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

MCID: GND004 MIFTS: 50	Gonadal Dysgenesis Categories: Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases, Skin diseases
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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:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:14447

ICD9CM ³⁵ 758.6

MeSH ⁴⁴ D006059

NCIt ⁵⁰ C61420

SNOMED-CT ⁶⁸ 38804009

UMLS ⁷³ C0018051 C0041408

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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...

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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:

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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

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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

Lenograstim

Approved, Investigational

Phase 4

135968-09-1

Estradiol valerate

Approved, Investigational, Vet_approved

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

979-32-8

Estradiol

Approved, Investigational, Vet_approved

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

50-28-2

5757

Polyestradiol phosphate

Approved

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

28014-46-2

Progesterone

Approved, Vet_approved

Phase 4,Phase 3,Not Applicable,Early Phase 1

57-83-0

5994

Ethinyl Estradiol

Approved

Phase 4,Phase 3,Phase 2,Not Applicable

57-63-6

5991

Norethindrone

Approved

Phase 4,Not Applicable

68-22-4

6230

Ganirelix

Approved

Phase 4

123246-29-7, 124904-93-4

25081094

Vitamin C

Approved, Nutraceutical

Phase 4

50-81-7

5785 54670067

Lactitol

Investigational

Phase 4

585-86-4

3871

Deslorelin

Investigational, Vet_approved

Phase 4

57773-65-6

Immunologic Factors

Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1

Adjuvants, Immunologic

Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable

Hormones

Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1

Hormone Antagonists

Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable

Estrogens

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Estradiol 3-benzoate

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Estradiol 17 beta-cypionate

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Contraceptive Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Progestins

Phase 4,Phase 3,Not Applicable,Early Phase 1

Norinyl

Phase 4

Contraceptives, Oral

Phase 4,Phase 3,Phase 2,Not Applicable

Norethindrone acetate

Phase 4,Not Applicable

Norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination

Phase 4

Antineoplastic Agents, Hormonal

Phase 4,Phase 3,Phase 2,Phase 1

Triptorelin Pamoate

Phase 4

Luteolytic Agents

Phase 4

Oxandrolone

Approved, Investigational

Phase 3,Phase 2,Phase 1

53-39-4

5878

Medroxyprogesterone acetate

Approved, Investigational

Phase 3,Phase 2

71-58-9

Metronidazole

Approved

Phase 3

443-48-1

4173

Norgestimate

Approved, Investigational

Phase 3

35189-28-7

6540478

Racepinephrine

Approved

Phase 2, Phase 3

329-65-7

838

Epinephrine

Approved, Vet_approved

Phase 2, Phase 3

51-43-4

5816

Dehydroepiandrosterone

Approved, Investigational, Nutraceutical

Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1

53-43-0

5881

Androgens

Phase 3,Phase 2,Phase 1

Contraceptive Agents, Male

Phase 3,Phase 2

Medroxyprogesterone

Phase 3,Phase 2

520-85-4

10631

DHEA (Dehydroepiandrosterone)

Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1

Contraceptives, Oral, Combined

Phase 3

Epinephryl borate

Phase 2, Phase 3

Black Cohosh

Phase 3

Phytoestrogens

Phase 3

Leuprolide

Approved, Investigational

Phase 2

53714-56-0

657181 3911

Testosterone

Approved, Investigational

Phase 2,Phase 1

58-22-0

6013

Testosterone undecanoate

Approved, Investigational

Phase 1, Phase 2

5949-44-0

Methyltestosterone

Approved

Phase 1, Phase 2

58-18-4

6010

Testosterone enanthate

Approved

Phase 1, Phase 2

315-37-7

9416

Fludarabine

Approved

Phase 2

75607-67-9, 21679-14-1

30751

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

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Genetic Tests for Gonadal Dysgenesis

Genetic tests related to Gonadal Dysgenesis:

#	Genetic test	Affiliating Genes
1	Gonadal Dysgenesis ²⁹

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Anatomical Context for Gonadal Dysgenesis

MalaCards organs/tissues related to Gonadal Dysgenesis:

⁴¹

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

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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 )	Upadhyay K....Ostrer H.	2018
2	Cognitive abilities in women with complete androgen insensitivity syndrome and women with gonadal dysgenesis. ( 29884451 )	Strandqvist A....NordenstrAPm A.	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 )	Dicken B.J....Frazier A.L.	2018
4	CORRIGENDUM FOR &quot;A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis&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 )	Gomes N.L....Mendonca B.B.	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 )	Karahan F...Balc? Y	2018
11	A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis. ( 30032139 )	Mazen I...Kamah G	2018
12	In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis. ( 30298535 )	Tajouri A...Werner R	2018
13	Response to commentary to 'Gonadal dysgenesis in disorders of sex development (DSD): Diagnosis and surgical management'. ( 28153775 )	Wolffenbuttel K....Looijenga L.	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 )	Inui M....Takada S.	2017
15	MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature. ( 28504475 )	Granados A....Keegan C.E.	2017
16	Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis: a rare presentation. ( 29746049 )	Maharjan A....Li H.	2017
17	New NR5A1 mutations and phenotypic variations of gonadal dysgenesis. ( 28459839 )	Werner R....Hiort O.	2017
18	Normal pelvic ultrasound or MRI does not rule out neoplasm in patients with gonadal dysgenesis and Y chromosome material. ( 29317190 )	Ebert K.M....Jayanthi V.R.	2017
19	Clinical heterogeneity in children with gonadal dysgenesis associated with non-mosaic 46,XY karyotype. ( 28434637 )	Wong Y.S....Lee K.H.	2017
20	Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization. ( 29190620 )	RehkAomper J....Ledig S.	2017
21	Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis. ( 28787711 )	Tajouri A....Kharrat M.	2017
22	Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis. ( 28867417 )	Engberg H....FrisAcn L.	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 )	Simioni M....Gil-da-Silva-Lopes V.L.	2016
28	Mixed Gonadal Dysgenesis with an unusual &quot;inverted&quot; Y chromosome. ( 27941186 )	Makhija D....Desale J.	2016
29	A biallelic mutation in the homologous recombination repair gene SPIDR is associated with human gonadal dysgenesis. ( 27967308 )	Smirin-Yosef P....Basel-Vanagaite L.	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 )	Tam Y.H....Lee K.H.	2016
31	Clinical Features of 32 Patients with XO/XY Gonadal Dysgenesis. ( 27594153 )	Jiang J.F....Sun A.J.	2016
32	Retraction: Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene. ( 27777913 )		2016
33	A Novel Missense Mutation 224G&gt;T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis. ( 28030592 )	Fan W....Li L.	2016
34	A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. ( 28216916 )	Manne S....Badireddy M.	2016
35	Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis. ( 27169744 )	Mazen I....McElreavey K.	2016
36	Commentary to 'Gonadal dysgenesis in disorders of sex development (DSD): Diagnosis and surgical management'. ( 27876298 )	Diamond D.A.	2016
37	Evidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood. ( 27116846 )	Colindres J.V....Karaviti L.P.	2016
38	Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis. ( 28621097 )	Keskin M....Aycan Z.	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 )	Wolffenbuttel KP...Looijenga LH	2016
47	Pure gonadal dysgenesis (46 XX type) with a familial pattern. ( 26430655 )	Kohmanaee S....Rad A.H.	2015
48	A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. ( 26544196 )	Calvel P....Jaruzelska J.	2015
49	46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing. ( 25927242 )	Werner R....Hiort O.	2015
50	A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar. ( 25569267 )	Soheilipour F....Pazouki A.	2015

Sources

Genes for Gonadal Dysgenesis

Genes related to Gonadal Dysgenesis (0 elite genes):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	DHH	Desert Hedgehog	Protein Coding	53.58	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
2	SRY	Sex Determining Region Y	Protein Coding	47.02	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries (show sections)
3	SOX9	SRY-Box 9	Protein Coding	33.64	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
4	DMRT1	Doublesex And Mab-3 Related Transcription Factor 1	Protein Coding	33.57	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
5	NR5A1	Nuclear Receptor Subfamily 5 Group A Member 1	Protein Coding	25.55	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
6	TSPY1	Testis Specific Protein Y-Linked 1	Protein Coding	24.1	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
7	AMH	Anti-Mullerian Hormone	Protein Coding	23.76	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	NR0B1	Nuclear Receptor Subfamily 0 Group B Member 1	Protein Coding	23.69	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
9	WT1	Wilms Tumor 1	Protein Coding	23.46	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	PSMC3IP	PSMC3 Interacting Protein	Protein Coding	23.31	DISEASES inferred ¹⁵ GeneCards inferred via : Summaries (show sections)
11	BMP15	Bone Morphogenetic Protein 15	Protein Coding	22.78	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
12	MAP3K1	Mitogen-Activated Protein Kinase Kinase Kinase 1	Protein Coding	22.62	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
13	FOXL2	Forkhead Box L2	Protein Coding	22.59	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
14	SPIDR	Scaffold Protein Involved In DNA Repair	Protein Coding	22.34	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
15	ZFPM2	Zinc Finger Protein, FOG Family Member 2	Protein Coding	22.33	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
16	FSHR	Follicle Stimulating Hormone Receptor	Protein Coding	22.13	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
17	C2orf80	Chromosome 2 Open Reading Frame 80	Protein Coding	21.91	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
18	FGF9	Fibroblast Growth Factor 9	Protein Coding	21.7	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)

Sources

Variations for Gonadal Dysgenesis

Sources

Expression for Gonadal Dysgenesis

Search GEO for disease gene expression data for Gonadal Dysgenesis.

Sources

Pathways for Gonadal Dysgenesis

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	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

Sources for Gonadal Dysgenesis

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia