MCID: 46X001
MIFTS: 18

46 Xy Gonadal Dysgenesis malady

Rare diseases category

Summaries for 46 Xy Gonadal Dysgenesis

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Disease Ontology:9 A gonadal dysgenesis that is characterized by a normal 46,xy karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.

MalaCards based summary: 46 Xy Gonadal Dysgenesis, also known as pure gonadal dysgenesis 46,xy, is related to gonadal dysgenesis and 46,xy sex reversal 9. Affiliated tissues include uterus and testis.

Aliases & Classifications for 46 Xy Gonadal Dysgenesis

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46 Xy Gonadal Dysgenesis, Aliases & Descriptions:

Name: 46 Xy Gonadal Dysgenesis 9
Pure Gonadal Dysgenesis 46,xy 9
46,xy Pure Gonadal Dysgenesis 22
 
Gonadal Dysgenesis, 46,xy 60
46,xy Sex Reversal 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


External Ids:

Disease Ontology9 DOID:14448
SNOMED-CT55 95218005
MeSH33 D006061

Related Diseases for 46 Xy Gonadal Dysgenesis

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Graphical network of the top 20 diseases related to 46 Xy Gonadal Dysgenesis:



Diseases related to 46 xy gonadal dysgenesis

Symptoms for 46 Xy Gonadal Dysgenesis

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Drugs & Therapeutics for 46 Xy Gonadal Dysgenesis

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Drug clinical trials:

Search ClinicalTrials for 46 Xy Gonadal Dysgenesis

Search NIH Clinical Center for 46 Xy Gonadal Dysgenesis

Genetic Tests for 46 Xy Gonadal Dysgenesis

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Genetic tests related to 46 Xy Gonadal Dysgenesis:

id Genetic test Affiliating Genes
1 Pure Gonadal Dysgenesis 46,xy22

Anatomical Context for 46 Xy Gonadal Dysgenesis

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MalaCards organs/tissues related to 46 Xy Gonadal Dysgenesis:

31
Uterus, Testis

Animal Models for 46 Xy Gonadal Dysgenesis or affiliated genes

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Publications for 46 Xy Gonadal Dysgenesis

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Articles related to 46 Xy Gonadal Dysgenesis:

idTitleAuthorsYear
1
Swyer syndrome in a woman with pure 46, XY gonadal dysgenesis and a hypoplastic uterus. (25606286)
2013
2
46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism. (22288726)
2012
3
46 XY gonadal dysgenesis in adulthood 'pitfalls of late diagnosis'. (22665403)
2012
4
A novel WT1 gene mutation in a patient with Wilms' tumor and 46, XY gonadal dysgenesis. (21384108)
2011
5
46, XY gonadal dysgenesis and chronic renal failure: first reported case with Frasier syndrome from Turkey. (15658629)
2004
6
Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination. (11153920)
2000
7
Development of germ cell tumour in 46 XY gonadal dysgenesis: a report of two cases. (6315847)
1983
8
46, XY gonadal dysgenesis with secondary amenorrhea, virilization, and bilateral gonadoblastomas. (572994)
1979

Variations for 46 Xy Gonadal Dysgenesis

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Expression for genes affiliated with 46 Xy Gonadal Dysgenesis

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Search GEO for disease gene expression data for 46 Xy Gonadal Dysgenesis.

Pathways for genes affiliated with 46 Xy Gonadal Dysgenesis

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Compounds for genes affiliated with 46 Xy Gonadal Dysgenesis

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GO Terms for genes affiliated with 46 Xy Gonadal Dysgenesis

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Products for genes affiliated with 46 Xy Gonadal Dysgenesis

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  • Antibodies
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Sources for 46 Xy Gonadal Dysgenesis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet