MCID: MXD016
MIFTS: 35

Mixed Gonadal Dysgenesis

Categories: Rare diseases, Fetal diseases, Endocrine diseases, Reproductive diseases

Aliases & Classifications for Mixed Gonadal Dysgenesis

MalaCards integrated aliases for Mixed Gonadal Dysgenesis:

Name: Mixed Gonadal Dysgenesis 12 14
Gonadal Dysgenesis Mixed 72 49 51
Gonadal Dysgenesis, Mixed 41 69

Classifications:



External Ids:

Disease Ontology 12 DOID:14449
MeSH 41 D006060
SNOMED-CT 64 205682006 83579008
UMLS 69 C0018055

Summaries for Mixed Gonadal Dysgenesis

MalaCards based summary : Mixed Gonadal Dysgenesis, also known as gonadal dysgenesis mixed, is related to hermaphroditism and gonadoblastoma. An important gene associated with Mixed Gonadal Dysgenesis is SRY (Sex Determining Region Y), and among its related pathways/superpathways are TGF-beta signaling pathway (KEGG) and Deactivation of the beta-catenin transactivating complex. Affiliated tissues include testis, cervix and testes, and related phenotypes are Negative genetic interaction between PTEN-/- and PTEN+/+ and endocrine/exocrine gland

Wikipedia : 72 45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, is a rare disorder of... more...

Related Diseases for Mixed Gonadal Dysgenesis

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 Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 hermaphroditism 30.3 SOX9 SRY
2 gonadoblastoma 29.8 FOXL2 SOX9 SRY
3 gonadal dysgenesis 29.5 AMH DHH FOXL2 SOX9 SRY
4 hypospadias 29.2 SOX9 SRY
5 sex differentiation disease 29.1 AMH AMHR2 SRY
6 45,x/46,xy mixed gonadal dysgenesis 12.4
7 turner syndrome 10.1
8 pseudohermaphroditism 10.1
9 adenocarcinoma 10.0
10 seminoma 10.0
11 46,xx sex reversal 1 10.0 SOX9 SRY
12 testicular disease 10.0 SOX9 SRY
13 campomelic dysplasia 9.9 SOX9 SRY
14 fibrosis of extraocular muscles, congenital, 1 9.9
15 denys-drash syndrome 9.9
16 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 9.9
17 nephrotic syndrome 9.9
18 polyneuropathy 9.9
19 amenorrhea 9.9
20 endometrial adenocarcinoma 9.9
21 aortic aneurysm 9.9
22 clear cell adenocarcinoma 9.9
23 aortic coarctation 9.9
24 growth hormone deficiency 9.9
25 precocious puberty 9.9
26 aneurysm 9.9
27 freemartinism 9.8 AMH SRY
28 persistent mullerian duct syndrome, types i and ii 9.8 AMH AMHR2
29 gonadal disease 9.8 AMH SRY
30 46,xy partial gonadal dysgenesis 9.7 DHH SOX9 SRY
31 46 xy gonadal dysgenesis 9.7 DHH SOX9 SRY
32 female reproductive system disease 9.6 AMH FOXL2
33 premature ovarian failure 1 9.6 AMH FOXL2
34 ovarian disease 9.5 AMH FOXL2
35 reproductive system disease 9.5 AMH FOXL2 SRY
36 cryptorchidism, unilateral or bilateral 9.5 AMH AMHR2 SRY
37 frasier syndrome 9.4 AMH SOX9 SRY
38 persistent mullerian duct syndrome 9.1 AMH AMHR2 SOX9 SRY

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



Diseases related to Mixed Gonadal Dysgenesis

Symptoms & Phenotypes for Mixed Gonadal Dysgenesis

GenomeRNAi Phenotypes related to Mixed Gonadal Dysgenesis according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between PTEN-/- and PTEN+/+ GR00255-A-3 8.92 AMH DHH FOXL2 SOX9

MGI Mouse Phenotypes related to Mixed Gonadal Dysgenesis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.55 AMH AMHR2 DHH FOXL2 SOX9
2 no phenotypic analysis MP:0003012 9.26 FOXL2 SOX9 AMH AMHR2
3 reproductive system MP:0005389 9.02 AMH AMHR2 DHH FOXL2 SOX9

Drugs & Therapeutics for Mixed Gonadal Dysgenesis

Search Clinical Trials , NIH Clinical Center for Mixed Gonadal Dysgenesis

Cochrane evidence based reviews: gonadal dysgenesis, mixed

Genetic Tests for Mixed Gonadal Dysgenesis

Anatomical Context for Mixed Gonadal Dysgenesis

MalaCards organs/tissues related to Mixed Gonadal Dysgenesis:

38
Testis, Cervix, Testes

Publications for Mixed Gonadal Dysgenesis

Articles related to Mixed Gonadal Dysgenesis:

(show top 50) (show all 108)
# Title Authors Year
1
Mixed Gonadal Dysgenesis with an unusual "inverted" Y chromosome. ( 27941186 )
2016
2
A Case of Chromosomal Disorders of Sex Development with Transverse Testicular Ectopia Mimicking Mixed Gonadal Dysgenesis. ( 27765586 )
2016
3
Retraction: Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene. ( 27777913 )
2016
4
Mixed gonadal dysgenesis in YaoundAc: A preliminary experience about three cases. ( 27502884 )
2016
5
Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene. ( 26817010 )
2015
6
Identification of X Monosomy Cells From a Gonad of Mixed Gonadal Dysgenesis With a 46,XY Karyotype: Case Report. ( 25860218 )
2015
7
A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar. ( 25569267 )
2015
8
45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction. ( 24554973 )
2014
9
Long-term growth hormone treatment in a boy with 45,X/46,X,idic(Yp) mixed gonadal dysgenesis: comparison with growth pattern of an untreated patient. ( 25402381 )
2014
10
Mixed gonadal dysgenesis in a patient with de novo tas(Y;19)(p11.3;q13.4) and 45,X mosaicism. ( 23652939 )
2013
11
A rare case report of 46XY mixed gonadal dysgenesis. ( 24251183 )
2013
12
Ovotesticular disorder of sexual development due to 47,XYY/46,XY/45,X mixed gonadal dysgenesis in a phenotypic male presenting as cyclical haematuria: clinical presentation and assessment of long-term outcomes. ( 23163819 )
2012
13
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
14
Unexpected finding of an intact distal vagina in an infant with mixed gonadal dysgenesis. ( 22145487 )
2011
15
Molecular analysis of ring y chromosome in a 10-year-old boy with mixed gonadal dysgenesis and growth hormone deficiency. ( 24052714 )
2011
16
Ascending aortic aneurysm in a patient with mixed gonadal dysgenesis. ( 21130980 )
2011
17
Atypical presentation and management dilemma of mixed gonadal dysgenesis. ( 20637459 )
2011
18
Mixed gonadal dysgenesis: whole life follow-up of a rare case. ( 22073950 )
2011
19
Mixed gonadal dysgenesis with 45,X/46,X,idic(Y) karyotype: a case report. ( 21934259 )
2011
20
Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter? ( 20583182 )
2010
21
Mixed gonadal dysgenesis with normal karyotype: a rare case report. ( 20551542 )
2010
22
Mixed gonadal dysgenesis in a 45,X neonate with chromosome Y material in the dysgenetic gonad. ( 20101895 )
2009
23
Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype. ( 19650415 )
2009
24
Long term follow-up of a child with ambiguous genitalia, mixed gonadal dysgenesis, and unusual mosaicism. ( 19960897 )
2009
25
[Diagnosis and management of 46,XY mixed gonadal dysgenesis and disorder of sexual differentiation]. ( 19535881 )
2009
26
Gender dysphoria and gender change in an adolescent with 45,X/46,XY mixed gonadal dysgenesis. ( 19085701 )
2009
27
Mix gonadal dysgenesis associated with ring Y chromosome mosaics in a phenotypic male. ( 19752596 )
2009
28
Laparoscopic diagnosis and treatment of a phenotypic girl with mosaic 45,XO/46,X,idic(Y) mixed gonadal dysgenesis. ( 19159702 )
2009
29
Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis. ( 18418530 )
2008
30
Short stature in a phenotypic male caused by mixed gonadal dysgenesis. ( 18648333 )
2008
31
Scrotal hysterectomy in a male patient with mixed gonadal dysgenesis 46,XY(75%)/45,X(25%). ( 18158064 )
2007
32
Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome. ( 18163932 )
2007
33
Laparoscopic excision of Mullerian structures in a neonate with mixed gonadal dysgenesis: a case report. ( 18158817 )
2007
34
Isodicentric Y (p11.32) chromosome in an infant with mixed gonadal dysgenesis. ( 16530711 )
2006
35
A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis. ( 16390857 )
2005
36
Ectopically located gonads in a patient with mixed gonadal dysgenesis: detection by diffusion-weighted MRI. ( 16132436 )
2005
37
Molecular evaluation of the SRY gene for gonads of patients with mixed gonadal dysgenesis. ( 16045561 )
2005
38
Unusual mixed gonadal dysgenesis associated with MA1llerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype. ( 16007601 )
2005
39
Bilateral gonadoblastomas in a dog with mixed gonadal dysgenesis. ( 15003485 )
2004
40
Fragile X and mosaic 45,X/46,XY mixed gonadal dysgenesis in a girl with ambiguous genitalia. ( 14699624 )
2004
41
Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism. ( 15223166 )
2004
42
Laparoscopic approach to mA1llerian derivatives in a male with mixed gonadal dysgenesis. ( 12709622 )
2003
43
Seminoma and a gonadoblastoma in an infant with mixed gonadal dysgenesis. ( 12915842 )
2003
44
Pediatric surgical images: mixed gonadal dysgenesis. ( 12778409 )
2003
45
Bilateral seminomas in a 45X/46XY mosaic with Turner's phenotype: an unusual case of mixed gonadal dysgenesis. ( 12755523 )
2003
46
Mixed gonadal dysgenesis and precocious puberty. ( 12169778 )
2002
47
True hermaphroditism and mixed gonadal dysgenesis in young children: a clinicopathologic study of 10 cases. ( 12379746 )
2002
48
Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis. ( 11694229 )
2001
49
Twenty-four hour, non-invasive, neonatal chromosome analysis--application in a case of mixed gonadal dysgenesis. ( 11126707 )
2000
50
Penoscrotal hypospadias and coarctation of the aorta with mixed gonadal dysgenesis. ( 10786990 )
2000

Variations for Mixed Gonadal Dysgenesis

Expression for Mixed Gonadal Dysgenesis

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

Pathways for Mixed Gonadal Dysgenesis

Pathways related to Mixed Gonadal Dysgenesis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.08 AMH AMHR2
2 10.59 SOX9 SRY
3 9.66 AMH AMHR2

GO Terms for Mixed Gonadal Dysgenesis

Biological processes related to Mixed Gonadal Dysgenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.67 AMH FOXL2 SOX9 SRY
2 positive regulation of transcription, DNA-templated GO:0045893 9.63 FOXL2 SOX9 SRY
3 male gonad development GO:0008584 9.43 AMHR2 SOX9
4 BMP signaling pathway GO:0030509 9.4 AMH AMHR2
5 female gonad development GO:0008585 9.32 AMHR2 FOXL2
6 positive regulation of male gonad development GO:2000020 9.26 SOX9 SRY
7 Mullerian duct regression GO:0001880 9.16 AMH AMHR2
8 sex differentiation GO:0007548 9.13 AMH AMHR2 SRY
9 male sex determination GO:0030238 8.8 DHH SOX9 SRY

Molecular functions related to Mixed Gonadal Dysgenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.62 SOX9 SRY

Sources for Mixed Gonadal Dysgenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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