MCID: 45X001
MIFTS: 19

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 (show all 61)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 azoospermia54 Frequent (79-30%)
2 cryptorchidism54 Very frequent (99-80%)
3 ambiguous genitalia, male54 Frequent (79-30%)
4 epispadias54 Occasional (29-5%)
5 chordee54 Occasional (29-5%)
6 abnormality of the scrotum54 Occasional (29-5%)
7 hypospadias54 Frequent (79-30%)
8 bifid scrotum54 Occasional (29-5%)
9 micropenis54 Frequent (79-30%)
10 ambiguous genitalia, female54 Frequent (79-30%)
11 ambiguous genitalia54 Frequent (79-30%)
12 abnormality of the kidney54 Occasional (29-5%)
13 horseshoe kidney54 Occasional (29-5%)
14 gonadoblastoma54 Occasional (29-5%)
15 high palate54 Occasional (29-5%)
16 epicanthus54 Occasional (29-5%)
17 micrognathia54 Occasional (29-5%)
18 hearing impairment54 Occasional (29-5%)
19 low-set, posteriorly rotated ears54 Occasional (29-5%)
20 recurrent otitis media54 Occasional (29-5%)
21 webbed neck54 Occasional (29-5%)
22 visual impairment54 Occasional (29-5%)
23 nystagmus54 Occasional (29-5%)
24 autistic behavior54 Occasional (29-5%)
25 pectus excavatum54 Occasional (29-5%)
26 gynecomastia54 Occasional (29-5%)
27 wide intermamillary distance54 Occasional (29-5%)
28 penoscrotal hypospadias54 Frequent (79-30%)
29 abnormal internal genitalia54 Frequent (79-30%)
30 hypothyroidism54 Occasional (29-5%)
31 delayed puberty54 Occasional (29-5%)
32 gonadotropin excess54 Frequent (79-30%)
33 delayed skeletal maturation54 Occasional (29-5%)
34 congenital glaucoma54 Occasional (29-5%)
35 intellectual disability, mild54 Occasional (29-5%)
36 short stature54 Very frequent (99-80%)
37 obesity54 Occasional (29-5%)
38 bicuspid aortic valve54 Occasional (29-5%)
39 tachycardia54 Occasional (29-5%)
40 prolonged qt interval54 Occasional (29-5%)
41 coarctation of aorta54 Occasional (29-5%)
42 hallux valgus54 Occasional (29-5%)
43 low posterior hairline54 Occasional (29-5%)
44 nail dysplasia54 Occasional (29-5%)
45 dyscalculia54 Occasional (29-5%)
46 malformation of the heart and great vessels54 Occasional (29-5%)
47 scoliosis54 Occasional (29-5%)
48 cubitus valgus54 Occasional (29-5%)
49 short metatarsal54 Occasional (29-5%)
50 male infertility54 Frequent (79-30%)
51 short 4th metacarpal54 Occasional (29-5%)
52 bilateral cryptorchidism54 Frequent (79-30%)
53 muscle hypertrophy of the lower extremities54 Very frequent (99-80%)
54 streak ovary54 Occasional (29-5%)
55 cervix cancer54 Occasional (29-5%)
56 unilateral cryptorchidism54 Very frequent (99-80%)
57 ovotestis54 Occasional (29-5%)
58 ovarian serous cystadenoma54 Occasional (29-5%)
59 abnormality of cardiovascular system morphology54 Occasional (29-5%)
60 decreased serum testosterone level54 Occasional (29-5%)
61 urogenital sinus anomaly54 Frequent (79-30%)

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