MCID: MXD016
MIFTS: 47

Mixed Gonadal Dysgenesis malady

Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories

Summaries for Mixed Gonadal Dysgenesis

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66Wikipedia, 34MalaCards
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Wikipedia:66 Mixed gonadal dysgenesis is a condition of unusual and asymmetrical gonadal development leading to an... more...

MalaCards: Mixed Gonadal Dysgenesis, also known as gonadal dysgenesis mixed, is related to gonadal dysgenesis and hermaphroditism. An important gene associated with Mixed Gonadal Dysgenesis is SRY (sex determining region Y), and among its related pathways is ALK2 signaling events. The compounds 17-hydroxypregnenolone and aminoglutethimide have been mentioned in the context of this disorder. Affiliated tissues include testis, testes and cervix, and related mouse phenotypes are homeostasis/metabolism and no phenotypic analysis.

Aliases & Classifications for Mixed Gonadal Dysgenesis

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9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 36MeSH
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Classifications:



Aliases & Descriptions:

mixed gonadal dysgenesis 9 11
gonadal dysgenesis mixed 44 46
gonadal dysgenesis, mixed 63


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Disease Ontology9 DOID:14449
SNOMED-CT59 205682006, 83579008
MeSH36 D006060

Related Diseases for Mixed Gonadal Dysgenesis

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18GeneCards, 19GeneDecks
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Diseases in the Mixed Gonadal Dysgenesis family:

45,x/46,xy Mixed Gonadal Dysgenesis

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

(show top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1gonadal dysgenesis31.8SOX9, DHH, SRY, WT1
2hermaphroditism30.8AMH, SRY
3gonadoblastoma30.8WT1, KIT, SRY
4pseudohermaphroditism30.6WT1, SRY, AMH, AMHR2, HSD17B1P1
5amenorrhea30.5AMH, SRY
6turner syndrome30.5SRY, CYP21A2
7precocious puberty30.4CGB5, AMH, CYP21A2
8germinoma30.4CGB5, KIT, CYP21A2
9hypospadias30.3WT1, SRY, CYP21A2
10dysgerminoma30.3SRY, KIT, WT1, CGB5
1145,x/46,xy mixed gonadal dysgenesis10.6
12denys-drash syndrome10.4
13adenocarcinoma10.4
14seminoma10.4
1521-hydroxylase deficiency10.2
16clear cell adenocarcinoma10.2
17aortic aneurysm10.2
18endometrial adenocarcinoma10.2
19nephrotic syndrome10.2
20polyneuropathy10.2
21aortic coarctation10.2
22growth hormone deficiency10.2
23aneurysm10.2
24short stature10.2
2546xy sex reversal 310.2
2646xx sex reversal 110.1SRY
27varicocele10.1AZF1
28androgen insensitivity syndrome10.1HSD17B1P1, SRY
2946,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.1SRY, DHH
30luteoma10.1CYP21A2, SRY
31persistent mullerian duct syndrome10.1AMHR2, AMH
32swyer syndrome10.1SOX9, SRY
33campomelic dysplasia10.1SOX9, SRY
34germ cell tumors10.1KIT
35ovarian disease10.1AMH, FOXL2
36congenital adrenal hyperplasia10.1SRY, CYP21A2
37anovulation10.1AMH, CYP21A2
38premature ovarian failure10.1AMH, FOXL2
39gynecomastia10.1SRY, CGB5
40adenomatoid tumor10.1WT1
41klinefelter's syndrome10.1DAZ4, AZF1, CYP21A2
42frasier syndrome10.0WT1, SRY
43polycystic ovary syndrome10.0CGB5, CYP21A2
44male infertility10.0DAZ4, AZF1, CYP21A2, SRY
45leydig cell tumor10.0CYP21A2, CGB5
46hyperandrogenism10.0CGB5, AMH, CYP21A2
47mesoblastic nephroma10.0KIT, WT1
48hypereosinophilic syndrome10.0KIT, WT1
49teratoma10.0KIT, CGB5
50clear cell sarcoma10.0KIT, WT1

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



Diseases related to mixed gonadal dysgenesis

Symptoms for Mixed Gonadal Dysgenesis

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Drugs & Therapeutics for Mixed Gonadal Dysgenesis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Mixed Gonadal Dysgenesis

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Anatomical Context for Mixed Gonadal Dysgenesis

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34MalaCards
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MalaCards organs/tissues related to Mixed Gonadal Dysgenesis:

34
Testis, Testes, Cervix

Animal Models for Mixed Gonadal Dysgenesis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Mixed Gonadal Dysgenesis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0AMH, AMHR2, SOX9, FOXL2, KIT, WT1
2MP:00030127.9AMH, SOX9, FOXL2, KIT, WT1, AMHR2
3MP:00053797.7AMH, AMHR2, SOX9, DHH, SRY, FOXL2
4MP:00053897.6WT1, AMHR2, KIT, FOXL2, SRY, DHH

Publications for Mixed Gonadal Dysgenesis

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53PubMed
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Articles related to Mixed Gonadal Dysgenesis:

