MCID: MXD016
MIFTS: 35

Mixed Gonadal Dysgenesis

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

Aliases & Classifications for Mixed Gonadal Dysgenesis

MalaCards integrated aliases for Mixed Gonadal Dysgenesis:

Name: Mixed Gonadal Dysgenesis 12 14
Gonadal Dysgenesis, Mixed 42 69
Gonadal Dysgenesis Mixed 50 52

Classifications:



External Ids:

Disease Ontology 12 DOID:14449
MeSH 42 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 45,x/46,xy mixed gonadal dysgenesis and gonadal dysgenesis. 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. The drugs Aldesleukin and Adjuvants, Immunologic have been mentioned in the context of this disorder. Affiliated tissues include testis, cervix and testes, and related phenotypes are Negative genetic interaction between PTEN-/- and PTEN+/+ and endocrine/exocrine gland

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 40)
id Related Disease Score Top Affiliating Genes
1 45,x/46,xy mixed gonadal dysgenesis 12.3
2 gonadal dysgenesis 10.8
3 hermaphroditism 10.2
4 gonadoblastoma 10.2
5 spermatogenic failure, y-linked, 1 10.0 SOX9 SRY
6 turner syndrome 10.0
7 pseudohermaphroditism 10.0
8 vaginal discharge 10.0 SOX9 SRY
9 splenic disease 10.0 SOX9 SRY
10 adenocarcinoma 10.0
11 seminoma 10.0
12 alveolar soft-part sarcoma 9.9 SOX9 SRY
13 thymus mucoepidermoid carcinoma 9.8 AMH SRY
14 tooth disease 9.8 SOX9 SRY
15 polyneuropathy 9.8
16 amenorrhea 9.8
17 endometrial adenocarcinoma 9.8
18 aortic aneurysm 9.8
19 clear cell adenocarcinoma 9.8
20 aortic coarctation 9.8
21 denys-drash syndrome 9.8
22 growth hormone deficiency 9.8
23 precocious puberty 9.8
24 hypospadias 9.8
25 aneurysm 9.8
26 nephrotic syndrome 9.8
27 diabetes insipidus, nephrogenic 9.8 AMH AMHR2
28 capillary lymphangioma 9.7 AMH SRY
29 idiopathic recurrent pericarditis 9.7 DHH SOX9 SRY
30 farmer's lung 9.6 DHH SOX9 SRY
31 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 9.6 FOXL2 SOX9 SRY
32 spondylolysis 9.5 AMH FOXL2
33 adrenoleukodystrophy 9.4 AMH FOXL2
34 sphingolipidosis 9.4 AMH AMHR2 SRY
35 avoidant personality disorder 9.4 AMH FOXL2 SRY
36 meacham syndrome 9.3 AMH SOX9 SRY
37 pseudopterygium 9.2 AMH FOXL2
38 multiple synostoses syndrome 8.8 AMH AMHR2 SOX9 SRY
39 46 xx gonadal dysgenesis 8.3 AMH DHH FOXL2 SOX9 SRY
40 brucella melitensis brucellosis 7.8 AMH AMHR2 DHH FOXL2 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:

26
id 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:

44
id 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 SOX9 AMH AMHR2 FOXL2
3 reproductive system MP:0005389 9.02 AMH AMHR2 DHH FOXL2 SOX9

Drugs & Therapeutics for Mixed Gonadal Dysgenesis

Drugs for Mixed Gonadal Dysgenesis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aldesleukin Approved Phase 2 85898-30-2, 110942-02-4
2 Adjuvants, Immunologic Phase 2
3 Anti-HIV Agents Phase 2
4 Anti-Infective Agents Phase 2
5 Anti-Retroviral Agents Phase 2
6 Antiviral Agents Phase 2
7 Freund's Adjuvant Phase 2
8 Vaccines Phase 2
9 Hemostatics
10 Antidepressive Agents
11 Antimanic Agents
12 Central Nervous System Depressants
13 Lithium carbonate 554-13-2
14 Psychotropic Drugs
15 Tranquilizing Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 p53 Vaccine for Ovarian Cancer Terminated NCT00001827 Phase 2
2 Health Needs of Patients With Kallmann Syndrome Completed NCT01914172
3 Study of the Pathophysiological Mechanisms Involved in Bleeding Events Completed NCT01314560
4 Lithium Carbonate in Treating Patients With Acute Intestinal Graft-Versus-Host-Disease (GVHD) After Donor Stem Cell Transplant Completed NCT00408681 lithium carbonate
5 Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions Completed NCT00758108
6 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Recruiting NCT02787486
7 DNA Analysis in Samples From Younger Patients With Germ Cell Tumors and Their Parents or Siblings Recruiting NCT01434355

Search 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:

39
Testis, Cervix, Testes

Publications for Mixed Gonadal Dysgenesis

Articles related to Mixed Gonadal Dysgenesis:

(show top 50) (show all 108)
id Title Authors Year
1
Retraction: Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene. ( 27777913 )
2016
2
Mixed gonadal dysgenesis in YaoundAc: A preliminary experience about three cases. ( 27502884 )
2016
3
Mixed Gonadal Dysgenesis with an unusual "inverted" Y chromosome. ( 27941186 )
2016
4
A Case of Chromosomal Disorders of Sex Development with Transverse Testicular Ectopia Mimicking Mixed Gonadal Dysgenesis. ( 27765586 )
2016
5
A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar. ( 25569267 )
2015
6
Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene. ( 26817010 )
2015
7
Identification of X Monosomy Cells From a Gonad of Mixed Gonadal Dysgenesis With a 46,XY Karyotype: Case Report. ( 25860218 )
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
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
13
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
14
Ascending aortic aneurysm in a patient with mixed gonadal dysgenesis. ( 21130980 )
2011
15
Mixed gonadal dysgenesis with 45,X/46,X,idic(Y) karyotype: a case report. ( 21934259 )
2011
16
Mixed gonadal dysgenesis: whole life follow-up of a rare case. ( 22073950 )
2011
17
Unexpected finding of an intact distal vagina in an infant with mixed gonadal dysgenesis. ( 22145487 )
2011
18
Atypical presentation and management dilemma of mixed gonadal dysgenesis. ( 20637459 )
2011
19
Molecular analysis of ring y chromosome in a 10-year-old boy with mixed gonadal dysgenesis and growth hormone deficiency. ( 24052714 )
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
Mix gonadal dysgenesis associated with ring Y chromosome mosaics in a phenotypic male. ( 19752596 )
2009
23
Mixed gonadal dysgenesis in a 45,X neonate with chromosome Y material in the dysgenetic gonad. ( 20101895 )
2009
24
Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype. ( 19650415 )
2009
25
Laparoscopic diagnosis and treatment of a phenotypic girl with mosaic 45,XO/46,X,idic(Y) mixed gonadal dysgenesis. ( 19159702 )
2009
26
[Diagnosis and management of 46,XY mixed gonadal dysgenesis and disorder of sexual differentiation]. ( 19535881 )
2009
27
Gender dysphoria and gender change in an adolescent with 45,X/46,XY mixed gonadal dysgenesis. ( 19085701 )
2009
28
Long term follow-up of a child with ambiguous genitalia, mixed gonadal dysgenesis, and unusual mosaicism. ( 19960897 )
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
Laparoscopic excision of Mullerian structures in a neonate with mixed gonadal dysgenesis: a case report. ( 18158817 )
2007
33
Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome. ( 18163932 )
2007
34
Isodicentric Y (p11.32) chromosome in an infant with mixed gonadal dysgenesis. ( 16530711 )
2006
35
Molecular evaluation of the SRY gene for gonads of patients with mixed gonadal dysgenesis. ( 16045561 )
2005
36
Ectopically located gonads in a patient with mixed gonadal dysgenesis: detection by diffusion-weighted MRI. ( 16132436 )
2005
37
A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis. ( 16390857 )
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
Seminoma and a gonadoblastoma in an infant with mixed gonadal dysgenesis. ( 12915842 )
2003
43
Laparoscopic approach to mA1llerian derivatives in a male with mixed gonadal dysgenesis. ( 12709622 )
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
True hermaphroditism and mixed gonadal dysgenesis in young children: a clinicopathologic study of 10 cases. ( 12379746 )
2002
47
Mixed gonadal dysgenesis and precocious puberty. ( 12169778 )
2002
48
Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis. ( 11694229 )
2001
49
Penoscrotal hypospadias and coarctation of the aorta with mixed gonadal dysgenesis. ( 10786990 )
2000
50
Twenty-four hour, non-invasive, neonatal chromosome analysis--application in a case of mixed gonadal dysgenesis. ( 11126707 )
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:

id 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:

id 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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