MCID: 46X001
MIFTS: 21

46 Xy Gonadal Dysgenesis malady

Genetic diseases, Rare diseases, Ear diseases categories

Summaries for 46 Xy Gonadal Dysgenesis

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48OMIM, 34MalaCards
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MalaCards: 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.

Description from OMIM:48 233420, 400044, 613080, 154230, 614279 300018, 613762, 612965 more

Aliases & Classifications for 46 Xy Gonadal Dysgenesis

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9Disease Ontology, 63UMLS, 48OMIM, 36MeSH, 59SNOMED-CT
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Classifications:

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


Aliases & Descriptions:

46 xy gonadal dysgenesis 9
pure gonadal dysgenesis 46,xy 9
gonadal dysgenesis, 46,xy 63
46,xy sex reversal 9


External Ids:

Disease Ontology9 DOID:14448
SNOMED-CT59 95218005
MeSH36 D006061

Related Diseases for 46 Xy Gonadal Dysgenesis

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18GeneCards, 19GeneDecks
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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 11)
idRelated DiseaseScoreTop Affiliating Genes
1gonadal dysgenesis10.8
2congenital adrenal insufficiency10.5
3gonadoblastoma10.4
4amenorrhea10.4
5wilms tumor10.4
6swyer syndrome10.4
7nephrocalcinosis10.2
8campomelic dysplasia10.2
9congenital diaphragmatic hernia10.2
1046xy sex reversal 110.2
11dysgerminoma10.2

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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48OMIM
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Clinical features from OMIM:

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

Drugs & Therapeutics for 46 Xy 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 46 Xy Gonadal Dysgenesis

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Anatomical Context for 46 Xy Gonadal Dysgenesis

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34MalaCards
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MalaCards organs/tissues related to 46 Xy Gonadal Dysgenesis:

34
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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53PubMed
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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
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
5
Development of germ cell tumour in 46 XY gonadal dysgenesis: a report of two cases. (6315847)
1983
6
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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16Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for 46 Xy 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