MCID: 46X001
MIFTS: 20

46 Xy Gonadal Dysgenesis malady

Genetic diseases, Rare diseases, Ear diseases categories
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Summaries for 46 Xy Gonadal Dysgenesis

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MalaCards based summary: 46 Xy Gonadal Dysgenesis, also known as pure gonadal dysgenesis 46,xy, is related to gonadal dysgenesis and congenital adrenal insufficiency. Affiliated tissues include testis.

Descriptions from OMIM:46 300018, 233420, 154230, 612965, 613080 613762, 400044, 614279 more

Aliases & Classifications for 46 Xy Gonadal Dysgenesis

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46 Xy Gonadal Dysgenesis, Aliases & Descriptions:

Name: 46 Xy Gonadal Dysgenesis 8
Pure Gonadal Dysgenesis 46,xy 8
 
Gonadal Dysgenesis, 46,xy 62
46,xy Sex Reversal 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Ear diseases


External Ids:

Disease Ontology8 DOID:14448
SNOMED-CT57 95218005
MeSH34 D006061

Related Diseases for 46 Xy Gonadal Dysgenesis

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Diseases in the Gonadal Dysgenesis family:

46 xy gonadal dysgenesis 46 Xx Gonadal Dysgenesis
Gonadal Dysgenesis, Xx Type

Diseases related to 46 Xy Gonadal Dysgenesis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1gonadal dysgenesis10.9
2congenital adrenal insufficiency10.5
3frasier syndrome10.4
4wilms tumor10.4
5amenorrhea10.4
6gonadoblastoma10.4
7campomelic dysplasia10.4
8swyer syndrome10.4
946,xy sex reversal 910.4
10nephrocalcinosis10.2
11congenital diaphragmatic hernia10.2
1246xy sex reversal 110.2
13dysgerminoma10.2

Graphical network of diseases related to 46 Xy Gonadal Dysgenesis:



Diseases related to 46 xy gonadal dysgenesis

Symptoms for 46 Xy Gonadal Dysgenesis

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Clinical features from OMIM:

300018,233420,154230,612965,613080,613762,400044,614279

Drugs & Therapeutics for 46 Xy Gonadal Dysgenesis

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Drug clinical trials:

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Genetic Tests for 46 Xy Gonadal Dysgenesis

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Anatomical Context for 46 Xy Gonadal Dysgenesis

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MalaCards organs/tissues related to 46 Xy Gonadal Dysgenesis:

32
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
46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism. (22288726)
2012
2
46 XY gonadal dysgenesis in adulthood 'pitfalls of late diagnosis'. (22665403)
2012
3
A novel WT1 gene mutation in a patient with Wilms' tumor and 46, XY gonadal dysgenesis. (21384108)
2011
4
46, XY gonadal dysgenesis and chronic renal failure: first reported case with Frasier syndrome from Turkey. (15658629)
2004
5
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
6
Development of germ cell tumour in 46 XY gonadal dysgenesis: a report of two cases. (6315847)
1983
7
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
  • Proteins
  • Lysates

Sources for 46 Xy 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