Gonadal Dysgenesis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Gonadal Dysgenesis

MalaCards integrated aliases for Gonadal Dysgenesis:

Name: Gonadal Dysgenesis ¹¹ ¹⁹ ⁷⁵ ²⁸ ⁵ ⁴³ ¹⁴ ⁷¹

Gonadal Dysgenesis Syndrome ¹¹

Turner Syndrome ⁷¹

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:14447

ICD9CM ³⁴ 758.6

MeSH ⁴³ D006059

NCIt ⁴⁹ C61420

SNOMED-CT ⁶⁸ 268356004

UMLS ⁷¹ C0018051 C0041408

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Summaries for Gonadal Dysgenesis

Disease Ontology: ¹¹ A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.

MalaCards based summary: Gonadal Dysgenesis, also known as gonadal dysgenesis syndrome, is related to turner syndrome and mixed gonadal dysgenesis. An important gene associated with Gonadal Dysgenesis is MT-TE (Mitochondrially Encoded TRNA-Glu (GAA/G)), and among its related pathways/superpathways are Nervous system development and Kisspeptin/kisspeptin receptor system in the ovary. The drugs Estradiol and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include cortex, bone and liver, and related phenotypes are Increased shRNA abundance (Z-score > 2) and homeostasis/metabolism

Wikipedia: ⁷⁵ Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system in... more...

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Related Diseases for Gonadal Dysgenesis

Diseases in the Gonadal Dysgenesis family:

46 Xx Gonadal Dysgenesis

Diseases related to Gonadal Dysgenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 418)

#	Related Disease	Score	Top Affiliating Genes
1	turner syndrome	33.2	SRY NR0B1 BMP15 AMH
2	mixed gonadal dysgenesis	33.1	SRY SOX9 NR5A1 NR0B1 DMRT1 AMH
3	46,xx sex reversal 1	32.8	SRY SOX9 PSMC3IP NR5A1 NR0B1 FSHR
4	perrault syndrome	32.7	PSMC3IP GDF9 FOXL2 BMP15
5	45,x/46,xy mixed gonadal dysgenesis	32.7	ZFPM2 SRY NR5A1 NR0B1 DMRT1 DHH
6	frasier syndrome	32.6	WT1 SRY SOX9 NR5A1 NR0B1
7	46 xx gonadal dysgenesis	32.5	PSMC3IP GDF9 FSHR FOXL2 BMP15 AMH
8	46,xy sex reversal	32.5	ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1
9	46,xy partial gonadal dysgenesis	32.4	ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1
10	ovarian dysgenesis 2	32.1	NR0B1 DMRT1 BMP15
11	campomelic dysplasia	32.1	SRY SOX9 NR5A1 FOXL2 DMRT1
12	46,xx sex reversal	31.7	WT1 SRY SOX9 NR5A1 NR0B1 FOXL2
13	syndrome with 46,xy disorder of sex development	31.6	SRY NR5A1
14	gonadoblastoma	31.6	WT1 SRY SOX9 NR5A1 NR0B1 FOXL2
15	amenorrhea	31.5	NR5A1 GDF9 FSHR FOXL2 BMP15
16	hypospadias	31.4	WT1 SRY SOX9 NR5A1
17	androgen insensitivity syndrome	31.2	SRY NR5A1 NR0B1 DMRT1 AMH
18	wilms tumor 1	31.2	WT1 SOX9 NR5A1 NR0B1
19	hypogonadotropic hypogonadism	31.0	SOX9 NR5A1 NR0B1 FSHR DMRT1 AMH
20	mixed germ cell cancer	31.0	DMRT1 AMH
21	wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	30.8	WT1 NR5A1 DMRT2 DMRT1
22	chromosome 9p deletion syndrome	30.8	DMRT2 DMRT1
23	hermaphroditism	30.8	ZFPM2 SOX9 NR5A1 NR0B1 FOXL2 DMRT2
24	uterine hypoplasia	30.7	PSMC3IP BMP15
25	complete androgen insensitivity syndrome	30.7	SRY NR5A1 NR0B1 DMRT1 AMH
26	premature menopause	30.6	WT1 SOX9 PSMC3IP NR5A1 NR0B1 GDF9
27	azoospermia	30.6	WT1 PSMC3IP NR5A1 NR0B1 FSHR AMH
28	kallmann syndrome	30.6	NR5A1 NR0B1 FSHR AMH
29	pseudohermaphroditism	30.5	WT1 SRY SOX9 NR5A1 NR0B1 FSHR
30	lipoid congenital adrenal hyperplasia	30.5	SRY NR5A1 NR0B1 FSHR DMRT1 AMH
31	inguinal hernia	30.5	WT1 NR5A1 DMRT1 AMH
32	cryptorchidism, unilateral or bilateral	30.5	ZFPM2 WT1 SOX9 NR5A1 NR0B1 MAP3K1
33	premature ovarian failure 1	30.4	GDF9 FSHR FOXL2 BMP15 AMH
34	ovarian germ cell cancer	30.4	WT1 AMH
35	46,xy sex reversal 2	30.4	WT1 SOX9 NR5A1 NR0B1 FOXL2
36	androgen insensitivity, partial	30.3	NR5A1 NR0B1 AMH
37	leydig cell hypoplasia	30.3	NR5A1 FSHR AMH
38	infertility	30.2	NR5A1 GDF9 FSHR FOXL2 BMP15 AMH
39	ovarian gonadoblastoma	30.2	WT1 SOX9 NR0B1 DMRT2 DMRT1
40	male infertility	30.2	SRY MT-ATP6 FSHR DMRT1 AMH
41	ovarian disease	30.1	GDF9 FSHR FOXL2 BMP15 AMH
42	fanconi anemia, complementation group a	30.0	PSMC3IP GDF9 FSHR FOXL2 BMP15
43	disorder of sexual development	30.0	ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1
44	polycystic ovary syndrome	30.0	GDF9 FSHR BMP15 AMH
45	persistent mullerian duct syndrome	29.7	ZFPM2 WT1 SOX9 NR5A1 NR0B1 MAP3K1
46	ovarian dysgenesis 1	11.8
47	myoectodermal gonadal dysgenesis syndrome	11.8
48	46,xy gonadal dysgenesis with minifascicular neuropathy	11.8
49	46,xy sex reversal 1	11.7
50	46,xy sex reversal 7	11.6

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

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Symptoms & Phenotypes for Gonadal Dysgenesis

GenomeRNAi Phenotypes related to Gonadal Dysgenesis according to GeneCards Suite gene sharing:

²⁵ (show all 22)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-102	9.72	NR5A1
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-125	9.72	MAP3K1
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-132	9.72	CBX2 MAP3K1 NR5A1
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-158	9.72	CBX2
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-161	9.72	BMP15
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-166	9.72	MAP3K1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-173	9.72	NR5A1
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-184	9.72	NR5A1
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-187	9.72	CBX2
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-193	9.72	CBX2
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-202	9.72	NR5A1
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-22	9.72	MAP3K1
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-25	9.72	CBX2
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-26	9.72	CBX2
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-28	9.72	CBX2
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	9.72	NR5A1
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-60	9.72	MAP3K1
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-79	9.72	BMP15
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-81	9.72	MAP3K1
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.72	MAP3K1
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-91	9.72	BMP15 MAP3K1
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-92	9.72	CBX2

MGI Mouse Phenotypes related to Gonadal Dysgenesis:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.07	AMH DHH FOXL2 FSHR GDF9 MAP3K1
2	endocrine/exocrine gland	MP:0005379	10.03	AMH BMP15 CBX2 DHH DMRT1 FOXL2
3	cellular	MP:0005384	9.73	BMP15 CBX2 DMRT1 FOXL2 FSHR MAP3K1
4	reproductive system	MP:0005389	9.53	AMH BMP15 CBX2 DHH DMRT1 DMRT2

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Drugs & Therapeutics for Gonadal Dysgenesis

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

(show all 29)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Estradiol

Approved, Investigational, Vet_approved

Phase 4

50-28-2

5757

2

Polyestradiol phosphate

Approved

Phase 4

28014-46-2

3

Progesterone

Approved, Vet_approved

Phase 4

57-83-0

5994

4

Estrogens

Phase 4

5

Estradiol 3-benzoate

Phase 4

6

Estradiol 17 beta-cypionate

Phase 4

7

Hormones

Phase 4

8

Hormone Antagonists

Phase 4

9

Ethinylestradiol

Approved

Phase 3

57-63-6

5991

10

Oxandrolone

Approved, Investigational

Phase 3

53-39-4

5878

11

Medroxyprogesterone acetate

Approved, Investigational

Phase 3

520-85-4, 71-58-9

6279 10631

12

Contraceptive Agents

Phase 3

13

Antineoplastic Agents, Hormonal

Phase 3

14

Contraceptives, Oral, Hormonal

Phase 3

15

Contraceptives, Oral

Phase 3

16

Contraceptive Agents, Male

Phase 3

17

Anabolic Agents

Phase 2

18

Norethisterone

Approved

68-22-4

199472 6230

19

Racepinephrine

Approved, Vet_approved

51-43-4, 329-65-7

838 5816

20

Prasterone

Approved, Investigational, Nutraceutical

53-43-0

5881

21

Trisequens

22

Norethindrone Acetate

541197

23

Liver Extracts

24

Androgens

25

Epinephryl borate

26

Follicle Stimulating Hormone

27

DHEA (Dehydroepiandrosterone)

28

Insulin, Globin Zinc

29

Insulin

Interventional clinical trials:

(show top 50) (show all 90)

#	Name	Status	NCT ID	Phase	Drugs
1	Estrogen Dosing in Turner Syndrome:Pharmacology & Metabolism	Completed	NCT00837616	Phase 4	17 B estradiol orally;17 B estradiol
2	A Multi-center, Open, Single-arm, Switch-over, Prospective, Phase IV Study to Assess the Ease of Use, Preference, and Safety After 8 Weeks Subcutaneous Administration of EutropinPen Inj. in Patients Pretreated With Recombinant Human Growth Hormone by Reusable Device	Completed	NCT03015909	Phase 4	Somatropin
3	Collaborative Study to Assess the Effects of Treatment With Recombinant Growth Hormone Saizen® in the Prevention of Short Stature in Young Girls Suffering From Turner Syndrome Before the Age of 4 Years. Original French Title: Etude Collaborative Pour apprécier Les Effets du Traitement Par l'Hormone de Croissance Recombinante SAIZEN® Dans le Retard de Croissance de la Fillette Atteinte de Syndrome de Turner Avant l'âge de 4 Ans	Completed	NCT01066052	Phase 4	r-hGH
4	The Growth of Genitalia Interna and the Bone Mineralization Under Hormonal Replacement Therapy and the Presence of Aortic Root Dilatation in Girls With Turner Syndrome	Completed	NCT00134745	Phase 4	estradiol
5	Effect of Early Growth Hormone Treatment on Long-term Growth and Skeletal Maturation in Girls With Turner Syndrome	Completed	NCT00266656	Phase 4	Humatrope
6	A Phase IV Open-label Study of Predictive Markers in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children Treated With SAIZEN®	Completed	NCT00256126	Phase 4	Saizen
7	Dose Response Trial of Biosynthetic Authentic Human Growth Hormone and Induction of Puberty With 17b Oestradiol in Girls With Turner's Syndrome	Completed	NCT01518062	Phase 4	somatropin;oestrogen
8	Growth Response in Girls With Turner Syndrome During a Three-year GH Treatment Comparing Two Dose Regimens. Identification of Predictive Factors of Growth Response	Completed	NCT01734486	Phase 4	somatropin
9	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
10	Assessment of the Ease of Use of Norditropin NordiFlex® Relative to the One of the Device Previously Used by Patients or Parents	Completed	NCT01245374	Phase 4
11	The Effect of Recombinant Human Growth Hormone Treatment on the Growth of Infants and Toddlers With Turner Syndrome	Completed	NCT00406926	Phase 3	Somatropin
12	Estrogen Replacement in Hypogonadal Girls Treated With GH: Differential Effects of Mode of Estrogen Delivery	Completed	NCT00140998	Phase 3	17 beta estradiol
13	Humatrope Treatment to Final Height in Turner's Syndrome	Completed	NCT00191113	Phase 3	Somatropin;Ethinyl estradiol;Medroxyprogesterone acetate
14	The Effects of Androgen, Estrogen, and the Combination of Androgen and Estrogen on Growth Rate and Cognitive Function of Growth Hormone-treated Girls With Turner Syndrome	Completed	NCT00029159	Phase 3	estrogen;androgen
15	An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG (Recombinant Somatropin) Administered by ZomaJet Vision X	Completed	NCT00250250	Phase 3	ZOMACTON
16	Phase IIIB, International, Single Group, Open Study to Define an Optimal Monitoring of IGF-1 in Children Treated With NutropinAq, Using a Novel Capillary Blood Collection Method	Completed	NCT00234533	Phase 3	Somatropin (rDNA origin)
17	The Use of Norditropin® in Turner's Syndrome	Completed	NCT01518036	Phase 3	somatropin
18	An Open, Multi-Centre Trial Evaluating Acceptance of the New Liquid Growth Hormone Formulation - Norditropin Simplexx™ in Children With GH Deficiency	Completed	NCT01563926	Phase 3	somatropin
19	Induction of Puberty With 17-Beta Estradiol in Girls With Turner Syndrome. An Open Randomized Trial	Completed	NCT01710696	Phase 3	17-beta estradiol
20	Phase III Clinical Trial for Assessment of Efficacy and Safety of DA-3002 (Recombinant Human Growth Hormone) in Patients With Turner's Syndrome	Completed	NCT01813630	Phase 3	DA-3002;Genotropin®
21	A Study Comparing the Effect and Safety of Once Weekly Dosing of Somapacitan With Daily Norditropin® as Well as Evaluating Long-term Safety of Somapacitan in a Basket Study Design in Children With Short Stature Either Born Small for Gestational Age or With Turner Syndrome, Noonan Syndrome, or Idiopathic Short Stature	Recruiting	NCT05330325	Phase 3	Somapacitan;Norditropin®
22	A Phase 2 Study of Pegylated Recombinant Human Growth Hormone Injection to Treat Children of Turner Syndrome	Unknown status	NCT03189160	Phase 2
23	A Double-Blind, Randomized, Placebo-Controlled Trial of the Effect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients With Turner Syndrome	Completed	NCT00001221	Phase 2	Growth Hormone (Humatrope)
24	Estrogen Effects on Cognition in Girls With Turner Syndrome	Completed	NCT00001253	Phase 2
25	Turner Syndrome: Hormone Replacement Therapy	Completed	NCT00013546	Phase 2	TMTDS
26	Phase II Randomized Study of Oxandrolone vs Placebo for Growth Hormone-Treated Girls With Turner's Syndrome	Completed	NCT00004275	Phase 2	growth hormone;oxandrolone
27	The Relative Effects of Androgen, Estrogen, and the Combination of Androgen and Estrogen on Growth Rate, GH Binding Protein, IGF-I, and Cognitive Function in Growth Hormone-Treated Girls With Turner Syndrome	Completed	NCT00001343	Phase 2	Humatrope;Oxandrolone
28	Initiating Transdermal Estradiol Therapy in Turner's Syndrome	Terminated	NCT00870220	Phase 1	Norditropin, Menostar 14mcg patch, Vivelle dot 25mcg patch
29	Neuropsychological Assessment of Children and Adolescents With Turner Syndrome	Unknown status	NCT03812913
30	Prospective Characterization of the Heart, Aorta and Blood Pressure in Women With Turner Syndrome. Association With Aortic Dissection.	Unknown status	NCT01678274
31	National Collaborative Study of Girls Prenatally Diagnosed With Turner Syndrome Karyotypes	Unknown status	NCT01668251
32	The Risk of Venous Thrombosis in Women With Turner Syndrome	Unknown status	NCT00594763
33	Long Term Follow-up of Bone Mineral Density in Hormone Treated Turner Syndrome	Unknown status	NCT00625001
34	Aortic Dimensions, 24hour Ambulatory Blood Pressure and Sympathovagal Tone in Turner Syndrome. In Relation to Aortic Dilatation and Dissection.	Unknown status	NCT00624949
35	Whole Blood Specimen Collection From Pregnant Subjects	Unknown status	NCT02430584
36	Variability of Uterine and Breast Development in Response to Exogenous Oestrogen During Induction of Puberty in Individuals With Hypogonadism.	Unknown status	NCT02871986		Routine transdermal oestrogen patch
37	Observational Long-term Follow-up of the Phase IV Open-label Trial of Predictive Markers in GHD and TS Pre-pubertal Children Treated With Saizen	Completed	NCT00699855
38	Social Cognition and Turner Syndrome	Completed	NCT01687842
39	Ocular Impact of X Chromosome Karyotype and Sex Hormones in Turner Syndrome	Completed	NCT00471731
40	Evaluation of Convenience and Compliance of the Easypod™ Electronic Self-injector When Administering Saizen® Growth Hormone to Children With Growth Disorders	Completed	NCT00738205
41	Quantitative Liver Functions in Turner Syndrome With and Without Hormone Replacement Therapy	Completed	NCT00825617		Hormone replacement therapy
42	D3-Growth Hormone Receptor Polymorphism and Total Effect of Recombinant Human Growth Hormone on Growth in Girls With Turner Syndrome	Completed	NCT00443144		recombinant human growth hormone
43	Growth Hormone Treatment of Women With Turner Syndrome: Body Composition and Heart Function.	Completed	NCT00420654		Growth Hormone;Placebo
44	X-chromosome Inactivation, Epigenetics and the Transcriptome	Completed	NCT01678261
45	A Multicentre, Open Label, Non-interventional Study to Evaluate on Long-term Safety and Efficacy of Norditropin® Formulation in Child Patients With GHD or Turner Short Stature Without Closure of Epiphyseal Discs.	Completed	NCT01604161		somatropin
46	Sex Differences in Early Brain Development; Brain Development in Turner Syndrome	Completed	NCT00877942
47	Controlled Study of Estrogen Effects on Cognitive and Social Function in Girls With Turner's Syndrome	Completed	NCT00004274		Estrogen
48	Pilot Study of Health, Fitness, and Quality of Life in Adolescent Girls With Turner Syndrome	Completed	NCT03181230
49	Characterization of Subjects With Turner Syndrome Treated With Growth Hormone in the National Cooperative Growth Study (NCGS)	Completed	NCT00097552
50	Bone Mineral Density in Adolescent Subjects With Growth Hormone Deficiency Who Are Completing Treatment With Nutropin AQ, Nutropin, or Protropin in the National Cooperative Growth Study (NCGS)	Completed	NCT00097526

Search NIH Clinical Center for Gonadal Dysgenesis

Cochrane evidence based reviews: gonadal dysgenesis

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Genetic Tests for Gonadal Dysgenesis

Genetic tests related to Gonadal Dysgenesis:

#	Genetic test	Affiliating Genes
1	Gonadal Dysgenesis ²⁸

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Anatomical Context for Gonadal Dysgenesis

Organs/tissues related to Gonadal Dysgenesis:

MalaCards : Cortex, Bone, Liver, Whole Blood, Heart, Brain, Testis

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Publications for Gonadal Dysgenesis

Articles related to Gonadal Dysgenesis:

(show top 50) (show all 2544)

#	Title	Authors	PMID	Year
1	Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants. ⁶²	Mazel B...Nambot S	36082874	2022
2	Genomics of sexual cell fate transdifferentiation in the mouse gonad. ⁶²	Murphy MW...Zarkower D	36200842	2022
3	Steroidogenic factor 1 (NR5A1) induces multiple transcriptional changes during differentiation of human gonadal-like cells. ⁶²	Sepponen K...Tuuri T	36114074	2022
4	A conserved function of Human DLC3 and Drosophila Cv-c in testis development. ⁶²	Sotillos S...Castelli-Gair Hombria J	36326091	2022
5	Bilateral Gonadoblastoma in a 6-Year-old Girl With Frasier Syndrome: Need for Early Preventive Gonadectomy. ⁶²	Kollios K...Roilides E	35700406	2022
6	FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination. ⁶²	Croft B...Harley VR	36349847	2022
7	Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case. ⁶²	Lamanna B...Tatullo M	36430887	2022
8	Fertility in Individuals with Differences in Sex Development: Provider Knowledge Assessment. ⁶²	Finlayson C...Gomez-Lobo V	35296452	2022
9	Sex dimorphism of weight and length at birth: evidence based on disorders of sex development. ⁶²	Romero Amais DS...Guerra-Junior G	36218438	2022
10	WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review. ⁶²	Anderson E...Coman D	35211794	2022
11	Two Sisters with Kallmann Syndrome, Gonadal Dysgenesis, and Multiple Neuromuscular and Endocrine Disorders: Report of Two Cases with Description of an Unusual Association. ⁶²	Camacho M...Castelo-Branco C	35199317	2022
12	Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis. ⁶²	Meinel JA...Werner R	36227713	2022
13	Novel mutation of MAP3K1 gene in 46,XY DSD with complete gonadal dysgenesis. ⁶²	Yu PH...Kuo PL	36088066	2022
14	Stem Cells and Organs-on-chips: New Promising Technologies for Human Infertility Treatment. ⁶²	Tahmasbpour Marzouni E...Tucker EJ	34967858	2022
15	Effects of genomic instability in populations of Drosophila melanogaster from regions of Ukraine with different impact of radiation factors. ⁶²	Kravets A...Sokolova D	35930480	2022
16	Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated to 46,XY Gonadal Dysgenesis. ⁶²	Rjiba K...Mougou-Zerelli S	35984215	2022
17	Adnexal Torsion Due to Borderline Mucinous Tumor of the Gonad in a Prepubertal Girl with Mixed Gonadal Dysgenesis (45,X/46,XY) and a Turner Phenotype. ⁶²	Grenvik JM...Adeyemi-Fowode O	35045325	2022
18	Neovaginoplasty with tilapia fish skin: a series of eleven cases. ⁶²	Torres ATS...Bezerra LRPS	35312805	2022
19	MYRF: A New Regulator of Cardiac and Early Gonadal Development-Insights from Single Cell RNA Sequencing Analysis. ⁶²	Calonga-Solis V...Werner R	36013096	2022
20	Etiology and Secular Trends in Primary Amenorrhea in 856 Patients: A 17-Year Retrospective Multicenter Study in Korea. ⁶²	Kim H...Kang BM	35880506	2022
21	Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol). ⁶²	Fiot E...Leger J	35821070	2022
22	Dysgerminoma in a 15 years old phenotypically female Swyer syndrome with 46, XY pure gonadal dysgenesis: A case report. ⁶²	Ashraf Ganjooei T...Hashemieh M	35846908	2022
23	Surgical disorders in pediatric and adolescent gynecology: Vaginal and uterine anomalies. ⁶²	Mentessidou A...Mirilas P	35880405	2022
24	Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency. ⁶²	Nakagawa R...Kashimada K	35134173	2022
25	46, XY Disorders of Sexual Development: a case report and theoretical framework. ⁶²	Brambilla I...Riccipetitoni G	35666121	2022
26	Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism ⁶²	Krawczyk MA...Bien E	34544220	2022
27	Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development. ⁶²	Gomes NL...Mendonca BB	35134971	2022
28	A Successful New Case of Twin Pregnancy in a Patient with Swyer Syndrome-An Up-to-Date Review on the Incidence and Outcome of Twin/Multiple Gestations in the Pure 46,XY Gonadal Dysgenesis. ⁶²	Winkler I...Skrzypczak M	35564421	2022
29	The radiologist's role in assessing differences of sex development. ⁶²	Hryhorczuk AL...Chow JS	34355264	2022
30	A rare case of ovarian gonadoblastoma flourishing into malignant mixed germ cell tumour with review of literature. ⁶²	Patel T...Meena V	35402135	2022
31	Disorders of sexual development in the cat: Current state of knowledge and diagnostic approach. ⁶²	Foster RA	35209773	2022
32	Masculinizing surgery in disorders/differences of sex development: clinician- and participant-evaluated appearance and function. ⁶²	van de Grift TC...dsd-LIFE group	33587786	2022
33	Sexual Function in Women With Differences of Sex Development or Premature Loss of Gonadal Function. ⁶²	Engberg H...Hirschberg AL	34895859	2022
34	Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report. ⁶²	Zhytnik L...Salumets A	35123446	2022
35	Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis. ⁶²	Altunoglu U...Kayserili H	34750818	2022
36	A rare case of 46,XX gonadal dysgenesis, Mayer-Rokitansky-Kuster-Hauser syndrome, pituitary and thyroid hypoplasia. ⁶²	Ambachew R...Reja A	35142292	2022
37	Unusual combination of acute aortic dissection, Mayer-Rokitansky-Küster-Hauser syndrome, and 46,XX gonadal dysgenesis: A case report. ⁶²	Zeng Y...Tang H	36440024	2022
38	Pathogenic Variants in MAP3K1 Cause 46,XY Gonadal Dysgenesis: A Review. ⁶²	Ostrer H	35290982	2022
39	MAP3K1 Variant Causes Hyperactivation of Wnt4/β-Catenin/FOXL2 Signaling Contributing to 46,XY Disorders/Differences of Sex Development. ⁶²	Chen H...Wang C	35309143	2022
40	Case Report: Novel Compound Heterozygotic Variants in PPP2R3C Gene Causing Syndromic 46, XY Gonadal Dysgenesis and Literature Review. ⁶²	Zhang W...Wu X	35812758	2022
41	A Small Supernumerary Xp Marker Chromosome Including Genes NR0B1 and MAGEB Causing Partial Gonadal Dysgenesis and Gonadoblastoma. ⁶²	Nishi MY...Domenice S	34510040	2022
42	Genetics of 46,XY gonadal dysgenesis. ⁶²	Elzaiat M...Bashamboo A	35249806	2022
43	DMRT1: An Ancient Sexual Regulator Required for Human Gonadogenesis. ⁶²	Zarkower D...Murphy MW	34515237	2022
44	45,X/46,XY Mosaicism with Male Phenotype: Case Report. ⁶²	Carreno-Martinez AC...Contreras-Garcia GA	34929697	2022
45	Hereditary Gynecologic Cancer Syndromes - A Narrative Review. ⁶²	Kostov S...Yordanov A	35422633	2022
46	DHX37 and 46,XY DSD: A New Ribosomopathy? ⁶²	McElreavey K...Bashamboo A	35835064	2022
47	A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis. ⁶²	Mazen I...Abdel-Hamid MS	35045414	2022
48	Case Report: Long-term follow-up of desert hedgehog variant caused 46, XY gonadal dysgenesis with multiple complications in a Chinese child. ⁶²	Pan L...Wen P	36072668	2022
49	Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant. ⁶²	Alhamoudi KM...Alzahrani AS	35865014	2022
50	A 15-20-year follow-up of mental health, psychosocial functioning and quality of life in a single center sample of individuals with differences in sex development. ⁶²	Waehre A...Diseth T	36105256	2022

Sources

Genes for Gonadal Dysgenesis

Genes related to Gonadal Dysgenesis (1 elite genes):

(show all 42)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	MT-TE	Mitochondrially Encoded TRNA-Glu (GAA/G)	RNA Gene	400	Pathogenic ⁵
2	DHH	Desert Hedgehog Signaling Molecule	Protein Coding	35.86	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
3	SRY	Sex Determining Region Y	Protein Coding	30.3	GeneCards inferred via : Disorders Publications Summaries (show sections)
4	SOX9	SRY-Box Transcription Factor 9	Protein Coding	25.88	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
5	DMRT1	Doublesex And Mab-3 Related Transcription Factor 1	Protein Coding	25.71	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
6	MT-ATP6	Mitochondrially Encoded ATP Synthase Membrane Subunit 6	Protein Coding	25	Likely pathogenic ⁵
7	PPP2R3C	Protein Phosphatase 2 Regulatory Subunit B''Gamma	Protein Coding	22.99	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
8	NR5A1	Nuclear Receptor Subfamily 5 Group A Member 1	Protein Coding	18.04	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
9	NR0B1	Nuclear Receptor Subfamily 0 Group B Member 1	Protein Coding	17.37	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
10	AMH	Anti-Mullerian Hormone	Protein Coding	16.35	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
11	WT1	WT1 Transcription Factor	Protein Coding	16.08	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
12	BMP15	Bone Morphogenetic Protein 15	Protein Coding	15.56	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
13	FOXL2	Forkhead Box L2	Protein Coding	15.52	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
14	DMRT2	Doublesex And Mab-3 Related Transcription Factor 2	Protein Coding	15.34	DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)
15	MAP3K1	Mitogen-Activated Protein Kinase Kinase Kinase 1	Protein Coding	15.18	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
16	PSMC3IP	PSMC3 Interacting Protein	Protein Coding	14.95	DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)
17	FSHR	Follicle Stimulating Hormone Receptor	Protein Coding	14.9	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
18	CBX2	Chromobox 2	Protein Coding	14.71	DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)
19	ZFPM2	Zinc Finger Protein, FOG Family Member 2	Protein Coding	14.6	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
20	GDF9	Growth Differentiation Factor 9	Protein Coding	14.57	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
21	SOX3	SRY-Box Transcription Factor 3	Protein Coding	14.55	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
22	FGF9	Fibroblast Growth Factor 9	Protein Coding	14.33	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
23	AMHR2	Anti-Mullerian Hormone Receptor Type 2	Protein Coding	14.31	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
24	DHX37	DEAH-Box Helicase 37	Protein Coding	14.28	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
25	SHBG	Sex Hormone Binding Globulin	Protein Coding	13.75	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
26	NUP107	Nucleoporin 107	Protein Coding	13.64	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
27	POU5F1	POU Class 5 Homeobox 1	Protein Coding	13.45	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
28	ATRX	ATRX Chromatin Remodeler	Protein Coding	13.19	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
29	SPIDR	Scaffold Protein Involved In DNA Repair	Protein Coding	13.04	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
30	CTNNB1	Catenin Beta 1	Protein Coding	13.01	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
31	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	12.94	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
32	C2orf80	Chromosome 2 Open Reading Frame 80	Protein Coding	12.91	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
33	HHAT	Hedgehog Acyltransferase	Protein Coding	12.51	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
34	FTHL17	Ferritin Heavy Chain Like 17	Protein Coding	12.22	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
35	ESRRB	Estrogen Related Receptor Beta	Protein Coding	12.11	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
36	CGB5	Chorionic Gonadotropin Subunit Beta 5	Protein Coding	11.86	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
37	FLNB	Filamin B	Protein Coding	11.41	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
38	CGB3	Chorionic Gonadotropin Subunit Beta 3	Protein Coding	10.87	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
39	MFN2	Mitofusin 2	Protein Coding	10.71	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
40	MOCS1	Molybdenum Cofactor Synthesis 1	Protein Coding	10.57	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
41	SHOX	Short Stature Homeobox	Protein Coding	9.14	DISEASES inferred ¹⁴
42	EPRS1	Glutamyl-Prolyl-TRNA Synthetase 1	Protein Coding	8.53	DISEASES inferred ¹⁴ ¹⁴

Sources

Variations for Gonadal Dysgenesis

ClinVar genetic disease variations for Gonadal Dysgenesis:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MT-TE	NC_012920.1(MT-TE):m.14724G>A	SNV	Pathogenic	805947	rs1603224846	GRCh37: MT:14724-14724 GRCh38: MT:14724-14724
2	MT-ATP6	NC_012920.1(MT-ATP6):m.9049G>A	SNV	Likely Pathogenic	693064	rs1603222011	GRCh37: MT:9049-9049 GRCh38: MT:9049-9049
3	WT1	NM_024426.6(WT1):c.1321G>C (p.Asp441His)	SNV	Uncertain Significance	1683718		GRCh37: 11:32414245-32414245 GRCh38: 11:32392699-32392699

Sources

Expression for Gonadal Dysgenesis

Search GEO for disease gene expression data for Gonadal Dysgenesis.

Sources

Pathways for Gonadal Dysgenesis

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

#	Super pathways	Score	Top Affiliating Genes
1	Nervous system development ⁶⁶ Show member pathways Axon guidance ⁶⁶ Developmental Biology ⁶⁶	13.28	ZFPM2 WT1 SRY SOX9 NR5A1 DMRT1
2	Kisspeptin/kisspeptin receptor system in the ovary ⁷⁴	11.04	GDF9 FSHR BMP15 AMH
3	Mammalian disorder of sexual development ⁷⁴ Show member pathways Somatic sex determination ⁷⁴ Transcriptional regulation of testis differentiation ⁶⁶	11.01	ZFPM2 WT1 SRY SOX9 NR5A1 FOXL2
4	Ovarian infertility ⁷⁴	10.99	NR5A1 GDF9 FSHR
5	MAP3K1 role in promoting and blocking gonadal determination ⁷⁴	10.46	SRY SOX9 MAP3K1 FOXL2

Sources

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	chromatin	GO:0000785	9.53	ZFPM2 SRY SOX9 NR5A1 NR0B1 FOXL2

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

(show all 21)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of transcription by RNA polymerase II	GO:0045944	10.49	ZFPM2 WT1 SRY SOX9 NR5A1 FOXL2
2	negative regulation of transcription by RNA polymerase II	GO:0000122	10.46	ZFPM2 WT1 SRY SOX9 NR0B1 FOXL2
3	positive regulation of DNA-templated transcription	GO:0045893	10.35	FOXL2 NR5A1 PSMC3IP SOX9 SRY WT1
4	cell differentiation	GO:0030154	10.32	ZFPM2 SRY SOX9 FOXL2 DMRT1 CBX2
5	male gonad development	GO:0008584	10.17	DMRT1 FSHR NR0B1 NR5A1 SOX9 WT1
6	ovarian follicle development	GO:0001541	10.02	FSHR FOXL2 BMP15 AMH
7	adrenal gland development	GO:0030325	10	WT1 NR5A1 NR0B1
8	female gamete generation	GO:0007292	9.99	GDF9 FSHR BMP15
9	Leydig cell differentiation	GO:0033327	9.97	NR5A1 NR0B1 DHH AMH
10	female gonad development	GO:0008585	9.95	FOXL2 FSHR NR5A1
11	gonad development	GO:0008406	9.95	WT1 NR0B1 FSHR AMH
12	negative regulation of female gonad development	GO:2000195	9.93	ZFPM2 WT1 NR5A1
13	Sertoli cell differentiation	GO:0060008	9.92	DMRT1 NR0B1 NR5A1 SOX9
14	regulation of steroid biosynthetic process	GO:0050810	9.9	NR5A1 DHH
15	Sertoli cell development	GO:0060009	9.89	DMRT1 FSHR SOX9
16	gonadal mesoderm development	GO:0007506	9.88	AMH ZFPM2
17	sex differentiation	GO:0007548	9.81	SRY DMRT2 DMRT1 CBX2 AMH
18	sex determination	GO:0007530	9.8	WT1 NR5A1 NR0B1 AMH
19	oocyte growth	GO:0001555	9.71	GDF9 FOXL2
20	male sex determination	GO:0030238	9.7	DHH DMRT1 NR0B1 NR5A1 SOX9 SRY
21	positive regulation of male gonad development	GO:2000020	9.4	ZFPM2 WT1 SRY SOX9 NR5A1 DMRT1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA binding	GO:0003677	10.03	ZFPM2 WT1 SRY SOX9 PSMC3IP NR5A1
2	sequence-specific DNA binding	GO:0043565	9.28	WT1 SOX9 NR5A1 FOXL2 DMRT2 DMRT1
3	type I activin receptor binding	GO:0070698	9.26	GDF9 BMP15

Sources

Sources for Gonadal Dysgenesis

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: GND004 MIFTS: 48	Gonadal Dysgenesis Categories: Endocrine diseases, Fetal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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