MCID: GND004
MIFTS: 51

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 50 29 42 14 69
Gonadal Dysgenesis Syndrome 12
Turner Syndrome 69

Classifications:



External Ids:

Disease Ontology 12 DOID:14447
ICD9CM 35 758.6
MeSH 42 D006059
NCIt 47 C61420
UMLS 69 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 hypogonadism and 46 xx gonadal dysgenesis. An important gene associated with Gonadal Dysgenesis is SRY (Sex Determining Region Y), and among its related pathways/superpathways are Ovarian steroidogenesis and Ovarian Infertility Genes. The drugs Progesterone and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include ovary, bone and testes, and related phenotypes are endocrine/exocrine gland and homeostasis/metabolism

Wikipedia : 72 Gonadal dysgenesis is any congenital developmental disorder of the reproductive system characterized by... 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 140)
id Related Disease Score Top Affiliating Genes
1 hypogonadism 30.2 FOXL2 NR5A1 WT1
2 46 xx gonadal dysgenesis 25.5 AMH BMP15 C2orf80 DHH DMRT1 FGF9
3 46 xy gonadal dysgenesis 12.5
4 46xy partial gonadal dysgenesis, with minifascicular neuropathy 12.3
5 mixed gonadal dysgenesis 12.2
6 46,xy disorder of sex development and 46,xy complete gonadal dysgenesis 12.1
7 45,x/46,xy mixed gonadal dysgenesis 12.1
8 46,xy partial gonadal dysgenesis 12.1
9 gonadal dysgenesis, xy type, with associated anomalies 12.0
10 46,xx gonadal dysgenesis epibulbar dermoid 11.9
11 46xy sex reversal 1 11.6
12 turner syndrome 11.5
13 denys-drash syndrome 11.4
14 46xx sex reversal 1 11.3
15 perrault syndrome 11.3
16 46xy sex reversal 7 11.2
17 ovarian dysgenesis 1 11.2
18 perrault syndrome 1 11.1
19 46xy sex reversal 6 10.9
20 cbx2-related 46,xy dsd and 46,xy cgd 10.9
21 46xy sex reversal 3 10.9
22 sry-related 46,xy dsd and 46,xy cgd 10.9
23 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis 10.9
24 muscular dystrophy, congenital, with infantile cataract and hypogonadism 10.9
25 46xy sex reversal 5 10.9
26 premature ovarian failure 1 10.9
27 chondrodysplasia-pseudohermaphroditism syndrome 10.9
28 testicular regression syndrome 10.9
29 campomelic dysplasia 10.9
30 anterior spinal artery stroke 10.6 NR5A1 SRY
31 vaginal discharge 10.6 SOX9 SRY
32 gonadoblastoma 10.6
33 familial isolated dilated cardiomyopathy 10.5 BMP15 PSMC3IP
34 pancreatic ductal carcinoma 10.4 NR5A1 WT1
35 sphingolipidosis 10.3 AMH SRY
36 dressler's syndrome 10.3 NR0B1 NR5A1
37 alternating hemiplegia of childhood 10.3 NR0B1 NR5A1 SRY
38 thymus mucoepidermoid carcinoma 10.3 AMH BMP15 SRY
39 glycerol kinase deficiency 10.2 NR0B1 NR5A1
40 diabetes mellitus, insulin-resistant, with acanthosis nigricans 10.1 AMH NR5A1 WT1
41 hermaphroditism 10.1
42 anorexia nervosa 10.1
43 splenic disease 10.1 SOX9 SRY
44 tooth disease 10.1 NR5A1 SOX9 SRY WT1
45 amenorrhea 10.1
46 pseudohermaphroditism 10.1
47 premature ovarian failure 3 10.1 BMP15 FOXL2 NR5A1
48 seminoma 10.1
49 adenocarcinoma 10.1
50 mayer-rokitansky-kuster-hauser syndrome 10.1

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



Diseases related to Gonadal Dysgenesis

Symptoms & Phenotypes for Gonadal Dysgenesis

MGI Mouse Phenotypes related to Gonadal Dysgenesis:

44
id 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 9.73 AMH DHH FGF9 FOXL2 FSHR GDF9
3 reproductive system MP:0005389 9.47 ZFPM2 AMH BMP15 DHH DMRT1 FGF9

Drugs & Therapeutics for Gonadal Dysgenesis

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

(show top 50) (show all 97)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Progesterone Approved, Vet_approved Phase 4,Phase 3,Early Phase 1 57-83-0 5994
2
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-28-2 5757
3
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2 57-63-6 5991
4
Norethindrone Approved Phase 4 68-22-4 6230
5
Ganirelix Approved Phase 4 123246-29-7, 124904-93-4 25081094
6
Lenograstim Approved Phase 4 135968-09-1
7
Lactitol Investigational Phase 4 585-86-4 3871
8 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
9 Hormones Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
11 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
12 Contraceptive Agents Phase 4,Phase 3,Phase 2,Phase 1
13 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
14 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
15 Estradiol valerate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 979-32-8
16 Polyestradiol phosphate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
17 Contraceptives, Oral Phase 4,Phase 3,Phase 2
18 Norethindrone acetate Phase 4
19 Norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination Phase 4
20 Norinyl Phase 4
21 Progestins Phase 4,Phase 3,Early Phase 1
22 Chorionic Gonadotropin Phase 4
23 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1
24 Deslorelin Phase 4
25 Luteolytic Agents Phase 4
26 Triptorelin Pamoate Phase 4
27 Adjuvants, Immunologic Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
28 Hypoglycemic Agents Phase 4
29 insulin Phase 4
30 Insulin, Globin Zinc Phase 4
31
Testosterone Approved, Investigational Phase 3,Phase 2,Phase 1 58-22-0 6013
32
Methyltestosterone Approved Phase 3,Phase 1,Phase 2 58-18-4 6010
33
Oxandrolone Approved, Investigational Phase 3,Phase 2,Phase 1 53-39-4 5878
34
Medroxyprogesterone acetate Approved, Investigational Phase 3,Phase 2 71-58-9
35
Norgestimate Approved Phase 3 35189-28-7 6540478
36
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
37 Racepinephrine Approved Phase 2, Phase 3
38
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 5785 54670067
39
Dehydroepiandrosterone Approved, Nutraceutical Phase 2, Phase 3, Phase 1, Early Phase 1 53-43-0 9860744
40 Anabolic Agents Phase 3,Phase 2,Phase 1
41 Androgens Phase 3,Phase 2,Phase 1
42 Antioxidants Phase 3
43 Estrogens, Conjugated (USP) Phase 3,Phase 1
44 Micronutrients Phase 3
45 Protective Agents Phase 3
46 Testosterone 17 beta-cypionate Phase 3,Phase 1,Phase 2
47
Testosterone enanthate Phase 3,Phase 1,Phase 2 315-37-7 9416
48 Testosterone undecanoate Phase 3,Phase 1,Phase 2
49 Trace Elements Phase 3
50 Vitamins Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 142)

id 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 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4 estradiol
4 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
5 A Study to Evaluate Subjects With Turner Syndrome Treated With Growth Hormone Completed NCT00097552 Phase 4
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 Predictive Markers in GHD and TS Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen
11 Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD) Completed NCT00097526 Phase 4
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 Modified Natural Cycle Offers a Chance of Pregnancy in Patients With Poor Response and High Basal FSH Completed NCT00417157 Phase 4 recombinant FSH (Puregon, Organon, The Netherlands);GnRH antag: Ganirelix (Orgalutran, Organon, The Netherlands);hCG (Pregnyl, Organon, The Netherlands)
15 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)
16 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4 Somatropin
17 Filgrastim for Premature Ovarian Insufficiency Active, not recruiting NCT02783937 Phase 4 Saline
18 Study to Identify Markers of Insulin Resistance During Growth Hormone Treatment for Short Stature Terminated NCT00121875 Phase 4 somatropin (rDNA)
19 The Effect of Androgen and Growth Hormone on Height and Learning in Girls With Turner Syndrome Completed NCT00029159 Phase 3 estrogen;androgen
20 The Effect of Growth Hormone in Very Young Girls With Turner Syndrome Completed NCT00406926 Phase 3 Somatropin
21 Somatropin Treatment to Final Height in Turner Syndrome Completed NCT00191113 Phase 3 Somatropin;Ethinyl estradiol;Medroxyprogesterone acetate
22 Use of Somatropin in Turner Syndrome Completed NCT01518036 Phase 3 somatropin;somatropin
23 Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome Completed NCT01710696 Phase 3 17-beta estradiol;17-beta estradiol
24 Estrogen Treatment (Oral vs. Patches) in Turner Syndrome Completed NCT00140998 Phase 3 17 beta estradiol
25 An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG Completed NCT00250250 Phase 3 ZOMACTON
26 Somatropin Treatment in Patients With SHOX Deficiency and Turner Syndrome Completed NCT00190658 Phase 3 Somatropin (rDNA origin) for injection
27 Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT01563926 Phase 3 somatropin
28 Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq Completed NCT00234533 Phase 3 Somatropin (rDNA origin)
29 Hormone Replacement for Premature Ovarian Insufficiency Recruiting NCT02922348 Phase 3 Hormone Replacement Therapy;Combined Oral Contraceptives
30 A Clinical Study to Assess the Efficacy and Safety of DA-3002 Active, not recruiting NCT01813630 Phase 3 DA-3002;Genotropin®
31 Study of Oral Dehydroepiandrosterone(DHEA) to Treat Previously Unexplained Infertility Terminated NCT00650754 Phase 2, Phase 3
32 Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF) Terminated NCT00948857 Phase 2, Phase 3
33 Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure Unknown status NCT02043743 Phase 1, Phase 2
34 Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure Unknown status NCT02062931 Phase 1, Phase 2
35 Stem Cell Therapy Combined Hormone Replacement Therapy in Patients With Premature Ovarian Failure Unknown status NCT01742533 Phase 1, Phase 2 Hormone Replacement Therapy
36 Effect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients With Turner Syndrome Completed NCT00001221 Phase 2 Growth Hormone (Humatrope)
37 The Effects of Estrogen on Cognition in Girls With Turner Syndrome Completed NCT00001253 Phase 2
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:

id Genetic test Affiliating Genes
1 Gonadal Dysgenesis 29

Anatomical Context for Gonadal Dysgenesis

MalaCards organs/tissues related to Gonadal Dysgenesis:

39
Ovary, Bone, Testes, Brain, Liver, Bone Marrow, Testis

Publications for Gonadal Dysgenesis

Articles related to Gonadal Dysgenesis:

(show top 50) (show all 597)
id Title Authors Year
1
Walker-Warburg syndrome with gonadal dysgenesis: A rare association. ( 28488658 )
2017
2
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis. ( 28459839 )
2017
3
Clinical heterogeneity in children with gonadal dysgenesis associated with non-mosaic 46,XY karyotype. ( 28434637 )
2017
4
Response to commentary to 'Gonadal dysgenesis in disorders of sex development (DSD): Diagnosis and surgical management'. ( 28153775 )
2017
5
THE EVALUATION OF CASES WITH Y-CHROMOSOME GONADAL DYSGENESIS: CLINICAL EXPERIENCE FOR 18 YEARS. ( 28825592 )
2017
6
Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis. ( 28867417 )
2017
7
Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis. ( 28787711 )
2017
8
Genetics of Reproductive Aging from Gonadal Dysgenesis through Menopause. ( 28278532 )
2017
9
Novel Heterozygous Genetic Variants in Patients with 46,XY Gonadal Dysgenesis. ( 27711951 )
2017
10
MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature. ( 28504475 )
2017
11
Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis. ( 27169744 )
2016
12
Commentary to 'Gonadal dysgenesis in disorders of sex development (DSD): Diagnosis and surgical management'. ( 27876298 )
2016
13
Early recognition of gonadal dysgenesis in congenital nephrotic syndromea8c. ( 27719739 )
2016
14
NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations. ( 27463801 )
2016
15
Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis. ( 28621097 )
2016
16
A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. ( 28216916 )
2016
17
Retraction: Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene. ( 27777913 )
2016
18
Evidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood. ( 27116846 )
2016
19
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
20
Mixed Germ Cell Tumour in a Case of Pure Gonadal Dysgenesis (Swyer Syndrome) - A Case Report. ( 26918227 )
2016
21
Clinical Features of 32 Patients with XO/XY Gonadal Dysgenesis. ( 27594153 )
2016
22
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
23
Mixed gonadal dysgenesis in YaoundAc: A preliminary experience about three cases. ( 27502884 )
2016
24
Clinical features and management of 33 patients with 46,XX pure gonadal dysgenesis. ( 27250571 )
2016
25
A biallelic mutation in the homologous recombination repair gene SPIDR is associated with human gonadal dysgenesis. ( 27967308 )
2016
26
Mixed Gonadal Dysgenesis with an unusual "inverted" Y chromosome. ( 27941186 )
2016
27
A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis. ( 27007510 )
2016
28
A Case of Chromosomal Disorders of Sex Development with Transverse Testicular Ectopia Mimicking Mixed Gonadal Dysgenesis. ( 27765586 )
2016
29
Gonadal dysgenesis in disorders of sex development: Diagnosis and surgical management. ( 27769830 )
2016
30
Imaging Findings in Dysgerminoma in a Case of 46 XY, Complete Gonadal Dysgenesis (Swyer syndrome). ( 27790550 )
2016
31
An isodicentric X chromosome with gonadal dysgenesis in a lady without prominent somatic features of Turner's syndrome. A case report. ( 25618587 )
2015
32
Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis. ( 25813279 )
2015
33
Pure gonadal dysgenesis (46 XX type) with a familial pattern. ( 26430655 )
2015
34
A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis. ( 26438105 )
2015
35
WT1 Deletion Leading to Severe 46,XY Gonadal Dysgenesis, Wilms Tumor and Gonadoblastoma: Case Report. ( 25613702 )
2015
36
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. ( 26485283 )
2015
37
Association of immunohistochemical markers with premalignancy in Gonadal Dysgenesis. ( 26089923 )
2015
38
Genetics: Mutation implicated in XX gonadal dysgenesis. ( 26525876 )
2015
39
A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar. ( 25569267 )
2015
40
A rare cause of primary amenorrhoea, the XY female with gonadal dysgenesis. ( 25666240 )
2015
41
Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene. ( 26817010 )
2015
42
A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis. ( 26871559 )
2015
43
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. ( 26544196 )
2015
44
An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation. ( 26316442 )
2015
45
46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing. ( 25927242 )
2015
46
A Novel Hemizygous Mutation of MAMLD1 in a Patient with 46,XY Complete Gonadal Dysgenesis. ( 25660412 )
2015
47
Identification of X Monosomy Cells From a Gonad of Mixed Gonadal Dysgenesis With a 46,XY Karyotype: Case Report. ( 25860218 )
2015
48
45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction. ( 24554973 )
2014
49
Long-term growth hormone treatment in a boy with 45,X/46,X,idic(Yp) mixed gonadal dysgenesis: comparison with growth pattern of an untreated patient. ( 25402381 )
2014
50
State of the art review in gonadal dysgenesis: challenges in diagnosis and management. ( 24731683 )
2014

Variations for Gonadal Dysgenesis

Expression for Gonadal Dysgenesis

Search GEO for disease gene expression data for Gonadal Dysgenesis.

Pathways for Gonadal Dysgenesis

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

id Super pathways Score Top Affiliating Genes
1 10.83 BMP15 FSHR GDF9
2 10.3 FSHR GDF9 NR5A1

GO Terms for Gonadal Dysgenesis

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

(show all 33)
id Name GO ID Score Top Affiliating Genes
1 spermatogenesis GO:0007283 9.98 DMRT1 FSHR NR0B1 SOX9 TSPY1
2 positive regulation of gene expression GO:0010628 9.94 AMH FGF9 NR5A1 SOX9
3 cell-cell signaling GO:0007267 9.93 AMH DHH FGF9 NR5A1
4 BMP signaling pathway GO:0030509 9.79 AMH BMP15 GDF9
5 regulation of MAPK cascade GO:0043408 9.74 BMP15 FSHR GDF9
6 sex differentiation GO:0007548 9.73 AMH DMRT1 SRY TSPY1
7 female gonad development GO:0008585 9.72 FOXL2 FSHR NR5A1
8 female gamete generation GO:0007292 9.71 BMP15 FSHR GDF9
9 adrenal gland development GO:0030325 9.7 NR0B1 NR5A1 WT1
10 male gonad development GO:0008584 9.7 DMRT1 FGF9 FSHR NR0B1 NR5A1 SOX9
11 Sertoli cell development GO:0060009 9.67 DMRT1 FSHR SOX9
12 gonad development GO:0008406 9.67 AMH FSHR NR0B1 WT1
13 hormone-mediated signaling pathway GO:0009755 9.65 FSHR NR5A1
14 positive regulation of mesenchymal cell proliferation GO:0002053 9.65 FGF9 SOX9
15 gonadal mesoderm development GO:0007506 9.65 AMH TSPY1 ZFPM2
16 tissue development GO:0009888 9.64 NR5A1 WT1
17 Sertoli cell differentiation GO:0060008 9.63 DMRT1 NR0B1 SOX9
18 uterus development GO:0060065 9.62 FOXL2 FSHR
19 Leydig cell differentiation GO:0033327 9.6 DHH NR0B1
20 regulation of steroid biosynthetic process GO:0050810 9.59 DHH NR5A1
21 negative regulation of female gonad development GO:2000195 9.58 NR5A1 WT1 ZFPM2
22 oocyte growth GO:0001555 9.56 FOXL2 GDF9
23 sex determination GO:0007530 9.56 AMH NR0B1 NR5A1 WT1
24 male sex determination GO:0030238 9.43 DHH DMRT1 FGF9 NR0B1 SOX9 SRY
25 positive regulation of male gonad development GO:2000020 9.1 DMRT1 NR5A1 SOX9 SRY WT1 ZFPM2
26 regulation of transcription, DNA-templated GO:0006355 10.26 DMRT1 FOXL2 NR0B1 NR5A1 SOX9 SRY
27 transcription, DNA-templated GO:0006351 10.25 DMRT1 FOXL2 NR0B1 NR5A1 SOX9 SRY
28 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.11 DMRT1 FOXL2 NR5A1 SOX9 WT1 ZFPM2
29 negative regulation of transcription from RNA polymerase II promoter GO:0000122 10.05 DMRT1 FGF9 FOXL2 NR0B1 WT1 ZFPM2
30 positive regulation of transcription, DNA-templated GO:0045893 10.05 BMP15 FOXL2 NR5A1 SOX9 SRY WT1
31 transcription from RNA polymerase II promoter GO:0006366 10.02 DMRT1 FOXL2 NR5A1 SOX9 WT1
32 cell differentiation GO:0030154 10.02 AMH DMRT1 FGF9 FOXL2 NR0B1 NR5A1
33 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:

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.91 DMRT1 FOXL2 NR0B1 NR5A1 PSMC3IP SOX9
2 transcription factor activity, sequence-specific DNA binding GO:0003700 9.85 DMRT1 FOXL2 NR5A1 SOX9 SRY WT1
3 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.5 NR5A1 SOX9 SRY
4 growth factor activity GO:0008083 9.46 AMH BMP15 FGF9 GDF9
5 transforming growth factor beta receptor binding GO:0005160 9.13 AMH BMP15 GDF9
6 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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