MCID: GND004
MIFTS: 47

Gonadal Dysgenesis malady

Summaries for Gonadal Dysgenesis

Sources:
8Disease Ontology, 64Wikipedia, 33MalaCards
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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. Related mouse phenotypes are embryogenesis and reproductive system.

Wikipedia:64 Gonadal dysgenesis is any congenital developmental disorder of the reproductive system characterized by... more...

Aliases & Classifications for Gonadal Dysgenesis

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 61UMLS, 57SNOMED-CT, 40NCIt, 27ICD9CM, 35MeSH
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Aliases & Descriptions:

gonadal dysgenesis 8 43 10 61
gonadal dysgenesis syndrome 8
gonadal dysgenesis nos 8


External Ids:

Disease Ontology8 DOID:14447
ICD9CM27 758.6
MeSH35 D006059

Related Diseases for Gonadal Dysgenesis

Sources:
17GeneCards, 18GeneDecks
See all sources

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 144)
idRelated DiseaseScoreTop Affiliating Genes
1mixed gonadal dysgenesis31.6CYP21A2, SRY
2gonadoblastoma31.4SRY, WT1
3swyer syndrome31.2SRY, DHH
4dysgerminoma31.1WT1, CGB5, SRY
5turner syndrome31.0SRY, CYP21A2, CGB
6short stature30.7SRY, CYP21A2, NR0B1
7amenorrhea30.7SRY
8denys-drash syndrome30.7NR5A1, WT1
9frasier syndrome30.6WT1, SRY
10wilms tumor30.6WT1, NR5A1, NR0B1, SRY
1146,xy disorder of sex development and 46,xy complete gonadal dysgenesis30.5NR5A1, NR0B1, DHH, WNT4, SRY
12androgen insensitivity syndrome30.5SRY, HSD17B1P1
13precocious puberty30.3CGB5, NR0B1, CYP21A2
14hypospadias30.1WT1, NR5A1, CYP21A2, SRY
15germinoma30.1CYP21A2, CGB, CGB5
16kallmann syndrome30.1NR0B1, NR5A1, CGB5
17infertility30.1AZF1, CGB, NR5A1, CYP21A2, DAZ4, SRY
18n syndrome10.6
19anorexia nervosa10.5
20adenocarcinoma10.4
21gonadal dysgenesis, xx type10.4
22ovarian dysgenesis 110.4
23ovarian gonadoblastoma10.4
2446 xy gonadal dysgenesis10.4
25mayer-rokitansky-kuster-hauser syndrome10.4
26kuster syndrome10.4
27gonadal dysgenesis xy type associated anomalies10.4
28mental retardation10.4
29testicular gonadoblastoma10.3
30premature ovarian failure10.3
3146 xx gonadal dysgenesis10.3
32graves' disease10.3
3346xy partial gonadal dysgenesis, with minifascicular neuropathy10.3
34lung fibrosis - immunodeficiency - 46,xx gonadal dysgenesis10.3
3545,x/46,xy mixed gonadal dysgenesis10.3
36alopecia universalis10.2
37premature menopause10.2
38pseudopseudohypoparathyroidism10.2
39alopecia10.2
40dwarfism10.2
41short syndrome10.2
42growth hormone deficiency10.2
4346xy sex reversal 610.2
4446xy sex reversal 310.2
45cystadenoma10.1
46cystic fibrosis10.1
47sensorineural hearing loss10.1
48autistic disorder10.1
49achondroplasia10.1
50clear cell adenocarcinoma10.1

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



Diseases related to gonadal dysgenesis

Clinical Features for Gonadal Dysgenesis

Drugs & Therapeutics for Gonadal Dysgenesis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Anatomical Context for Gonadal Dysgenesis

Animal Models for Gonadal Dysgenesis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Gonadal Dysgenesis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.9DMRT2, WNT4, AMHR2, SOX3, NR5A1, MFN2
2MP:00053899.5AMHR2, SRY, WNT4, DHH, CBX2, NR0B1
3MP:00053799.4SRY, WT1, WNT4, DHH, CBX2, NR0B1

Publications for Gonadal Dysgenesis

Sources:
51PubMed
See all sources

Articles related to Gonadal Dysgenesis:

(show top 50)    (show all 545)
idTitleAuthorsYear
1
In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis. (23786321)
2013
2
Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants. (24192396)
2013
3
Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases. (21982289)
2011
4
Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter? (20583182)
2010
5
Bilateral gonadoblastomas with unilateral dysgerminoma in a case of 46 XY pure gonadal dysgenesis (Swyer syndrome). (20551568)
2010
6
Diagnosis and management of 46,XY mixed gonadal dysgenesis and disorder of sexual differentiation]. (19535881)
2009
7
Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters--a new syndrome. (17937424)
2008
8
High incidence of Y-chromosome microdeletions in gonadal tissues from patients with 45,X/46,XY gonadal dysgenesis. (17531235)
2008
9
Short stature in a phenotypic male caused by mixed gonadal dysgenesis. (18648333)
2008
10
A case of torsion of a mucinous cystadenoma in triple-X syndrome with pure gonadal dysgenesis. (16408186)
2006
11
A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis. (16106197)
2005
12
Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome. (14691719)
2004
13
Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism. (15223166)
2004
14
46, XY pure gonadal dysgenesis: a case with Graves' disease and exceptionally tall stature. (11518114)
2001
15
Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis. (11694229)
2001
16
Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature. (10946905)
2000
17
Mixed gonadal dysgenesis: a syndrome of broad clinical, cytogenetic and histopathologic spectrum. (10546094)
1999
18
SRY mutation and tumor formation on the gonads of XP pure gonadal dysgenesis patients. (10459352)
1999
19
Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome. (9718353)
1998
20
Brenner tumor in 46,XY gonadal dysgenesis. (11770612)
1997
21
Pituitary hyperplasia in a girl with gonadal dysgenesis and primary hypothyroidism. (9050952)
1997
22
Nephropathy with Wilms tumour or gonadal dysgenesis: incomplete Denys-Drash syndrome or separate diseases? (7556327)
1995
23
A novel mutation localized in the 3' non-HMG box region of the SRY gene in 46,XY gonadal dysgenesis. (7981695)
1994
24
True histiocytic malignancy associated with a malignant teratoma in a patient with 46XY gonadal dysgenesis. (1346359)
1992
25
Social, educational and vocational status of 48 young adult females with gonadal dysgenesis. (1424173)
1992
26
Laparoscopic gonadectomy for gonadal dysgenesis. (2137100)
1990
27
Partial androgen receptor deficiency and mixed gonadal dysgenesis in Drash syndrome. (3026952)
1987
28
Ontogeny of gonadotropin secretion in congenital anorchism: sexual dimorphism versus syndrome of gonadal dysgenesis and diagnostic considerations. (3114503)
1987
29
Gonadoblastomas in 46,XY gonadal dysgenesis: the significance of intra-abdominal exploration during appendectomy. (3947873)
1986
30
Perinatal oocyte loss in XO mice and its implications for the aetiology of gonadal dysgenesis in XO women. (3906118)
1985
31
LH concentrations in two cattle with XY gonadal dysgenesis. (6379172)
1984
32
46,X,i(Xq)/45,X mosaicism with gonadal dysgenesis associated with 21p-. (6231140)
1984
33
Effect of anorexia nervosa on gonadotrophin secretion in a patient with gonadal dysgenesis. (6810617)
1982
34
H-Y antigen expression in a case of mixed gonadal dysgenesis. (6169618)
1981
35
Pure gonadal dysgenesis in a triple-x female. (7302938)
1981
36
Renal failure wit XY gonadal dysgenesis: report of the second case. (7443120)
1980
37
XY gonadal dysgenesis in a heifer. (7193378)
1980
38
Aberrant testicular differentiation in 46,XY gonadal dysgenesis: morphology, endocrinology, serology. (7203465)
1980
39
Gonadal dysgenesis in a neonate with 45,X/47,XXX karyotype. (7434061)
1980
40
An abnormal dicentric X chromosome in a patient with short stature and gonadal dysgenesis. (316668)
1979
41
Gonadal dysgenesis variants in sisters: a hitherto undescribed combination. (35412)
1979
42
A reciprocal translocation (X;11) in a female with gonadal dysgenesis. (519895)
1979
43
Y-autosome translocation, gonadal dysgenesis, and gonadoblastoma. (570803)
1979
44
46,XX gonadal dysgenesis associated with congenital nerve deafness. (42575)
1979
45
XY gonadal dysgenesis with gonadoblastoma discovered after kidney transplantation. (331956)
1977
46
Cytogenetic studies in gonadal dysgenesis with dysgerminoma. (984113)
1976
47
The early stage of a neoplastic growth in the testis of a patient with mixed gonadal dysgenesis--ultrastructural and histological observation. (4472693)
1974
48
Gonadoblastoma associated with pure gonadal dysgenesis. Report of a 10-year-old girl with 46, XY karyotype. (4810703)
1974
49
"Mixed" gonadal dysgenesis, a case with male phenotype and 45,X-46,XY mosaicism. (5535982)
1970
50
Mixed gonadal dysgenesis with XO-XY mosaicism in multiple tissues. Report of a case. (5465438)
1970

Genetic Variations for Gonadal Dysgenesis

Expression for genes affiliated with Gonadal Dysgenesis

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

Search GEO for disease gene expression data for Gonadal Dysgenesis.

Pathways for genes affiliated with Gonadal Dysgenesis

Compounds for genes affiliated with Gonadal Dysgenesis

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience, 50PharmGKB
See all sources

Compounds related to Gonadal Dysgenesis according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1oestriol4510.6CGB5, CGB
2deoxyribonucleic acid4510.6SRY, CYP21A2, WT1
33beta-hydroxysteroid4510.6CYP21A2, NR5A1, CGB5
4dmrt4510.6WT1, NR5A1, NR0B1, SRY
5clomiphene citrate4510.6CYP21A2, CGB, CGB5
617beta-hydroxysteroid4510.6CGB5, NR5A1, CYP21A2
7dehydroepiandrosterone sulfate4510.5CGB5, NR5A1, CYP21A2
817-hydroxypregnenolone4510.5CYP21A2, CGB5
9dhea4510.5CYP21A2, NR5A1, CGB5
10aminoglutethimide45 1111.5CYP21A2, CGB5
11acth4510.5CGB5, NR5A1, NR0B1, CYP21A2
12androstenedione45 2411.4CYP21A2, CGB, CGB5
1322r-hydroxycholesterol45 2911.4CGB5, NR5A1
14corticosterone45 60 2412.4CGB5, NR5A1, CYP21A2
15gnrh4510.4CGB5, CGB, NR5A1, NR0B1, CYP21A2
16ribonucleic acid4510.4WT1, CGB5, NR5A1, CYP21A2
17estradiol45 11 2412.4CGB5, CGB, NR5A1, CYP21A2, SRY
18leuprolide acetate4510.4CYP21A2, CGB5
19hpaii4510.4NR0B1, WT1
20vincristine45 50 1112.4CGB, CGB5, WT1
21steroid4510.4WT1, CGB5, NR5A1, NR0B1, CYP21A2, SRY
22ctp4510.3CGB5, CGB
23progesterone45 60 29 11 2414.2WT1, CGB5, CGB, NR5A1, NR0B1, CYP21A2
24estrogen4510.2WT1, CGB5, CGB, NR5A1, NR0B1, CYP21A2
25zinc45 2411.1SRY, NR0B1, NR5A1, CGB5, WT1
26forskolin45 50 1112.0CYP21A2, NR5A1, CGB5, WT1
27testosterone45 60 11 2413.0SRY, AMHR2, WT1, CGB5, CGB, NR5A1
28dihydrotestosterone45 29 11 2412.9CGB5, CYP21A2, SRY

GO Terms for genes affiliated with Gonadal Dysgenesis

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet