MCID: 46X020
MIFTS: 30

46xy Sex Reversal 3 malady

Reproductive, Endocrine, Fetal categories

Summaries for 46xy Sex Reversal 3

Sources:
47OMIM, 33MalaCards
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MalaCards: 46xy Sex Reversal 3, also known as 46,xy partial testicular dysgenesis, is related to swyer syndrome and denys-drash syndrome, and has symptoms including cortico-adrenal hypoplasia/insufficiency, micropenis/small penis/agenesis and hypospadias/epispadias/bent penis. An important gene associated with 46xy Sex Reversal 3 is NR5A1 (nuclear receptor subfamily 5, group A, member 1), and among its related pathways are Nuclear Receptor transcription pathway and Regulation of Androgen receptor activity. The compounds dmrt and progesterone have been mentioned in the context of this disorder. Related mouse phenotypes are tumorigenesis and mortality/aging.

Description from OMIM:47 612965,154230,613762,615542,300018

Aliases & Classifications for 46xy Sex Reversal 3

Sources:
47OMIM, 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
46,xy partial testicular dysgenesis:
Inheritance: Sporadic; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

46xy sex reversal 3 47
46,xy partial testicular dysgenesis 49
46,xy partial gonadal dysgenesis 49
46,xy pgd 49


External Ids:

ICD10 via Orphanet26 Q56.1

Related Diseases for 46xy Sex Reversal 3

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to 46xy Sex Reversal 3:



Diseases related to 46xy sex reversal 3

Clinical Features for 46xy Sex Reversal 3

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

612965,154230,613762,615542,300018

Symptoms:

49 (show all 9)
  • cortico-adrenal hypoplasia/insufficiency
  • micropenis/small penis/agenesis
  • hypospadias/epispadias/bent penis
  • female pseudohermaphrodism/virilisation/clitoridomegaly
  • ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • ambiguous genitalia
  • testicular/seminal neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • testis anomalies
  • mixed gonadal dysgenesis

Drugs & Therapeutics for 46xy Sex Reversal 3

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 46xy Sex Reversal 3

Anatomical Context for 46xy Sex Reversal 3

Animal Models for 46xy Sex Reversal 3 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to 46xy Sex Reversal 3:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.1SF1, WWOX, NR0B1, MAP3K1
2MP:00107687.4SRY, MAP3K1, NR5A1, GATA4, WWOX, SF1
3MP:00053797.3SRY, NR0B1, NR5A1, GATA4, WWOX, SF1
4MP:00053897.3SF1, WWOX, GATA4, NR5A1, NR0B1, SRY
5MP:00053767.1SF1, WWOX, GATA4, NR5A1, NR0B1, MAP3K1

Publications for 46xy Sex Reversal 3

Genetic Variations for 46xy Sex Reversal 3

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for 46xy Sex Reversal 3:

63
id Symbol AA change Variation SNP ID
1NR5A1p.Gly35GluVAR_004737
2NR5A1p.Arg92GlnVAR_016982
3NR5A1p.Cys33SerVAR_039106
4NR5A1p.Arg84HisVAR_039107
5NR5A1p.Val15MetVAR_063255
6NR5A1p.Met78IleVAR_063256
7NR5A1p.Gly91SerVAR_063257
8NR5A1p.Leu437GlnVAR_063258

Expression for genes affiliated with 46xy Sex Reversal 3

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with 46xy Sex Reversal 3

Search GEO for disease gene expression data for 46xy Sex Reversal 3.

Pathways for genes affiliated with 46xy Sex Reversal 3

Sources:
54Reactome, 38NCBI BioSystems Database, 12EMD Millipore
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Pathways related to 46xy Sex Reversal 3 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.5NR0B1, NR5A1
29.4SRY, NR0B1
39.3NR5A1, GATA4

Compounds for genes affiliated with 46xy Sex Reversal 3

Sources:
45Novoseek, 60Tocris Bioscience, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB
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Compounds related to 46xy Sex Reversal 3 according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1dmrt459.3SRY, NR0B1, NR5A1
2progesterone45 60 29 11 2412.7NR0B1, NR5A1, GATA4
3leucine458.6SRY, MAP3K1, NR0B1, NR5A1
4forskolin45 50 1110.5MAP3K1, NR5A1, GATA4
5gnrh458.3MAP3K1, NR0B1, NR5A1, GATA4
6cyclic amp45 249.1GATA4, NR5A1, NR0B1, MAP3K1
7zinc45 248.9SRY, NR0B1, NR5A1, GATA4, SF1
8testosterone45 60 11 2410.9GATA4, NR5A1, NR0B1, MAP3K1, SRY
9steroid457.9WWOX, GATA4, NR5A1, NR0B1, SRY
10serine457.8SF1, GATA4, NR5A1, MAP3K1, SRY
11estrogen457.7WWOX, GATA4, NR5A1, NR0B1, MAP3K1

GO Terms for genes affiliated with 46xy Sex Reversal 3

Sources:
16Gene Ontology
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Cellular components related to 46xy Sex Reversal 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056347.3SRY, NR0B1, NR5A1, GATA4, WWOX, SF1

Biological processes related to 46xy Sex Reversal 3 according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of male gonad developmentGO:20000209.8NR5A1, SRY
2regulation of steroid biosynthetic processGO:0508109.8SF1, NR5A1
3intracellular receptor signaling pathwayGO:0305229.5NR0B1, NR5A1
4Leydig cell differentiationGO:0333279.3SF1, NR0B1
5adrenal gland developmentGO:0303259.2NR0B1, NR5A1
6male sex determinationGO:0302389.2SRY, NR0B1, SF1
7Sertoli cell differentiationGO:0600089.0NR0B1, GATA4
8male gonad developmentGO:0085848.4SRY, NR0B1, NR5A1, GATA4

Molecular functions related to 46xy Sex Reversal 3 according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:0048799.5NR5A1, NR0B1
2steroid hormone receptor activityGO:0037079.5NR0B1, NR5A1
3RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.0SRY, NR5A1, GATA4
4transcription factor bindingGO:0081348.7SRY, NR0B1, GATA4
5sequence-specific DNA bindingGO:0435658.4NR0B1, NR5A1, GATA4
6zinc ion bindingGO:0082708.2SF1, GATA4, NR5A1, MAP3K1
7DNA bindingGO:0036778.2SRY, NR0B1, NR5A1, GATA4

Products for genes affiliated with 46xy Sex Reversal 3

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  • Proteins
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  • Antibodies

Sources for 46xy Sex Reversal 3

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