MCID: MXD016
MIFTS: 40

Mixed Gonadal Dysgenesis malady

Summaries for Mixed Gonadal Dysgenesis

Sources:
64Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:64 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 gonadoblastoma and denys-drash syndrome. 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, cervix and t cells, and related mouse phenotypes are no phenotypic analysis and endocrine/exocrine gland.

Aliases & Classifications for Mixed Gonadal Dysgenesis

Sources:
8Disease Ontology, 10DISEASES, 43NIH Rare Diseases, 45Novoseek, 61UMLS, 57SNOMED-CT, 35MeSH
See all sources

Aliases & Descriptions:

mixed gonadal dysgenesis 8 10
gonadal dysgenesis mixed 43 45
gonadal dysgenesis, mixed 61


External Ids:

Disease Ontology8 DOID:14449
SNOMED-CT57 83579008, 205682006
MeSH35 D006060

Related Diseases for Mixed Gonadal Dysgenesis

Sources:
17GeneCards, 18GeneDecks
See all sources

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
1gonadoblastoma30.7SRY, KIT, WT1
2denys-drash syndrome30.5WT1
3turner syndrome30.5CYP21A2, SRY
4adenocarcinoma30.5WT1, CGB5, CYP21A2
5amenorrhea30.3AMH, SRY
6hypospadias30.3WT1, CYP21A2, SRY
7precocious puberty30.3CYP21A2, CGB5, AMH
8germinoma30.3KIT, CYP21A2, CGB5
9dysgerminoma30.3WT1, CGB5, KIT, SRY
1045,x/46,xy mixed gonadal dysgenesis10.5
11cystic fibrosis10.2
12clear cell adenocarcinoma10.2
13endometrial mixed adenocarcinoma10.2
14n syndrome10.2
15aortic aneurysm10.2
16aortic coarctation10.2
17growth hormone deficiency10.2
18short stature10.2
1946xy sex reversal 310.2
20ring chromosome y10.2
21varicocele10.0AZF1
22hypogonadism10.0CGB5
23corpus luteum cyst10.0CGB5
2446,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.0SRY, DHH
25gynecomastia10.0SRY, CGB5
26adenomatoid tumor10.0WT1
27germ cell tumors10.0KIT
28moebius syndrome10.0FOXL2
29mental retardation10.0WT1
30down syndrome10.0CGB5, SRY
31luteoma10.0CYP21A2, SRY
32frasier syndrome10.0WT1, SRY
33leydig cell tumor10.0CYP21A2, CGB5
34ovarian cancer10.0CGB5, AMHR2
35microphthalmia10.0KIT
36testicular cancer10.0CGB5, AZF1
37sertoli-leydig cell tumor10.0WT1
38hermaphroditism10.0AMH, SRY
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

Drugs & Therapeutics for Mixed Gonadal Dysgenesis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Mixed Gonadal Dysgenesis

Drug clinical trials:

Search ClinicalTrials for Mixed Gonadal Dysgenesis

Search NIH Clinical Center for Mixed Gonadal Dysgenesis

Search CenterWatch for Mixed Gonadal Dysgenesis

Genetic Tests for Mixed Gonadal Dysgenesis

Anatomical Context for Mixed Gonadal Dysgenesis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Mixed Gonadal Dysgenesis:

33
Testis, Cervix, T cells, Testis germ

Animal Models for Mixed Gonadal Dysgenesis or affiliated genes

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

MGI Mouse Phenotypes related to Mixed Gonadal Dysgenesis:

37
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

Sources:
51PubMed
See all sources

Articles related to Mixed Gonadal Dysgenesis:

(show top 50)    (show all 107)
idTitleAuthorsYear
1
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
2
A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis. (22441105)
2012
3
Molecular analysis of ring y chromosome in a 10-year-old boy with mixed gonadal dysgenesis and growth hormone deficiency. (24052714)
2011
4
Mixed gonadal dysgenesis with normal karyotype: a rare case report. (20551542)
2010
5
Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter? (20583182)
2010
6
Long term follow-up of a child with ambiguous genitalia, mixed gonadal dysgenesis, and unusual mosaicism. (19960897)
2009
7
Diagnosis and management of 46,XY mixed gonadal dysgenesis and disorder of sexual differentiation]. (19535881)
2009
8
Gonadoblastoma-associated mixed germ cell tumour in 46,XY complete gonadal dysgenesis (Swyer syndrome): analysis of Y chromosomal genotype and OCT3/4 and TSPY expression profile. (18312345)
2008
9
Unusual mixed gonadal dysgenesis associated with MA1llerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype. (16007601)
2005
10
Bilateral gonadoblastomas in a dog with mixed gonadal dysgenesis. (15003485)
2004
11
Fragile X and mosaic 45,X/46,XY mixed gonadal dysgenesis in a girl with ambiguous genitalia. (14699624)
2004
12
Seminoma and a gonadoblastoma in an infant with mixed gonadal dysgenesis. (12915842)
2003
13
Pediatric surgical images: mixed gonadal dysgenesis. (12778409)
2003
14
Bilateral seminomas in a 45X/46XY mosaic with Turner's phenotype: an unusual case of mixed gonadal dysgenesis. (12755523)
2003
15
Laparoscopic approach to mA1llerian derivatives in a male with mixed gonadal dysgenesis. (12709622)
2003
16
True hermaphroditism and mixed gonadal dysgenesis in young children: a clinicopathologic study of 10 cases. (12379746)
2002
17
Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis. (11694229)
2001
18
Twenty-four hour, non-invasive, neonatal chromosome analysis--application in a case of mixed gonadal dysgenesis. (11126707)
2000
19
Gender identity reversal in an adolescent with mixed gonadal dysgenesis. (10703543)
1999
20
Management quandary. Primary amenorrhea due to mixed gonadal dysgenesis. (9806133)
1998
21
Characterization of an isodicentric Y-chromosome for the long arm in a newborn with mixed gonadal dysgenesis. (9150844)
1997
22
Association of mixed gonadal dysgenesis and non-classic 21-hydroxylase deficiency]. (9033792)
1996
23
Distribution of marker-Y chromosome containing cells in different tissues of a Turner mosaic patient with mixed gonadal dysgenesis. (8832135)
1996
24
An infant with a mosaic 45,X/46,X,psu dic(Y) (pter-->q11.2::q11.2-->pter) karyotype and mixed gonadal dysgenesis studied for extent of mosaicism in the gonads. (8989464)
1996
25
Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism. (7869527)
1995
26
Hydrocolpos in an 18-year-old man with mixed gonadal dysgenesis. (7673457)
1995
27
Mixed gonadal dysgenesis and cell line differentiation. Case presentation and literature review. (7834898)
1994
28
Mixed gonadal dysgenesis with 45, X/46, XX/46, XY mosaicism. (8002080)
1994
29
Mixed gonadal dysgenesis associated with unilateral cavernosal fibrosis and presenting as a cystic lower abdominal mass. (8262113)
1993
30
A case of mixed gonadal dysgenesis with 45 X/46 XY karyotype and aortic coarctation. (8348224)
1993
31
Associated leukemia and mixed germ cell tumor in a patient with gonadal dysgenesis. (1680081)
1991
32
A case of mixed gonadal dysgenesis: examination of chromosomes in various parts of the body]. (2347420)
1990
33
Partial androgen receptor deficiency and mixed gonadal dysgenesis in Drash syndrome. (3026952)
1987
34
Absence of Y-specific DNA sequences in human 46,XX true hermaphrodites and in 45,X mixed gonadal dysgenesis. (3038732)
1987
35
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
36
H-Y antigen expression in a case of mixed gonadal dysgenesis. (6169618)
1981
37
The Sertoli cell in mixed gonadal dysgenesis. (570684)
1979
38
Mixed gonadal dysgenesis, pathogensis, and management. (480090)
1979
39
Mixed gonadal dysgenesis without virilization. (904800)
1977
40
X/XYq - mosaicism and mixed gonadal dysgenesis. (926138)
1977
41
Mixed gonadal dysgenesis. (1094776)
1975
42
Mixed gonadal dysgenesis and other intersex states. (1156686)
1975
43
The early stage of a neoplastic growth in the testis of a patient with mixed gonadal dysgenesis--ultrastructural and histological observation. (4472693)
1974
44
Mixed gonadal dysgenesis. A case report. (4472202)
1974
45
Mixed gonadal dysgenesis. (4147604)
1973
46
"Mixed" gonadal dysgenesis, a case with male phenotype and 45,X-46,XY mosaicism. (5535982)
1970
47
Mixed gonadal dysgenesis. Two additional pediatric cases. (5954024)
1966
48
HERMAPHRODITISM WITH "ATYPICAL" OR "MIXED" GONADAL DYSGENESIS. RELATIONSHIP TO GONADAL NEOPLASM. (14124695)
1964
49
"MIXED" GONADAL DYSGENESIS WITH GONADOBLASTOMA IN SITU. (14241519)
1964
50
"Mixed" gonadal dysgenesis: a variety of hermaphroditism. (13989874)
1963

Genetic Variations for Mixed Gonadal Dysgenesis

Expression for genes affiliated with Mixed Gonadal Dysgenesis

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

Search GEO for disease gene expression data for Mixed Gonadal Dysgenesis.

Pathways for genes affiliated with Mixed Gonadal Dysgenesis

Sources:
38NCBI BioSystems Database
See all sources

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

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

Compounds related to Mixed Gonadal Dysgenesis according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
117-hydroxypregnenolone459.9CYP21A2, CGB5
2deoxyribonucleic acid459.9SRY, CYP21A2, WT1
3aminoglutethimide45 1110.9CYP21A2, CGB5
4leuprolide acetate459.8CGB5, CYP21A2
5dmrt459.8SOX9, WT1, SRY
6clomiphene citrate459.7CGB5, CYP21A2
7dihydrotestosterone45 29 11 2412.6SRY, CYP21A2, CGB5
8agarose459.5SRY, KIT, CYP21A2
9vincristine45 50 1111.3KIT, CGB5, WT1
1017-hydroxyprogesterone45 2410.3CYP21A2, CGB5
11estradiol45 11 2411.2SRY, CYP21A2, CGB5, AMH
12zinc45 249.8AMH, SOX9, WT1, CGB5, SRY
13progesterone45 60 29 11 2412.7AMH, WT1, CGB5, CYP21A2, KIT
14cycloheximide458.7KIT, CYP21A2, CGB5, SOX9
15ribonucleic acid458.6KIT, CYP21A2, CGB5, WT1, SOX9
16estrogen458.4KIT, CYP21A2, CGB5, WT1, AMH
17steroid458.4SOX9, WT1, CGB5, CYP21A2, KIT, SRY
18serine458.0SOX9, WT1, CGB5, CYP21A2, KIT, SRY
19testosterone45 60 11 2410.1SRY, AMHR2, AMH, SOX9, WT1, CGB5

GO Terms for genes affiliated with Mixed Gonadal Dysgenesis

Sources:
16Gene Ontology
See all sources

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1male sex determinationGO:03023810.1SRY, DHH
2Mullerian duct regressionGO:00188010.0AMH, AMHR2
3sex determinationGO:0075309.9AMH, WT1
4sex differentiationGO:0075489.8AMHR2, AMH
5apoptotic DNA fragmentationGO:0063099.7WT1, FOXL2
6positive regulation of male gonad developmentGO:20000209.6SOX9, WT1, SRY
7male gonad developmentGO:0085849.1SOX9, WT1, KIT, SRY
8cell differentiationGO:0301548.7FOXL2, SRY, DAZ4, AMH
9positive regulation of transcription, DNA-dependentGO:0458938.7SRY, WT1, SOX9, 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:0037059.4SRY, FOXL2, SOX9

Products for genes affiliated with Mixed Gonadal Dysgenesis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mixed 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