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MCID: GND004
MIFTS: 51

Gonadal Dysgenesis

Categories: Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases, Skin diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Gonadal Dysgenesis

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MalaCards integrated aliases for Gonadal Dysgenesis:

Name: Gonadal Dysgenesis 12 77 54 30 45 15 74
Gonadal Dysgenesis Syndrome 12
Turner Syndrome 74

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Endocrine diseases Skin diseases Reproductive diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:14447
ICD9CM 36 758.6
MeSH 45 D006059
NCIt 51 C61420
SNOMED-CT 69 38804009
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Summaries for Gonadal Dysgenesis

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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 sex reversal 1. An important gene associated with Gonadal Dysgenesis is DHH (Desert Hedgehog Signaling Molecule), and among its related pathways/superpathways is Ovarian Infertility Genes. The drugs Lenograstim and Sargramostim have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and ovary, and related phenotypes are endocrine/exocrine gland and homeostasis/metabolism

Wikipedia : 77 Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system in... more...

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Related Diseases for Gonadal Dysgenesis

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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 179)
# Related Disease Score Top Affiliating Genes
1 mixed gonadal dysgenesis 34.0 AMH DHH FOXL2 SOX9 SRY
2 46,xy sex reversal 1 33.9 SOX9 SRY
3 46,xy partial gonadal dysgenesis 32.7 DHH MAP3K1 NR0B1 NR5A1 SOX9 SRY
4 46 xy gonadal dysgenesis 32.4 C2orf80 DHH DMRT1 MAP3K1 NR0B1 NR5A1
5 frasier syndrome 31.7 AMH FGF9 NR5A1 SOX9 SRY WT1
6 46,xx sex reversal 1 31.7 BMP15 FSHR NR0B1 NR5A1 PSMC3IP SOX9
7 gonadoblastoma 31.2 FOXL2 SOX9 SRY WT1
8 hermaphroditism 31.0 SOX9 SRY
9 pseudohermaphroditism 30.6 AMH NR5A1 SRY WT1
10 premature ovarian failure 1 30.4 AMH BMP15 FOXL2 FSHR GDF9 NR5A1
11 androgen insensitivity syndrome 30.3 NR5A1 SHBG SRY
12 hypospadias 30.0 NR5A1 SOX9 SRY WT1
13 amenorrhea 29.9 BMP15 FSHR NR5A1 SHBG SRY
14 46 xx gonadal dysgenesis 12.6
15 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 12.6
16 45,x/46,xy mixed gonadal dysgenesis 12.4
17 alopecia universalis congenita, xy gonadal dysgenesis, and laryngomalacia 12.4
18 gonadal dysgenesis, xy type, with associated anomalies 12.3
19 ovarian dysgenesis 1 12.3
20 46,xx gonadal dysgenesis epibulbar dermoid 12.2
21 turner syndrome 11.9
22 46,xy sex reversal 4 11.9
23 46,xy sex reversal 3 11.7
24 46,xy sex reversal 7 11.6
25 denys-drash syndrome 11.6
26 perrault syndrome 11.6
27 muscular dystrophy, congenital, with infantile cataract and hypogonadism 11.5
28 perrault syndrome 1 11.5
29 46,xy sex reversal 5 11.4
30 46,xy sex reversal 6 11.4
31 46,xy sex reversal 10 11.3
32 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis 11.2
33 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis 11.2
34 campomelic dysplasia 11.1
35 genitopalatocardiac syndrome 11.1
36 testicular regression syndrome 11.1
37 ovarian dysgenesis 2 11.1
38 chondrodysplasia-pseudohermaphroditism syndrome 11.1
39 ovarian dysgenesis 3 11.1
40 ovarian dysgenesis 4 11.1
41 ovarian dysgenesis 5 11.1
42 ovarian dysgenesis 6 11.1
43 ovarian dysgenesis 7 11.1
44 ovarian dysgenesis 8 11.1
45 dysgerminoma 10.6
46 anorexia nervosa 10.4
47 anorchia 10.3 NR5A1 SRY
48 46, xy disorders of sexual development 10.3
49 uterine hypoplasia 10.3 BMP15 PSMC3IP
50 mayer-rokitansky-kuster-hauser syndrome 10.3

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



Diseases related to Gonadal Dysgenesis
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Symptoms & Phenotypes for Gonadal Dysgenesis

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MGI Mouse Phenotypes related to Gonadal Dysgenesis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10 AMH BMP15 DHH DMRT1 FGF9 FOXL2
2 homeostasis/metabolism MP:0005376 9.77 AMH DHH FGF9 FOXL2 FSHR GDF9
3 reproductive system MP:0005389 9.47 AMH BMP15 DHH DMRT1 FGF9 FOXL2
Sources

Drugs & Therapeutics for Gonadal Dysgenesis

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

(show top 50) (show all 109)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 4 135968-09-1
2
Sargramostim Approved, Investigational Phase 4 123774-72-1, 83869-56-1
3
Polyestradiol phosphate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 28014-46-2
4
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-28-2 5757
5
Progesterone Approved, Vet_approved Phase 4,Phase 3,Not Applicable,Early Phase 1 57-83-0 5994
6
Norethindrone Approved Phase 4,Not Applicable 68-22-4 6230
7
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Not Applicable 57-63-6 5991
8
Ganirelix Approved Phase 4 123246-29-7, 124904-93-4 25081094
9
Vitamin C Approved, Nutraceutical Phase 4,Phase 3 50-81-7 5785 54670067
10
Lactitol Investigational Phase 4 585-86-4, 585-88-6 493591
11 Deslorelin Investigational, Vet_approved Phase 4 57773-65-6
12 Adjuvants, Immunologic Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
13 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
15 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
16 Hormones Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
17 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
18 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
19 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
20 Contraceptive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21 Contraceptives, Oral Phase 4,Phase 3,Phase 2,Not Applicable
22 Norethindrone Acetate Phase 4,Not Applicable
23 Norinyl Phase 4
24 Norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination Phase 4
25 Progestins Phase 4,Phase 3,Not Applicable,Early Phase 1
26 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1
27 Luteolytic Agents Phase 4
28 Triptorelin Pamoate Phase 4
29
Oxandrolone Approved, Investigational Phase 3,Phase 2,Phase 1 53-39-4 5878
30
Testosterone undecanoate Approved, Investigational Phase 3,Phase 1,Phase 2 5949-44-0
31
Methyltestosterone Approved Phase 3,Phase 1,Phase 2 58-18-4 6010
32
Testosterone Approved, Experimental, Investigational Phase 3,Phase 2,Phase 1 58-22-0, 481-30-1 6013 10204
33
Testosterone enanthate Approved Phase 3,Phase 1,Phase 2 315-37-7 9416
34
Medroxyprogesterone acetate Approved, Investigational Phase 3,Phase 2 71-58-9
35
Metronidazole Approved Phase 3 443-48-1 4173
36
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838
37
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
38
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1 53-43-0 9860744
39 Anabolic Agents Phase 3,Phase 2,Phase 1
40 Androgens Phase 3,Phase 2,Phase 1
41 Protective Agents Phase 3
42 Testosterone 17 beta-cypionate Phase 3,Phase 1,Phase 2
43 Micronutrients Phase 3,Phase 1
44 Estrogens, Conjugated (USP) Phase 3,Phase 1,Not Applicable
45 Trace Elements Phase 3,Phase 1
46 Vitamins Phase 3,Phase 2,Phase 1
47 Nutrients Phase 3,Phase 1
48 Antioxidants Phase 3
49
Medroxyprogesterone Phase 3,Phase 2 520-85-4 10631
50 Contraceptive Agents, Male Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 170)
# Name Status NCT ID Phase Drugs
1 Filgrastim for Premature Ovarian Insufficiency Unknown status NCT02783937 Phase 4 Saline
2 Effects of ADSC Therapy in Women With POF Unknown status NCT01853501 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 r-hGH
4 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
5 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4 estradiol
6 Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
7 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
8 Growth Response in Girls With Turner Syndrome Completed NCT01734486 Phase 4 somatropin;somatropin
9 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
10 Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome Completed NCT01518062 Phase 4 somatropin;somatropin;somatropin;oestrogen
11 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Completed NCT03015909 Phase 4 Somatropin
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 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)
15 Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure Not yet recruiting NCT03535480 Phase 4 G-CSF
16 The Effect of Androgen and Growth Hormone on Height and Learning in Girls With Turner Syndrome Completed NCT00029159 Phase 3 estrogen;androgen
17 The Effect of Growth Hormone in Very Young Girls With Turner Syndrome Completed NCT00406926 Phase 3 Somatropin
18 Somatropin Treatment to Final Height in Turner Syndrome Completed NCT00191113 Phase 3 Somatropin;Ethinyl estradiol;Medroxyprogesterone acetate
19 Use of Somatropin in Turner Syndrome Completed NCT01518036 Phase 3 somatropin;somatropin
20 Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome Completed NCT01710696 Phase 3 17-beta estradiol;17-beta estradiol
21 A Clinical Study to Assess the Efficacy and Safety of DA-3002 Completed NCT01813630 Phase 3 DA-3002;Genotropin®
22 Estrogen Treatment (Oral vs. Patches) in Turner Syndrome Completed NCT00140998 Phase 3 17 beta estradiol
23 An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG Completed NCT00250250 Phase 3 ZOMACTON
24 Somatropin Treatment in Patients With SHOX Deficiency and Turner Syndrome Completed NCT00190658 Phase 3 Somatropin (rDNA origin) for injection
25 Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq Completed NCT00234533 Phase 3 Somatropin (rDNA origin)
26 Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT01563926 Phase 3 somatropin
27 Primary Ovarian Insufficiency: Phenotype and Optimal Treatment Recruiting NCT03568708 Phase 3 Transdermal Estrogen
28 Study of Oral Dehydroepiandrosterone(DHEA) to Treat Previously Unexplained Infertility Terminated NCT00650754 Phase 2, Phase 3
29 Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF) Terminated NCT00948857 Phase 2, Phase 3
30 Effect of Exercise and Phytoestrogen on Bone, Metabolic Syndrome Criteria and Complaints of the Early Menopause Terminated NCT00663104 Phase 3
31 Hormone Replacement for Premature Ovarian Insufficiency Withdrawn NCT02922348 Phase 3 Hormone Replacement Therapy;Combined Oral Contraceptives
32 Human Umbilical Cord Mesenchymal Stem Cells (HUC-MSCs) Transplantation in Women With Primary Ovarian Insufficiency (POI) Unknown status NCT03033277 Phase 1, Phase 2
33 Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure Unknown status NCT02043743 Phase 1, Phase 2
34 Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF Unknown status NCT02644447 Phase 1, Phase 2
35 Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF) Unknown status NCT02603744 Phase 1, Phase 2
36 Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure Unknown status NCT02062931 Phase 1, Phase 2
37 Stem Cell Therapy Combined Hormone Replacement Therapy in Patients With Premature Ovarian Failure Unknown status NCT01742533 Phase 1, Phase 2 Hormone Replacement Therapy
38 Chinese Medicine(Hu Yang Yang Kun Formula) for Primary Ovarian Insufficiency Completed NCT02794948 Phase 1, Phase 2
39 The Effects of Estrogen on Cognition in Girls With Turner Syndrome Completed NCT00001253 Phase 2
40 Effect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients With Turner Syndrome Completed NCT00001221 Phase 2 Growth Hormone (Humatrope)
41 Oxandrolone Compared With a Placebo on Growth Rate in Girls With Growth Hormone-Treated Turner's Syndrome Completed NCT00004275 Phase 2 growth hormone;oxandrolone
42 The Effects of Hormones in Growth Hormone-Treated Girls With Turner Syndrome Completed NCT00001343 Phase 2 Humatrope;Oxandrolone
43 Hormone Replacement Therapy to Treat Turner Syndrome Completed NCT00013546 Phase 2 TMTDS
44 "It is a Real" The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure Completed NCT02372474 Phase 1, Phase 2
45 Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure Completed NCT02151890 Phase 1, Phase 2
46 GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients Completed NCT00429494 Phase 2 Leuprolide Acetate
47 Hormone Replacement in Young Women With Premature Ovarian Failure Completed NCT00001951 Phase 2 TMTDS
48 A Study of PEG-somatropin Injection to Treat Children of Turner Syndrome Recruiting NCT03189160 Phase 2
49 Effect of Testosterone Treatment on Embryo Quality Recruiting NCT01662466 Phase 1, Phase 2 Testosterone cream (0.5mg per gram);Placebo
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

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Genetic Tests for Gonadal Dysgenesis

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Genetic tests related to Gonadal Dysgenesis:

# Genetic test Affiliating Genes
1 Gonadal Dysgenesis 30
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Anatomical Context for Gonadal Dysgenesis

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MalaCards organs/tissues related to Gonadal Dysgenesis:

42
Bone, Testes, Ovary, Brain, Bone Marrow, Liver, Breast
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Publications for Gonadal Dysgenesis

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Articles related to Gonadal Dysgenesis:

(show top 50) (show all 874)
# Title Authors Year
1
Is interstitial 8p23 microdeletion responsible of 46,XY gonadal dysgenesis? One case report from birth to puberty. ( 30690934 )
2019
2
PPP2R3C Gene Variants Cause Syndromic 46,XY Gonadal Dysgenesis and Impaired Spermatogenesis in Humans. ( 30893644 )
2019
3
A de novo frameshift mutation of the SRY gene leading to a patient with 46,XY complete gonadal dysgenesis. ( 30785124 )
2019
4
Gene dosage of DAX-1, determining in sexual differentiation: duplication of DAX-1 in two sisters with gonadal dysgenesis. ( 30879272 )
2019
5
Mayer-Rokitansky-Küster-Hauser syndrome with a uterine cervix and normal vagina associated with gonadal dysgenesis in a 46,XX female. ( 30912224 )
2019
6
Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating I^-catenin. ( 29095481 )
2018
7
Cognitive abilities in women with complete androgen insensitivity syndrome and women with gonadal dysgenesis. ( 29884451 )
2018
8
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
9
CORRIGENDUM FOR "A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis". ( 29126114 )
2018
10
Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis. ( 29668062 )
2018
11
Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review. ( 29471294 )
2018
12
Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import. ( 29378242 )
2018
13
A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome. ( 29886504 )
2018
14
The Mosaicism Ratio of 45,X May Explain the Phenotype in a Case of Mixed Gonadal Dysgenesis. ( 29879705 )
2018
15
A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis. ( 30032139 )
2018
16
In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis. ( 30298535 )
2018
17
Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis. ( 30624506 )
2018
18
Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14). ( 30647978 )
2018
19
Response to commentary to 'Gonadal dysgenesis in disorders of sex development (DSD): Diagnosis and surgical management'. ( 28153775 )
2017
20
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
21
MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature. ( 28504475 )
2017
22
Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis: a rare presentation. ( 29746049 )
2017
23
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis. ( 28459839 )
2017
24
Normal pelvic ultrasound or MRI does not rule out neoplasm in patients with gonadal dysgenesis and Y chromosome material. ( 29317190 )
2017
25
Clinical heterogeneity in children with gonadal dysgenesis associated with non-mosaic 46,XY karyotype. ( 28434637 )
2017
26
Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization. ( 29190620 )
2017
27
Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis. ( 28787711 )
2017
28
Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis. ( 28867417 )
2017
29
Novel Heterozygous Genetic Variants in Patients with 46,XY Gonadal Dysgenesis. ( 27711951 )
2017
30
Walker-Warburg syndrome with gonadal dysgenesis: A rare association. ( 28488658 )
2017
31
Genetics of Reproductive Aging from Gonadal Dysgenesis through Menopause. ( 28278532 )
2017
32
THE EVALUATION OF CASES WITH Y-CHROMOSOME GONADAL DYSGENESIS: CLINICAL EXPERIENCE FOR 18 YEARS. ( 28825592 )
2017
33
A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis. ( 27007510 )
2016
34
Mixed Gonadal Dysgenesis with an unusual "inverted" Y chromosome. ( 27941186 )
2016
35
A biallelic mutation in the homologous recombination repair gene SPIDR is associated with human gonadal dysgenesis. ( 27967308 )
2016
36
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
37
Clinical Features of 32 Patients with XO/XY Gonadal Dysgenesis. ( 27594153 )
2016
38
Retraction: Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene. ( 27777913 )
2016
39
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
40
A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. ( 28216916 )
2016
41
Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis. ( 27169744 )
2016
42
Commentary to 'Gonadal dysgenesis in disorders of sex development (DSD): Diagnosis and surgical management'. ( 27876298 )
2016
43
Evidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood. ( 27116846 )
2016
44
Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis. ( 28621097 )
2016
45
Imaging Findings in Dysgerminoma in a Case of 46 XY, Complete Gonadal Dysgenesis (Swyer syndrome). ( 27790550 )
2016
46
Early recognition of gonadal dysgenesis in congenital nephrotic syndromea8c. ( 27719739 )
2016
47
Mixed gonadal dysgenesis in YaoundAc: A preliminary experience about three cases. ( 27502884 )
2016
48
Mixed Germ Cell Tumour in a Case of Pure Gonadal Dysgenesis (Swyer Syndrome) - A Case Report. ( 26918227 )
2016
49
NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations. ( 27463801 )
2016
50
Clinical features and management of 33 patients with 46,XX pure gonadal dysgenesis. ( 27250571 )
2016
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Variations for Gonadal Dysgenesis

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Expression for Gonadal Dysgenesis

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Search GEO for disease gene expression data for Gonadal Dysgenesis.
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Pathways for Gonadal Dysgenesis

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Pathways related to Gonadal Dysgenesis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Ovarian Infertility Genes 1
10.3 FSHR GDF9 NR5A1
Sources

GO Terms for Gonadal Dysgenesis

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.61 FOXL2 NR0B1 NR5A1 PSMC3IP SOX9 SPIDR
2 nuclear transcription factor complex GO:0044798 8.62 SOX9 SRY

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.98 AMH FGF9 NR5A1 SOX9 WT1
2 BMP signaling pathway GO:0030509 9.79 AMH BMP15 GDF9
3 regulation of MAPK cascade GO:0043408 9.75 BMP15 FSHR GDF9
4 female gonad development GO:0008585 9.71 FOXL2 FSHR NR5A1
5 sex differentiation GO:0007548 9.7 AMH DMRT1 SRY
6 male gonad development GO:0008584 9.7 DMRT1 FGF9 FSHR NR0B1 NR5A1 SOX9
7 adrenal gland development GO:0030325 9.69 NR0B1 NR5A1 WT1
8 female gamete generation GO:0007292 9.67 BMP15 FSHR GDF9
9 positive regulation of mesenchymal cell proliferation GO:0002053 9.64 FGF9 SOX9
10 tissue development GO:0009888 9.64 NR5A1 WT1
11 uterus development GO:0060065 9.63 FOXL2 FSHR
12 Sertoli cell development GO:0060009 9.63 DMRT1 FSHR SOX9
13 gonad development GO:0008406 9.62 AMH FSHR NR0B1 WT1
14 Leydig cell differentiation GO:0033327 9.61 DHH NR0B1
15 Sertoli cell differentiation GO:0060008 9.61 DMRT1 NR0B1 SOX9
16 gonadal mesoderm development GO:0007506 9.6 AMH ZFPM2
17 regulation of steroid biosynthetic process GO:0050810 9.59 DHH NR5A1
18 oocyte growth GO:0001555 9.56 FOXL2 GDF9
19 sex determination GO:0007530 9.56 AMH NR0B1 NR5A1 WT1
20 negative regulation of female gonad development GO:2000195 9.54 NR5A1 WT1 ZFPM2
21 male sex determination GO:0030238 9.5 DHH DMRT1 FGF9 NR0B1 NR5A1 SOX9
22 transcription by RNA polymerase II GO:0006366 9.32 NR5A1
23 positive regulation of male gonad development GO:2000020 9.1 DMRT1 NR5A1 SOX9 SRY WT1 ZFPM2
24 regulation of transcription, DNA-templated GO:0006355 10.17 DMRT1 FOXL2 NR0B1 NR5A1 SOX9 SRY
25 positive regulation of transcription by RNA polymerase II GO:0045944 10.11 DMRT1 FOXL2 NR5A1 SOX9 SRY WT1
26 negative regulation of transcription by RNA polymerase II GO:0000122 10.09 DMRT1 FGF9 FOXL2 NR0B1 SRY WT1
27 cell differentiation GO:0030154 10.06 AMH DMRT1 FGF9 FOXL2 NR0B1 NR5A1
28 negative regulation of transcription, DNA-templated GO:0045892 10.02 FOXL2 NR0B1 SOX9 WT1 ZFPM2
29 positive regulation of transcription, DNA-templated GO:0045893 10.02 BMP15 FOXL2 NR5A1 SOX9 SRY WT1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.97 DMRT1 FOXL2 NR0B1 NR5A1 PSMC3IP SOX9
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.86 DMRT1 FOXL2 NR0B1 NR5A1 SOX9 SRY
3 DNA-binding transcription factor activity GO:0003700 9.85 DMRT1 FOXL2 NR5A1 SOX9 SRY WT1
4 growth factor activity GO:0008083 9.46 AMH BMP15 FGF9 GDF9
5 sequence-specific DNA binding GO:0043565 9.43 DMRT1 FOXL2 NR0B1 NR5A1 SOX9 WT1
6 transforming growth factor beta receptor binding GO:0005160 8.8 AMH BMP15 GDF9
Sources

Sources for Gonadal Dysgenesis

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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