MCID: GND004
MIFTS: 50

Gonadal Dysgenesis

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

Aliases & Classifications for Gonadal Dysgenesis

MalaCards integrated aliases for Gonadal Dysgenesis:

Name: Gonadal Dysgenesis 12 76 53 29 44 15 73
Gonadal Dysgenesis Syndrome 12
Turner Syndrome 73

Classifications:



External Ids:

Disease Ontology 12 DOID:14447
ICD9CM 35 758.6
MeSH 44 D006059
NCIt 50 C61420
SNOMED-CT 68 38804009

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 sex reversal 1. An important gene associated with Gonadal Dysgenesis is DHH (Desert Hedgehog). The drugs Lenograstim and Estradiol valerate have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and brain, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 76 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 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 169)
# Related Disease Score Top Affiliating Genes
1 mixed gonadal dysgenesis 34.0 AMH DHH FOXL2 SOX9 SRY
2 46,xy sex reversal 1 33.6 SOX9 SRY
3 46 xy gonadal dysgenesis 33.2 C2orf80 DHH DMRT1 MAP3K1 NR0B1 NR5A1
4 46,xy partial gonadal dysgenesis 32.8 DHH MAP3K1 NR0B1 NR5A1 SOX9 SRY
5 frasier syndrome 31.9 AMH FGF9 NR5A1 SOX9 SRY WT1
6 46,xx sex reversal 1 31.7 BMP15 FSHR NR0B1 NR5A1 PSMC3IP SOX9
7 premature ovarian failure 1 31.5 AMH BMP15 FOXL2 FSHR NR5A1 SRY
8 dysgerminoma 31.1 SRY TSPY1 WT1
9 gonadoblastoma 31.0 FOXL2 SOX9 SRY TSPY1 WT1
10 hermaphroditism 30.7 SOX9 SRY
11 pseudohermaphroditism 30.5 AMH NR5A1 SRY WT1
12 amenorrhea 30.3 BMP15 FSHR NR5A1 SRY
13 hypospadias 29.9 NR5A1 SOX9 SRY WT1
14 sex differentiation disease 29.9 AMH SRY
15 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 12.6
16 46 xx gonadal dysgenesis 12.6
17 45,x/46,xy mixed gonadal dysgenesis 12.4
18 alopecia universalis congenita, xy gonadal dysgenesis, and laryngomalacia 12.3
19 gonadal dysgenesis, xy type, with associated anomalies 12.3
20 46,xx gonadal dysgenesis epibulbar dermoid 12.2
21 ovarian dysgenesis 1 12.0
22 turner syndrome 11.9
23 46,xy sex reversal 4 11.8
24 46,xy sex reversal 3 11.7
25 denys-drash syndrome 11.6
26 46,xy sex reversal 7 11.6
27 perrault syndrome 11.6
28 muscular dystrophy, congenital, with infantile cataract and hypogonadism 11.5
29 perrault syndrome 1 11.4
30 46,xy sex reversal 5 11.3
31 46,xy sex reversal 6 11.3
32 46,xy sex reversal 10 11.3
33 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis 11.2
34 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis 11.2
35 campomelic dysplasia 11.1
36 genitopalatocardiac syndrome 11.1
37 testicular regression syndrome 11.1
38 chondrodysplasia-pseudohermaphroditism syndrome 11.1
39 anorexia nervosa 10.4
40 46, xy disorders of sexual development 10.3
41 wilms tumor 6 10.3
42 hypogonadotropic hypogonadism 10.3
43 mayer-rokitansky-kuster-hauser syndrome 10.3
44 androgen insensitivity syndrome 10.3
45 adenocarcinoma 10.3
46 neuropathy 10.3
47 anorchia 10.2 NR5A1 SRY
48 diabetes mellitus 10.2
49 hypogonadism 10.2
50 germ cells tumors 10.2

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.32 SRY
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.32 SRY
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.32 DMRT1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.32 DMRT1 MAP3K1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.32 DMRT1 MAP3K1 SRY
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.32 MAP3K1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.32 MAP3K1

MGI Mouse Phenotypes related to Gonadal Dysgenesis:

46
# 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 AMH BMP15 DHH DMRT1 FGF9 FOXL2

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
Lenograstim Approved, Investigational Phase 4 135968-09-1
2 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 979-32-8
3
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-28-2 5757
4
Polyestradiol phosphate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 28014-46-2
5
Progesterone Approved, Vet_approved Phase 4,Phase 3,Not Applicable,Early Phase 1 57-83-0 5994
6
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Not Applicable 57-63-6 5991
7
Norethindrone Approved Phase 4,Not Applicable 68-22-4 6230
8
Ganirelix Approved Phase 4 123246-29-7, 124904-93-4 25081094
9
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
10
Lactitol Investigational Phase 4 585-86-4 3871
11 Deslorelin Investigational, Vet_approved Phase 4 57773-65-6
12 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
13 Adjuvants, Immunologic 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 Hormones Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
16 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
17 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
18 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
19 Estradiol 17 beta-cypionate 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 Progestins Phase 4,Phase 3,Not Applicable,Early Phase 1
22 Norinyl Phase 4
23 Contraceptives, Oral Phase 4,Phase 3,Phase 2,Not Applicable
24 Norethindrone acetate Phase 4,Not Applicable
25 Norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination Phase 4
26 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1
27 Triptorelin Pamoate Phase 4
28 Luteolytic Agents Phase 4
29
Oxandrolone Approved, Investigational Phase 3,Phase 2,Phase 1 53-39-4 5878
30
Medroxyprogesterone acetate Approved, Investigational Phase 3,Phase 2 71-58-9
31
Metronidazole Approved Phase 3 443-48-1 4173
32
Norgestimate Approved, Investigational Phase 3 35189-28-7 6540478
33
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838
34
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
35
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1 53-43-0 5881
36 Androgens Phase 3,Phase 2,Phase 1
37 Contraceptive Agents, Male Phase 3,Phase 2
38
Medroxyprogesterone Phase 3,Phase 2 520-85-4 10631
39 DHEA (Dehydroepiandrosterone) Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1
40 Contraceptives, Oral, Combined Phase 3
41 Epinephryl borate Phase 2, Phase 3
42 Black Cohosh Phase 3
43 Phytoestrogens Phase 3
44
Leuprolide Approved, Investigational Phase 2 53714-56-0 657181 3911
45
Testosterone Approved, Investigational Phase 2,Phase 1 58-22-0 6013
46
Testosterone undecanoate Approved, Investigational Phase 1, Phase 2 5949-44-0
47
Methyltestosterone Approved Phase 1, Phase 2 58-18-4 6010
48
Testosterone enanthate Approved Phase 1, Phase 2 315-37-7 9416
49
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
50
rituximab Approved Phase 2 174722-31-7 10201696

Interventional clinical trials:

(show top 50) (show all 167)
# 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 Hormone Replacement for Premature Ovarian Insufficiency Recruiting NCT02922348 Phase 3 Hormone Replacement Therapy;Combined Oral Contraceptives
29 Study of Oral Dehydroepiandrosterone(DHEA) to Treat Previously Unexplained Infertility Terminated NCT00650754 Phase 2, Phase 3
30 Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF) Terminated NCT00948857 Phase 2, Phase 3
31 Effect of Exercise and Phytoestrogen on Bone, Metabolic Syndrome Criteria and Complaints of the Early Menopause Terminated NCT00663104 Phase 3
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 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 Chinese Medicine(Hu Yang Yang Kun Formula) for Primary Ovarian Insufficiency Completed NCT02794948 Phase 1, Phase 2
38 The Effects of Estrogen on Cognition in Girls With Turner Syndrome Completed NCT00001253 Phase 2
39 Effect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients With Turner Syndrome Completed NCT00001221 Phase 2 Growth Hormone (Humatrope)
40 Oxandrolone Compared With a Placebo on Growth Rate in Girls With Growth Hormone-Treated Turner's Syndrome Completed NCT00004275 Phase 2 growth hormone;oxandrolone
41 The Effects of Hormones in Growth Hormone-Treated Girls With Turner Syndrome Completed NCT00001343 Phase 2 Humatrope;Oxandrolone
42 Hormone Replacement Therapy to Treat Turner Syndrome Completed NCT00013546 Phase 2 TMTDS
43 "It is a Real" The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure Completed NCT02372474 Phase 1, Phase 2
44 Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure Completed NCT02151890 Phase 1, Phase 2
45 GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients Completed NCT00429494 Phase 2 Leuprolide Acetate
46 Hormone Replacement in Young Women With Premature Ovarian Failure Completed NCT00001951 Phase 2 TMTDS
47 A Study of PEG-somatropin Injection to Treat Children of Turner Syndrome Recruiting NCT03189160 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 29

Anatomical Context for Gonadal Dysgenesis

MalaCards organs/tissues related to Gonadal Dysgenesis:

41
Testes, Bone, Brain, Liver, Testis, Heart, Thyroid

Publications for Gonadal Dysgenesis

Articles related to Gonadal Dysgenesis:

(show top 50) (show all 867)
# Title Authors Year
1
Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating I^-catenin. ( 29095481 )
2018
2
Cognitive abilities in women with complete androgen insensitivity syndrome and women with gonadal dysgenesis. ( 29884451 )
2018
3
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
4
CORRIGENDUM FOR &amp;quot;A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis&amp;quot;. ( 29126114 )
2018
5
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
6
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
7
Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import. ( 29378242 )
2018
8
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
9
The Mosaicism Ratio of 45,X May Explain the Phenotype in a Case of Mixed Gonadal Dysgenesis. ( 29879705 )
2018
10
Metachronous Synovial Sarcoma After Treatment of Mixed Germ Cell Tumor in a Child with Complete Gonadal Dysgenesis. ( 28836496 )
2018
11
A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis. ( 30032139 )
2018
12
In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis. ( 30298535 )
2018
13
Response to commentary to 'Gonadal dysgenesis in disorders of sex development (DSD): Diagnosis and surgical management'. ( 28153775 )
2017
14
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
15
MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature. ( 28504475 )
2017
16
Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis: a rare presentation. ( 29746049 )
2017
17
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis. ( 28459839 )
2017
18
Normal pelvic ultrasound or MRI does not rule out neoplasm in patients with gonadal dysgenesis and Y chromosome material. ( 29317190 )
2017
19
Clinical heterogeneity in children with gonadal dysgenesis associated with non-mosaic 46,XY karyotype. ( 28434637 )
2017
20
Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization. ( 29190620 )
2017
21
Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis. ( 28787711 )
2017
22
Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis. ( 28867417 )
2017
23
Novel Heterozygous Genetic Variants in Patients with 46,XY Gonadal Dysgenesis. ( 27711951 )
2017
24
Walker-Warburg syndrome with gonadal dysgenesis: A rare association. ( 28488658 )
2017
25
Genetics of Reproductive Aging from Gonadal Dysgenesis through Menopause. ( 28278532 )
2017
26
THE EVALUATION OF CASES WITH Y-CHROMOSOME GONADAL DYSGENESIS: CLINICAL EXPERIENCE FOR 18 YEARS. ( 28825592 )
2017
27
A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis. ( 27007510 )
2016
28
Mixed Gonadal Dysgenesis with an unusual &amp;quot;inverted&amp;quot; Y chromosome. ( 27941186 )
2016
29
A biallelic mutation in the homologous recombination repair gene SPIDR is associated with human gonadal dysgenesis. ( 27967308 )
2016
30
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
31
Clinical Features of 32 Patients with XO/XY Gonadal Dysgenesis. ( 27594153 )
2016
32
Retraction: Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene. ( 27777913 )
2016
33
A Novel Missense Mutation 224G&amp;gt;T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis. ( 28030592 )
2016
34
A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. ( 28216916 )
2016
35
Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis. ( 27169744 )
2016
36
Commentary to 'Gonadal dysgenesis in disorders of sex development (DSD): Diagnosis and surgical management'. ( 27876298 )
2016
37
Evidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood. ( 27116846 )
2016
38
Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis. ( 28621097 )
2016
39
Imaging Findings in Dysgerminoma in a Case of 46 XY, Complete Gonadal Dysgenesis (Swyer syndrome). ( 27790550 )
2016
40
Early recognition of gonadal dysgenesis in congenital nephrotic syndromea8c. ( 27719739 )
2016
41
Mixed gonadal dysgenesis in YaoundAc: A preliminary experience about three cases. ( 27502884 )
2016
42
Mixed Germ Cell Tumour in a Case of Pure Gonadal Dysgenesis (Swyer Syndrome) - A Case Report. ( 26918227 )
2016
43
NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations. ( 27463801 )
2016
44
Clinical features and management of 33 patients with 46,XX pure gonadal dysgenesis. ( 27250571 )
2016
45
A Case of Chromosomal Disorders of Sex Development with Transverse Testicular Ectopia Mimicking Mixed Gonadal Dysgenesis. ( 27765586 )
2016
46
Gonadal dysgenesis in disorders of sex development: Diagnosis and surgical management. ( 27769830 )
2016
47
Pure gonadal dysgenesis (46 XX type) with a familial pattern. ( 26430655 )
2015
48
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. ( 26544196 )
2015
49
46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing. ( 25927242 )
2015
50
A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar. ( 25569267 )
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
2 nuclear transcription factor complex GO:0044798 8.96 SOX9 SRY

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 spermatogenesis GO:0007283 9.97 DMRT1 FSHR NR0B1 SOX9 TSPY1
2 positive regulation of gene expression GO:0010628 9.97 AMH FGF9 NR5A1 SOX9 WT1
3 sex differentiation GO:0007548 9.73 AMH DMRT1 SRY TSPY1
4 female gonad development GO:0008585 9.71 FOXL2 FSHR NR5A1
5 adrenal gland development GO:0030325 9.7 NR0B1 NR5A1 WT1
6 male gonad development GO:0008584 9.7 DMRT1 FGF9 FSHR NR0B1 NR5A1 SOX9
7 Sertoli cell development GO:0060009 9.67 DMRT1 FSHR SOX9
8 gonad development GO:0008406 9.67 AMH FSHR NR0B1 WT1
9 gonadal mesoderm development GO:0007506 9.65 AMH TSPY1 ZFPM2
10 positive regulation of mesenchymal cell proliferation GO:0002053 9.63 FGF9 SOX9
11 tissue development GO:0009888 9.63 NR5A1 WT1
12 Sertoli cell differentiation GO:0060008 9.63 DMRT1 NR0B1 SOX9
13 female gamete generation GO:0007292 9.62 BMP15 FSHR
14 uterus development GO:0060065 9.62 FOXL2 FSHR
15 Leydig cell differentiation GO:0033327 9.59 DHH NR0B1
16 regulation of steroid biosynthetic process GO:0050810 9.58 DHH NR5A1
17 negative regulation of female gonad development GO:2000195 9.58 NR5A1 WT1 ZFPM2
18 sex determination GO:0007530 9.56 AMH NR0B1 NR5A1 WT1
19 male sex determination GO:0030238 9.5 DHH DMRT1 FGF9 NR0B1 NR5A1 SOX9
20 positive regulation of male gonad development GO:2000020 9.1 DMRT1 NR5A1 SOX9 SRY WT1 ZFPM2
21 regulation of transcription, DNA-templated GO:0006355 10.15 DMRT1 FOXL2 NR0B1 NR5A1 SOX9 SRY
22 positive regulation of transcription by RNA polymerase II GO:0045944 10.1 DMRT1 FOXL2 NR5A1 SOX9 SRY WT1
23 negative regulation of transcription by RNA polymerase II GO:0000122 10.09 DMRT1 FGF9 FOXL2 NR0B1 SRY WT1
24 positive regulation of transcription, DNA-templated GO:0045893 10.05 BMP15 FOXL2 NR5A1 SOX9 SRY WT1
25 cell differentiation GO:0030154 10.02 AMH DMRT1 FGF9 FOXL2 NR0B1 NR5A1
26 transcription by RNA polymerase II GO:0006366 10.01 DMRT1 FOXL2 NR5A1 SRY WT1
27 negative regulation of transcription, DNA-templated GO:0045892 10 FOXL2 NR0B1 SOX9 WT1 ZFPM2

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.81 DMRT1 FOXL2 NR0B1 NR5A1 PSMC3IP SOX9
2 zinc ion binding GO:0008270 9.8 DHH MAP3K1 NR5A1 WT1 ZFPM2
3 DNA-binding transcription factor activity GO:0003700 9.8 DMRT1 FOXL2 NR5A1 SOX9 SRY WT1
4 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.67 FOXL2 SOX9 SRY WT1
5 growth factor activity GO:0008083 9.61 AMH BMP15 FGF9
6 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.56 DMRT1 FOXL2 NR0B1 NR5A1 SOX9 SRY
7 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.43 NR5A1 SOX9 SRY
8 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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