MCID: 46X003
MIFTS: 46

46,xx Testicular Disorder of Sex Development malady

Categories: Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases

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

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Sources:
45NIH Rare Diseases, 22GeneTests, 51Orphanet, 23Genetics Home Reference, 24GTR, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

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

Name: 46,xx Testicular Disorder of Sex Development 45 22 23 51
46,xx Testicular Dsd 45 22 51
Xx Male Syndrome 45 22 23
46, Xx Testicular Disorders of Sex Development 24 65
46,xx Gonadal Dysgenesis 45 51
Xx Sex Reversal 45 23
Follicular Stimulating Hormone-Resistant Ovaries 51
Xx Testicular Disorder of Sex Development 22
Hypergonadotropic Ovarian Dysgenesis 51
46,xx Complete Gonadal Dysgenesis 51
 
46,xx Pure Gonadal Dysgenesis 51
Xx Female Gonadal Dysgenesis 51
46, Xx Gonadal Sex Reversal 45
46,xx Ovarian Dysgenesis 51
De La Chapelle Syndrome 51
46,xx Male Syndrome 22
46,xx Sex Reversal 23
Xx, Male Syndrome 51
Fsh-Ro 51
Xx-Gd 51

Characteristics:

Orphanet epidemiological data:

51
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

Classifications:



External Ids:

Orphanet51 243, 393
UMLS via Orphanet66 C0685837, C0949595, C0432475 C2936419, more
ICD10 via Orphanet28 Q99.1
MESH via Orphanet37 D023961, D058531
UMLS65 C2936419

Summaries for 46,xx Testicular Disorder of Sex Development

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NIH Rare Diseases:45 46,xx testicular disorder of sex development is a condition in which a person with two x chromosomes (which is normally found in females) has a male appearance. more specifically, people with this condition have male external genitalia, ranging from normal to ambiguous. other common signs and symptoms include small testes, gynecomastia, infertility due to azoospermia (lack of sperm), and health problems related to low testosterone. less often, affected people may experience abnormalities such as undescended testes and hypospadias. gender role and gender identity are normally reported as male. this condition may occur if the sry gene (which is usually found on the y chromosome) is misplaced onto the x chromosome. this generally occurs to do an abnormal exchange of genetic material between chromosomes (a translocation). less commonly, the condition may be due to copy number variants or rearrangements in or around the sox9 or sox3 gene. in some affected people, the underlying cause is unknown. in most cases, the condition occurs sporadically in people with no family history of the condition. treatment is based on the signs and symptoms present in each person and generally includes testosterone replacement therapy. last updated: 11/3/2015

MalaCards based summary: 46,xx Testicular Disorder of Sex Development, also known as 46,xx testicular dsd, is related to nonsyndromic 46,xx testicular disorders of sex development and sry-negative 46,xx testicular disorder of sex development, and has symptoms including decreased fertility, polycystic ovaries and primary amenorrhea. An important gene associated with 46,xx Testicular Disorder of Sex Development is SRY (Sex Determining Region Y), and among its related pathways are Ovarian Infertility Genes and Ovarian steroidogenesis. Affiliated tissues include testes, ovary and lung, and related mouse phenotypes are endocrine/exocrine gland and cellular.

Genetics Home Reference:23 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.

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 48)
idRelated DiseaseScoreTop Affiliating Genes
1nonsyndromic 46,xx testicular disorders of sex development12.8
2sry-negative 46,xx testicular disorder of sex development12.8
3sry-positive 46,xx testicular disorder of sex development12.8
4palmoplantar keratoderma-xx sex reversal-predisposition to squamous cell carcinoma syndrome12.7
546,xx gonadal dysgenesis epibulbar dermoid12.6
646,xx ovarian dysgenesis-short stature syndrome12.6
7serkal syndrome11.8
846xx sex reversal 111.8
9ovarian dysgenesis 110.7
10glomerulonephritis10.4
11pre-eclampsia10.4
12eclampsia10.4
13keratitis10.3
14ovarian cancer10.3
15nodular neuronal heterotopia10.3SOX9, SRY
1646 xx gonadal dysgenesis10.2SOX9, SRY
17pseudohermaphroditism10.2SOX9, SRY
18multiple myeloma10.2
19artery disease10.2
20myeloma10.2
21disseminated intravascular coagulation10.2
22anorectal atresia10.2NR5A1, SRY
23actg2-related disorders10.2NR5A1, SRY
24breast-ovarian cancer, familial, 210.2SOX9, SRY
25mixed gonadal dysgenesis10.2SOX3, SRY
26delayed sleep phase syndrome10.2SOX9, SRY
27uremic neuropathy10.1BMP15, SRY
28nephrotic syndrome, type 410.1NR5A1, SRY
29total septate uterus10.1BMP15, PSMC3IP
30spinal and bulbar muscular atrophy of kennedy10.0NR5A1, SRY
31dysmorphism-short stature-deafness-disorder of sex development syndrome10.0NR5A1, SOX9, SRY
32swyer-james syndrome10.0NR5A1, SOX9, SRY
33meacham syndrome10.0NR5A1, SOX9, SRY
34alternating hemiplegia of childhood10.0NR5A1, SOX9, SRY
35hyperbiliverdinemia9.9NR5A1, SOX9, SRY
36chromosome xq27.3-q28 duplication syndrome9.9BMP15, FSHR
37hidradenitis suppurativa9.7FSHR, NR5A1, SRY
38external ear disease9.7BMP15, FSHR
39disease of mental health9.6BMP15, FSHR, SRY
40hyperuricemia9.6FSHR, NR5A1
41movement disease9.6FSHR, SRY
42anorectal stricture9.6BMP15, FSHR
43short qt syndrome9.6BMP15, NR5A1, SOX9, SRY
44leptospirosis9.5BMP15, FSHR, NR5A1
45fabry disease9.5BMP15, FSHR, NR5A1
46urinary schistosomiasis9.3BMP15, FSHR, NR5A1, SRY
4746 xy gonadal dysgenesis8.8BMP15, FSHR, NR5A1, PSMC3IP, SOX9, SRY
4848,xxxy syndrome8.0BMP15, FSHR, NR5A1, NUP107, PSMC3IP, ROCK1

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:

 51 (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 14)
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

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

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Drugs for 46,xx Testicular Disorder of Sex Development (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Epinephrineapproved83451-43-45816
Synonyms:
(-)-(R)-Epinephrine
(-)-3,4-Dihydroxy-a-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-Dihydroxy-alpha-((methylamino)methyl)benzyl alcohol
(-)-3,4-Dihydroxy-alpha-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-dihydroxy-a-[(methylamino)methyl]-Benzyl alcohol
(-)-3,4-dihydroxy-alpha-[(methylamino)methyl]-Benzyl alcohol
(-)-Adrenalin
(-)-Adrenaline
(-)-Epinephrine
(-)-R-Epinephrine
(R)-(-)-Adnephrine
(R)-(-)-Adrenaline
(R)-(-)-Epinephrine
(R)-(-)-Epirenamine
(R)-(−)-adrenaline
(R)-4-[1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
(R)-4-[1-hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
(R)-Adrenaline
(R)-Epinephrine
(−)-adrenaline
02252_FLUKA
1-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
1-Adrenalin
1-Epinephrine
4-(1-Hydroxy-2-(methylamino)ethyl)-1,2-benzenediol
4-(1-hydroxy-2-methylamino-ethyl)benzene-1,2-diol
4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
4-[(1R)-1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diol
51-43-4
51-43-4 (FREE BASE)
51028-73-0
A0173
AC-13188
AC1L1L7B
ADR ADRENALINE
ADROP
AI3-19015
Adnephrine
Adrenaclick
Adrenal
Adrenalin
Adrenalin (TN)
Adrenalin in Oil
Adrenalin-Medihaler
Adrenalina
Adrenalina [DCIT]
Adrenaline
Adrenaline (JP15)
Adrenaline/Epinephrine
Adrenalinum
Adrenamine
Adrenan
Adrenapax
Adrenasol
Adrenatrate
Adrenine
Adrenodis
Adrenohorma
Adrenosan
Adrenutol
Adrin
Adrine
Ana-Guard
Ana-Kit
Antiasthmatique
Asmatane Mist
Asthma meter mist
Asthma-nefrin
Asthmahaler Mist
Asthmanefrin
Astmahalin
Astminhal
Auvi-q
BIDD:GT0119
Balmadren
Bernarenin
Biorenine
Bosmin
Brevirenin
Bronkaid
Bronkaid Mist
Bronkaid Suspension Mist
Bupivacaine Hcl and Epinephrine
C00788
CCRIS 4812
CHEBI:28918
CHEMBL679
CID5816
Chelafrin
Citanest Forte
Corisol
D-Epifrin
D-Epinephrine
D00095
DB00668
Drenamist
Dylephrin
Dyspne-Inhal
E4250_SIGMA
EINECS 200-098-7
EPI E Z PEN JR
EPIPEN E Z PEN
EPIPEN JR
Epi EZ Pen Jr
Epifrin
Epiglaufrin
Epinefrin
Epinefrin [Czech]
Epinefrina
Epinefrina [INN-Spanish]
Epinephran
Epinephrin
Epinephrine
Epinephrine (USP)
Epinephrine (USP/INN)
Epinephrine [USAN:INN:JAN]
Epinephrine bitartrate
Epinephrine chloride
Epinephrine hydrochloride
Epinephrinum
Epinephrinum [INN-Latin]
Epipen
Epipen (TN)
Epipen Auto-Injector
Epipen EZ Pen
Epipen Jr
Epipen Jr.
Epipen Jr. Auto-Injector
Epipen jr
Epirenamine
Epirenan
Epirenin
Epitrate
Eppy
 
Esphygmogenina
Exadrin
Glaucon
Glaucosan
Glauposine
Glycirenan
HSCI1_000215
HSDB 4289
Haemostasin
Haemostatin
Hektalin
Hemisine
Hemostasin
Hemostatin
Hypernephrin
Hyporenin
IOP
Intranefrin
Iontocaine
Isoptoepinal
Kidoline
L-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
L-Adrenaline
L-Adrenaline Base
L-Epinehphrine
L-Epinephrine
L-Epirenamine
L-Methylaminoethanolcatechol
L-epinephrine
LS-156
Levo-Methylaminoethanolcatechol
Levoadrenaline
Levoepinephrine
Levorenen
Levorenin
Levorenine
Levoreninum
Lopac-E-4642
Lyodrin
Lyophrin
Medihaler-Epi
Metanephrin
Methylaminoethanolcatechol
Methylarterenol
Micronefrin
Micronephrine
MolPort-002-051-368
Mucidrina
Myosthenine
Mytrate
NCGC00015417-01
NCGC00142615-01
NCGC00142615-03
NCGC00142615-04
NCGC00142615-05
NCGC00142615-06
NCGC00142615-07
NSC 62786
NSC62786
Nephridine
Nieraline
PDSP1_001120
PDSP2_001104
Paranephrin
Primatene
Primatene Mist
Primatene Mist Refill
Prime Asthma Relief
R-(-)-Epinephrine
R-Adrenaline
RCRA waste no. P042
Racemic Epinephrine
Racepinephrine
Rcra waste number P042
Renagladin
Renaglandin
Renaglandulin
Renaleptine
Renalina
Renoform
Renostypricin
Renostypticin
Renostyptin
SMP1_000227
ST069368
SUS-PHRINE SULFITE-FREE
Scurenaline
Septocaine
Simplene
Sindrenina
Soladren
Sphygmogenin
Stryptirenal
Styptirenal
Supracapsulin
Supradin
Supranefran
Supranephrane
Supranephrine
Supranol
Suprarenaline
Suprarenin
Suprel
Surenine
Surrenine
Sus-Phrine
Sus-phrine
Susphrine
Sympathin I
Takamina
Takamine
Tokamina
Tonogen
Twinject
Twinject 0.15
Twinject 0.3
Twinject 0.30
UNII-YKH834O4BH
Vaponefrin
Vasoconstrictine
Vasoconstrictor
Vasodrine
Vasoton
Vasotonin
adrenaline
bmse000316
d-Adrenaline
epinephrine
l-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
l-Adrenalin
l-Adrenaline
l-Epinephine
l-Epinephrine (synthetic)
l-Epirenamine
l-Methylaminoethanolcatechol
levoepinephrine
nchembio747-comp9
2Racepinephrine834
3Epinephryl borate834
4Androgens1162

Interventional clinical trials:

idNameStatusNCT IDPhase
1Natural History Study of Patients With Excess AndrogenEnrolling by invitationNCT00250159

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 Development22 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:

33
Testes, Ovary, Lung, Bone, Testis, Thyroid

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.4BMP15, FSHR, NR5A1, PSMC3IP, SOX3, SOX9
2MP:00053847.3FSHR, NR5A1, PSMC3IP, ROCK1, SOX3, SOX9
3MP:00053897.0BMP15, FSHR, NR5A1, PSMC3IP, SOX3, SOX9

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
Retrospective case review of pyriform sinus fistulae of third branchial arch origin commonly presenting as acute suppurative thyroiditis in children. (22624855)
2012
2
Complications after ERCP in patients with primary sclerosing cholangitis: let the art and science of endoscopic medicine continue! (18374025)
2008
3
Overexpression of XIAP expression in renal cell carcinoma predicts a worse prognosis. (17332931)
2007
4
Phospholipase D2 stimulates integrin-mediated adhesion via phosphatidylinositol 4-phosphate 5-kinase Igamma b. (15976455)
2005
5
Cacophony of comments stalls multiple chemical sensitivity report. (21657398)
1999
6
The relationship between Parkinson syndrome and vascular siderosis: an electron microprobe study. (617568)
1977

Variations for 46,xx Testicular Disorder of Sex Development

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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 pathwaysScoreTop Affiliating Genes
19.4FSHR, NR5A1
29.3BMP15, FSHR
39.0SOX3, SOX9, SRY
4
Show member pathways
9.0FSHR, ROCK1, SOX9

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:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1male sex determinationGO:003023810.2SOX9, SRY
2male gonad developmentGO:00085849.8FSHR, SOX9
3positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.7FSHR, SOX9
4central nervous system developmentGO:00074179.6SOX3, SOX9
5regulation of cell adhesionGO:00301559.6ROCK1, SOX9
6cell differentiationGO:00301549.5NR5A1, SOX9, SRY
7regulation of MAPK cascadeGO:00434089.5BMP15, FSHR
8positive regulation of transcription, DNA-templatedGO:00458939.0NR5A1, SOX9, SRY

Sources for 46,xx Testicular Disorder of Sex Development

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet