MCID: 45X001
MIFTS: 10

45,x/46,xy Mixed Gonadal Dysgenesis malady

Reproductive, Endocrine, Fetal 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 turner syndrome. 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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49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Reproductive, Endocrine


Characteristics (Orphanet epidemiological data):

49
45,x0/46,xy mixed gonadal dysgenesis:
Inheritance: Sporadic; Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

45,x/46,xy mixed gonadal dysgenesis 49
45,x0/46,xy mixed gonadal dysgenesis 49
45,x0/46,xy mgd 49
45,x/46,xy mgd 49


External Ids:

ICD10 via Orphanet26 Q98.7

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

Sources:
17GeneCards, 18GeneDecks
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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
2turner syndrome10.0TSPY1
3luteoma10.0SRY
4swyer syndrome10.0SRY
5male infertility10.0TSPY1
6gonadal dysgenesis10.0SRY
7infertility10.0SRY
8gonadoblastoma10.0SRY, TSPY1
9dysgerminoma10.0TSPY1, SRY
10azoospermia10.0SRY, TSPY1

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



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

Clinical Features for 45,x/46,xy Mixed Gonadal Dysgenesis

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

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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

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

Search CenterWatch 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

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

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28inGenious Targeting Laboratory
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Publications for 45,x/46,xy Mixed Gonadal Dysgenesis

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

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

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1BioGPS, 15Gene 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

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

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

Sources:
16Gene 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:0301549.1TSPY1, SRY

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet