MCID: 45X001
MIFTS: 14

45,x/46,xy Mixed Gonadal Dysgenesis malady

Genetic diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Rare diseases categories
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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 mixed gonadal dysgenesis and gonadal dysgenesis. An important gene associated with 45,x/46,xy Mixed Gonadal Dysgenesis is SRY (sex determining region Y).

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

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Sources:
48Orphanet, 26ICD10 via Orphanet
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45,x/46,xy Mixed Gonadal Dysgenesis, Aliases & Descriptions:

Name: 45,x/46,xy Mixed Gonadal Dysgenesis 48
45,x0/46,xy Mixed Gonadal Dysgenesis 48
 
45,x0/46,xy Mgd 48
45,x/46,xy Mgd 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
45,x0/46,xy mixed gonadal dysgenesis:
Inheritance: Sporadic; Age of onset: Variable; Age of death: Normal


External Ids:

ICD10 via Orphanet26 Q98.7

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1mixed gonadal dysgenesis10.7
2gonadal dysgenesis10.7

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

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

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Drug clinical trials:

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

Search 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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Animal Models for 45,x/46,xy Mixed Gonadal Dysgenesis or affiliated genes

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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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Expression patterns in normal tissues for genes affiliated with 45,x/46,xy Mixed Gonadal Dysgenesis

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

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  • Antibodies
  • Proteins
  • Lysates

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet