MCID: GND004
MIFTS: 52

Gonadal Dysgenesis malady

Summaries for Gonadal Dysgenesis

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8Disease Ontology, 63Wikipedia, 32MalaCards
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Disease Ontology:8 A chromosomal disease that is haracterized by a progressive loss of germ cells on the developing gonads of an embryo.

MalaCards: Gonadal Dysgenesis, also known as gonadal dysgenesis syndrome, is related to mixed gonadal dysgenesis and gonadoblastoma. An important gene associated with Gonadal Dysgenesis is SRY (sex determining region Y). The compounds oestriol and deoxyribonucleic acid have been mentioned in the context of this disorder. Affiliated tissues include ovary, testis and bone, and related mouse phenotypes are embryogenesis and reproductive system.

Wikipedia:63 Gonadal dysgenesis is any congenital developmental disorder of the reproductive system characterized by... more...

Aliases & Classifications for Gonadal Dysgenesis

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 60UMLS, 56SNOMED-CT, 39NCIt, 27ICD9CM, 34MeSH
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Aliases & Descriptions:

gonadal dysgenesis 8 42 10 60
gonadal dysgenesis syndrome 8
gonadal dysgenesis nos 8


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Disease Ontology8 DOID:14447
ICD9CM27 758.6
MeSH34 D006059

Related Diseases for Gonadal Dysgenesis

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17GeneCards, 18GeneDecks
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Diseases in the Gonadal Dysgenesis family:

46 Xx Gonadal Dysgenesis 46 Xy Gonadal Dysgenesis
Gonadal Dysgenesis, Xx Type

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

(show top 50)    (show all 146)
idRelated DiseaseScoreTop Affiliating Genes
1mixed gonadal dysgenesis31.6CYP21A2, SRY
2gonadoblastoma31.4SRY, WT1
3swyer syndrome30.9SRY, DHH
4turner syndrome30.8SRY, CYP21A2, CGB
5hermaphroditism30.7SRY
6amenorrhea30.6SRY
7denys-drash syndrome30.6NR5A1, WT1
8pseudohermaphroditism30.6HSD17B1P1, AMHR2, WT1, SRY
946,xy disorder of sex development and 46,xy complete gonadal dysgenesis30.6NR5A1, NR0B1, DHH, WNT4, SRY
10hypogonadism30.5NR0B1, NR5A1, CGB5
11frasier syndrome30.5WT1, SRY
12androgen insensitivity syndrome30.4SRY, HSD17B1P1
13infertility30.3AZF1, CGB, NR5A1, CYP21A2, DAZ4, SRY
14hypopituitarism30.1SOX3, CYP21A2
15endometriosis30.1HSD17B1P1, NR5A1
16hypospadias30.1WT1, NR5A1, CYP21A2, SRY
17male infertility30.1AZF1, CYP21A2, DAZ4, SRY
18choriocarcinoma30.1CGB5, CGB, NR5A1
19down syndrome30.1SRY, CGB, CGB5
2046 xy gonadal dysgenesis10.7
2146 xx gonadal dysgenesis10.5
22gonadal disease10.5
23anorexia nervosa10.5
24adenocarcinoma10.4
25neuropathy10.4
26seminoma10.4
27gonadal dysgenesis, xx type10.4
28ovarian dysgenesis 110.4
29ovarian gonadoblastoma10.4
30gonadal dysgenesis xy type associated anomalies10.4
31testicular gonadoblastoma10.3
32premature ovarian failure10.3
33hypogonadotropism10.3
34nephrotic syndrome10.3
35sexual disorder10.3
3646xy partial gonadal dysgenesis, with minifascicular neuropathy10.3
37lung fibrosis - immunodeficiency - 46,xx gonadal dysgenesis10.3
3845,x/46,xy mixed gonadal dysgenesis10.3
39alopecia universalis10.2
40premature menopause10.2
41pseudopseudohypoparathyroidism10.2
42graves' disease10.2
43alopecia10.2
44endometrial adenocarcinoma10.2
45endometrial carcinoma10.2
46in situ carcinoma10.2
47inflammatory bowel disease10.2
48peripheral neuropathy10.2
49dwarfism10.2
5046xy sex reversal 610.2

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



Diseases related to gonadal dysgenesis

Clinical Features for Gonadal Dysgenesis

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Drugs & Therapeutics for Gonadal Dysgenesis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Gonadal Dysgenesis

Drug clinical trials:

Search ClinicalTrials for Gonadal Dysgenesis

Search NIH Clinical Center for Gonadal Dysgenesis

Search CenterWatch for Gonadal Dysgenesis

Genetic Tests for Gonadal Dysgenesis

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Anatomical Context for Gonadal Dysgenesis

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32MalaCards
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MalaCards organs/tissues related to Gonadal Dysgenesis:

32
Ovary, Testis, Bone, Breast, Kidney, Testes, Pituitary, Uterus, Thyroid, Heart, Lung, Cervix

Animal Models for Gonadal Dysgenesis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Gonadal Dysgenesis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.9SOX3, WT1, MFN2, DMRT2, NR5A1, WNT4
2MP:00053899.5SRY, AMHR2, SOX3, WT1, PSMC3IP, DMRT2
3MP:00053799.4PSMC3IP, WT1, SOX3, AMHR2, NR5A1, NR0B1

Publications for Gonadal Dysgenesis

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50PubMed
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Articles related to Gonadal Dysgenesis:

(show top 50)    (show all 544)
idTitleAuthorsYear
1
Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype. (21242195)
2011
2
Unexpected finding of an intact distal vagina in an infant with mixed gonadal dysgenesis. (22145487)
2011
3
A novel WT1 gene mutation in a patient with Wilms' tumor and 46, XY gonadal dysgenesis. (21384108)
2011
4
A case report of successful pregnancy in a patient with pure 46,XY gonadal dysgenesis. (18675968)
2008
5
Medical and psychosexual outcome in women affected by complete gonadal dysgenesis. (16995566)
2006
6
Laparoscopy in a patient with XY gonadal dysgenesis. (15922973)
2005
7
Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis. (15665984)
2005
8
Familial dysgerminoma associated with 46, XX pure gonadal dysgenesis. (15951888)
2005
9
Bilateral gonadoblastomas in a dog with mixed gonadal dysgenesis. (15003485)
2004
10
Video-assisted gonadectomy in children with Ullrich Turner syndrome or 46,XY gonadal dysgenesis. (15211408)
2004
11
Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser syndrome in a girl with 46,X,del(X)(pter-->q22:). (12552332)
2003
12
Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis. (12409269)
2002
13
Mixed gonadal dysgenesis and precocious puberty. (12169778)
2002
14
46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters. (11223846)
2001
15
Tall stature, gonadal dysgenesis, and stigmata of Turner's syndrome caused by a structurally altered X chromosome. (11174634)
2001
16
A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. (11017805)
2000
17
Twenty-four hour, non-invasive, neonatal chromosome analysis--application in a case of mixed gonadal dysgenesis. (11126707)
2000
18
Polyneuropathy with minifascicle formation in a patient with 46XY mixed gonadal dysgenesis. (10483790)
1999
19
46,XY gonadal dysgenesis associated with congenital nephrotic syndrome and sepsis. (10603151)
1999
20
Analysis of the SRY gene in gonadal tissue of subjects with 46,XY gonadal dysgenesis. (9024280)
1997
21
Bilateral dysgerminoma and gonadoblastoma in association with XY gonadal dysgenesis. (9107447)
1997
22
Testis-determining factor and gonadal dysgenesis. (9179658)
1997
23
Association of mixed gonadal dysgenesis and non-classic 21-hydroxylase deficiency]. (9033792)
1996
24
XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene. (7814028)
1995
25
Hydrocolpos in an 18-year-old man with mixed gonadal dysgenesis. (7673457)
1995
26
Lack of long-term diabetic complications in spite of poor glycemic control in twins with pure gonadal dysgenesis. (8612447)
1995
27
Embryonic testicular regression sequence: a part of the clinical spectrum of 46,XY gonadal dysgenesis. (8172233)
1994
28
Mixed gonadal dysgenesis with 45, X/46, XX/46, XY mosaicism. (8002080)
1994
29
Y chromosome analysis and laparoscopic surgery in XY pure gonadal dysgenesis: a case report and a review of literature. (8489475)
1993
30
Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis. (8496317)
1993
31
Anorexia nervosa and XY gonadal dysgenesis. (1591585)
1992
32
Nonreciprocal gonadal dysgenesis in hybrids of the chironomid midge Chironomus thummi. IV. Behavior of a female-specific protein, probably a vitellogenin. (2085312)
1990
33
Correlation of the testicular determinant factor sequence zinc finger Y with varying gonadal phenotypes in a series of 13 subjects with gonadal dysgenesis due to Y aneuploidy. (2256509)
1990
34
X-chromosomal monosomy (77,X0) in a Doberman Pinscher with gonadal dysgenesis. (2715962)
1989
35
Successful twin pregnancy after embryo donation to a patient with XY gonadal dysgenesis. (2764056)
1989
36
Coincidence of gonadal dysgenesis and hyperprolactinemia. (3150957)
1988
37
Gonadal dysgenesis induced by prenatal exposure to ethinyl estradiol in mice. (4049280)
1985
38
Oestrogens induce an LH surge in a prepubertal patient with 45,X gonadal dysgenesis under prolonged pulsatile LRH administration. (6402864)
1983
39
Pure gonadal dysgenesis with microscopic ovarian streak and gonadoblastoma. (7243126)
1981
40
Gonadal dysgenesis, intra-X chromosome insertion, and possible position effect in an otherwise normal female. (7296945)
1981
41
Evidence for dissociation between adrenarche and gonadarche: studies in patients with idiopathic precocious puberty, gonadal dysgenesis, isolated gonadotropin deficiency, and constitutionally delayed growth and adolescence. (6447708)
1980
42
Plasma levels of FSH and LH in patients with gonadal dysgenesis during sequential estrogen and progestogen therapy. (6779717)
1980
43
Plasma glycoprotein hormone alpha-subunit in the syndrome of gonadal dysgenesis: the effect of estrogen replacement in hypergonadotropic hypogonadism. (6246142)
1980
44
Subclinical Hashimoto's thyroiditis in gonadal dysgenesis. (6893832)
1980
45
Endometrial carcinoma in gonadal dysgenesis with and without estrogen therapy. (511005)
1979
46
Hybrid Dysgenesis in DROSOPHILA MELANOGASTER: Sterility Resulting from Gonadal Dysgenesis in the P-M System. (17248943)
1979
47
Y-21 translocation with gonadal and renal dysgenesis and cardiac rupture. (4416920)
1974
48
Virilization superimposed on Turner's syndrome: cytogenetic studies of a gonadal tumor in a patient with XO-XY mixed gonadal dysgenesis. (4683730)
1973
49
"Mixed" gonadal dysgenesis: a variety of hermaphroditism. (13989874)
1963
50
Gonadal histology in patients with male pseudohermaphroditism and atypical gonadal dysgenesis: relation to theories of sex differentiation. (13867601)
1962

Genetic Variations for Gonadal Dysgenesis

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Expression for genes affiliated with Gonadal Dysgenesis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gonadal Dysgenesis

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Pathways for genes affiliated with Gonadal Dysgenesis

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Compounds for genes affiliated with Gonadal Dysgenesis

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience, 49PharmGKB
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Compounds related to Gonadal Dysgenesis according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1oestriol4410.6CGB5, CGB
2deoxyribonucleic acid4410.6SRY, CYP21A2, WT1
33beta-hydroxysteroid4410.6CYP21A2, NR5A1, CGB5
4dmrt4410.6WT1, NR5A1, NR0B1, SRY
5clomiphene citrate4410.6CYP21A2, CGB, CGB5
617beta-hydroxysteroid4410.6CGB5, NR5A1, CYP21A2
7dehydroepiandrosterone sulfate4410.5CGB5, NR5A1, CYP21A2
817-hydroxypregnenolone4410.5CYP21A2, CGB5
9dhea4410.5CYP21A2, NR5A1, CGB5
10aminoglutethimide44 1111.5CYP21A2, CGB5
11acth4410.5CGB5, NR5A1, NR0B1, CYP21A2
12androstenedione44 2411.4CYP21A2, CGB, CGB5
1322r-hydroxycholesterol44 2811.4CGB5, NR5A1
14corticosterone44 59 2412.4CGB5, NR5A1, CYP21A2
15gnrh4410.4CGB5, CGB, NR5A1, NR0B1, CYP21A2
16ribonucleic acid4410.4WT1, CGB5, NR5A1, CYP21A2
17estradiol44 11 2412.4CGB5, CGB, NR5A1, CYP21A2, SRY
18leuprolide acetate4410.4CYP21A2, CGB5
19hpaii4410.4NR0B1, WT1
20vincristine44 49 1112.4CGB, CGB5, WT1
21steroid4410.4WT1, CGB5, NR5A1, NR0B1, CYP21A2, SRY
22ctp4410.3CGB5, CGB
23progesterone44 59 28 11 2414.2WT1, CGB5, CGB, NR5A1, NR0B1, CYP21A2
24estrogen4410.2WT1, CGB5, CGB, NR5A1, NR0B1, CYP21A2
25zinc44 2411.1SRY, NR0B1, NR5A1, CGB5, WT1
26forskolin44 49 1112.0CYP21A2, NR5A1, CGB5, WT1
27testosterone44 59 11 2413.0SRY, AMHR2, WT1, CGB5, CGB, NR5A1
28dihydrotestosterone44 28 11 2412.9CGB5, CYP21A2, SRY

GO Terms for genes affiliated with Gonadal Dysgenesis

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16Gene Ontology
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Biological processes related to Gonadal Dysgenesis according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of female gonad developmentGO:200019510.5WT1, NR5A1
2positive regulation of male gonad developmentGO:200002010.5WT1, NR5A1, SRY
3regulation of steroid biosynthetic processGO:05081010.5DHH, NR5A1
4male sex determinationGO:03023810.5SRY, DHH, NR0B1
5sex determinationGO:00753010.4DMRT2, WT1, SOX3
6mesenchymal to epithelial transitionGO:06023110.4WNT4, WT1
7adrenal gland developmentGO:03032510.4WNT4, NR0B1, NR5A1, WT1
8Leydig cell differentiationGO:03332710.3NR0B1, DHH
9tissue developmentGO:00988810.3NR5A1, WT1
10male gonad developmentGO:00858410.2SRY, WT1, DMRT2, NR5A1, NR0B1, WNT4
11hypothalamus developmentGO:02185410.2SOX3, NR0B1
12cell-cell signalingGO:00726710.2CGB, NR5A1, DHH, WNT4
13cell differentiationGO:0301549.9SRY, DAZ4, CBX2, NR5A1

Products for genes affiliated with Gonadal Dysgenesis

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Sources for Gonadal Dysgenesis

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3CDC
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25ICD10
26ICD10 via Orphanet
27ICD9CM
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