MCID: 45X001
MIFTS: 20

45,x/46,xy Mixed Gonadal Dysgenesis malady

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

Aliases & Classifications for 45,x/46,xy Mixed Gonadal Dysgenesis

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Sources:
31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for 45,x/46,xy Mixed Gonadal Dysgenesis:

Name: 45,x/46,xy Mixed Gonadal Dysgenesis 54
45,x0/46,xy Mixed Gonadal Dysgenesis 54
 
45,x0/46,xy Mgd 54
45,x/46,xy Mgd 54

Characteristics:

Orphanet epidemiological data:

54
45,x0/46,xy mixed gonadal dysgenesis:
Inheritance: Not applicable; Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet54 ORPHA1772
ICD10 via Orphanet31 Q98.7

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

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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 Array, Array and Array. 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

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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:

idRelated DiseaseScoreTop Affiliating Genes
1gonadal dysgenesis10.3
2mixed gonadal dysgenesis10.3

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

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

 54 64 (show all 61)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 azoospermia64 54 Frequent (79-30%) HP:0000027
2 cryptorchidism54 Very frequent (99-80%)
3 ambiguous genitalia, male64 54 Frequent (79-30%) HP:0000033
4 epispadias64 54 Occasional (29-5%) HP:0000039
5 chordee64 54 Occasional (29-5%) HP:0000041
6 abnormality of the scrotum54 Occasional (29-5%)
7 hypospadias54 Frequent (79-30%)
8 bifid scrotum64 54 Occasional (29-5%) HP:0000048
9 micropenis64 54 Frequent (79-30%) HP:0000054
10 ambiguous genitalia, female64 54 Frequent (79-30%) HP:0000061
11 ambiguous genitalia54 Frequent (79-30%)
12 abnormality of the kidney54 Occasional (29-5%)
13 horseshoe kidney64 54 Occasional (29-5%) HP:0000085
14 gonadoblastoma64 54 Occasional (29-5%) HP:0000150
15 high palate64 54 Occasional (29-5%) HP:0000218
16 epicanthus64 54 Occasional (29-5%) HP:0000286
17 micrognathia64 54 Occasional (29-5%) HP:0000347
18 hearing impairment64 54 Occasional (29-5%) HP:0000365
19 low-set, posteriorly rotated ears64 54 Occasional (29-5%) HP:0000368
20 recurrent otitis media64 54 Occasional (29-5%) HP:0000403
21 webbed neck64 54 Occasional (29-5%) HP:0000465
22 visual impairment64 54 Occasional (29-5%) HP:0000505
23 nystagmus64 54 Occasional (29-5%) HP:0000639
24 autistic behavior64 54 Occasional (29-5%) HP:0000729
25 pectus excavatum64 54 Occasional (29-5%) HP:0000767
26 gynecomastia64 54 Occasional (29-5%) HP:0000771
27 wide intermamillary distance64 54 Occasional (29-5%) HP:0006610
28 penoscrotal hypospadias64 54 Frequent (79-30%) HP:0000808
29 abnormal internal genitalia54 Frequent (79-30%)
30 hypothyroidism64 54 Occasional (29-5%) HP:0000821
31 delayed puberty64 54 Occasional (29-5%) HP:0000823
32 increased circulating gonadotropin level64 54 Frequent (79-30%) HP:0000837
33 delayed skeletal maturation64 54 Occasional (29-5%) HP:0002750
34 congenital glaucoma64 54 Occasional (29-5%) HP:0001087
35 intellectual disability, mild64 54 Occasional (29-5%) HP:0001256
36 short stature64 54 Very frequent (99-80%) HP:0004322
37 obesity64 54 Occasional (29-5%) HP:0001513
38 bicuspid aortic valve64 54 Occasional (29-5%) HP:0001647
39 tachycardia64 54 Occasional (29-5%) HP:0001649
40 prolonged qt interval64 54 Occasional (29-5%) HP:0001657
41 coarctation of aorta64 54 Occasional (29-5%) HP:0001680
42 hallux valgus64 54 Occasional (29-5%) HP:0001822
43 low posterior hairline64 54 Occasional (29-5%) HP:0002162
44 nail dysplasia64 54 Occasional (29-5%) HP:0002164
45 dyscalculia64 54 Occasional (29-5%) HP:0002442
46 malformation of the heart and great vessels54 Occasional (29-5%)
47 scoliosis64 54 Occasional (29-5%) HP:0002650
48 cubitus valgus64 54 Occasional (29-5%) HP:0002967
49 short metatarsal64 54 Occasional (29-5%) HP:0010743
50 male infertility64 54 Frequent (79-30%) HP:0003251
51 short 4th metacarpal64 54 Occasional (29-5%) HP:0010044
52 bilateral cryptorchidism64 54 Frequent (79-30%) HP:0008689
53 muscle hypertrophy of the lower extremities64 54 Very frequent (99-80%) HP:0008968
54 streak ovary64 54 Occasional (29-5%) HP:0010464
55 cervix cancer64 54 Occasional (29-5%) HP:0030079
56 unilateral cryptorchidism64 54 Very frequent (99-80%) HP:0012741
57 ovotestis64 54 Occasional (29-5%) HP:0012861
58 ovarian serous cystadenoma64 54 Occasional (29-5%) HP:0012887
59 abnormality of cardiovascular system morphology54 Occasional (29-5%)
60 decreased serum testosterone level64 54 Occasional (29-5%) HP:0040171
61 urogenital sinus anomaly64 54 Frequent (79-30%) HP:0100779

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

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Interventional clinical trials:

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

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

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

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

36
Kidney, Cervix, Ovary, Heart

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

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

idTitleAuthorsYear
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

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Expression for genes affiliated with 45,x/46,xy Mixed Gonadal Dysgenesis

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

Pathways for genes affiliated with 45,x/46,xy Mixed Gonadal Dysgenesis

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

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet