MCID: 45X001
MIFTS: 37

45,x/46,xy Mixed Gonadal Dysgenesis

Categories: Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for 45,x/46,xy Mixed Gonadal Dysgenesis

MalaCards integrated aliases for 45,x/46,xy Mixed Gonadal Dysgenesis:

Name: 45,x/46,xy Mixed Gonadal Dysgenesis 11 58 14
45,x0/46,xy Mixed Gonadal Dysgenesis 58
45,x0/46,xy Mgd 58
45,x/46,xy Mgd 58

Characteristics:


Age Of Onset:

All ages 58

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for 45,x/46,xy Mixed Gonadal Dysgenesis

Orphanet: 58 A rare disorder/difference of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and associated to abnormal gonadal development and features of Turner-Syndrome.

MalaCards based summary: 45,x/46,xy Mixed Gonadal Dysgenesis, also known as 45,x0/46,xy mixed gonadal dysgenesis, is related to turner syndrome and mixed gonadal dysgenesis. An important gene associated with 45,x/46,xy Mixed Gonadal Dysgenesis is SRY (Sex Determining Region Y), and among its related pathways/superpathways are Nervous system development and Mammalian disorder of sexual development. Affiliated tissues include cervix, ovary and kidney, and related phenotypes are short stature and unilateral cryptorchidism

Disease Ontology: 11 A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY.

Related Diseases for 45,x/46,xy Mixed Gonadal Dysgenesis

Diseases in the Mixed Gonadal Dysgenesis family:

45,x/46,xy Mixed Gonadal Dysgenesis

Diseases related to 45,x/46,xy Mixed Gonadal Dysgenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 turner syndrome 30.8 SRY NR0B1 AMH
2 mixed gonadal dysgenesis 29.7 SRY NR5A1 NR0B1 MIR302C DMRT1 AMH
3 azoospermia 29.5 NR5A1 NR0B1 GATA4 AMH
4 gonadal dysgenesis 29.3 ZFPM2 SRY NR5A1 NR0B1 DMRT1 DHH
5 down syndrome 10.7
6 gender incongruence 10.4
7 infertility 10.4
8 childhood germ cell cancer 10.2 MIR302C DMRT1
9 testicular granulosa cell tumor 10.2 MIR302C AMH
10 spermatocytoma 10.1 MIR302C DMRT1
11 mixed germ cell cancer 10.1 DMRT1 AMH
12 ovarian gonadoblastoma 10.1 NR0B1 DMRT1
13 ovarian dysgenesis 2 10.1 NR0B1 DMRT1
14 spermatogenic failure, x-linked, 1 10.1 DMRT1 AMH
15 mixed germ cell-sex cord neoplasm 10.0 GATA4 DMRT1
16 testicular thecoma 10.0 ZFPM2 GATA4
17 central precocious puberty 10.0 NR0B1 AMH
18 diaphragmatic eventration 10.0 ZFPM2 GATA4
19 testicular germ cell cancer 10.0 DMRT1 AMH
20 syndrome with 46,xy disorder of sex development 10.0 SRY NR5A1
21 endodermal sinus tumor 10.0 MIR302C GATA4
22 diaphragm disease 10.0 ZFPM2 GATA4
23 ebstein anomaly 9.9 ZFPM2 GATA4
24 holt-oram syndrome 9.9 PRODH GATA4
25 spermatogenic failure 8 9.9 NR5A1 DMRT1
26 spermatogenic failure 10 9.9 NR5A1 DMRT1
27 germ cell cancer 9.9 PRODH MIR302C GATA4
28 leydig cell hypoplasia 9.9 NR5A1 AMH
29 tricuspid atresia 9.9 ZFPM2 PRODH GATA4
30 blepharophimosis, ptosis, and epicanthus inversus 9.9 NR5A1 AMH
31 atrioventricular septal defect 9.8 ZFPM2 PRODH GATA4
32 ventricular septal defect 9.8 ZFPM2 PRODH GATA4
33 heart septal defect 9.8 ZFPM2 PRODH GATA4
34 genetic non-acquired premature ovarian failure 9.8 NR5A1 AMH
35 testicular disease 9.8 DMRT1 AMH
36 patent ductus arteriosus 1 9.8 ZFPM2 PRODH GATA4
37 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 9.8 NR5A1 NR0B1
38 corticosterone methyloxidase type i deficiency 9.8 NR5A1 NR0B1
39 atrial heart septal defect 9.8 ZFPM2 PRODH GATA4
40 46,xy sex reversal 2 9.8 NR5A1 NR0B1
41 adrenal cortical hypofunction 9.8 NR5A1 NR0B1
42 46,xy sex reversal 3 9.8 NR5A1 GATA4
43 adrenal hypoplasia, congenital 9.8 NR5A1 NR0B1
44 sex cord-gonadal stromal tumor 9.8 NR5A1 AMH
45 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 9.8 NR5A1 NR0B1
46 teratoma 9.8 GATA4 DMRT1 AMH
47 glycerol kinase deficiency 9.8 NR5A1 NR0B1
48 familial glucocorticoid deficiency 9.8 NR5A1 NR0B1
49 juvenile type testicular granulosa cell tumor 9.7 NR5A1 MIR302C AMH
50 tetralogy of fallot 9.7 ZFPM2 PRODH GATA4

