MCID: MXD016
MIFTS: 48

Mixed Gonadal Dysgenesis malady

Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories
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Summaries for Mixed Gonadal Dysgenesis

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Wikipedia:65 Mixed gonadal dysgenesis is a condition of unusual and asymmetrical gonadal development leading to an... more...

MalaCards based summary: 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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Mixed Gonadal Dysgenesis, Aliases & Descriptions:

Name: Mixed Gonadal Dysgenesis 8 10
Gonadal Dysgenesis Mixed 42 44
 
Gonadal Dysgenesis, Mixed 62


Classifications:



External Ids:

Disease Ontology8 DOID:14449
SNOMED-CT57 205682006, 83579008
MeSH34 D006060

Related Diseases for Mixed Gonadal Dysgenesis

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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 dysgenesis31.7SOX9, DHH, SRY, WT1
2hermaphroditism31.3AMH, SRY
3amenorrhea30.9AMH, SRY
4turner syndrome30.8SRY, CYP21A2
5gonadoblastoma30.8KIT, SRY, WT1
6precocious puberty30.5CYP21A2, CGB5, AMH
7pseudohermaphroditism30.4WT1, SRY, AMH, AMHR2, HSD17B1P1
8germinoma30.4KIT, CYP21A2, CGB5
9hypospadias30.4WT1, SRY, CYP21A2
10dysgerminoma30.0CGB5, KIT, SRY, WT1
1145,x/46,xy mixed gonadal dysgenesis10.6
1246xx sex reversal 110.5SRY
13varicocele10.5AZF1
14androgen insensitivity syndrome10.4HSD17B1P1, SRY
1546,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.4DHH, SRY
16denys-drash syndrome10.4
17adenocarcinoma10.4
18seminoma10.4
19luteoma10.4CYP21A2, SRY
20persistent mullerian duct syndrome10.3AMHR2, AMH
21swyer syndrome10.3SOX9, SRY
22campomelic dysplasia10.3SOX9, SRY
23germ cell tumors10.3KIT
24ovarian disease10.3AMH, FOXL2
25congenital adrenal hyperplasia10.3CYP21A2, SRY
26anovulation10.3CYP21A2, AMH
27premature ovarian failure10.3AMH, FOXL2
28gynecomastia10.3CGB5, SRY
2921-hydroxylase deficiency10.2
30clear cell adenocarcinoma10.2
31aortic aneurysm10.2
32endometrial adenocarcinoma10.2
33nephrotic syndrome10.2
34polyneuropathy10.2
35aortic coarctation10.2
36growth hormone deficiency10.2
37aneurysm10.2
38short stature10.2
3946xy sex reversal 2, dosage-sensitive10.2
40adenomatoid tumor10.2WT1
41klinefelter's syndrome10.2DAZ4, CYP21A2, AZF1
42frasier syndrome10.2WT1, SRY
43polycystic ovary syndrome10.1CYP21A2, CGB5
44male infertility10.1CYP21A2, SRY, AZF1, DAZ4
45leydig cell tumor10.1CGB5, CYP21A2
46hyperandrogenism10.1CGB5, AMH, CYP21A2
47mesoblastic nephroma10.1KIT, WT1
48hypereosinophilic syndrome10.0WT1, KIT
49teratoma10.0CGB5, KIT
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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Drug clinical trials:

Search ClinicalTrials for Mixed Gonadal Dysgenesis

Search NIH Clinical Center for Mixed Gonadal Dysgenesis

Genetic Tests for Mixed Gonadal Dysgenesis

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Anatomical Context for Mixed Gonadal Dysgenesis

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MalaCards organs/tissues related to Mixed Gonadal Dysgenesis:

32
Testis, Testes, Cervix

Animal Models for Mixed Gonadal Dysgenesis or affiliated genes

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MGI Mouse Phenotypes related to Mixed Gonadal Dysgenesis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0AMH, SOX9, DHH, FOXL2, KIT, WT1
2MP:00030127.9AMHR2, AMH, SOX9, FOXL2, KIT, WT1
3MP:00053797.7WT1, AMHR2, AMH, SOX9, DHH, SRY
4MP:00053897.6AMHR2, AMH, SOX9, DHH, SRY, FOXL2

Publications for Mixed Gonadal Dysgenesis

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Articles related to Mixed Gonadal Dysgenesis:

(show top 50)    (show all 101)
idTitleAuthorsYear
1
45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction. (24554973)
2014
2
Mixed gonadal dysgenesis in a patient with de novo tas(Y;19)(p11.3;q13.4) and 45,X mosaicism. (23652939)
2013
3
A rare case report of 46XY mixed gonadal dysgenesis. (24251183)
2013
4
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
5
Ascending aortic aneurysm in a patient with mixed gonadal dysgenesis. (21130980)
2011
6
Unexpected finding of an intact distal vagina in an infant with mixed gonadal dysgenesis. (22145487)
2011
7
Molecular analysis of ring y chromosome in a 10-year-old boy with mixed gonadal dysgenesis and growth hormone deficiency. (24052714)
2011
8
Mixed gonadal dysgenesis with normal karyotype: a rare case report. (20551542)
2010
9
Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter? (20583182)
2010
10
Mix gonadal dysgenesis associated with ring Y chromosome mosaics in a phenotypic male. (19752596)
2009
11
Mixed gonadal dysgenesis in a 45,X neonate with chromosome Y material in the dysgenetic gonad. (20101895)
2009
12
Gender dysphoria and gender change in an adolescent with 45,X/46,XY mixed gonadal dysgenesis. (19085701)
2009
13
Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis. (18418530)
2008
14
Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome. (18163932)
2007
15
Laparoscopic excision of Mullerian structures in a neonate with mixed gonadal dysgenesis: a case report. (18158817)
2007
16
Molecular evaluation of the SRY gene for gonads of patients with mixed gonadal dysgenesis. (16045561)
2005
17
Ectopically located gonads in a patient with mixed gonadal dysgenesis: detection by diffusion-weighted MRI. (16132436)
2005
18
Bilateral gonadoblastomas in a dog with mixed gonadal dysgenesis. (15003485)
2004
19
Fragile X and mosaic 45,X/46,XY mixed gonadal dysgenesis in a girl with ambiguous genitalia. (14699624)
2004
20
Seminoma and a gonadoblastoma in an infant with mixed gonadal dysgenesis. (12915842)
2003
21
Pediatric surgical images: mixed gonadal dysgenesis. (12778409)
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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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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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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Compounds related to Mixed Gonadal Dysgenesis according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
117-hydroxypregnenolone449.9CGB5, CYP21A2
2aminoglutethimide44 1110.9CGB5, CYP21A2
3leuprolide acetate449.8CGB5, CYP21A2
4deoxyribonucleic acid449.8CYP21A2, SRY, WT1
5clomiphene citrate449.8CGB5, CYP21A2
6dmrt449.8WT1, SRY, SOX9
717-hydroxyprogesterone44 2410.8CGB5, CYP21A2
8dihydrotestosterone44 28 24 1112.6CYP21A2, SRY, CGB5
9agarose449.6KIT, SRY, CYP21A2
1011beta-hydroxysteroid449.6CGB5, CYP21A2
11dehydroepiandrosterone sulfate449.6CGB5, CYP21A2
123beta-hydroxysteroid449.5CYP21A2, CGB5
13estradiol44 24 1111.4CYP21A2, AMH, SRY, CGB5
1417beta-hydroxysteroid449.3CGB5, CYP21A2
15vincristine44 50 1111.3KIT, WT1, CGB5
16oligonucleotide449.0CYP21A2, SRY, KIT, WT1
17cycloheximide448.9CYP21A2, SOX9, KIT, CGB5
18zinc44 249.9AMH, SOX9, SRY, WT1, CGB5
19vegf448.7SOX9, KIT, WT1, CGB5
20progesterone44 28 61 24 1112.6CGB5, WT1, KIT, AMH, CYP21A2
21ribonucleic acid448.6CYP21A2, SOX9, KIT, WT1, CGB5
22estrogen448.6CYP21A2, AMH, KIT, WT1, CGB5
23steroid448.4CGB5, WT1, KIT, SRY, SOX9, CYP21A2
24serine448.3CYP21A2, SOX9, SRY, KIT, WT1, CGB5
25testosterone44 61 24 1110.0CGB5, DAZ4, CYP21A2, AMHR2, AMH, SOX9

GO Terms for genes affiliated with Mixed Gonadal Dysgenesis

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet