MCID: 45X001
MIFTS: 33

45,x/46,xy Mixed Gonadal Dysgenesis

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

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 12 58 15
45,x0/46,xy Mixed Gonadal Dysgenesis 58
45,x0/46,xy Mgd 58
45,x/46,xy Mgd 58

Characteristics:

Orphanet epidemiological data:

58
45,x/46,xy mixed gonadal dysgenesis
Inheritance: Not applicable; Age of onset: All ages; Age of death: normal life expectancy;

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

Disease Ontology : 12 A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY.

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

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 all 34)
# Related Disease Score Top Affiliating Genes
1 mixed gonadal dysgenesis 30.5 SRY MIR302C DHH AMH
2 turner syndrome 30.3 SRY NR0B1 AMH
3 gonadal dysgenesis 30.1 SRY NR0B1 DMRT1 DHH AMH
4 azoospermia 10.4
5 infertility 10.4
6 non-gestational choriocarcinoma 10.2 PRODH MIR302C
7 pediatric germ cell cancer 10.1 MIR302C DMRT1
8 dysgerminoma 10.1 SRY MIR302C
9 endodermal sinus tumor 10.0 PRODH MIR302C
10 46,xx sex reversal 1 10.0 SRY NR0B1
11 steroid inherited metabolic disorder 10.0 NR0B1 AMH
12 germ cell and embryonal cancer 9.9 PRODH MIR302C
13 campomelic dysplasia 9.9 SRY DMRT1 AMH
14 46,xy partial gonadal dysgenesis 9.9 SRY NR0B1 DHH
15 androgen insensitivity syndrome 9.9 SRY NR0B1 AMH
16 nivelon-nivelon-mabille syndrome 9.8 WNT4 NR0B1
17 46,xy sex reversal 2 9.8 WNT4 NR0B1
18 ovarian serous adenofibroma 9.8 WNT4 AMH
19 adrenal hypoplasia, congenital 9.8 WNT4 NR0B1
20 ovarian serous cystadenofibroma 9.8 WNT4 AMH
21 mullerian aplasia and hyperandrogenism 9.8 WNT4 AMH
22 testicular disease 9.7 DMRT1 AMH
23 gonadoblastoma 9.7 SRY NR0B1 DMRT1 AMH
24 ovarian gonadoblastoma 9.7 WNT4 NR0B1 DMRT1
25 cryptorchidism, unilateral or bilateral 9.6 NR0B1 DMRT1 DHH AMH
26 kallmann syndrome 9.5 WNT4 NR0B1 AMH
27 persistent mullerian duct syndrome 9.4 WNT4 NR0B1 DMRT1 AMH
28 premature menopause 9.4 WNT4 NR0B1 DMRT1 AMH
29 nonsyndromic disorders of testicular development 9.3 WNT4 SRY NR0B1 DMRT1 DHH
30 hermaphroditism 9.3 WNT4 SRY NR0B1 DMRT1 AMH
31 pseudohermaphroditism 9.2 WNT4 SRY NR0B1 DHH AMH
32 disorder of sexual development 9.1 WNT4 NR0B1 DMRT1 DHH AMH
33 46,xx sex reversal 9.0 WNT4 SRY NR0B1 DMRT1 DHH AMH
34 46,xy sex reversal 9.0 WNT4 SRY NR0B1 DMRT1 DHH AMH

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 31 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 unilateral cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0012741
3 muscle hypertrophy of the lower extremities 58 31 hallmark (90%) Very frequent (99-80%) HP:0008968
4 increased circulating gonadotropin level 58 31 frequent (33%) Frequent (79-30%) HP:0000837
5 micropenis 58 31 frequent (33%) Frequent (79-30%) HP:0000054
6 azoospermia 58 31 frequent (33%) Frequent (79-30%) HP:0000027
7 ambiguous genitalia, male 58 31 frequent (33%) Frequent (79-30%) HP:0000033
8 urogenital sinus anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0100779
9 male infertility 58 31 frequent (33%) Frequent (79-30%) HP:0003251
10 bilateral cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0008689
11 ambiguous genitalia, female 58 31 frequent (33%) Frequent (79-30%) HP:0000061
12 penoscrotal hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000808
13 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
14 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
15 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
16 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
17 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
18 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
19 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
20 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
21 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
22 cubitus valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002967
23 wide intermamillary distance 58 31 occasional (7.5%) Occasional (29-5%) HP:0006610
24 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
25 recurrent otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000403
26 webbed neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000465
27 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
28 low posterior hairline 58 31 occasional (7.5%) Occasional (29-5%) HP:0002162
29 short 4th metacarpal 58 31 occasional (7.5%) Occasional (29-5%) HP:0010044
30 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
31 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
32 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
33 bicuspid aortic valve 58 31 occasional (7.5%) Occasional (29-5%) HP:0001647
34 prolonged qt interval 58 31 occasional (7.5%) Occasional (29-5%) HP:0001657
35 coarctation of aorta 58 31 occasional (7.5%) Occasional (29-5%) HP:0001680
36 gonadoblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000150
37 bifid scrotum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000048
38 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
39 hallux valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001822
40 gynecomastia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000771
41 cervix cancer 58 31 occasional (7.5%) Occasional (29-5%) HP:0030079
42 epispadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000039
43 nail dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002164
44 tachycardia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001649
45 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
46 streak ovary 58 31 occasional (7.5%) Occasional (29-5%) HP:0010464
47 developmental glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001087
48 short metatarsal 58 31 occasional (7.5%) Occasional (29-5%) HP:0010743
49 decreased serum testosterone level 58 31 occasional (7.5%) Occasional (29-5%) HP:0040171
50 chordee 58 31 occasional (7.5%) Occasional (29-5%) HP:0000041

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

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

40
Kidney, Ovary, Cervix, 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. 61
31139765 2019
2
Gonadal malignancy in 202 female patients with disorders of sex development containing Y-chromosome material. 61
26608236 2016
3
[The diagnosis, treatment and following up of 7 patients with 45, X/46, XY mixed gonadal dysgenesis]. 61
26759215 2015
4
45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction. 61
24554973 2014
5
Atypical presentation and management dilemma of mixed gonadal dysgenesis. 61
20637459 2011
6
Gender dysphoria and gender change in an adolescent with 45,X/46,XY mixed gonadal dysgenesis. 61
19085701 2009
7
Disorders of gonadal development: a broad clinical, cytogenetic and histopathologic spectrum. 61
17551482 2007
8
Fragile X and mosaic 45,X/46,XY mixed gonadal dysgenesis in a girl with ambiguous genitalia. 61
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 10.32 SRY NR0B1

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

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.89 WNT4 SRY NR0B1 DMRT1 AMH
2 male gonad development GO:0008584 9.61 WNT4 NR0B1 DMRT1
3 adrenal gland development GO:0030325 9.51 WNT4 NR0B1
4 oocyte development GO:0048599 9.48 WNT4 DMRT1
5 gonad development GO:0008406 9.46 NR0B1 AMH
6 Leydig cell differentiation GO:0033327 9.4 NR0B1 DHH
7 positive regulation of male gonad development GO:2000020 9.37 SRY DMRT1
8 sex determination GO:0007530 9.32 NR0B1 AMH
9 Sertoli cell differentiation GO:0060008 9.26 NR0B1 DMRT1
10 sex differentiation GO:0007548 9.26 WNT4 SRY DMRT1 AMH
11 negative regulation of steroid biosynthetic process GO:0010894 9.16 WNT4 NR0B1
12 male sex determination GO:0030238 8.92 SRY NR0B1 DMRT1 DHH

Sources for 45,x/46,xy 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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