MCID: GND004
MIFTS: 50

Gonadal Dysgenesis

Categories: Rare diseases, Endocrine diseases, Reproductive diseases, Skin diseases, Fetal 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
UMLS 73 C0018051

Summaries for Gonadal Dysgenesis

Disease Ontology : 12 A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.

MalaCards based summary : Gonadal Dysgenesis, also known as gonadal dysgenesis syndrome, is related to mixed gonadal dysgenesis and perrault syndrome. An important gene associated with Gonadal Dysgenesis is DHH (Desert Hedgehog). The drugs Progesterone and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and ovary, 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 154)
# Related Disease Score Top Affiliating Genes
1 mixed gonadal dysgenesis 33.4 AMH DHH FOXL2 SOX9 SRY
2 perrault syndrome 32.3 FOXL2 HSD17B4 PSMC3IP
3 hermaphroditism 31.2 SOX9 SRY
4 46 xy gonadal dysgenesis 31.2 C2orf80 DHH DMRT1 MAP3K1 NR0B1 NR5A1
5 46,xy partial gonadal dysgenesis 30.7 DHH MAP3K1 NR0B1 NR5A1 SOX9 SRY
6 gonadoblastoma 30.3 FOXL2 SOX9 SRY TSPY1 WT1
7 pseudohermaphroditism 30.3 AMH NR5A1 SRY WT1
8 frasier syndrome 29.8 AMH NR5A1 SOX9 SRY WT1
9 hypospadias 29.8 NR5A1 SOX9 SRY WT1
10 sex differentiation disease 29.6 AMH SRY
11 premature ovarian failure 1 29.5 AMH BMP15 FOXL2 FSHR NR5A1 WT1
12 amenorrhea 29.3 BMP15 FSHR NR5A1 SRY
13 46,xx sex reversal 1 29.0 BMP15 FSHR NR0B1 NR5A1 PSMC3IP SOX9
14 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 12.4
15 46 xx gonadal dysgenesis 12.3
16 45,x/46,xy mixed gonadal dysgenesis 12.2
17 alopecia universalis congenita, xy gonadal dysgenesis, and laryngomalacia 12.2
18 gonadal dysgenesis, xy type, with associated anomalies 12.1
19 46,xx gonadal dysgenesis epibulbar dermoid 12.0
20 46,xy sex reversal 1 12.0
21 ovarian dysgenesis 1 11.8
22 turner syndrome 11.7
23 46,xy sex reversal 4 11.7
24 denys-drash syndrome 11.5
25 46,xy sex reversal 7 11.5
26 perrault syndrome 1 11.3
27 46,xy sex reversal 3 11.2
28 46,xy sex reversal 5 11.2
29 46,xy sex reversal 6 11.2
30 46,xy sex reversal 10 11.1
31 muscular dystrophy, congenital, with infantile cataract and hypogonadism 11.0
32 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis 11.0
33 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis 11.0
34 campomelic dysplasia 11.0
35 testicular regression syndrome 11.0
36 chondrodysplasia-pseudohermaphroditism syndrome 11.0
37 anorchia 10.6 NR5A1 SRY
38 uterine hypoplasia 10.5 BMP15 PSMC3IP
39 testicular disease 10.4 SOX9 SRY
40 sertoli cell tumor 10.3 NR5A1 WT1
41 alternating hemiplegia of childhood 10.3 NR0B1 NR5A1 SRY
42 adrenal cortical hypofunction 10.3 NR0B1 NR5A1
43 freemartinism 10.3 AMH BMP15 SRY
44 testicular granulosa cell tumor 10.2 FOXL2 WT1
45 anorexia nervosa 10.2
46 juvenile type testicular granulosa cell tumor 10.2 FOXL2 WT1
47 wilms tumor 5 10.2
48 wilms tumor 6 10.2
49 mayer-rokitansky-kuster-hauser syndrome 10.1
50 androgen insensitivity syndrome 10.1

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
# 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 FOXL2 FSHR
2 homeostasis/metabolism MP:0005376 9.73 FOXL2 FSHR HSD17B4 MAP3K1 NR0B1 NR5A1
3 reproductive system MP:0005389 9.44 AMH BMP15 DHH DMRT1 FOXL2 FSHR

Drugs & Therapeutics for Gonadal Dysgenesis

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

(show top 50) (show all 108)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Progesterone Approved, Vet_approved Phase 4,Phase 3,Not Applicable,Early Phase 1 57-83-0 5994
2
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-28-2 5757
3 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 979-32-8
4
Polyestradiol phosphate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 28014-46-2
5
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Not Applicable 57-63-6 5991
6
Norethindrone Approved Phase 4,Not Applicable 68-22-4 6230
7
Ganirelix Approved Phase 4 123246-29-7, 124904-93-4 25081094
8
Lenograstim Approved, Investigational Phase 4 135968-09-1
9
Lactitol Investigational Phase 4 585-86-4 3871
10 Deslorelin Investigational, Vet_approved Phase 4 57773-65-6
11 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
12 Hormones Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
14 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
15 Contraceptive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
16 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
17 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
18 Contraceptives, Oral Phase 4,Phase 3,Phase 2,Not Applicable
19 Norethindrone acetate Phase 4,Not Applicable
20 Norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination Phase 4
21 Norinyl Phase 4
22 Progestins Phase 4,Phase 3,Not Applicable,Early Phase 1
23 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1
24 Luteolytic Agents Phase 4
25 Triptorelin Pamoate Phase 4
26 Adjuvants, Immunologic Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
27
Testosterone Approved, Investigational Phase 3,Phase 2,Phase 1 58-22-0 6013
28
Methyltestosterone Approved Phase 3,Phase 1,Phase 2 58-18-4 6010
29
Oxandrolone Approved, Investigational Phase 3,Phase 2,Phase 1 53-39-4 5878
30
Testosterone enanthate Approved Phase 3,Phase 1,Phase 2 315-37-7 9416
31
Testosterone undecanoate Approved, Investigational Phase 3,Phase 1,Phase 2 5949-44-0
32
Medroxyprogesterone acetate Approved, Investigational Phase 3,Phase 2 71-58-9
33
Norgestimate Approved, Investigational Phase 3 35189-28-7 6540478
34
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
35
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838
36
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 5785 54670067
37
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1 53-43-0 9860744
38 Anabolic Agents Phase 3,Phase 2,Phase 1
39 Androgens Phase 3,Phase 2,Phase 1
40 Antioxidants Phase 3
41 Estrogens, Conjugated (USP) Phase 3,Phase 1,Not Applicable
42 Micronutrients Phase 3,Phase 1
43 Protective Agents Phase 3
44 Testosterone 17 beta-cypionate Phase 3,Phase 1,Phase 2
45 Trace Elements Phase 3,Phase 1
46 Vitamins Phase 3,Phase 2,Phase 1
47 Contraceptive Agents, Male Phase 3,Phase 2
48
Medroxyprogesterone Phase 3,Phase 2 520-85-4 10631
49 Contraceptives, Oral, Combined Phase 3
50 Epinephryl borate Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 163)
# Name Status NCT ID Phase Drugs
1 Effects of ADSC Therapy in Women With POF Unknown status NCT01853501 Phase 4
2 First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study Completed NCT01419249 Phase 4
3 Growth Hormone Treatment for the Prevention of Short Stature in Young Girls With Turner Syndrome Before the Age of 4 Years Completed NCT01066052 Phase 4
4 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4 estradiol
5 Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
6 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
7 Growth Response in Girls With Turner Syndrome Completed NCT01734486 Phase 4 somatropin;somatropin
8 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
9 Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome Completed NCT01518062 Phase 4 somatropin;somatropin;somatropin;oestrogen
10 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
11 Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure Completed NCT00732693 Phase 4 Ethinylestradiol / Norethisterone;Estradiol / Progesterone
12 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)
13 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4 Somatropin
14 Filgrastim for Premature Ovarian Insufficiency Active, not recruiting NCT02783937 Phase 4 Saline
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 Estrogen Treatment (Oral vs. Patches) in Turner Syndrome Completed NCT00140998 Phase 3 17 beta estradiol
22 An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG Completed NCT00250250 Phase 3 ZOMACTON
23 Somatropin Treatment in Patients With SHOX Deficiency and Turner Syndrome Completed NCT00190658 Phase 3 Somatropin (rDNA origin) for injection
24 Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq Completed NCT00234533 Phase 3 Somatropin (rDNA origin)
25 Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT01563926 Phase 3 somatropin
26 Primary Ovarian Insufficiency: Phenotype and Optimal Treatment Recruiting NCT03568708 Phase 3 Transdermal Estrogen
27 Hormone Replacement for Premature Ovarian Insufficiency Recruiting NCT02922348 Phase 3 Hormone Replacement Therapy;Combined Oral Contraceptives
28 A Clinical Study to Assess the Efficacy and Safety of DA-3002 Active, not recruiting NCT01813630 Phase 3 DA-3002;Genotropin®
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 Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure Unknown status NCT02043743 Phase 1, Phase 2
33 Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure Unknown status NCT02062931 Phase 1, Phase 2
34 Stem Cell Therapy Combined Hormone Replacement Therapy in Patients With Premature Ovarian Failure Unknown status NCT01742533 Phase 1, Phase 2 Hormone Replacement Therapy
35 Chinese Medicine(Hu Yang Yang Kun Formula) for Primary Ovarian Insufficiency Completed NCT02794948 Phase 1, Phase 2
36 The Effects of Estrogen on Cognition in Girls With Turner Syndrome Completed NCT00001253 Phase 2
37 Effect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients With Turner Syndrome Completed NCT00001221 Phase 2 Growth Hormone (Humatrope)
38 Oxandrolone Compared With a Placebo on Growth Rate in Girls With Growth Hormone-Treated Turner's Syndrome Completed NCT00004275 Phase 2 growth hormone;oxandrolone
39 The Effects of Hormones in Growth Hormone-Treated Girls With Turner Syndrome Completed NCT00001343 Phase 2 Humatrope;Oxandrolone
40 Hormone Replacement Therapy to Treat Turner Syndrome Completed NCT00013546 Phase 2 TMTDS
41 "It is a Real" The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure Completed NCT02372474 Phase 1, Phase 2
42 Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure Completed NCT02151890 Phase 1, Phase 2
43 GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients Completed NCT00429494 Phase 2 Leuprolide Acetate
44 Hormone Replacement in Young Women With Premature Ovarian Failure Completed NCT00001951 Phase 2 TMTDS
45 A Study of PEG-somatropin Injection to Treat Children of Turner Syndrome Recruiting NCT03189160 Phase 2
46 Human Umbilical Cord Mesenchymal Stem Cells (HUC-MSCs) Transplantation in Women With Primary Ovarian Insufficiency (POI) Recruiting NCT03033277 Phase 1, Phase 2
47 Effect of Testosterone Treatment on Embryo Quality Recruiting NCT01662466 Phase 1, Phase 2 Testosterone cream (0.5mg per gram);Placebo
48 Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF) Recruiting NCT02603744 Phase 1, Phase 2
49 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)
50 Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF) Active, not recruiting NCT03069209 Phase 1, Phase 2

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

Publications for Gonadal Dysgenesis

Articles related to Gonadal Dysgenesis:

(show top 50) (show all 612)
# 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
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
5
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
6
Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import. ( 29378242 )
2018
7
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
8
The Mosaicism Ratio of 45,X May Explain the Phenotype in a Case of Mixed Gonadal Dysgenesis. ( 29879705 )
2018
9
Response to commentary to 'Gonadal dysgenesis in disorders of sex development (DSD): Diagnosis and surgical management'. ( 28153775 )
2017
10
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
11
MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature. ( 28504475 )
2017
12
Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis: a rare presentation. ( 29746049 )
2017
13
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis. ( 28459839 )
2017
14
Normal pelvic ultrasound or MRI does not rule out neoplasm in patients with gonadal dysgenesis and Y chromosome material. ( 29317190 )
2017
15
Clinical heterogeneity in children with gonadal dysgenesis associated with non-mosaic 46,XY karyotype. ( 28434637 )
2017
16
Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization. ( 29190620 )
2017
17
Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis. ( 28787711 )
2017
18
Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis. ( 28867417 )
2017
19
Novel Heterozygous Genetic Variants in Patients with 46,XY Gonadal Dysgenesis. ( 27711951 )
2017
20
Walker-Warburg syndrome with gonadal dysgenesis: A rare association. ( 28488658 )
2017
21
Genetics of Reproductive Aging from Gonadal Dysgenesis through Menopause. ( 28278532 )
2017
22
THE EVALUATION OF CASES WITH Y-CHROMOSOME GONADAL DYSGENESIS: CLINICAL EXPERIENCE FOR 18 YEARS. ( 28825592 )
2017
23
A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis. ( 27007510 )
2016
24
Mixed Gonadal Dysgenesis with an unusual &amp;quot;inverted&amp;quot; Y chromosome. ( 27941186 )
2016
25
A biallelic mutation in the homologous recombination repair gene SPIDR is associated with human gonadal dysgenesis. ( 27967308 )
2016
26
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
27
Clinical Features of 32 Patients with XO/XY Gonadal Dysgenesis. ( 27594153 )
2016
28
Retraction: Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene. ( 27777913 )
2016
29
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
30
A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. ( 28216916 )
2016
31
Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis. ( 27169744 )
2016
32
Commentary to 'Gonadal dysgenesis in disorders of sex development (DSD): Diagnosis and surgical management'. ( 27876298 )
2016
33
Evidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood. ( 27116846 )
2016
34
Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis. ( 28621097 )
2016
35
Imaging Findings in Dysgerminoma in a Case of 46 XY, Complete Gonadal Dysgenesis (Swyer syndrome). ( 27790550 )
2016
36
Early recognition of gonadal dysgenesis in congenital nephrotic syndromea8c. ( 27719739 )
2016
37
Mixed gonadal dysgenesis in YaoundAc: A preliminary experience about three cases. ( 27502884 )
2016
38
Mixed Germ Cell Tumour in a Case of Pure Gonadal Dysgenesis (Swyer Syndrome) - A Case Report. ( 26918227 )
2016
39
NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations. ( 27463801 )
2016
40
Clinical features and management of 33 patients with 46,XX pure gonadal dysgenesis. ( 27250571 )
2016
41
A Case of Chromosomal Disorders of Sex Development with Transverse Testicular Ectopia Mimicking Mixed Gonadal Dysgenesis. ( 27765586 )
2016
42
Gonadal dysgenesis in disorders of sex development: Diagnosis and surgical management. ( 27769830 )
2016
43
Pure gonadal dysgenesis (46 XX type) with a familial pattern. ( 26430655 )
2015
44
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. ( 26544196 )
2015
45
46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing. ( 25927242 )
2015
46
A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar. ( 25569267 )
2015
47
WT1 Deletion Leading to Severe 46,XY Gonadal Dysgenesis, Wilms Tumor and Gonadoblastoma: Case Report. ( 25613702 )
2015
48
Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene. ( 26817010 )
2015
49
An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation. ( 26316442 )
2015
50
Identification of X Monosomy Cells From a Gonad of Mixed Gonadal Dysgenesis With a 46,XY Karyotype: Case Report. ( 25860218 )
2015

Variations for Gonadal Dysgenesis

Expression for Gonadal Dysgenesis

Search GEO for disease gene expression data for Gonadal Dysgenesis.

Pathways for Gonadal Dysgenesis

GO Terms for Gonadal Dysgenesis

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

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

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.98 DMRT1 FOXL2 NR5A1 WT1 ZFPM2
2 negative regulation of transcription, DNA-templated GO:0045892 9.97 FOXL2 NR0B1 SOX9 WT1 ZFPM2
3 spermatogenesis GO:0007283 9.95 DMRT1 FSHR NR0B1 SOX9 TSPY1
4 sex differentiation GO:0007548 9.73 AMH DMRT1 SRY TSPY1
5 male gonad development GO:0008584 9.73 DMRT1 FSHR NR0B1 NR5A1 SOX9 WT1
6 female gonad development GO:0008585 9.71 FOXL2 FSHR NR5A1
7 adrenal gland development GO:0030325 9.7 NR0B1 NR5A1 WT1
8 gonadal mesoderm development GO:0007506 9.67 AMH TSPY1 ZFPM2
9 gonad development GO:0008406 9.67 AMH FSHR NR0B1 WT1
10 Sertoli cell differentiation GO:0060008 9.65 DMRT1 NR0B1 SOX9
11 tissue development GO:0009888 9.62 NR5A1 WT1
12 Sertoli cell development GO:0060009 9.62 DMRT1 FSHR HSD17B4 SOX9
13 female gamete generation GO:0007292 9.61 BMP15 FSHR
14 uterus development GO:0060065 9.59 FOXL2 FSHR
15 negative regulation of female gonad development GO:2000195 9.58 NR5A1 WT1 ZFPM2
16 Leydig cell differentiation GO:0033327 9.57 DHH NR0B1
17 regulation of steroid biosynthetic process GO:0050810 9.56 DHH NR5A1
18 sex determination GO:0007530 9.46 AMH NR0B1 NR5A1 WT1
19 male sex determination GO:0030238 9.35 DHH DMRT1 NR0B1 SOX9 SRY
20 positive regulation of male gonad development GO:2000020 9.1 DMRT1 NR5A1 SOX9 SRY WT1 ZFPM2
21 transcription, DNA-templated GO:0006351 10.21 DMRT1 FOXL2 NR0B1 NR5A1 SOX9 SRY
22 cell differentiation GO:0030154 10.11 AMH DMRT1 FOXL2 NR0B1 NR5A1 SOX9
23 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 DMRT1 FOXL2 NR5A1 SOX9 WT1 ZFPM2
24 positive regulation of transcription, DNA-templated GO:0045893 10.05 BMP15 FOXL2 NR5A1 SOX9 SRY WT1
25 negative regulation of transcription by RNA polymerase II GO:0000122 10.02 DMRT1 FOXL2 NR0B1 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 DNA binding transcription factor activity GO:0003700 9.8 DMRT1 FOXL2 NR5A1 SOX9 SRY WT1
3 zinc ion binding GO:0008270 9.77 DHH MAP3K1 NR5A1 WT1 ZFPM2
4 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.43 NR5A1 SOX9 SRY
5 sequence-specific DNA binding GO:0043565 9.43 DMRT1 FOXL2 NR0B1 NR5A1 SOX9 WT1
6 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.23 DMRT1 FOXL2 NR0B1 NR5A1 SOX9 SRY

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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