MCID: 46X003
MIFTS: 50

46,xx Testicular Disorder of Sex Development malady

Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories

Aliases & Classifications for 46,xx Testicular Disorder of Sex Development

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 48Orphanet, 22GTR, 61UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for 46,xx Testicular Disorder of Sex Development:

Name: 46,xx Testicular Disorder of Sex Development 19 42 20 21 48 22
46,xx Testicular Dsd 19 42 48
Xx Male Syndrome 19 42 21
46,xx Gonadal Dysgenesis 42 48
De La Chapelle Syndrome 42 48
Xx, Male Syndrome 42 48
Xx Sex Reversal 42 21
Follicular Stimulating Hormone-Resistant Ovaries 48
46, Xx Testicular Disorders of Sex Development 61
 
Hypergonadotropic Ovarian Dysgenesis 48
46,xx Complete Gonadal Dysgenesis 48
46,xx Pure Gonadal Dysgenesis 48
Xx Female Gonadal Dysgenesis 48
46, Xx Gonadal Sex Reversal 42
46,xx Ovarian Dysgenesis 48
46,xx Sex Reversal 21
Fsh-Ro 48
Xx-Gd 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
46,xx gonadal dysgenesis:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult; Age of death: normal life expectancy
46,xx testicular disorder of sex development:
Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Orphanet48 243, 393
MESH via Orphanet34 D023961, D058531
ICD10 via Orphanet26 Q99.1
UMLS via Orphanet62 C0685837, C0949595, C0432475 C2936419, more

Summaries for 46,xx Testicular Disorder of Sex Development

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Genetics Home Reference:21 46,XX testicular disorder of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern normally found in females, have a male appearance. People with this disorder have male external genitalia. They generally have small testes and may also have abnormalities such as undescended testes (cryptorchidism) or the urethra opening on the underside of the penis (hypospadias). A small number of affected people have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Affected children are typically raised as males and have a male gender identity.

MalaCards based summary: 46,xx Testicular Disorder of Sex Development, also known as 46,xx testicular dsd, is related to 46xx sex reversal 1 and ovarian dysgenesis 1, and has symptoms including decreased fertility, polycystic ovaries and primary amenorrhea. An important gene associated with 46,xx Testicular Disorder of Sex Development is BMP15 (bone morphogenetic protein 15), and among its related pathways are Ovarian steroidogenesis and Androgen receptor signaling pathway. The compounds deoxyribonucleic acid and ribonucleic acid have been mentioned in the context of this disorder. Affiliated tissues include ovary, testes and bone, and related mouse phenotypes are growth/size/body and behavior/neurological.

GeneReviews summary for xxms

Related Diseases for 46,xx Testicular Disorder of Sex Development

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Diseases related to 46,xx Testicular Disorder of Sex Development via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
146xx sex reversal 131.3SRY
2ovarian dysgenesis 131.0FSHR
3gonadal dysgenesis30.9SRY, SOX9, NR5A1
4cryptorchidism30.4SRY, NR5A1
5sry-negative 46,xx testicular disorder of sex development10.7
6sry-positive 46,xx testicular disorder of sex development10.7
7dysgerminoma10.6
846,xx gonadal dysgenesis epibulbar dermoid10.6
9lung fibrosis - immunodeficiency - 46,xx gonadal dysgenesis10.6
10palmoplantar keratoderma - xx sex reversal - predisposition to squamous cell carcinoma10.6
11growth hormone deficiency10.4
12frasier syndrome10.4SRY
13metabolic acidosis10.3
14premature ovarian failure 110.3
15serkal syndrome10.3
16palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal10.3
1746 xy gonadal dysgenesis10.3
18keratoderma10.3
1946xy sex reversal 310.2NR5A1
20turner syndrome10.2BMP15, SRY
21swyer syndrome10.2SOX9, SRY
22hermaphroditism10.2
23campomelic dysplasia10.2SRY, SOX9
24premature ovarian failure10.2BMP15, FSHR
25male infertility10.1FSHR, SRY
2646,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.1SRY, NR5A1
27amenorrhea10.1SRY, FSHR, BMP15
28azoospermia10.0SRY, FSHR
29congenital adrenal hyperplasia10.0SRY, NR5A1
30hypospadias10.0NR5A1, SRY
31gonadal disease10.0FSHR, NR5A1
32sex cord-gonadal stromal tumor10.0FSHR, NR5A1
33abrikosov's tumor10.0FSHR, NR5A1
34hypogonadism9.9NR5A1, FSHR
35endometriosis9.9FSHR, NR5A1
36polycystic ovary syndrome9.8FSHR, BMP15, NR5A1
37wilms tumor9.8NR5A1, SRY, SOX9
38pituitary adenoma9.7NR5A1, FSHR
39infertility9.7FSHR, NR5A1, SRY, BMP15

