MCID: 46X001
MIFTS: 37

46 Xy Gonadal Dysgenesis malady

Summaries for 46 Xy Gonadal Dysgenesis

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: 46 Xy Gonadal Dysgenesis, also known as pure gonadal dysgenesis 46,xy, is related to gonadal dysgenesis and 46,xy disorder of sex development and 46,xy complete gonadal dysgenesis. 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. Affiliated tissues include testis, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

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

Aliases & Classifications for 46 Xy Gonadal Dysgenesis

About this section
Sources:
8Disease Ontology, 60UMLS, 46OMIM, 34MeSH, 56SNOMED-CT
See all sources

Aliases & Descriptions:

46 xy gonadal dysgenesis 8
pure gonadal dysgenesis 46,xy 8
gonadal dysgenesis, 46,xy 60
46,xy sex reversal 8


External Ids:

Disease Ontology8 DOID:14448
SNOMED-CT56 95218005
MeSH34 D006061

Related Diseases for 46 Xy Gonadal Dysgenesis

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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
1gonadal dysgenesis31.2SRY, NR0B1, NR5A1
246,xy disorder of sex development and 46,xy complete gonadal dysgenesis30.7SRY, NR0B1, NR5A1
3gonadoblastoma30.6SRY
4amenorrhea30.6SRY, SHBG
5congenital adrenal insufficiency10.4
6frasier syndrome10.4
746 xx gonadal dysgenesis10.4
8mixed gonadal dysgenesis10.3
9sry-related 46,xy dsd and 46,xy cgd10.3
1046xy sex reversal 310.3
1146xx sex reversal 310.3
12campomelic dysplasia10.2
13nephrocalcinosis10.2
14congenital diaphragmatic hernia10.2
15swyer syndrome10.2
1646xy sex reversal 110.2
17pseudohermaphroditism10.0SRY
18hermaphroditism10.0SRY
19growth hormone deficiency10.0SOX3
20dysgerminoma10.0SRY
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
44congenital adrenal hyperplasia10.0NR5A1, NR0B1, SRY
45mental retardation10.0NR0B1, SHBG, SOX3
46pre-eclampsia10.0SRY, SHBG, CGB
47kallmann syndrome10.0NR0B1, NR5A1
48adrenoleukodystrophy10.0NR0B1, NR5A1
49cryptorchidism10.0SHBG, NR5A1, SRY
50hypogonadism10.0NR0B1, NR5A1, SHBG

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

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

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

Drugs & Therapeutics for 46 Xy Gonadal Dysgenesis

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for 46 Xy Gonadal Dysgenesis

Drug clinical trials:

Search ClinicalTrials for 46 Xy Gonadal Dysgenesis

Search NIH Clinical Center for 46 Xy Gonadal Dysgenesis

Search CenterWatch for 46 Xy Gonadal Dysgenesis

Genetic Tests for 46 Xy Gonadal Dysgenesis

About this section

Anatomical Context for 46 Xy Gonadal Dysgenesis

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to 46 Xy Gonadal Dysgenesis:

32
Testis

Animal Models for 46 Xy Gonadal Dysgenesis or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to 46 Xy Gonadal Dysgenesis:

36
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

About this section
Sources:
50PubMed
See all sources

Articles related to 46 Xy Gonadal Dysgenesis:

(show all 17)
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
Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (Swyer syndrome): a case report. (21929773)
2011
5
Bilateral gonadoblastomas with unilateral dysgerminoma in a case of 46 XY pure gonadal dysgenesis (Swyer syndrome). (20551568)
2010
6
DNA binding activity studies and computational approach of mutant SRY in patients with 46, XY complete pure gonadal dysgenesis. (19007850)
2009
7
46 XY pure gonadal dysgenesis with gonadoblastoma and dysgerminoma. (19472738)
2008
8
46, XY gonadal dysgenesis and chronic renal failure: first reported case with Frasier syndrome from Turkey. (15658629)
2004
9
Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency. (15472171)
2004
10
Management of 46, XY partial gonadal dysgenesis--revisited. (12422582)
2002
11
46, XY pure gonadal dysgenesis: a case with Graves' disease and exceptionally tall stature. (11518114)
2001
12
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
13
Clinical and DNA studies on 46, XY females with gonadal dysgenesis. A report of six cases. (8728080)
1996
14
Role of gonadal dysgenesis in gonadoblastoma induction in 46, XY individuals. The Leuven experience in 46, XY pure gonadal dysgenesis and testicular feminization syndromes. (1741980)
1991
15
Development of germ cell tumour in 46 XY gonadal dysgenesis: a report of two cases. (6315847)
1983
16
46, XY gonadal dysgenesis with secondary amenorrhea, virilization, and bilateral gonadoblastomas. (572994)
1979
17
Gonadoblastoma associated with pure gonadal dysgenesis. Report of a 10-year-old girl with 46, XY karyotype. (4810703)
1974

Genetic Variations for 46 Xy Gonadal Dysgenesis

About this section

Expression for genes affiliated with 46 Xy Gonadal Dysgenesis

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
37NCBI BioSystems Database, 12EMD Millipore, 53Reactome
See all sources

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

About this section
Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank, 59Tocris Bioscience
See all sources

Compounds related to 46 Xy Gonadal Dysgenesis according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1clomiphene citrate449.5SHBG, CGB
2androstenedione44 2410.3SHBG, CGB
3atrazine449.3NR5A1, SHBG
4dmrt449.2SRY, NR0B1, NR5A1
5diethylstilbestrol44 28 1111.1NR5A1, SHBG
6dehydroepiandrosterone sulfate449.0NR5A1, SHBG
7dhea448.9SHBG, NR5A1
8acth448.8NR0B1, NR5A1, SHBG
9alanine448.8SOX3, CGB, SHBG, SRY
10leucine448.6SRY, NR0B1, NR5A1
11steroid448.5SHBG, NR5A1, NR0B1, SRY
12estradiol44 11 2410.4CGB, SHBG, NR5A1, SRY
13gnrh448.4NR0B1, NR5A1, SHBG, CGB
14progesterone44 59 28 11 2412.3CGB, SHBG, NR5A1, NR0B1
15estrogen448.2CGB, SHBG, NR5A1, NR0B1
16testosterone44 59 11 2411.0CGB, SHBG, NR5A1, NR0B1, SRY

GO Terms for genes affiliated with 46 Xy Gonadal Dysgenesis

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for 46 Xy Gonadal Dysgenesis

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet