MCID: 45X001
MIFTS: 25

45,x/46,xy Mixed Gonadal Dysgenesis

Categories: Endocrine diseases, Rare diseases, Reproductive diseases, Fetal 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 55
45,x0/46,xy Mixed Gonadal Dysgenesis 55
45,x0/46,xy Mgd 55
45,x/46,xy Mgd 55

Characteristics:

Orphanet epidemiological data:

55
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, and has symptoms including azoospermia, ambiguous genitalia, male and epispadias. 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.

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:

55 31 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 azoospermia 55 31 frequent (33%) Frequent (79-30%) HP:0000027
2 ambiguous genitalia, male 55 31 frequent (33%) Frequent (79-30%) HP:0000033
3 epispadias 55 31 occasional (7.5%) Occasional (29-5%) HP:0000039
4 chordee 55 31 occasional (7.5%) Occasional (29-5%) HP:0000041
5 bifid scrotum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000048
6 micropenis 55 31 frequent (33%) Frequent (79-30%) HP:0000054
7 ambiguous genitalia, female 55 31 frequent (33%) Frequent (79-30%) HP:0000061
8 horseshoe kidney 55 31 occasional (7.5%) Occasional (29-5%) HP:0000085
9 gonadoblastoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000150
10 high palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000218
11 epicanthus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000286
12 micrognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000347
13 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
14 low-set, posteriorly rotated ears 55 31 occasional (7.5%) Occasional (29-5%) HP:0000368
15 recurrent otitis media 55 31 occasional (7.5%) Occasional (29-5%) HP:0000403
16 webbed neck 55 31 occasional (7.5%) Occasional (29-5%) HP:0000465
17 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
18 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
19 autistic behavior 55 31 occasional (7.5%) Occasional (29-5%) HP:0000729
20 pectus excavatum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000767
21 gynecomastia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000771
22 wide intermamillary distance 55 31 occasional (7.5%) Occasional (29-5%) HP:0006610
23 penoscrotal hypospadias 55 31 frequent (33%) Frequent (79-30%) HP:0000808
24 hypothyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000821
25 delayed puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000823
26 increased circulating gonadotropin level 55 31 frequent (33%) Frequent (79-30%) HP:0000837
27 delayed skeletal maturation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002750
28 congenital glaucoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0001087
29 intellectual disability, mild 55 31 occasional (7.5%) Occasional (29-5%) HP:0001256
30 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
31 obesity 55 31 occasional (7.5%) Occasional (29-5%) HP:0001513
32 bicuspid aortic valve 55 31 occasional (7.5%) Occasional (29-5%) HP:0001647
33 tachycardia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001649
34 prolonged qt interval 55 31 occasional (7.5%) Occasional (29-5%) HP:0001657
35 coarctation of aorta 55 31 occasional (7.5%) Occasional (29-5%) HP:0001680
36 hallux valgus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001822
37 low posterior hairline 55 31 occasional (7.5%) Occasional (29-5%) HP:0002162
38 nail dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002164
39 dyscalculia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002442
40 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
41 cubitus valgus 55 31 occasional (7.5%) Occasional (29-5%) HP:0002967
42 short metatarsal 55 31 occasional (7.5%) Occasional (29-5%) HP:0010743
43 male infertility 55 31 frequent (33%) Frequent (79-30%) HP:0003251
44 short 4th metacarpal 55 31 occasional (7.5%) Occasional (29-5%) HP:0010044
45 bilateral cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0008689
46 muscle hypertrophy of the lower extremities 55 31 hallmark (90%) Very frequent (99-80%) HP:0008968
47 streak ovary 55 31 occasional (7.5%) Occasional (29-5%) HP:0010464
48 cervix cancer 55 31 occasional (7.5%) Occasional (29-5%) HP:0030079
49 unilateral cryptorchidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0012741
50 ovotestis 55 31 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:

38
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
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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42 MESH via Orphanet
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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