Graphical network of the top 20 diseases related to 46,xx Testicular Disorder of Sex Development:



Diseases related to 46,xx testicular disorder of sex development

Symptoms for 46,xx Testicular Disorder of Sex Development

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Symptoms:

 48 (show all 18)
  • abnormal/polycystic ovaries
  • sterility/hypofertility
  • late puberty/hypogonadism/hypogenitalism
  • primary amenorrhea
  • autosomal dominant inheritance
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • microcephaly
  • hearing loss/hypoacusia/deafness
  • long hand/arachnodactyly
  • lung fibrosis
  • precocious menopause/secondary amenorrhea
  • ataxia/incoordination/trouble of the equilibrium
  • metabolic anomalies
  • autosomal recessive inheritance
  • x-linked recessive inheritance
  • short stature/dwarfism/nanism
  • ambiguous genitalia
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia

HPO human phenotypes related to 46,xx Testicular Disorder of Sex Development:

(show all 17)
id Description Frequency HPO Source Accession
1 decreased fertility hallmark (90%) HP:0000144
2 polycystic ovaries hallmark (90%) HP:0000147
3 primary amenorrhea hallmark (90%) HP:0000786
4 abnormality of the testis hallmark (90%) HP:0000035
5 ambiguous genitalia hallmark (90%) HP:0000062
6 reduced bone mineral density typical (50%) HP:0004349
7 microcephaly occasional (7.5%) HP:0000252
8 hearing impairment occasional (7.5%) HP:0000365
9 secondary amenorrhea occasional (7.5%) HP:0000869
10 arachnodactyly occasional (7.5%) HP:0001166
11 abnormality of metabolism/homeostasis occasional (7.5%) HP:0001939
12 pulmonary fibrosis occasional (7.5%) HP:0002206
13 incoordination occasional (7.5%) HP:0002311
14 short stature occasional (7.5%) HP:0004322
15 autosomal dominant inheritance HP:0000006
16 azoospermia HP:0000027
17 true hermaphroditism HP:0010459

Drugs & Therapeutics for 46,xx Testicular Disorder of Sex Development

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Drug clinical trials:

Search ClinicalTrials for 46,xx Testicular Disorder of Sex Development

Search NIH Clinical Center for 46,xx Testicular Disorder of Sex Development

Genetic Tests for 46,xx Testicular Disorder of Sex Development

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Genetic tests related to 46,xx Testicular Disorder of Sex Development:

id Genetic test Affiliating Genes
1 46,xx Testicular Disorder of Sex Development20 22 SRY

Anatomical Context for 46,xx Testicular Disorder of Sex Development

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MalaCards organs/tissues related to 46,xx Testicular Disorder of Sex Development:

31
Ovary, Testes, Bone, Lung, Testis

Animal Models for 46,xx Testicular Disorder of Sex Development or affiliated genes

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MGI Mouse Phenotypes related to 46,xx Testicular Disorder of Sex Development:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.6NR5A1, ROCK1, FSHR, SOX9, SOX3
2MP:00053867.5SOX3, SOX9, FSHR, ROCK1, NR5A1
3MP:00053847.4SOX3, SOX9, FSHR, PSMC3IP, ROCK1, NR5A1
4MP:00036317.3SOX3, SOX9, FSHR, ROCK1, NR5A1
5MP:00053767.3SOX3, SOX9, FSHR, PSMC3IP, ROCK1, NR5A1
6MP:00107687.1SOX3, SOX9, FSHR, SRY, ROCK1, NR5A1
7MP:00053797.1NR5A1, SOX3, SOX9, FSHR, PSMC3IP, SRY
8MP:00053897.1SOX3, SOX9, FSHR, PSMC3IP, SRY, BMP15

Publications for 46,xx Testicular Disorder of Sex Development

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Articles related to 46,xx Testicular Disorder of Sex Development:

idTitleAuthorsYear
1
A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication. (25077096)
2014
2
Gene expression profile during testicular development in patients With SRY-negative 46,XX testicular disorder of sex development. (24149105)
2013
3
Two males with SRY-positive 46,XX testicular disorder of sex development. (23110663)
2013
4
De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development. (20082466)
2010
5
46,XX Testicular Disorder of Sex Development (20301589)
1993

Variations for 46,xx Testicular Disorder of Sex Development

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Clinvar genetic disease variations for 46,xx Testicular Disorder of Sex Development:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1BMP15NM_005448.2(BMP15): c.704A> G (p.Tyr235Cys)single nucleotide variantPathogenicrs104894765GRCh37Chr X, 50659132: 50659132
2FSHRNM_000145.3(FSHR): c.566C> T (p.Ala189Val)single nucleotide variantPathogenicrs121909658GRCh37Chr 2, 49210264: 49210264
3FSHRNM_000145.3(FSHR): c.479T> C (p.Ile160Thr)single nucleotide variantPathogenicrs121909659GRCh37Chr 2, 49216161: 49216161
4FSHRNM_000145.3(FSHR): c.1717C> T (p.Arg573Cys)single nucleotide variantPathogenicrs121909660GRCh37Chr 2, 49190243: 49190243
5FSHRNM_000145.3(FSHR): c.1255G> A (p.Ala419Thr)single nucleotide variantPathogenicrs121909661GRCh37Chr 2, 49190705: 49190705
6FSHRNM_000145.3(FSHR): c.1555C> A (p.Pro519Thr)single nucleotide variantPathogenicrs121909662GRCh37Chr 2, 49190405: 49190405
7FSHRNM_000145.3(FSHR): c.1760C> A (p.Pro587His)single nucleotide variantLikely pathogenic, Pathogenicrs386833512GRCh37Chr 2, 49190200: 49190200
8SOX9SOX9, 178-KB DUP, UPSTREAM REGULATORY REGIONduplicationPathogenic
9PSMC3IPPSMC3IP, 3-BP DEL, 600GAGdeletionPathogenic
10FSHRNM_000145.3(FSHR): c.1043C> G (p.Pro348Arg)single nucleotide variantLikely pathogenicrs386833510GRCh37Chr 2, 49190917: 49190917
11FSHRNM_000145.3(FSHR): c.1724C> T (p.Ala575Val)single nucleotide variantLikely pathogenicrs386833511GRCh37Chr 2, 49190236: 49190236
12FSHRNM_000145.3(FSHR): c.1801C> G (p.Leu601Val)single nucleotide variantLikely pathogenicrs386833513GRCh37Chr 2, 49190159: 49190159
13FSHRNM_000145.3(FSHR): c.662T> G (p.Val221Gly)single nucleotide variantLikely pathogenicrs386833514GRCh37Chr 2, 49210057: 49210057
14FSHRNM_000145.3(FSHR): c.671A> T (p.Asp224Val)single nucleotide variantLikely pathogenicrs386833515GRCh37Chr 2, 49196020: 49196020

Expression for genes affiliated with 46,xx Testicular Disorder of Sex Development

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Search GEO for disease gene expression data for 46,xx Testicular Disorder of Sex Development.

Pathways for genes affiliated with 46,xx Testicular Disorder of Sex Development

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Pathways related to 46,xx Testicular Disorder of Sex Development according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7BMP15, FSHR
29.6ROCK1, PSMC3IP
39.4NR5A1, FSHR
4
Show member pathways
Wnt Signaling Pathway NetPath36
8.9NR5A1, ROCK1, SOX9
5
Show member pathways
8.3SOX3, SOX9, BMP15, ROCK1

Compounds for genes affiliated with 46,xx Testicular Disorder of Sex Development

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to 46,xx Testicular Disorder of Sex Development according to GeneCards Suite gene sharing:

(show all 12)
idCompoundScoreTop Affiliating Genes
1deoxyribonucleic acid449.7SRY, FSHR
2ribonucleic acid449.2NR5A1, FSHR, SOX9
3dmrt449.1NR5A1, SRY, SOX9
4estradiol44 24 1111.1FSHR, SRY, NR5A1
5progesterone44 28 60 24 1113.0FSHR, BMP15, NR5A1
6cyclic amp44 2410.0NR5A1, FSHR, SOX9
7leucine449.0FSHR, SRY, NR5A1
8zinc44 249.9NR5A1, SRY, SOX9
9testosterone44 60 24 1111.7NR5A1, SRY, FSHR, SOX9
10steroid448.7SOX9, FSHR, SRY, NR5A1
11oligonucleotide448.6NR5A1, SRY, FSHR
12serine448.1SOX9, FSHR, SRY, ROCK1, NR5A1

GO Terms for genes affiliated with 46,xx Testicular Disorder of Sex Development

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Biological processes related to 46,xx Testicular Disorder of Sex Development according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1female gamete generationGO:00072929.6BMP15, FSHR
2regulation of cell adhesionGO:00301559.2ROCK1, SOX9
3positive regulation of transcription, DNA-templatedGO:00458939.2BMP15, SRY, SOX9
4male gonad developmentGO:00085849.0SOX9, FSHR, NR5A1
5positive regulation of male gonad developmentGO:020000209.0NR5A1, SRY, SOX9
6Sertoli cell developmentGO:00600098.9FSHR, SOX9, SOX3

Molecular functions related to 46,xx Testicular Disorder of Sex Development according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037058.6NR5A1, SRY, SOX9
2DNA bindingGO:00036778.1NR5A1, SRY, PSMC3IP, SOX3

Sources for 46,xx Testicular Disorder of Sex Development

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet