MCID: MXD016
MIFTS: 42

Mixed Gonadal Dysgenesis malady

Summaries for Mixed Gonadal Dysgenesis

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63Wikipedia, 32MalaCards
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Wikipedia:63 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 gonadoblastoma. 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 deoxyribonucleic acid have been mentioned in the context of this disorder. Affiliated tissues include testis, testes and cervix, and related mouse phenotypes are no phenotypic analysis and endocrine/exocrine gland.

Aliases & Classifications for Mixed Gonadal Dysgenesis

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8Disease Ontology, 10DISEASES, 42NIH Rare Diseases, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH
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Aliases & Descriptions:

mixed gonadal dysgenesis 8 10
gonadal dysgenesis mixed 42 44
gonadal dysgenesis, mixed 60


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Disease Ontology8 DOID:14449
SNOMED-CT56 83579008, 205682006
MeSH34 D006060

Related Diseases for Mixed Gonadal Dysgenesis

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17GeneCards, 18GeneDecks
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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 65)
idRelated DiseaseScoreTop Affiliating Genes
1gonadal dysgenesis31.7SRY, SOX9, WT1, DHH
2gonadoblastoma30.7SRY, KIT, WT1
3hermaphroditism30.6AMH, SRY
4pseudohermaphroditism30.6HSD17B1P1, AMHR2, AMH, WT1, SRY
5denys-drash syndrome30.5WT1
6seminoma30.5KIT, CGB5
7adenocarcinoma30.5WT1, CGB5, CYP21A2
8amenorrhea30.3AMH, SRY
9turner syndrome30.3CYP21A2, SRY
10hypospadias30.3WT1, CYP21A2, SRY
11sexual disorder10.4
1245,x/46,xy mixed gonadal dysgenesis10.4
1321-hydroxylase deficiency10.2
14cystic fibrosis10.2
15clear cell adenocarcinoma10.2
16endometrial mixed adenocarcinoma10.2
17aortic aneurysm10.2
18endometrial adenocarcinoma10.2
19nephrotic syndrome10.2
20polyneuropathy10.2
2146xy sex reversal 310.2
22varicocele10.0AZF1
23hypogonadism10.0CGB5
24corpus luteum cyst10.0CGB5
2546,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.0SRY, DHH
26gynecomastia10.0SRY, CGB5
27adenomatoid tumor10.0WT1
28germ cell tumors10.0KIT
29moebius syndrome10.0FOXL2
30mental retardation10.0WT1
31down syndrome10.0CGB5, SRY
32luteoma10.0CYP21A2, SRY
33frasier syndrome10.0WT1, SRY
34leydig cell tumor10.0CYP21A2, CGB5
35ovarian cancer10.0CGB5, AMHR2
36microphthalmia10.0KIT
37testicular cancer10.0CGB5, AZF1
38sertoli-leydig cell tumor10.0WT1
39klinefelter's syndrome10.0DAZ4, CYP21A2, AZF1
40androgen insensitivity syndrome10.0SRY, HSD17B1P1
41teratoma10.0KIT, CGB5
42mesoblastic nephroma10.0WT1, KIT
43hypereosinophilic syndrome10.0KIT, WT1
44clear cell sarcoma10.0KIT, WT1
45congenital adrenal hyperplasia10.0SRY, CYP21A2
46swyer syndrome10.0SRY, SOX9
47refractory anemia10.0WT1, KIT
48male infertility10.0AZF1, CYP21A2, DAZ4, SRY
49acute myeloid leukemia, adult10.0WT1, KIT
50premature ovarian failure10.0FOXL2, AMH

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



Diseases related to mixed gonadal dysgenesis

Clinical Features for Mixed Gonadal Dysgenesis

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Drugs & Therapeutics for Mixed Gonadal Dysgenesis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Mixed Gonadal Dysgenesis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.5KIT, WT1, SOX9, AMH, AMHR2
2MP:00053797.5SRY, AMHR2, AMH, SOX9, WT1, FOXL2
3MP:00053897.3AMHR2, AMH, SOX9, WT1, FOXL2, DHH

Publications for Mixed Gonadal Dysgenesis

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50PubMed
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Articles related to Mixed Gonadal Dysgenesis:

(show top 50)    (show all 104)
idTitleAuthorsYear
1
A rare case report of 46XY mixed gonadal dysgenesis. (24251183)
2013
2
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
3
A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis. (22441105)
2012
4
Unexpected finding of an intact distal vagina in an infant with mixed gonadal dysgenesis. (22145487)
2011
5
Mix gonadal dysgenesis associated with ring Y chromosome mosaics in a phenotypic male. (19752596)
2009
6
Mixed gonadal dysgenesis in a 45,X neonate with chromosome Y material in the dysgenetic gonad. (20101895)
2009
7
Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype. (19650415)
2009
8
Laparoscopic diagnosis and treatment of a phenotypic girl with mosaic 45,XO/46,X,idic(Y) mixed gonadal dysgenesis. (19159702)
2009
9
Long term follow-up of a child with ambiguous genitalia, mixed gonadal dysgenesis, and unusual mosaicism. (19960897)
2009
10
Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis. (18418530)
2008
11
Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome. (18163932)
2007
12
Laparoscopic excision of Mullerian structures in a neonate with mixed gonadal dysgenesis: a case report. (18158817)
2007
13
Isodicentric Y (p11.32) chromosome in an infant with mixed gonadal dysgenesis. (16530711)
2006
14
Ectopically located gonads in a patient with mixed gonadal dysgenesis: detection by diffusion-weighted MRI. (16132436)
2005
15
Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism. (15223166)
2004
16
Laparoscopic approach to mA1llerian derivatives in a male with mixed gonadal dysgenesis. (12709622)
2003
17
Mixed gonadal dysgenesis and precocious puberty. (12169778)
2002
18
True hermaphroditism and mixed gonadal dysgenesis in young children: a clinicopathologic study of 10 cases. (12379746)
2002
19
Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis. (11694229)
2001
20
Penoscrotal hypospadias and coarctation of the aorta with mixed gonadal dysgenesis. (10786990)
2000
21
Twenty-four hour, non-invasive, neonatal chromosome analysis--application in a case of mixed gonadal dysgenesis. (11126707)
2000
22
Mixed gonadal dysgenesis: a syndrome of broad clinical, cytogenetic and histopathologic spectrum. (10546094)
1999
23
Severe mixed connective tissue disease in a woman with pure gonadal dysgenesis: estrogens do not influence disease expression. (10229418)
1999
24
Gender identity reversal in an adolescent with mixed gonadal dysgenesis. (10703543)
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: histological and ultrastructural findings in two cases. (8811390)
1996
28
Distribution of marker-Y chromosome containing cells in different tissues of a Turner mosaic patient with mixed gonadal dysgenesis. (8832135)
1996
29
Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism. (7869527)
1995
30
Mixed gonadal dysgenesis with structural anomalies of the Y chromosome. (17586911)
1994
31
Mixed gonadal dysgenesis associated with unilateral cavernosal fibrosis and presenting as a cystic lower abdominal mass. (8262113)
1993
32
A case of mixed gonadal dysgenesis with 45 X/46 XY karyotype and aortic coarctation. (8348224)
1993
33
A 46,XY female with mixed gonadal dysgenesis and a 48,XY, +7, +i(12p) chromosome pattern in a primary gonadal tumor. (1756501)
1991
34
Mixed gonadal dysgenesis: case reports and a review of 65 Japanese cases. (2009025)
1991
35
Associated leukemia and mixed germ cell tumor in a patient with gonadal dysgenesis. (1680081)
1991
36
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
37
A case of mixed gonadal dysgenesis (MGD)--with a review of MGD patients reported in Japan. (2699336)
1989
38
Mixed gonadal dysgenesis and sex chromosome mosaicism with multiple cell lines including structural aberrations of the Y chromosome. (6682358)
1983
39
The Sertoli cell in mixed gonadal dysgenesis. (570684)
1979
40
Mixed gonadal dysgenesis, pathogensis, and management. (480090)
1979
41
Clinical mixed gonadal dysgenesis without Y chromosome. (566515)
1978
42
X/XYq - mosaicism and mixed gonadal dysgenesis. (926138)
1977
43
45,X/46,X,dic(Yq) mosaicism and mixed gonadal dysgenesis. Case report and review of the literature. (305755)
1977
44
Mixed gonadal dysgenesis. (1094776)
1975
45
Mixed gonadal dysgenesis and other intersex states. (1156686)
1975
46
Gonadal histology in children with male pseudohermaphroditism and mixed gonadal dysgenesis. (4393569)
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

Genetic Variations for Mixed Gonadal Dysgenesis

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Expression for genes affiliated with Mixed Gonadal Dysgenesis

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1BioGPS, 15Gene 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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37NCBI BioSystems Database
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Pathways related to Mixed Gonadal Dysgenesis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8AMH, AMHR2

Compounds for genes affiliated with Mixed Gonadal Dysgenesis

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

(show all 19)
idCompoundScoreTop Affiliating Genes
117-hydroxypregnenolone449.9CYP21A2, CGB5
2deoxyribonucleic acid449.9SRY, CYP21A2, WT1
3aminoglutethimide44 1110.9CYP21A2, CGB5
4leuprolide acetate449.8CGB5, CYP21A2
5dmrt449.8SOX9, WT1, SRY
6clomiphene citrate449.7CGB5, CYP21A2
7dihydrotestosterone44 28 11 2412.6SRY, CYP21A2, CGB5
8agarose449.5SRY, KIT, CYP21A2
9vincristine44 49 1111.3KIT, CGB5, WT1
1017-hydroxyprogesterone44 2410.3CYP21A2, CGB5
11estradiol44 11 2411.2SRY, CYP21A2, CGB5, AMH
12zinc44 249.8AMH, SOX9, WT1, CGB5, SRY
13progesterone44 59 28 11 2412.7AMH, WT1, CGB5, CYP21A2, KIT
14cycloheximide448.7KIT, CYP21A2, CGB5, SOX9
15ribonucleic acid448.6KIT, CYP21A2, CGB5, WT1, SOX9
16estrogen448.4KIT, CYP21A2, CGB5, WT1, AMH
17steroid448.4SOX9, WT1, CGB5, CYP21A2, KIT, SRY
18serine448.0SOX9, WT1, CGB5, CYP21A2, KIT, SRY
19testosterone44 59 11 2410.1SRY, AMHR2, AMH, SOX9, WT1, CGB5

GO Terms for genes affiliated with Mixed Gonadal Dysgenesis

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1male sex determinationGO:03023810.1DHH, SRY
2Mullerian duct regressionGO:00188010.0AMH, AMHR2
3sex determinationGO:0075309.9WT1, AMH
4sex differentiationGO:0075489.8AMH, AMHR2
5apoptotic DNA fragmentationGO:0063099.7FOXL2, WT1
6positive regulation of male gonad developmentGO:20000209.6SRY, WT1, SOX9
7male gonad developmentGO:0085849.1SOX9, WT1, KIT, SRY
8cell differentiationGO:0301548.7AMH, FOXL2, DAZ4, SRY
9positive regulation of transcription, DNA-dependentGO:0458938.7SRY, FOXL2, WT1, SOX9

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:0037059.4SRY, FOXL2, 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet