLS 70 C0018051 C0041408

Summaries for Gonadal Dysgenesis

Disease Ontology : 12 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 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy and mixed gonadal dysgenesis. An important gene associated with Gonadal Dysgenesis is MT-TE (Mitochondrially Encoded TRNA-Glu (GAA/G)). The drugs Polyestradiol phosphate and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and testis, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 73 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 332)
# Related Disease Score Top Affiliating Genes
1 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 33.1 PPP2R3C LOC101927178
2 mixed gonadal dysgenesis 32.8 SRY SOX9 NR5A1 FOXL2 DHH AMH
3 turner syndrome 32.8 SRY NR0B1 BMP15 AMH
4 frasier syndrome 32.7 WT1 SRY SOX9 NR5A1
5 46 xx gonadal dysgenesis 32.7 PSMC3IP NR5A1 FSHR FOXL2 BMP15
6 45,x/46,xy mixed gonadal dysgenesis 32.6 SRY NR0B1 DMRT1 DHH AMH
7 46,xx sex reversal 1 32.5 SRY SOX9 PSMC3IP NR5A1 NR0B1 FSHR
8 denys-drash syndrome 32.5 WT1 NR5A1 NR0B1
9 46,xy sex reversal 32.2 ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1
10 46,xy partial gonadal dysgenesis 31.8 ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1
11 campomelic dysplasia 31.7 SRY SOX9 NR5A1 FOXL2 DMRT2 DMRT1
12 amenorrhea 31.7 NR5A1 FSHR FOXL2 BMP15
13 nivelon-nivelon-mabille syndrome 31.7 WT1 SOX9 NR5A1 NR0B1 MAP3K1 FOXL2
14 46,xx sex reversal 31.5 SRY SOX9 NR5A1 NR0B1 FOXL2 DMRT1
15 hypospadias 31.4 WT1 SRY SOX9 NR5A1
16 gonadoblastoma 31.3 WT1 SRY SOX9 NR5A1 NR0B1 FOXL2
17 anorchia 31.0 SRY NR5A1
18 androgen insensitivity syndrome 30.9 SRY NR5A1 NR0B1 AMH
19 wilms tumor 1 30.8 WT1 SRY SOX9 NR5A1 NR0B1
20 uterine hypoplasia 30.8 PSMC3IP BMP15
21 nonsyndromic disorders of testicular development 30.7 SRY NR5A1 NR0B1 MAP3K1 DMRT1 DHH
22 pseudohermaphroditism 30.7 WT1 SRY SOX9 NR5A1 NR0B1 FSHR
23 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 30.6 WT1 NR5A1 DMRT2 DMRT1 CBX2
24 hermaphroditism 30.5 ZFPM2 SRY SOX9 NR0B1 FOXL2 DMRT2
25 male infertility 30.5 SRY NR5A1 FSHR DMRT1
26 spermatogenic failure 36 30.4 PPP2R3C LOC101927178
27 infertility 30.4 NR5A1 FSHR FOXL2 BMP15 AMH
28 disorder of sexual development 30.4 WT1 SOX9 NR5A1 NR0B1 FSHR FOXL2
29 cryptorchidism, unilateral or bilateral 30.4 ZFPM2 WT1 SOX9 NR5A1 NR0B1 FSHR
30 46,xy sex reversal 2 30.2 WT1 SOX9 NR5A1 NR0B1 FOXL2
31 ovarian disease 30.1 FSHR FOXL2 BMP15 AMH
32 ovarian gonadoblastoma 30.1 WT1 SOX9 NR0B1 DMRT2 DMRT1
33 premature menopause 30.0 WT1 SOX9 PSMC3IP NR5A1 NR0B1 FSHR
34 persistent mullerian duct syndrome 29.7 WT1 SOX9 NR5A1 NR0B1 DMRT1 CBX2
35 ovarian dysgenesis 1 11.7
36 46,xy sex reversal 1 11.7
37 46,xy gonadal dysgenesis with minifascicular neuropathy 11.7
38 perrault syndrome 11.6
39 46,xy sex reversal 7 11.6
40 46,xy sex reversal 4 11.5
41 gonadal dysgenesis, xy type, with associated anomalies 11.4
42 46,xy sex reversal 3 11.4
43 46,xy sex reversal 6 11.4
44 perrault syndrome 1 11.4
45 46,xy sex reversal 5 11.3
46 46,xy sex reversal 10 11.2
47 46,xx gonadal dysgenesis epibulbar dermoid 11.2
48 muscular dystrophy, congenital, with infantile cataract and hypogonadism 11.1
49 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis 11.1
50 alopecia universalis congenita, xy gonadal dysgenesis, and laryngomalacia 11.1

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:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 9.36 CBX2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-102 9.36 MAP3K1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-132 9.36 BMP15
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-138 9.36 BMP15
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-19 9.36 BMP15
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.36 BMP15
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.36 CBX2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.36 BMP15
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-35 9.36 MAP3K1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.36 MAP3K1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-83 9.36 NR5A1

MGI Mouse Phenotypes related to Gonadal Dysgenesis:

# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.77 AMH BMP15 CBX2 DHH DMRT1 FOXL2
2 reproductive system MP:0005389 9.47 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 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Polyestradiol phosphate Approved Phase 4 28014-46-2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
4 Estradiol 17 beta-cypionate Phase 4
5 Estradiol 3-benzoate Phase 4
6 Estrogens Phase 4
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
Medroxyprogesterone acetate Approved, Investigational Phase 3 71-58-9
Oxandrolone Approved, Investigational Phase 3 53-39-4 5878
10 Contraceptive Agents Phase 3
11 Contraceptive Agents, Male Phase 3
Medroxyprogesterone Phase 3 520-85-4 10631
13 Antineoplastic Agents, Hormonal Phase 3
14 Contraceptives, Oral Phase 3
15 Androgens Phase 3
16 Anabolic Agents Phase 2
Norethindrone Approved 68-22-4 6230
18 Norethindrone Acetate
19 Trisequens
20 Hormones
21 Hormone Antagonists
22 Liver Extracts
23 insulin
24 Insulin, Globin Zinc

Interventional clinical trials:

(show top 50) (show all 81)
# 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 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
3 Effect of Early Growth Hormone Treatment on Long-term Growth and Skeletal Maturation in Girls With Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
4 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
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 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;somatropin
7 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;Saizen
8 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;somatropin;somatropin;oestrogen
9 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
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 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)
12 Humatrope Treatment to Final Height in Turner's Syndrome Completed NCT00191113 Phase 3 Somatropin;Ethinyl estradiol;Medroxyprogesterone acetate
13 Estrogen Replacement in Hypogonadal Girls Treated With GH: Differential Effects of Mode of Estrogen Delivery Completed NCT00140998 Phase 3 17 beta estradiol
14 The Effect of Recombinant Human Growth Hormone Treatment on the Growth of Infants and Toddlers With Turner Syndrome Completed NCT00406926 Phase 3 Somatropin
15 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
16 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
17 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®
18 Induction of Puberty With 17-Beta Estradiol in Girls With Turner Syndrome. An Open Randomized Trial Completed NCT01710696 Phase 3 17-beta estradiol;17-beta estradiol
19 The Use of Norditropin® in Turner's Syndrome Completed NCT01518036 Phase 3 somatropin;somatropin
20 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
21 A Phase 2 Study of Pegylated Recombinant Human Growth Hormone Injection to Treat Children of Turner Syndrome Unknown status NCT03189160 Phase 2
22 Estrogen Effects on Cognition in Girls With Turner Syndrome Completed NCT00001253 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 Phase II Randomized Study of Oxandrolone vs Placebo for Growth Hormone-Treated Girls With Turner's Syndrome Completed NCT00004275 Phase 2 growth hormone;oxandrolone
25 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
26 Turner Syndrome: Hormone Replacement Therapy Completed NCT00013546 Phase 2 TMTDS
27 Initiating Transdermal Estradiol Therapy in Turner's Syndrome Terminated NCT00870220 Phase 1 Norditropin, Menostar 14mcg patch, Vivelle dot 25mcg patch
28 National Collaborative Study of Girls Prenatally Diagnosed With Turner Syndrome Karyotypes Unknown status NCT01668251
29 Long Term Follow-up of Bone Mineral Density in Hormone Treated Turner Syndrome Unknown status NCT00625001
30 Aortic Dimensions, 24hour Ambulatory Blood Pressure and Sympathovagal Tone in Turner Syndrome. In Relation to Aortic Dilatation and Dissection. Unknown status NCT00624949
31 Prospective Characterization of the Heart, Aorta and Blood Pressure in Women With Turner Syndrome. Association With Aortic Dissection. Unknown status NCT01678274
32 The Risk of Venous Thrombosis in Women With Turner Syndrome Unknown status NCT00594763
33 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
34 Social Cognition and Turner Syndrome Completed NCT01687842
35 Quantitative Liver Functions in Turner Syndrome With and Without Hormone Replacement Therapy Completed NCT00825617 Hormone replacement therapy
36 Sex Differences in Early Brain Development; Brain Development in Turner Syndrome Completed NCT00877942
37 X-chromosome Inactivation, Epigenetics and the Transcriptome Completed NCT01678261
38 Effect of Growth Hormone on Early Brain Development in Girls With Turner Syndrome Completed NCT01367834 somatotropin
39 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
40 Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome Completed NCT01760668
41 Beta-Cell Function in Young Turner Syndrome Patients Completed NCT02160717
42 Growth Hormone Treatment of Women With Turner Syndrome: Body Composition and Heart Function. Completed NCT00420654 Growth Hormone;Placebo
43 Characterization of Subjects With Turner Syndrome Treated With Growth Hormone in the National Cooperative Growth Study (NCGS) Completed NCT00097552
44 Ocular Impact of X Chromosome Karyotype and Sex Hormones in Turner Syndrome Completed NCT00471731
45 Evaluation De L'Observance Globale Et De La Duree De Traitement Par Zomacton® Avec Le Stylo Transjecteur Zomajet® Etude Pharmaco-Epidemiologique Observationnelle Longitudinale Prospective Completed NCT01306357 Somatropin
46 Turner Syndrome: Genotype and Phenotype Completed NCT00006334
47 Controlled Study of Estrogen Effects on Cognitive and Social Function in Girls With Turner's Syndrome Completed NCT00004274 Estrogen
48 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
49 Neuralgic Amyotrophy: Central Reorganization and Rehabilitation After Peripheral Dysfunction Completed NCT03441347
50 Evaluation of Convenience and Compliance of the Easypod™ Electronic Self-injector When Administering Saizen® Growth Hormone to Children With Growth Disorders Completed NCT00738205

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 29

Anatomical Context for Gonadal Dysgenesis

MalaCards organs/tissues related to Gonadal Dysgenesis:

Bone, Brain, Testis, Pituitary, Thyroid, Kidney, Ovary

Publications for Gonadal Dysgenesis

Articles related to Gonadal Dysgenesis:

(show top 50) (show all 6329)
# Title Authors PMID Year
The contribution of Xp22.31 gene dosage to Turner and Klinefelter syndromes and sex-biased phenotypes. 61
33610733 2021
"Anterior interosseous nerve syndrome (Kiloh Nevin Syndrome) revealing Gantzer muscle and simultaneous myasthenia gravis". 61
33664927 2021
Increased occurrence of liver and gastrointestinal diseases and anaemia in women with Turner syndrome - a nationwide cohort study. 61
33550624 2021
Parsonage-turner syndrome associated with SARS-CoV2 (COVID-19) infection. 61
33190028 2021
Editorial: how relevant are gastro-intestinal and liver abnormalities in individuals with Turner syndrome? 61
33709402 2021
Rare chromosomal abnormalities: Can they be identified using conventional first trimester combined screening methods? 61
33733087 2021
NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance. 61
33296094 2021
Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management. 61
33524610 2021
New approaches to social skills training: Blended group interventions for girls with social communication difficulties. 61
33694323 2021
Chromosomal abnormality: Prevalence, prenatal diagnosis and associated anomalies based on a provincial-wide birth defects monitoring system. 61
33372274 2021
Growth Hormone Treatment at Nippon Medical School Chiba Hokusoh Hospital. 61
32475901 2021
Hypertension in Children and Adolescents with Turner Syndrome (TS), Neurofibromatosis 1 (NF1), and Williams Syndrome (WS). 61
33779870 2021
Association between Down Syndrome and Disorders of Sex Development: Report of Three Cases and Review of 188 Cases in the Literature. 61
33652437 2021
Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility. 61
33712994 2021
Evaluation of Growth Hormone Results in Different Diagnosis and Trend Over 10 Year of Follow up: A Single Center Experience. 61
33749217 2021
Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome. 61
33677455 2021
Chance diagnosis of mixed gonadal dysgenesis in an adult case of malignant gonadal germ cell tumor: a case report. 61
33773600 2021
Misdiagnosis of Mullerian agenesis coexisting with gonadal dysgenesis: A clandestine uterus by estrogen deficiency. 61
33650295 2021
Turner Syndrome: for successful treatment it is necessary to diagnose it early. 61
32623843 2021
Progression of Vasculopathy in Young Individuals with Turner Syndrome. 61
33242100 2021
[Image Findings in Parsonage-Turner Syndrome]. 61
33773516 2021
Karyotype is associated with timing of ovarian failure in women with Turner syndrome. 61
33650387 2021
Reproductive outcomes after preimplantation genetic testing in mosaic Turner syndrome: a retrospective cohort study of 100 cycles. 61
33677746 2021
Anterior interosseous nerve palsy caused by Parsonage-Turner syndrome. 61
33648967 2021
Should we proceed with more caution when considering additional autologous fertility solutions for some patients with classic Turner syndrome? 61
33795139 2021
Outcomes in hospitalisations of women with Turner syndrome compared to women without Turner syndrome. 61
33736722 2021
Ovotesticular disorder of sex development in Korean children: a single-center analysis over a 30-year period. 61
33667640 2021
A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes. 61
33516834 2021
Colchicine in the treatment of refractory aphthous ulcerations: Review of the literature and two case reports. 61
33603888 2021
Mode of delivery of women with Swyer syndrome in a German case series. 61
33725759 2021
Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome. 61
33751331 2021
Fertility-Sparing Methods in Adolescents Affected by Endometrial Cancer: A Comprehensive Review. 61
33801452 2021
Association of thyroid autoimmunity and the response to recombinant human growth hormone in Turner syndrome. 61
33662192 2021
Evaluating transition in Turner syndrome in the West of Scotland. 61
33647195 2021
Prevalence of Otological Disease in Turner Syndrome: A Systematic Review. 61
33625195 2021
Hashimoto's Thyroiditis and Graves' Disease in Genetic Syndromes in Pediatric Age. 61
33557156 2021
Initial experience with a novel ePTFE-covered balloon expandable stent in patients with near-atretic or severe aortic coarctation and small femoral arterial access. 61
33172512 2021
Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype. 61
33616298 2021
Correlation of first-trimester thymus size with chromosomal anomalies. 61
33561911 2021
A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female. 61
33570214 2021
Subsequent menstrual disorder after spontaneous menarche in Turner syndrome. 61
33617655 2021
National survey of primary amenorrhea and relevant conditions in Japan. 61
33331045 2021
Renal morphology and function from childhood to adulthood in Turner syndrome. 61
33616778 2021
Vascular dissection in women with Turner syndrome. 61
33045278 2021
The Unusual Case of Fibroma of Tendon Sheath in a Young Girl with Turner Syndrome Undergoing Growth Hormone Treatment 61
32349463 2021
Influence of Pregnancy on Aortic Diameter in Women With the Turner Syndrome. 61
33144162 2021
The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report. 61
33596986 2021
Health behaviour of women with Turner Syndrome. 61
33615554 2021
The challenge of defining predictive parameters for fertility preservation counseling in young females with Turner syndrome. 61
33554331 2021
Heterogeneity of Karyotypes in Turner Syndrome. 61
32623591 2021

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:m.14724G>A SNV Pathogenic 805947 rs1603224846 GRCh37: MT:14724-14724
GRCh38: MT:14724-14724
2 MT-ATP6 NC_012920.1:m.9049G>A SNV Likely pathogenic 693064 rs1603222011 GRCh37: MT:9049-9049
GRCh38: MT:9049-9049

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 9.65 ZFPM2 WT1 SRY SOX9 PSMC3IP PPP2R3C
2 chromatin GO:0000785 9.28 ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.16 ZFPM2 WT1 SOX9 NR5A1 FOXL2 DMRT2
2 regulation of transcription, DNA-templated GO:0006355 10.14 WT1 SRY SOX9 NR5A1 FOXL2 DMRT2
3 positive regulation of transcription, DNA-templated GO:0045893 10.1 ZFPM2 WT1 SRY SOX9 PSMC3IP NR5A1
4 positive regulation of transcription by RNA polymerase II GO:0045944 10.09 ZFPM2 WT1 SRY SOX9 NR5A1 DMRT2
5 cell differentiation GO:0030154 10.09 ZFPM2 SRY SOX9 NR5A1 NR0B1 FOXL2
6 negative regulation of transcription by RNA polymerase II GO:0000122 10.07 ZFPM2 WT1 SRY SOX9 NR0B1 DMRT1
7 negative regulation of transcription, DNA-templated GO:0045892 10 ZFPM2 WT1 SOX9 NR0B1 FOXL2
8 positive regulation of gene expression GO:0010628 9.98 WT1 SRY SOX9 NR5A1 AMH
9 male gonad development GO:0008584 9.8 WT1 SOX9 NR5A1 NR0B1 FSHR DMRT1
10 ovarian follicle development GO:0001541 9.71 FSHR FOXL2 BMP15
11 adrenal gland development GO:0030325 9.69 WT1 NR5A1 NR0B1
12 gonad development GO:0008406 9.67 WT1 NR0B1 FSHR AMH
13 Sertoli cell development GO:0060009 9.65 SOX9 FSHR DMRT1
14 Sertoli cell differentiation GO:0060008 9.63 SOX9 NR0B1 DMRT1
15 female gonad development GO:0008585 9.62 NR5A1 FSHR
16 female gamete generation GO:0007292 9.61 FSHR BMP15
17 Leydig cell differentiation GO:0033327 9.58 NR0B1 DHH
18 negative regulation of female gonad development GO:2000195 9.58 ZFPM2 WT1 NR5A1
19 regulation of steroid biosynthetic process GO:0050810 9.57 NR5A1 DHH
20 gonadal mesoderm development GO:0007506 9.56 ZFPM2 AMH
21 sex determination GO:0007530 9.56 WT1 NR5A1 NR0B1 AMH
22 sex differentiation GO:0007548 9.55 SRY DMRT2 DMRT1 CBX2 AMH
23 positive regulation of male gonad development GO:2000020 9.43 ZFPM2 WT1 SRY SOX9 NR5A1 DMRT1
24 male sex determination GO:0030238 9.1 SRY SOX9 NR5A1 NR0B1 DMRT1 DHH

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, RNA polymerase II-specific GO:0000981 9.87 WT1 SRY SOX9 NR5A1 FOXL2 DMRT2
2 DNA binding GO:0003677 9.85 ZFPM2 WT1 SRY SOX9 PSMC3IP NR5A1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.8 WT1 SRY SOX9 NR5A1 FOXL2 DMRT2
4 sequence-specific DNA binding GO:0043565 9.43 WT1 SOX9 NR5A1 FOXL2 DMRT2 DMRT1
5 DNA-binding transcription factor activity GO:0003700 9.17 WT1 SRY SOX9 NR5A1 FOXL2 DMRT2

Sources for Gonadal Dysgenesis

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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