MCID: 46X001
MIFTS: 29

46 Xy Gonadal Dysgenesis malady

Summaries for 46 Xy Gonadal Dysgenesis

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47OMIM, 33MalaCards
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MalaCards: 46 Xy Gonadal Dysgenesis, also known as pure gonadal dysgenesis 46,xy, is related to 46,xy disorder of sex development and 46,xy complete gonadal dysgenesis and gonadoblastoma. An important gene associated with 46 Xy Gonadal Dysgenesis is SRY (sex determining region Y), and among its related pathways are Regulation of Androgen receptor activity and Transcription factors in neurogenesis. The compounds clomiphene citrate and androstenedione have been mentioned in the context of this disorder. Related mouse phenotypes are reproductive system and endocrine/exocrine gland.

Description from OMIM:47 233420, 614279, 300018, 612965, 613762 400044, 613080, 154230 more

Aliases & Classifications for 46 Xy Gonadal Dysgenesis

Sources:
8Disease Ontology, 61UMLS, 47OMIM, 35MeSH, 57SNOMED-CT
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Aliases & Descriptions:

46 xy gonadal dysgenesis 8
pure gonadal dysgenesis 46,xy 8
gonadal dysgenesis, 46,xy 61
46,xy sex reversal 8


External Ids:

Disease Ontology8 DOID:14448
SNOMED-CT57 95218005
MeSH35 D006061

Related Diseases for 46 Xy Gonadal Dysgenesis

Sources:
17GeneCards, 18GeneDecks
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Diseases in the gonadal dysgenesis family:

46 xx gonadal dysgenesis 46 xy gonadal dysgenesis
gonadal dysgenesis, xx type

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

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
146,xy disorder of sex development and 46,xy complete gonadal dysgenesis30.7SRY, NR0B1, NR5A1
2gonadoblastoma30.6SRY
3amenorrhea30.6SRY, SHBG
4wilms tumor30.6SRY, NR0B1, NR5A1
5dysgerminoma30.3SRY
6congenital adrenal insufficiency10.4
7frasier syndrome10.4
8swyer syndrome10.4
9mixed gonadal dysgenesis10.3
10sry-related 46,xy dsd and 46,xy cgd10.3
1146xy sex reversal 610.3
1246xy sex reversal 310.3
1346xx sex reversal 310.3
14campomelic dysplasia10.2
15nephrocalcinosis10.2
16congenital diaphragmatic hernia10.2
1746xy sex reversal 110.2
18pseudohermaphroditism10.0SRY
19hermaphroditism10.0SRY
20growth hormone deficiency10.0SOX3
21hyperandrogenism10.0SHBG
22adrenal rest tumor10.0NR5A1
23denys-drash syndrome10.0NR5A1
24androgen insensitivity syndrome10.0SRY, SHBG
25gynecomastia10.0SHBG, SRY
26hypopituitarism10.0SOX3, SHBG
27precocious puberty10.0SHBG, NR0B1
28male infertility10.0SHBG, SRY
29leydig cell tumor10.0NR0B1, NR5A1
30hypospadias10.0NR5A1, SRY
31pituitary adenoma10.0NR0B1, NR5A1
32addison's disease10.0NR5A1, NR0B1
33x-linked adrenal hypoplasia congenita10.0NR0B1, NR5A1
34essential hypertension10.0SHBG
35prolactinoma10.0CGB, NR5A1
36choriocarcinoma10.0NR5A1, CGB
37azoospermia10.0SHBG, NR0B1, SRY
38short stature10.0SRY, NR0B1, SHBG
39adrenocortical carcinoma10.0NR0B1, NR5A1
40turner syndrome10.0SRY, SHBG, CGB
41hyperprolactinemia10.0CGB, SHBG
42adrenal adenoma10.0NR0B1, NR5A1
43bladder carcinoma10.0NR5A1, CGB
44gonadal dysgenesis10.0SRY, NR0B1, NR5A1
45congenital adrenal hyperplasia10.0NR5A1, NR0B1, SRY
46mental retardation10.0NR0B1, SHBG, SOX3
47pre-eclampsia10.0SRY, SHBG, CGB
48kallmann syndrome10.0NR0B1, NR5A1
49adrenoleukodystrophy10.0NR0B1, NR5A1
50cryptorchidism10.0SHBG, NR5A1, SRY

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



Diseases related to 46 xy gonadal dysgenesis

Clinical Features for 46 Xy Gonadal Dysgenesis

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47OMIM
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Clinical features from OMIM:

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

Drugs & Therapeutics for 46 Xy Gonadal Dysgenesis

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

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Drug clinical trials:

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Genetic Tests for 46 Xy Gonadal Dysgenesis

Anatomical Context for 46 Xy Gonadal Dysgenesis

Animal Models for 46 Xy Gonadal Dysgenesis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to 46 Xy Gonadal Dysgenesis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.1NR5A1, NR0B1, CBX2, SRY, SOX3
2MP:00053797.8SRY, CBX2, NR0B1, NR5A1, SOX3

Publications for 46 Xy Gonadal Dysgenesis

Genetic Variations for 46 Xy Gonadal Dysgenesis

Expression for genes affiliated with 46 Xy Gonadal Dysgenesis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with 46 Xy Gonadal Dysgenesis

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

Pathways for genes affiliated with 46 Xy Gonadal Dysgenesis

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 54Reactome
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Pathways related to 46 Xy Gonadal Dysgenesis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7SRY, NR0B1
29.3NR5A1, SOX3
3
Hide members
9.2NR0B1, NR5A1

Compounds for genes affiliated with 46 Xy Gonadal Dysgenesis

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank, 60Tocris Bioscience
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Compounds related to 46 Xy Gonadal Dysgenesis according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1clomiphene citrate459.5SHBG, CGB
2androstenedione45 2410.3SHBG, CGB
3atrazine459.3NR5A1, SHBG
4dmrt459.2SRY, NR0B1, NR5A1
5diethylstilbestrol45 29 1111.1NR5A1, SHBG
6dehydroepiandrosterone sulfate459.0NR5A1, SHBG
7dhea458.9SHBG, NR5A1
8acth458.8NR0B1, NR5A1, SHBG
9alanine458.8SOX3, CGB, SHBG, SRY
10leucine458.6SRY, NR0B1, NR5A1
11steroid458.5SHBG, NR5A1, NR0B1, SRY
12estradiol45 11 2410.4CGB, SHBG, NR5A1, SRY
13gnrh458.4NR0B1, NR5A1, SHBG, CGB
14progesterone45 60 29 11 2412.3CGB, SHBG, NR5A1, NR0B1
15estrogen458.2CGB, SHBG, NR5A1, NR0B1
16testosterone45 60 11 2411.0CGB, SHBG, NR5A1, NR0B1, SRY

GO Terms for genes affiliated with 46 Xy Gonadal Dysgenesis

Sources:
16Gene Ontology
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Biological processes related to 46 Xy Gonadal Dysgenesis according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1male sex determinationGO:0302389.8NR0B1, SRY
2hypothalamus developmentGO:0218549.8NR0B1, SOX3
3pituitary gland developmentGO:0219839.6NR0B1, SOX3
4positive regulation of male gonad developmentGO:20000209.5SRY, NR5A1
5adrenal gland developmentGO:0303259.2NR5A1, NR0B1
6male gonad developmentGO:0085849.1SRY, NR0B1, NR5A1
7intracellular receptor signaling pathwayGO:0305228.9NR0B1, NR5A1
8cell differentiationGO:0301548.9SRY, CBX2, NR5A1

Molecular functions related to 46 Xy Gonadal Dysgenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.3SRY, NR5A1
2ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:0048799.1NR5A1, NR0B1
3steroid hormone receptor activityGO:0037078.9NR0B1, NR5A1
4DNA bindingGO:0036778.1SRY, CBX2, NR0B1, NR5A1, SOX3

Products for genes affiliated with 46 Xy Gonadal Dysgenesis

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Sources for 46 Xy 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