MCID: MXD016
MIFTS: 34

Mixed Gonadal Dysgenesis malady

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

Aliases & Classifications for Mixed Gonadal Dysgenesis

Aliases & Descriptions 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 is Deactivation of the beta-catenin transactivating complex. The drugs Estradiol and Ethinyl Estradiol have been mentioned in the context of this disorder. Affiliated tissues include testis, cervix and testes.

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)
id Related Disease Score Top Affiliating Genes
1 45,x/46,xy mixed gonadal dysgenesis 12.3
2 gonadal dysgenesis 10.8
3 hermaphroditism 10.1
4 gonadoblastoma 10.1
5 abl1 kd-related altered drug metabolism 10.1 DHH SRY
6 8p23.1 duplication syndrome 10.1 SOX9 SRY
7 spermatogenic failure, y-linked, 1 10.0 SOX9 SRY
8 turner syndrome 10.0
9 pseudohermaphroditism 10.0
10 intraventricular meningioma 10.0 SOX9 SRY
11 sphingolipidosis 10.0 AMHR2 SRY
12 splenic disease 10.0 SOX9 SRY
13 alveolar soft-part sarcoma 10.0 SOX9 SRY
14 mantle cell lymphoma 10.0 DAZ4 SRY
15 deafness, autosomal recessive 51 10.0 SOX9 SRY
16 adenosquamous cell lung carcinoma 10.0 DAZ4 SRY
17 adenocarcinoma 9.9
18 seminoma 9.9
19 autosomal dominant optic atrophy and late-onset deafness 9.9 DHH SOX9 SRY
20 farmer's lung 9.9 DHH SOX9 SRY
21 cone dystrophy 9.9 AMHR2 SOX9 SRY
22 benign essential hypertension 9.8 SOX9 SRY
23 hypospadias 9.8
24 aneurysm 9.8
25 nephrotic syndrome 9.8
26 polyneuropathy 9.8
27 amenorrhea 9.8
28 endometrial adenocarcinoma 9.8
29 aortic aneurysm 9.8
30 clear cell adenocarcinoma 9.8
31 aortic coarctation 9.8
32 denys-drash syndrome 9.8
33 growth hormone deficiency 9.8
34 precocious puberty 9.8
35 avoidant personality disorder 9.8 DAZ4 FOXL2 SRY
36 orofaciodigital syndrome x 9.7 FOXL2 SOX9 SRY
37 46 xx gonadal dysgenesis 9.6 DHH FOXL2 SOX9 SRY
38 brucella melitensis brucellosis 9.2 AMHR2 DAZ4 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

Drugs & Therapeutics for Mixed Gonadal Dysgenesis

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

(show top 50) (show all 98)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757 53477783
2
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
3
Moxifloxacin Approved, Investigational Phase 3 354812-41-2, 151096-09-2 152946
4
Norgestimate Approved Phase 3 35189-28-7 6540478
5 Topoisomerase Inhibitors Phase 3,Phase 2
6 Anti-Bacterial Agents Phase 3
7 Anti-Infective Agents Phase 3,Phase 2
8 Contraceptive Agents Phase 3
9 Contraceptives, Oral Phase 3
10 Contraceptives, Oral, Combined Phase 3
11 Estradiol 17 beta-cypionate Phase 3
12 Estradiol 3-benzoate Phase 3
13 Estradiol valerate Phase 3 979-32-8
14 Fluoroquinolones Phase 3
15 Norgestimate, ethinyl estradiol drug combination Phase 3
16 Nucleic Acid Synthesis Inhibitors Phase 3
17 Polyestradiol phosphate Phase 3
18
Ondansetron Approved Phase 2 99614-02-5 4595
19
alemtuzumab Approved, Investigational Phase 2 216503-57-0
20
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
21
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
22
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
23
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
24
Busulfan Approved, Investigational Phase 2 55-98-1 2478
25
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
26
Carmustine Approved Phase 2 154-93-8 2578
27
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
28
Etoposide Approved Phase 2 33419-42-0 36462
29
Melphalan Approved Phase 2 148-82-3 4053 460612
30
Thiotepa Approved Phase 2 52-24-4 5453
31
Aldesleukin Approved Phase 2 85898-30-2, 110942-02-4
32 Anti-Anxiety Agents Phase 2
33 Antiemetics Phase 2
34 Antipruritics Phase 2
35 Antipsychotic Agents Phase 2
36 Autonomic Agents Phase 2
37 Central Nervous System Depressants Phase 2
38 Dermatologic Agents Phase 2
39 Gastrointestinal Agents Phase 2
40 Neurotransmitter Agents Phase 2
41 Peripheral Nervous System Agents Phase 2
42 Psychotropic Drugs Phase 2
43
Serotonin Phase 2 50-67-9 5202
44 Serotonin Agents Phase 2
45 Serotonin Antagonists Phase 2
46 Tranquilizing Agents Phase 2
47 Anti-Inflammatory Agents Phase 2
48 Antineoplastic Agents, Hormonal Phase 2
49 Calcineurin Inhibitors Phase 2
50 glucocorticoids Phase 2

Interventional clinical trials:

(show all 26)
id Name Status NCT ID Phase
1 Moxifloxacin in Preventing Bacterial Infections in Patients Who Have Undergone Donor Stem Cell Transplant Terminated NCT00324324 Phase 3
2 Ondansetron in Preventing Nausea and Vomiting in Patients Undergoing Stem Cell Transplant Completed NCT00795769 Phase 2
3 Ravuconazole in Preventing Fungal Infections in Patients Undergoing Allogeneic Stem Cell Transplantation Completed NCT00064311 Phase 1, Phase 2
4 Campath-1H + FK506 and Methylprednisolone for GVHD Completed NCT00109993 Phase 2
5 Alemtuzumab and Glucocorticoids in Treating Newly Diagnosed Acute Graft-Versus-Host Disease in Patients Who Have Undergone a Donor Stem Cell Transplant Completed NCT00410657 Phase 2
6 High-Dose Chemotherapy, Total-Body Irradiation, and Autologous Stem Cell Transplantation or Bone Marrow Transplantation in Treating Patients With Hematologic Cancer or Solid Tumors Completed NCT00060255 Phase 2
7 p53 Vaccine for Ovarian Cancer Terminated NCT00001827 Phase 2
8 Ipilimumab After Allogeneic Stem Cell Transplant in Treating Patients With Persistent or Progressive Cancer Completed NCT00060372 Phase 1
9 Presence of Donor-Derived DNA in Semen Samples From Cancer Survivors Who Underwent Donor Stem Cell Transplant Terminated NCT01077440 Phase 1
10 Study of the Pathophysiological Mechanisms Involved in Bleeding Events Completed NCT01314560
11 Lithium Carbonate in Treating Patients With Acute Intestinal Graft-Versus-Host-Disease (GVHD) After Donor Stem Cell Transplant Completed NCT00408681
12 Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions Completed NCT00758108
13 Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated Diseases Completed NCT01252901
14 Aprepitant, Granisetron, & Dexamethasone in Preventing Nausea & Vomiting in Pts. Receiving Cyclophosphamide Before a Stem Cell Transplant Completed NCT00293384
15 Study of the Emotional Needs of Caregivers of Stem Cell Transplantation Patients Completed NCT00082654
16 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Recruiting NCT02787486
17 DNA Analysis in Samples From Younger Patients With Germ Cell Tumors and Their Parents or Siblings Recruiting NCT01434355
18 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
19 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
20 Health Needs of Patients With Kallmann Syndrome Active, not recruiting NCT01914172
21 High-Dose Chemotherapy With or Without Total-Body Irradiation Followed by Autologous Stem Cell Transplant in Treating Patients With Hematologic Cancer or Solid Tumors Active, not recruiting NCT00536601
22 T Cells in Predicting Acute Graft-Versus-Host Disease in Patients Undergoing Donor Stem Cell Transplant Suspended NCT00651716
23 Deferasirox for Treating Patients Who Have Undergone Allogeneic Stem Cell Transplant and Have Iron Overload Terminated NCT01159067
24 Lactobacillus in Preventing Infection in Patients Undergoing a Donor Stem Cell Transplant for Hematologic Cancer or Myelodysplastic Syndrome Terminated NCT00946283
25 Blood Samples From Patients on a Clinical Trial to CINV During HSCT Terminated NCT00900068
26 Mechanical Stimulation in Preventing Bone Density Loss in Patients Undergoing Donor Stem Cell Transplant Withdrawn NCT01558778

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
A Case of Chromosomal Disorders of Sex Development with Transverse Testicular Ectopia Mimicking Mixed Gonadal Dysgenesis. ( 27765586 )
2016
2
Retraction: Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene. ( 27777913 )
2016
3
Mixed gonadal dysgenesis in YaoundAc: A preliminary experience about three cases. ( 27502884 )
2016
4
Mixed Gonadal Dysgenesis with an unusual "inverted" Y chromosome. ( 27941186 )
2016
5
Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene. ( 26817010 )
2015
6
A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar. ( 25569267 )
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
A rare case report of 46XY mixed gonadal dysgenesis. ( 24251183 )
2013
11
Mixed gonadal dysgenesis in a patient with de novo tas(Y;19)(p11.3;q13.4) and 45,X mosaicism. ( 23652939 )
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
Molecular analysis of ring y chromosome in a 10-year-old boy with mixed gonadal dysgenesis and growth hormone deficiency. ( 24052714 )
2011
15
Mixed gonadal dysgenesis: whole life follow-up of a rare case. ( 22073950 )
2011
16
Unexpected finding of an intact distal vagina in an infant with mixed gonadal dysgenesis. ( 22145487 )
2011
17
Atypical presentation and management dilemma of mixed gonadal dysgenesis. ( 20637459 )
2011
18
Mixed gonadal dysgenesis with 45,X/46,X,idic(Y) karyotype: a case report. ( 21934259 )
2011
19
Ascending aortic aneurysm in a patient with mixed gonadal dysgenesis. ( 21130980 )
2011
20
Mixed gonadal dysgenesis with normal karyotype: a rare case report. ( 20551542 )
2010
21
Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter? ( 20583182 )
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
Laparoscopic diagnosis and treatment of a phenotypic girl with mosaic 45,XO/46,X,idic(Y) mixed gonadal dysgenesis. ( 19159702 )
2009
25
[Diagnosis and management of 46,XY mixed gonadal dysgenesis and disorder of sexual differentiation]. ( 19535881 )
2009
26
Long term follow-up of a child with ambiguous genitalia, mixed gonadal dysgenesis, and unusual mosaicism. ( 19960897 )
2009
27
Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype. ( 19650415 )
2009
28
Gender dysphoria and gender change in an adolescent with 45,X/46,XY mixed gonadal dysgenesis. ( 19085701 )
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
Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome. ( 18163932 )
2007
32
Scrotal hysterectomy in a male patient with mixed gonadal dysgenesis 46,XY(75%)/45,X(25%). ( 18158064 )
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
Ectopically located gonads in a patient with mixed gonadal dysgenesis: detection by diffusion-weighted MRI. ( 16132436 )
2005
36
A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis. ( 16390857 )
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
Fragile X and mosaic 45,X/46,XY mixed gonadal dysgenesis in a girl with ambiguous genitalia. ( 14699624 )
2004
40
Bilateral gonadoblastomas in a dog with mixed gonadal dysgenesis. ( 15003485 )
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
Bilateral seminomas in a 45X/46XY mosaic with Turner's phenotype: an unusual case of mixed gonadal dysgenesis. ( 12755523 )
2003
44
Seminoma and a gonadoblastoma in an infant with mixed gonadal dysgenesis. ( 12915842 )
2003
45
Pediatric surgical images: mixed gonadal dysgenesis. ( 12778409 )
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
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:

id Super pathways Score Top Affiliating Genes
1 10.26 SOX9 SRY

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 9.62 DAZ4 FOXL2 SOX9 SRY
2 positive regulation of transcription, DNA-templated GO:0045893 9.54 FOXL2 SOX9 SRY
3 male gonad development GO:0008584 9.4 AMHR2 SOX9
4 sex differentiation GO:0007548 9.26 AMHR2 SRY
5 female gonad development GO:0008585 9.16 AMHR2 FOXL2
6 positive regulation of male gonad development GO:2000020 8.96 SOX9 SRY
7 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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