Graphical network of the top 20 diseases related to 45,x/46,xy Mixed Gonadal Dysgenesis:



Diseases related to 45,x/46,xy Mixed Gonadal Dysgenesis

Symptoms & Phenotypes for 45,x/46,xy Mixed Gonadal Dysgenesis

Human phenotypes related to 45,x/46,xy Mixed Gonadal Dysgenesis:

58 30 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
2 unilateral cryptorchidism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012741
3 muscle hypertrophy of the lower extremities 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008968
4 increased circulating gonadotropin level 58 30 Frequent (33%) Frequent (79-30%)
HP:0000837
5 micropenis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000054
6 azoospermia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000027
7 ambiguous genitalia, male 58 30 Frequent (33%) Frequent (79-30%)
HP:0000033
8 urogenital sinus anomaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0100779
9 male infertility 58 30 Frequent (33%) Frequent (79-30%)
HP:0003251
10 bilateral cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0008689
11 ambiguous genitalia, female 58 30 Frequent (33%) Frequent (79-30%)
HP:0000061
12 penoscrotal hypospadias 58 30 Frequent (33%) Frequent (79-30%)
HP:0000808
13 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
14 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
15 high palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000218
16 hypothyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000821
17 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000365
18 delayed skeletal maturation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002750
19 visual impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000505
20 delayed puberty 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000823
21 intellectual disability, mild 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001256
22 cubitus valgus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002967
23 wide intermamillary distance 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006610
24 micrognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000347
25 recurrent otitis media 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000403
26 webbed neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000465
27 obesity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001513
28 low posterior hairline 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002162
29 short 4th metacarpal 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010044
30 horseshoe kidney 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000085
31 epicanthus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000286
32 pectus excavatum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000767
33 bicuspid aortic valve 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001647
34 prolonged qt interval 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001657
35 coarctation of aorta 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001680
36 gonadoblastoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000150
37 bifid scrotum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000048
38 low-set, posteriorly rotated ears 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000368
39 hallux valgus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001822
40 gynecomastia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000771
41 cervix cancer 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030079
42 epispadias 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000039
43 nail dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002164
44 tachycardia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001649
45 autistic behavior 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000729
46 streak ovary 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010464
47 developmental glaucoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001087
48 short metatarsal 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010743
49 chordee 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000041
50 ovotestis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012861

MGI Mouse Phenotypes related to 45,x/46,xy Mixed Gonadal Dysgenesis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.56 AMH DHH DMRT1 GATA4 NR0B1 NR5A1
2 reproductive system MP:0005389 9.23 AMH DHH DMRT1 GATA4 NR0B1 NR5A1

Drugs & Therapeutics for 45,x/46,xy Mixed Gonadal Dysgenesis

Search Clinical Trials, NIH Clinical Center for 45,x/46,xy Mixed Gonadal Dysgenesis

Genetic Tests for 45,x/46,xy Mixed Gonadal Dysgenesis

Anatomical Context for 45,x/46,xy Mixed Gonadal Dysgenesis

Organs/tissues related to 45,x/46,xy Mixed Gonadal Dysgenesis:

MalaCards : Cervix, Ovary, Kidney, Heart

Publications for 45,x/46,xy Mixed Gonadal Dysgenesis

Articles related to 45,x/46,xy Mixed Gonadal Dysgenesis:

# Title Authors PMID Year
1
Frequency of Ambiguous Genitalia in 14,177 Newborns in Turkey. 62
31139765 2019
2
Gonadal malignancy in 202 female patients with disorders of sex development containing Y-chromosome material. 62
26608236 2016
3
[The diagnosis, treatment and following up of 7 patients with 45, X/46, XY mixed gonadal dysgenesis]. 62
26759215 2015
4
45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction. 62
24554973 2014
5
The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants. 62
20699606 2011
6
Atypical presentation and management dilemma of mixed gonadal dysgenesis. 62
20637459 2011
7
Gender dysphoria and gender change in an adolescent with 45,X/46,XY mixed gonadal dysgenesis. 62
19085701 2009
8
Disorders of gonadal development: a broad clinical, cytogenetic and histopathologic spectrum. 62
17551482 2007
9
Fragile X and mosaic 45,X/46,XY mixed gonadal dysgenesis in a girl with ambiguous genitalia. 62
14699624 2004

Variations for 45,x/46,xy Mixed Gonadal Dysgenesis

Expression for 45,x/46,xy Mixed Gonadal Dysgenesis

Search GEO for disease gene expression data for 45,x/46,xy Mixed Gonadal Dysgenesis.

Pathways for 45,x/46,xy Mixed Gonadal Dysgenesis

Pathways related to 45,x/46,xy Mixed Gonadal Dysgenesis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 ZFPM2 SRY NR5A1 GATA4 DMRT1 DHH
2
Show member pathways
10.86 ZFPM2 SRY NR5A1 GATA4 DMRT1 DHH
3 10.85 SRY NR0B1

GO Terms for 45,x/46,xy Mixed Gonadal Dysgenesis

Cellular components related to 45,x/46,xy Mixed Gonadal Dysgenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.4 ZFPM2 SRY NR5A1 NR0B1 GATA4 DMRT1

Biological processes related to 45,x/46,xy Mixed Gonadal Dysgenesis according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.27 ZFPM2 SRY NR0B1 GATA4 DMRT1
2 cell differentiation GO:0030154 10.07 AMH DMRT1 GATA4 SRY ZFPM2
3 male gonad development GO:0008584 9.95 DMRT1 GATA4 NR0B1 NR5A1
4 adrenal gland development GO:0030325 9.85 NR5A1 NR0B1
5 sex differentiation GO:0007548 9.85 SRY DMRT1 AMH
6 anatomical structure morphogenesis GO:0009653 9.84 ZFPM2 SRY GATA4
7 Sertoli cell differentiation GO:0060008 9.8 NR5A1 NR0B1 DMRT1
8 regulation of steroid biosynthetic process GO:0050810 9.78 NR5A1 DHH
9 gonadal mesoderm development GO:0007506 9.76 ZFPM2 AMH
10 Leydig cell differentiation GO:0033327 9.76 AMH DHH NR0B1 NR5A1
11 negative regulation of female gonad development GO:2000195 9.73 ZFPM2 NR5A1
12 gonad development GO:0008406 9.69 NR0B1 AMH
13 sex determination GO:0007530 9.65 NR5A1 NR0B1 AMH
14 animal organ development GO:0048513 9.56 ZFPM2 GATA4
15 positive regulation of male gonad development GO:2000020 9.56 ZFPM2 SRY NR5A1 DMRT1
16 system development GO:0048731 9.49 ZFPM2 GATA4
17 male sex determination GO:0030238 9.32 SRY NR5A1 NR0B1 DMRT1 DHH

Molecular functions related to 45,x/46,xy Mixed Gonadal Dysgenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II-specific DNA-binding transcription factor binding GO:0061629 9.1 ZFPM2 NR0B1 GATA4

Sources for 45,x/46,xy Mixed Gonadal Dysgenesis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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