MCID: 45X001
MIFTS: 25

45,x/46,xy Mixed Gonadal Dysgenesis

Categories: Reproductive diseases, Endocrine diseases, Fetal diseases, Rare 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 59
45,x0/46,xy Mixed Gonadal Dysgenesis 59
45,x0/46,xy Mgd 59
45,x/46,xy Mgd 59

Characteristics:

Orphanet epidemiological data:

59
45,x/46,xy mixed gonadal dysgenesis
Inheritance: Not applicable; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



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

MalaCards based summary : 45,x/46,xy Mixed Gonadal Dysgenesis, also known as 45,x0/46,xy mixed gonadal dysgenesis, is related to gonadal dysgenesis and mixed gonadal dysgenesis. An important gene associated with 45,x/46,xy Mixed Gonadal Dysgenesis is SRY (Sex Determining Region Y). Affiliated tissues include kidney, cervix and ovary, and related phenotypes are azoospermia and ambiguous genitalia, male

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:

# Related Disease Score Top Affiliating Genes
1 gonadal dysgenesis 10.4
2 mixed gonadal dysgenesis 10.4

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

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

59 32 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 azoospermia 59 32 frequent (33%) Frequent (79-30%) HP:0000027
2 ambiguous genitalia, male 59 32 frequent (33%) Frequent (79-30%) HP:0000033
3 epispadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000039
4 chordee 59 32 occasional (7.5%) Occasional (29-5%) HP:0000041
5 bifid scrotum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000048
6 micropenis 59 32 frequent (33%) Frequent (79-30%) HP:0000054
7 ambiguous genitalia, female 59 32 frequent (33%) Frequent (79-30%) HP:0000061
8 horseshoe kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000085
9 gonadoblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000150
10 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
11 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
12 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
13 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
14 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
15 recurrent otitis media 59 32 occasional (7.5%) Occasional (29-5%) HP:0000403
16 webbed neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000465
17 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
18 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
19 autistic behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000729
20 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
21 gynecomastia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000771
22 wide intermamillary distance 59 32 occasional (7.5%) Occasional (29-5%) HP:0006610
23 penoscrotal hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000808
24 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
25 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
26 increased circulating gonadotropin level 59 32 frequent (33%) Frequent (79-30%) HP:0000837
27 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
28 congenital glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001087
29 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
30 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
31 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
32 bicuspid aortic valve 59 32 occasional (7.5%) Occasional (29-5%) HP:0001647
33 tachycardia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001649
34 prolonged qt interval 59 32 occasional (7.5%) Occasional (29-5%) HP:0001657
35 coarctation of aorta 59 32 occasional (7.5%) Occasional (29-5%) HP:0001680
36 hallux valgus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001822
37 low posterior hairline 59 32 occasional (7.5%) Occasional (29-5%) HP:0002162
38 nail dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002164
39 dyscalculia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002442
40 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
41 cubitus valgus 59 32 occasional (7.5%) Occasional (29-5%) HP:0002967
42 short metatarsal 59 32 occasional (7.5%) Occasional (29-5%) HP:0010743
43 male infertility 59 32 frequent (33%) Frequent (79-30%) HP:0003251
44 short 4th metacarpal 59 32 occasional (7.5%) Occasional (29-5%) HP:0010044
45 bilateral cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0008689
46 muscle hypertrophy of the lower extremities 59 32 hallmark (90%) Very frequent (99-80%) HP:0008968
47 streak ovary 59 32 occasional (7.5%) Occasional (29-5%) HP:0010464
48 cervix cancer 59 32 occasional (7.5%) Occasional (29-5%) HP:0030079
49 unilateral cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0012741
50 ovotestis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012861

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:

41
Kidney, Cervix, Ovary, Heart

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

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

# Title Authors Year
1
45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction. ( 24554973 )
2014
2
Gender dysphoria and gender change in an adolescent with 45,X/46,XY mixed gonadal dysgenesis. ( 19085701 )
2009
3
Fragile X and mosaic 45,X/46,XY mixed gonadal dysgenesis in a girl with ambiguous genitalia. ( 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

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

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

3 CDC
7 CNVD
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17 ExPASy
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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