(show top 50)    (show all 97)
idTitleAuthorsYear
1
Mixed gonadal dysgenesis in a patient with de novo tas(Y;19)(p11.3;q13.4) and 45,X mosaicism. (23652939)
2013
2
A rare case report of 46XY mixed gonadal dysgenesis. (24251183)
2013
3
The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD? (22644991)
2012
4
Ascending aortic aneurysm in a patient with mixed gonadal dysgenesis. (21130980)
2011
5
Unexpected finding of an intact distal vagina in an infant with mixed gonadal dysgenesis. (22145487)
2011
6
Molecular analysis of ring y chromosome in a 10-year-old boy with mixed gonadal dysgenesis and growth hormone deficiency. (24052714)
2011
7
Mixed gonadal dysgenesis with normal karyotype: a rare case report. (20551542)
2010
8
Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter? (20583182)
2010
9
Mix gonadal dysgenesis associated with ring Y chromosome mosaics in a phenotypic male. (19752596)
2009
10
Mixed gonadal dysgenesis in a 45,X neonate with chromosome Y material in the dysgenetic gonad. (20101895)
2009
11
Gender dysphoria and gender change in an adolescent with 45,X/46,XY mixed gonadal dysgenesis. (19085701)
2009
12
Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis. (18418530)
2008
13
Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome. (18163932)
2007
14
Laparoscopic excision of Mullerian structures in a neonate with mixed gonadal dysgenesis: a case report. (18158817)
2007
15
Molecular evaluation of the SRY gene for gonads of patients with mixed gonadal dysgenesis. (16045561)
2005
16
Ectopically located gonads in a patient with mixed gonadal dysgenesis: detection by diffusion-weighted MRI. (16132436)
2005
17
Bilateral gonadoblastomas in a dog with mixed gonadal dysgenesis. (15003485)
2004
18
Fragile X and mosaic 45,X/46,XY mixed gonadal dysgenesis in a girl with ambiguous genitalia. (14699624)
2004
19
Seminoma and a gonadoblastoma in an infant with mixed gonadal dysgenesis. (12915842)
2003
20
Pediatric surgical images: mixed gonadal dysgenesis. (12778409)
2003
21
Bilateral seminomas in a 45X/46XY mosaic with Turner's phenotype: an unusual case of mixed gonadal dysgenesis. (12755523)
2003
22
Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis. (11694229)
2001
23
Mixed gonadal dysgenesis: a syndrome of broad clinical, cytogenetic and histopathologic spectrum. (10546094)
1999
24
Polyneuropathy with minifascicle formation in a patient with 46XY mixed gonadal dysgenesis. (10483790)
1999
25
Characterization of an isodicentric Y-chromosome for the long arm in a newborn with mixed gonadal dysgenesis. (9150844)
1997
26
Association of mixed gonadal dysgenesis and non-classic 21-hydroxylase deficiency]. (9033792)
1996
27
Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism. (7869527)
1995
28
Mixed gonadal dysgenesis associated with unilateral cavernosal fibrosis and presenting as a cystic lower abdominal mass. (8262113)
1993
29
A 46,XY female with mixed gonadal dysgenesis and a 48,XY, +7, +i(12p) chromosome pattern in a primary gonadal tumor. (1756501)
1991
30
A t(Y;15) translocation with a deletion of the proximal Yq in a boy with mixed gonadal dysgenesis. (2016085)
1991
31
Mixed gonadal dysgenesis: case reports and a review of 65 Japanese cases. (2009025)
1991
32
A case of mixed gonadal dysgenesis: examination of chromosomes in various parts of the body]. (2347420)
1990
33
Mixed gonadal dysgenesis. A review of 15 patients reporting single cases of malignant intratubular germ cell neoplasia of the testis, endometrial adenocarcinoma, and a complex vascular anomaly. (2163601)
1990
34
Bilateral synchronous tumors in testes in unrecognized mixed gonadal dysgenesis: a case report and review of literature. (2405191)
1990
35
Clear cell adenocarcinoma of the cervix and vagina in a woman with mixed gonadal dysgenesis. A case report. (2621740)
1989
36
A case of mixed gonadal dysgenesis (MGD)--with a review of MGD patients reported in Japan. (2699336)
1989
37
Dysgenesis of testicular and streak gonads in the syndrome of mixed gonadal dysgenesis: perspective derived from a clinicopathologic analysis of twenty-one cases. (7106733)
1982
38
H-Y antigen expression in a case of mixed gonadal dysgenesis. (6169618)
1981
39
The Sertoli cell in mixed gonadal dysgenesis. (570684)
1979
40
Clinical mixed gonadal dysgenesis without Y chromosome. (566515)
1978
41
Mixed gonadal dysgenesis without virilization. (904800)
1977
42
Mixed gonadal dysgenesis. (1094776)
1975
43
Dicentric Y chromosome in mixed gonadal dysgenesis. (49429)
1975
44
The early stage of a neoplastic growth in the testis of a patient with mixed gonadal dysgenesis--ultrastructural and histological observation. (4472693)
1974
45
Virilization superimposed on Turner's syndrome: cytogenetic studies of a gonadal tumor in a patient with XO-XY mixed gonadal dysgenesis. (4683730)
1973
46
Mixed gonadal dysgenesis with Turner phenotype and XO-XYq- mosaicism. (5532253)
1970
47
A possible correlation between chromosomal pattern and gonadal morphology in cases of mixed gonadal dysgenesis, XO-XX and XO-XY mosaicism, true hermaphrodites and XX males. (5649946)
1968
48
Presumptive Y/D translocation in mixed gonadal dysgenesis. (6034520)
1967
49
Mixed gonadal dysgenesis. Two additional pediatric cases. (5954024)
1966
50
MIXED GONADAL DYSGENESIS WITH XX-XY MOSAICISM. THE EVIDENCE FOR THE OCCURRENCE OF FERTILISATION BY TWO SPERMATOZOA IN MAN. (14289441)
1965

Variations for Mixed Gonadal Dysgenesis

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Expression for genes affiliated with Mixed Gonadal Dysgenesis

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mixed Gonadal Dysgenesis

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Pathways for genes affiliated with Mixed Gonadal Dysgenesis

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51PathCards, 39NCBI BioSystems Database
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Pathways related to Mixed Gonadal Dysgenesis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9AMH, AMHR2

Compounds for genes affiliated with Mixed Gonadal Dysgenesis

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46Novoseek, 12DrugBank, 25HMDB, 30IUPHAR, 52PharmGKB, 62Tocris Bioscience
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Compounds related to Mixed Gonadal Dysgenesis according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
117-hydroxypregnenolone469.9CGB5, CYP21A2
2aminoglutethimide46 1210.9CGB5, CYP21A2
3leuprolide acetate469.8CGB5, CYP21A2
4deoxyribonucleic acid469.8WT1, CYP21A2, SRY
5clomiphene citrate469.8CYP21A2, CGB5
6dmrt469.8WT1, SRY, SOX9
717-hydroxyprogesterone46 2510.8CGB5, CYP21A2
8dihydrotestosterone46 30 25 1212.6CYP21A2, SRY, CGB5
9agarose469.6KIT, SRY, CYP21A2
1011beta-hydroxysteroid469.6CGB5, CYP21A2
11dehydroepiandrosterone sulfate469.6CYP21A2, CGB5
123beta-hydroxysteroid469.5CYP21A2, CGB5
13estradiol46 25 1211.4CYP21A2, AMH, SRY, CGB5
1417beta-hydroxysteroid469.3CGB5, CYP21A2
15vincristine46 52 1211.3WT1, KIT, CGB5
16oligonucleotide469.0SRY, WT1, KIT, CYP21A2
17cycloheximide468.9KIT, CGB5, SOX9, CYP21A2
18zinc46 259.9CGB5, WT1, SRY, SOX9, AMH
19vegf468.7WT1, KIT, SOX9, CGB5
20progesterone46 30 62 25 1212.6KIT, CYP21A2, AMH, CGB5, WT1
21ribonucleic acid468.6SOX9, CYP21A2, CGB5, KIT, WT1
22estrogen468.6WT1, AMH, KIT, CGB5, CYP21A2
23steroid468.4CYP21A2, KIT, SRY, CGB5, WT1, SOX9
24serine468.3CGB5, KIT, SRY, SOX9, CYP21A2, WT1
25testosterone46 62 25 1210.0KIT, DAZ4, CYP21A2, AMHR2, AMH, SOX9

GO Terms for genes affiliated with Mixed Gonadal Dysgenesis

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17Gene Ontology
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Biological processes related to Mixed Gonadal Dysgenesis according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1male sex determinationGO:03023810.2SRY, DHH
2Mullerian duct regressionGO:00188010.1AMH, AMHR2
3sex determinationGO:0075309.9WT1, AMH
4sex differentiationGO:0075489.9SRY, AMH, AMHR2
5apoptotic DNA fragmentationGO:0063099.8WT1, FOXL2
6positive regulation of male gonad developmentGO:20000209.7WT1, SRY, SOX9
7spermatid developmentGO:0072869.7KIT, DHH
8ovarian follicle developmentGO:0015419.7KIT, FOXL2
9somatic stem cell maintenanceGO:0350199.6SOX9, KIT
10branching involved in ureteric bud morphogenesisGO:0016589.5WT1, SOX9
11male gonad developmentGO:0085849.4SOX9, KIT, WT1
12positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.3KIT, SOX9
13positive regulation of transcription, DNA-templatedGO:0458939.3WT1, FOXL2, SRY, SOX9
14cell differentiationGO:0301549.0DAZ4, AMH, SRY, FOXL2

Molecular functions related to Mixed Gonadal Dysgenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.6FOXL2, SRY, SOX9

Products for genes affiliated with Mixed Gonadal Dysgenesis

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Sources for Mixed Gonadal Dysgenesis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet