MCID: 45X001
MIFTS: 19

45,x/46,xy Mixed Gonadal Dysgenesis malady

Genetic diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Rare diseases categories

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

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MalaCards: 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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50Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
45,x0/46,xy mixed gonadal dysgenesis:
Inheritance: Sporadic; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

45,x/46,xy mixed gonadal dysgenesis 50
45,x0/46,xy mixed gonadal dysgenesis 50
45,x0/46,xy mgd 50
45,x/46,xy mgd 50


External Ids:

ICD10 via Orphanet27 Q98.7

Related Diseases for 45,x/46,xy Mixed Gonadal Dysgenesis

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18GeneCards, 19GeneDecks
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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 dysgenesis10.6
2gonadal dysgenesis10.6
3turner syndrome10.1TSPY1
4swyer syndrome10.0SRY
5dysgerminoma10.0TSPY1, SRY
6gonadoblastoma10.0SRY, TSPY1
7prostate cancer10.0SRY, TSPY1
8male infertility10.0TSPY1, SRY
9azoospermia9.9TSPY1, SRY

Graphical network of diseases related to 45,x/46,xy Mixed Gonadal Dysgenesis:



Diseases related to 45,x/46,xy mixed gonadal dysgenesis

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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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53PubMed
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Articles related to 45,x/46,xy Mixed Gonadal Dysgenesis:

idTitleAuthorsYear
1
Gender dysphoria and gender change in an adolescent with 45,X/46,XY mixed gonadal dysgenesis. (19085701)
2009
2
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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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17Gene Ontology
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Biological processes related to 45,x/46,xy Mixed Gonadal Dysgenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell differentiationGO:0301549.1SRY, TSPY1
2sex differentiationGO:0075488.8SRY, TSPY1

Products 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet