MCID: MXD016
MIFTS: 35

Mixed Gonadal Dysgenesis

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

Aliases & Classifications for Mixed Gonadal Dysgenesis

MalaCards integrated aliases for Mixed Gonadal Dysgenesis:

Name: Mixed Gonadal Dysgenesis 12 15
Gonadal Dysgenesis Mixed 74 20 54
Gonadal Dysgenesis, Mixed 44 71

Classifications:



External Ids:

Disease Ontology 12 DOID:14449
MeSH 44 D006060
NCIt 50 C120199
SNOMED-CT 67 205682006
UMLS 71 C0018055

Summaries for Mixed Gonadal Dysgenesis

Disease Ontology : 12 A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis.

MalaCards based summary : Mixed Gonadal Dysgenesis, also known as gonadal dysgenesis mixed, is related to 45,x/46,xy mixed gonadal dysgenesis and turner syndrome. An important gene associated with Mixed Gonadal Dysgenesis is SRY (Sex Determining Region Y), and among its related pathways/superpathways are Steroid hormone biosynthesis and superpathway of steroid hormone biosynthesis. Affiliated tissues include testis, uterus and testes, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 74 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 top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 45,x/46,xy mixed gonadal dysgenesis 32.4 SRY MIR302C DHH AMH
2 turner syndrome 30.9 SRY CYP21A2 AMH
3 dysgerminoma 30.4 SRY MIR302C KIT
4 hermaphroditism 30.3 SRY SOX9 FOXL2 AMHR2 AMH
5 germinoma 30.2 KIT CYP21A2 CGB5
6 hypospadias 30.2 SRY SRD5A1 SOX9 NR5A1
7 gonadal dysgenesis 30.1 SRY SOX9 NR5A1 KIT FOXL2 DHH
8 gonadoblastoma 29.9 SRY SOX9 NR5A1 KIT FOXL2 CGB5
9 lipoid congenital adrenal hyperplasia 29.7 SRD5A1 NR5A1 CYP21A2
10 polycystic ovary syndrome 29.7 SRD5A1 CYP21A2 AMH
11 46,xy partial gonadal dysgenesis 29.6 SRY SOX9 NR5A1 DHH
12 leydig cell tumor 29.5 NR5A1 KIT CYP21A2
13 46,xx sex reversal 29.1 SRY SOX9 NR5A1 FOXL2 DHH AMH
14 androgen insensitivity syndrome 29.0 SRY SRD5A1 NR5A1 DHRS11 AMH
15 disorder of sexual development 29.0 SOX9 NR5A1 FOXL2 DHRS11 DHH CYP21A2
16 male infertility 28.7 SRY NR5A1 KIT DAZ4 CYP21A2 AZF1
17 pseudohermaphroditism 28.4 SRY SRD5A1 SOX9 NR5A1 DHRS11 DHH
18 cryptorchidism, unilateral or bilateral 28.2 SRD5A1 SOX9 NR5A1 KIT DHRS11 DHH
19 47,xyy 10.4
20 amenorrhea 10.4
21 seminoma 10.4
22 hypogonadism 10.4
23 azoospermia 10.3
24 infertility 10.3
25 corpus luteum cyst 10.2 FOXL2 CGB5
26 testicular gonadoblastoma 10.2 KIT AMH
27 persistent mullerian duct syndrome, types i and ii 10.2 AMHR2 AMH
28 ovarian gonadoblastoma 10.2 SOX9 KIT
29 mullerian aplasia and hyperandrogenism 10.2 FOXL2 AMH
30 denys-drash syndrome 10.2
31 impotence 10.2
32 germ cells tumors 10.2
33 sex chromosome disorder of sex development 10.2
34 teratoma 10.1 KIT CGB5 AMH
35 luteoma 10.1 FOXL2 CYP21A2
36 plexiform neurofibroma 10.0 KIT DHH
37 juvenile type testicular granulosa cell tumor 10.0 MIR302C FOXL2
38 testicular granulosa cell tumor 10.0 MIR302C FOXL2
39 oligospermia 10.0 KIT DAZ4 AMH
40 alopecia, androgenetic, 1 10.0 SRD5A1 CYP21A2
41 coarctation of aorta 10.0
42 hypertelorism 10.0
43 wilms tumor 1 10.0
44 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.0
45 hemochromatosis, type 1 10.0
46 insulin-like growth factor i 10.0
47 46,xy gonadal dysgenesis with minifascicular neuropathy 10.0
48 meningioma, familial 10.0
49 endometrial cancer 10.0
50 scoliosis 10.0

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 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-102 9.36 KIT
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.36 SRD5A1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-122 9.36 FOXL2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-125 9.36 FOXL2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 9.36 FOXL2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.36 KIT
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.36 KIT
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 9.36 KIT
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-67 9.36 FOXL2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-9 9.36 FOXL2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-96 9.36 SRD5A1

MGI Mouse Phenotypes related to Mixed Gonadal Dysgenesis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.56 AMH AMHR2 DHH FOXL2 KIT NR5A1
2 reproductive system MP:0005389 9.23 AMH AMHR2 DHH FOXL2 KIT NR5A1

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:

40
Testis, Uterus, Testes, Colon, Ovary, Prostate, Cervix

Publications for Mixed Gonadal Dysgenesis

Articles related to Mixed Gonadal Dysgenesis:

(show top 50) (show all 353)
# Title Authors PMID Year
1
Masculinizing genitoplasty in intersex patients. 61 54
16148681 2005
2
Molecular evaluation of the SRY gene for gonads of patients with mixed gonadal dysgenesis. 61 54
16045561 2005
3
Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism. 61 54
15223166 2004
4
Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis. 54 61
11694229 2001
5
Sry gene detection in gonads of intersex patients using FISH. 54 61
9250915 1997
6
[Association of mixed gonadal dysgenesis and non-classic 21-hydroxylase deficiency]. 54 61
9033792 1996
7
Use of laparoscopy in intersex patients. 61 54
7637087 1995
8
Masculinising surgery in disorders/differences of sex development: clinician and participant-evaluated appearance and function. 61
33587786 2021
9
Self- and proxy-reported outcomes after surgery in people with disorders/differences of sex development (DSD) in Europe (dsd-LIFE). 61
33358555 2020
10
Gender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): A systematic review and meta-analysis. 61
33246831 2020
11
Gonadal dysgenesis in Turner syndrome with Y-chromosome mosaicism: Two case reports. 61
33344568 2020
12
Post-operative complications following feminizing genitoplasty in moderate to severe genital atypia: Results from a multicenter, observational prospective cohort study. 61
32624410 2020
13
Successful surgical sperm retrieval from a patient with 45,X/46,XY mosaicism followed by in vitro fertilization pregnancy: A case report. 61
33019396 2020
14
Hemoptysis: A Rare Presentation of Mixed Gonadal Dysgenesis. 61
33311912 2020
15
Community perspectives on difference of sex development (DSD) diagnoses: A crowdsourced survey. 61
32409277 2020
16
Description of diagnosis of 45,X/46,XY ovotesticular DSD. 61
33562981 2020
17
Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis. 61
31905442 2019
18
Clinical management in mixed gonadal dysgenesis with chromosomal mosaicism: Considerations in newborns and adolescents. 61
31668295 2019
19
Disorders of Sex Development: A 10 Years Experience with 73 Cases from the Kashmir Valley. 61
31803600 2019
20
[Ambiguous genitalia in newborn: Mixed gonadal dysgenesis?] 61
29866500 2019
21
Cytogenetic profile of patients with clinical spectrum of ambiguous genitalia, amenorrhea, and Turner phenotype: A 21-year single-center experience. 61
31207162 2019
22
Frequency of Ambiguous Genitalia in 14,177 Newborns in Turkey. 61
31139765 2019
23
Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism. 61
31060547 2019
24
Gonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY. 61
30753444 2019
25
Malignant Leydig Cell Tumor in Elderly Complete Androgen Insensitivity Patient: A Case Report. 61
31477948 2019
26
Gonadal Tissue Cryopreservation for Children with Differences of Sex Development. 61
31509845 2019
27
The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center. 61
30017534 2019
28
Ambiguous genitalia: An overview of 7 years experience at the Children's Hospital & Institute of Child Health, Lahore, Pakistan. 61
30881414 2019
29
Uterus in mixed gonadal dysgenesis was detected by continuous irregular vaginal bleeding. 61
31666766 2019
30
Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis. 61
31816618 2019
31
Management of pediatric patients with DSD and ambiguous genitalia: Balancing the child's moral claims to self-determination with parental values and preferences. 61
29903608 2018
32
THE RARE CASE OF MIXED GONADAL DYSGENESIS, MOSAIC KARYOTYPE, PETROCLIVAL MENINGIOMA AND IDIOPATHIC HYPERDEHYDROEPIANDROSTERONISM. 61
31149308 2018
33
Disorders of sex development: a study of 194 cases. 61
29386228 2018
34
The Mosaicism Ratio of 45,X May Explain the Phenotype in a Case of Mixed Gonadal Dysgenesis. 61
29879705 2018
35
Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis. 61
30624506 2018
36
Genetic diagnostics of male infertility in clinical practice. 61
28601348 2017
37
45,X/46,XY ovotesticular disorder of sex development revisited: undifferentiated gonadal tissue may be mistaken as ovarian tissue. 61
28742519 2017
38
Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence. 61
27862157 2017
39
Presence of Germ Cells in Disorders of Sex Development: Implications for Fertility Potential and Preservation. 61
27840018 2017
40
A Case of Chromosomal Disorders of Sex Development with Transverse Testicular Ectopia Mimicking Mixed Gonadal Dysgenesis. 61
27765586 2017
41
Painful ovulation in a 46,XX SRY -ve adult male with SOX9 duplication. 61
28620497 2017
42
Fertility in disorders of sex development: A review. 61
27856173 2016
43
Scrotal abscess: Varied etiology, associations, and management. 61
27695207 2016
44
Retraction: Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene. 61
27777913 2016
45
Mixed gonadal dysgenesis in Yaoundé: A preliminary experience about three cases. 61
27502884 2016
46
[Clinical and genetic analysis for a patient with 45, X/46, X, Yqh- and mixed gonadal dysgenesis]. 61
27060319 2016
47
Ambiguous genitalia: A rare case report. 61
26960641 2016
48
408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing. 61
28018429 2016
49
Gonadal malignancy in 202 female patients with disorders of sex development containing Y-chromosome material. 61
26608236 2016
50
Mixed Gonadal Dysgenesis with an unusual "inverted" Y chromosome. 61
27941186 2016

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
Show member pathways
10.63 SRD5A1 DHRS11 CYP21A2
2
Show member pathways
10.48 SRD5A1 CYP21A2
3 10 AMHR2 AMH

GO Terms for Mixed Gonadal Dysgenesis

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.91 SRY SRD5A1 SOX9 NR5A1 FOXL2 DAZ4
2 positive regulation of gene expression GO:0010628 9.85 SRY SOX9 NR5A1 KIT AMH
3 steroid metabolic process GO:0008202 9.69 SRD5A1 DHRS11 CYP21A2
4 steroid biosynthetic process GO:0006694 9.61 SRD5A1 DHRS11 CYP21A2
5 male gonad development GO:0008584 9.55 SRD5A1 SOX9 NR5A1 KIT AMHR2
6 cell fate specification GO:0001708 9.54 SOX9 DHH
7 female gonad development GO:0008585 9.52 NR5A1 AMHR2
8 positive regulation of male gonad development GO:2000020 9.5 SRY SOX9 NR5A1
9 urogenital system development GO:0001655 9.49 SRD5A1 AMH
10 regulation of steroid biosynthetic process GO:0050810 9.48 NR5A1 DHH
11 sex determination GO:0007530 9.43 SRD5A1 NR5A1 AMH
12 Mullerian duct regression GO:0001880 9.4 AMHR2 AMH
13 sex differentiation GO:0007548 9.26 SRY SRD5A1 AMHR2 AMH
14 male sex determination GO:0030238 8.92 SRY SOX9 NR5A1 DHH

Sources for Mixed Gonadal Dysgenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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