MCID: 46X001
MIFTS: 49

46 Xy Gonadal Dysgenesis malady

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

Aliases & Classifications for 46 Xy Gonadal Dysgenesis

About this section
Sources:
11Disease Ontology, 46NIH Rare Diseases, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for 46 Xy Gonadal Dysgenesis:

Name: 46 Xy Gonadal Dysgenesis 11 13
Swyer Syndrome 11 46 24 52 48
Gonadal Dysgenesis, Xy Female Type 46 24 12
Gonadal Dysgenesis, 46,xy 24 37 66
46,xy Complete Gonadal Dysgenesis 24 52
Pure Gonadal Dysgenesis 46,xy 11 24
46,xy Pure Gonadal Dysgenesis 52 25
 
46,xy Sex Reversal 11 24
46,xy Cgd 24 52
46, Xy Complete Gonadal Dysgenesis 46
46, Xy Pure Gonadal Dysgenesis 46
Xy Pure Gonadal Dysgenesis 24
46, Xy Cgd 46

Characteristics:

Orphanet epidemiological data:

52
swyer syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive,Y-linked; Age of onset: Adolescent,Adult; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology11 DOID:14448
MeSH37 D006061
NCIt43 C120198
Orphanet52 ORPHA242
UMLS via Orphanet67 C2936694
ICD10 via Orphanet29 Q99.1

Summaries for 46 Xy Gonadal Dysgenesis

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NIH Rare Diseases:46 Swyer syndrome is a condition in which people with one x chromosome one y chromosome (normally present in males) have a female appearance. people with swyer syndrome are typically raised as females, have a female gender identity, have typical female external genitalia, and have a normal uterus and fallopian tubes. however in place of functional gonads (ovaries or testes), they have undeveloped, residual gonadal tissue called streak gonads. streak gonads often become cancerous, so they are usually surgically removed as early as possible. swyer syndrome may be caused by mutations in any of several genes. the inheritance pattern depends on the responsible gene. in addition to removal of streak gonads, treatment may include hormone replacement therapy from puberty onward. while women with swyer syndrome are infertile, they may become pregnant with the use of donated eggs. last updated: 11/16/2015

MalaCards based summary: 46 Xy Gonadal Dysgenesis, also known as swyer syndrome, is related to 46,xy disorder of sex development and 46,xy complete gonadal dysgenesis and adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete, and has symptoms including abnormality of the testis, male pseudohermaphroditism and polycystic ovaries. An important gene associated with 46 Xy Gonadal Dysgenesis is DHH (Desert Hedgehog), and among its related pathways are Deactivation of the beta-catenin transactivating complex and Metabolism of steroid hormones. Affiliated tissues include ovary, uterus and testes, and related mouse phenotypes are cellular and endocrine/exocrine gland.

Disease Ontology:11 A gonadal dysgenesis that is characterized by a normal 46,xy karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.

Genetics Home Reference:24 Swyer syndrome is a condition that affects sexual development. Sexual development is usually determined by an individual's chromosomes; however, in Swyer syndrome, sexual development does not match the affected individual's chromosomal makeup.

Related Diseases for 46 Xy Gonadal Dysgenesis

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Diseases in the Gonadal Dysgenesis family:

46 xy gonadal dysgenesis 46 Xx Gonadal Dysgenesis

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

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
146,xy disorder of sex development and 46,xy complete gonadal dysgenesis12.6
2adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete11.9
346xy sex reversal 111.8
446xy sex reversal 611.8
546xy sex reversal 911.8
646xy sex reversal 311.8
746xy sex reversal 811.8
846xy sex reversal 711.8
946xy sex reversal 511.8
1046xy sex reversal 2, dosage-sensitive11.8
11congenital adrenal insufficiency11.4
12map3k1-related 46,xy dsd and 46,xy cgd11.4
13sry-related 46,xy dsd and 46,xy cgd11.2
14spermatogenic failure, y-linked, 110.6SOX9, SRY
15gonadal dysgenesis10.6
16farmer's lung10.5DHH, SOX9, SRY
17prostate adenocarcinoma10.3SOX9, SRY
18tetraamelia with pulmonary hypoplasia10.3NR5A1, SRY
19hypospadias 1, x-linked10.3NR5A1, SHBG, SRY
20multiple synostoses syndrome10.3NR5A1, SOX9, SRY
21meacham syndrome10.2NR5A1, SOX9, SRY
22hidradenitis10.2NR0B1, NR5A1, SHBG, SRY
23alternating hemiplegia of childhood10.2NR0B1, NR5A1, SRY
24duchenne muscular dystrophy10.2NR0B1, NR5A1, STAR
25gaucher's disease10.2CYP17A1, SHBG, SRY
26frasier syndrome10.2
27gonadoblastoma10.2
28amenorrhea10.2
2948,xxxy syndrome10.2NR5A1, SOX3, SOX9, SRY
30centrotemporal epilepsy10.1CYP11A1, NR0B1, NR5A1
31mite infestation10.1SRY, STAR
32hyperbiliverdinemia10.1NR0B1, NR5A1, SOX9, SRY
33campomelic dysplasia10.0
34pfeiffer syndrome10.0CYP11A1, NR5A1, STAR
35lateral sclerosis9.9CYP17A1, NR5A1, SHBG
36congenital diaphragmatic hernia9.9
37benign paroxysmal positional nystagmus9.8NR5A1, SHBG, SRY, WNT4
38female reproductive endometrioid cancer9.8CYP17A1, SRY
39vasculogenic impotence9.8CYP11A1, CYP17A1, STAR
40jmp syndrome9.8CYP11A1, CYP17A1, STAR
41benign shuddering attacks9.8CYP11A1, CYP17A1, STAR
42precursor b lymphoblastic lymphoma/leukemia9.8CYP11A1, CYP17A1, SHBG
43first-degree atrioventricular block9.7CYP11A1, CYP17A1, STAR
44drug-induced vasculitis9.7DHH, MAP3K1, NR0B1, NR5A1, SOX9, SRY
45leukorrhea9.6NR0B1, SHBG, SOX9, SRY, WNT4
46dental pulp necrosis9.4CYP11A1, CYP17A1, SHBG, WNT4
47adrenal cortex disease9.3CYP11A1, CYP17A1, NR0B1, NR5A1, STAR
48abca1-related disorders9.0DHH, DMRT1, MAP3K1, NR0B1, NR5A1, SRY
49tooth disease8.7CYP11A1, CYP17A1, FGF10, NR5A1, SOX9, SRY
50mixed gonadal dysgenesis8.5DHH, DMRT1, MAP3K1, NR0B1, NR5A1, SHBG

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



Diseases related to 46 xy gonadal dysgenesis

Symptoms for 46 Xy Gonadal Dysgenesis

About this section

Symptoms:

 52
  • male pseudohermaphroditism
  • hypogonadotrophic hypogonadism
  • polycystic ovaries
  • testicular dysgenesis

HPO human phenotypes related to 46 Xy Gonadal Dysgenesis:

id Description Frequency HPO Source Accession
1 abnormality of the testis hallmark (90%) HP:0000035
2 male pseudohermaphroditism hallmark (90%) HP:0000037
3 polycystic ovaries hallmark (90%) HP:0000147

Drugs & Therapeutics for 46 Xy Gonadal Dysgenesis

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Drugs for 46 Xy Gonadal Dysgenesis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ZincPhase 421547440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
2
MenotropinsPhase 45761489-71-25360545
Synonyms:
61489-71-2
D02692
Human Menopausal Gonadotrophin
Human Menopausal Gonadotrophin (JP15)
 
Humegon
Humegon (TN)
LH)
MENOTROPINS
Menotropins (FSH
Menotropins (USP)
3
LetrozolePhase 2, Phase 3368112809-51-53902
Synonyms:
1-[Bis-(4-cyanophenyl)methyl]-1,2,4-triazole
1-[bis(4-cyanophenyl)methyl]-1,2,4-triazole
112809-51-5
4,4'-((1h-1,2,4-triazol-1-yl)methylene)dibenzonitrile
4,4'-(1H-1,2,4-Triazol-1-ylmethylene)dibenzonitrile
4,4'-(1H-1,2,4-triazol-1-yl-methylene)-bis(benzonitrile)
4,4'-(1H-1,2,4-triazol-1-ylmethanediyl)dibenzonitrile
4,4'-(1H-1,2,4-triazol-1-ylmethylene)bis-Benzonitrile Letrozole
4,4'-(1h-1,2,4-triazol-1-ylmethylene) bis-benzonitrile
4,4'-(1h-1,2,4-triazol-1-ylmethylene)bis-benzonitrile
4,4'-(1h-1,2,4-triazol-1-ylmethylene)bisbenzonitrile
4-[(4-cyanophenyl)-(1,2,4-triazol-1-yl)methyl]benzonitrile
AB00514009
AC-1193
AC1L1GYT
AKOS005145822
BIDD:GT0015
BIDD:PXR0130
BPBio1_001331
BRD-K88789588-001-03-2
BSPBio_001209
Bio-0057
C067431
C08163
C17H11N5
CAS-112809-51-5
CCRIS 8822
CGS 20267
CGS 20267, Femara, Piroxicam, Letrozole
CGS-20267
CHEBI:6413
CHEMBL1444
CID3902
CPD000466343
D00964
 
DB01006
FEM-345
Femara
Femara (TN)
Femera
HMS1571M11
HMS2051E08
HMS2089L22
HSDB 7461
I06-0022
LS-38788
Letoval
Letrozol
Letrozole
Letrozole (JAN/USP/INN)
Letrozole [USAN:INN]
MLS000759455
MLS001424038
MLS002584991
MolPort-003-848-373
NCGC00016973-01
NCGC00016973-02
NSC719345
Novartis Brand of Letrozole
Prestwick0_001025
Prestwick1_001025
Prestwick2_001025
Prestwick3_001025
S1235_Selleck
SAM001246649
SMR000466343
SPBio_003070
TL8000371
UNII-7LKK855W8I
ZINC03778874
letrozole
4phenylalanineNutraceuticalPhase 2, Phase 3155
5Testosterone undecanoatePhase 2524
6
Testosterone enanthatePhase 2524315-37-79416
Synonyms:
17-((1-Oxoheptyl)oxy)androst-4-en-3-one
17-Hydroxyandrost-4-en-3-one, 17-heptanoate
17-Hydroxyandrost-4-en-3-one, 17-heptanoic acid
17beta-Enanthoxyandrost-4-en-3-one
17beta-Hydroxyandrost-4-en-3-one enanthate
4-Androsten-17beta-ol-3-one 17-enanthate
4-Androsten-3-one 17beta-enanthate
Androgyn L.A.
Andropository
Androtardyl
Atlatest
DEA No. 4000
DePatestrye
Delatest
Delatestryl
Depo-Testro Med
Ditate
Durathate
Everone
 
Exten test
Malogen L.A.
Malogen L.A.200
Orquisteron-E
Primotestone
Reposo TMD
Testanthate
Testate
Testenate
Testinon
Testoenant
Testonenant
Testosterone 17-enanthate
Testosterone 17beta-heptanoate
Testosterone 17beta-heptanoic acid
Testosterone enantate
Testosterone heptoate
Testosterone heptoic acid
Testosterone heptylate
Testosterone oenanthate
Testostroval
7
MethyltestosteronePhase 252458-18-46010
Synonyms:
17(alpha)-Methyl-delta(4)-androsten-17(beta)-ol-3-one
17-Methyltestosterone
17-beta-Hydroxy-17-methylandrost-4-en-3-one
17-methyltestosterone
17alpha-Methyl-3-oxo-4-androsten-17beta-ol
17alpha-Methyl-delta(4)-androsten-17beta-ol-3-one
17alpha-Methyltestosterone
17alpha-methyl-delta-androsten-17beta-ol-3-one
17alpha-methyltestosterone
 
17beta-Hydroxy-17-methylandrost-4-en-3-one
17α-methyl-Δ4-androsten-17β-ol-3-one
17α-methyltestosterone
4-Androstene-17alpha-methyl-17beta-ol-3-one
Android
Methyltestosterone
Methyltestosteronum
Metiltestosterona
NSC-9701
Testred
Virilon
8
TestosteronePhase 252458-22-06013
Synonyms:
(+)-testosterone
(+-)-8-iso-testosterone
(+-)-retrotestosterone
(+-)-testosterone
(17b)-17-hydroxy-androst-4-en-3-one
(17beta)-17-Hydroxyandrost-4-en-3-one
(8R,9S,10R,13S,14S,17S)-17-hydroxy-10,13-dimethyl-1,2,6,7,8,9,11,12,14,15,16,17-dodecahydrocyclopenta[a]phenanthren-3-one
13-Iso-testosterone
17-Hydroxy-(17-beta)-androst-4-en-3-one
17-Hydroxy-(17beta)-androst-4-en-3-one
17-Hydroxy-10,13-dimethyl-1,2,6,7,8,9,10,11,12,13,14,15,16,17-tetradecahydro-cyclopenta[a]phenanthren-3-one
17-Hydroxy-D4-androsten-3-one
17-Hydroxy-androst-4-en-3-one
17-beta-Hydroxy-delta(sup 4)-androsten-3-one
17-beta-Hydroxyandrost-4-en-3-one
17?-Hydroxy-4-androsten-3-one
17a-Hydroxy-(13a)-androst-4-en-3-one
17a-Hydroxy-13a-androst-4-en-3-one
17a-Hydroxy-14b-androst-4-en-3-one
17a-Hydroxy-androst-4-en-3-one
17b-Hydroxy-(10a)-androst-4-en-3-one
17b-Hydroxy-(13a)-androst-4-en-3-one
17b-Hydroxy-(8a)-androst-4-en-3-one
17b-Hydroxy-(8a,10a)-androst-4-en-3-one
17b-Hydroxy-(9b)-androst-4-en-3-one
17b-Hydroxy-(9b,10a)-androst-4-en-3-one
17b-Hydroxy-13a-androst-4-en-3-one
17b-Hydroxy-8a-androst-4-en-3-one
17b-Hydroxy-D4-androsten-3-one
17b-Hydroxy-androst-4-en-3-on
17b-Hydroxy-androst-4-en-3-one
17b-Hydroxyandrost-4-en-3-one
17b-Hydroxyandrost-4-ene-3-one
17b-Testosterone
17b-hydroxy-4-androsten-3-one
17beta-Hydroxy-3-oxo-4-androstene
17beta-Hydroxy-4-androsten-3-one
17beta-Hydroxy-delta(sup4)-androsten-3-one
17beta-Hydroxyandrost-4-en-3-one
17beta-Hydroxyandrost-4-ene-3-one
17beta-hydroxy-4-androsten-3-one
4-Androsten-17?-ol-3-one
4-Androsten-17beta-ol-3-one
4-Androsten-3-one-17b-ol
4-androsten-17β-ol-3-one
4-androstene-17beta-ol-3-one
46923_FLUKA
46923_RIEDEL
58-22-0
7-beta-Hydroxyandrost-4-en-3-one
8-Iso-testosterone
9b,10a-Testosterone
9b-Testosterone
AA 2500
AC-14899
AC1L1LM0
Andriol
Andro
Andro 100
Andro L.A. 200
AndroGel
Androderm
Androderm (TN)
Androgel
Androgel (TN)
Android 10
Android 25
Android 5
Androlin
Andronaq
Andronate 100
Andronate 200
Andropatch
Andropository 200
Androsorb
Androst-4-en-17b-ol-3-one
Androst-4-en-17beta-ol-3-one
Androst-4-ene-17b-ol-3-one
Andrusol
Andryl 200
B5DEE83F-632B-48A1-A0ED-A51E7F13DF2E
BIDD:ER0555
BIM-0061761.0001
Beta Testosterone
Bio-0678
Bio-T-Gel
C00535
CCRIS 574
CDB 111C
CHEBI:17347
CHEMBL386630
CID6013
CMC_13449
COL 1621
CP 601B
CPD000058344
Cristerona T
Cristerone T
D00075
D4-Androsten-17b-ol-3-one
DB00624
Dea No. 4000
Delatest
Delatestryl
Depo-Testadiol
Depo-Testosterone
Depo-Testosterone Cypionate
Depotest
EINECS 200-370-5
Epitestosteron
Everone 200
Geno-Cristaux Gremy
Geno-cristaux Gremy
Geno-cristaux gremy
HMS2052N11
HSDB 3398
Halotensin
Homosteron
Homosterone
 
Intrinsa
LMST02020002
LS-148813
LibiGel
Libigel
Lumitestosteron
MLS000563091
MLS001032098
MLS001306401
MLS002174283
Malerone
Malestrone
Malestrone (amps)
Malogen in Oil
Malogen, Aquaspension Injection
Malogen, aquaspension injection
Mertestate
Metandren
Methyltestosterone
MolPort-002-506-901
NCGC00091018-01
NSC 9700
Neo-Hombreol F
Neo-Testis
Neo-testis
Neotestis
Oreton
Oreton F
Oreton Methyl
Oreton-F
Orquisteron
Perandren
Percutacrine Androgenique
Percutacrine androgenique
Primotest
Primoteston
Rac-17b-hydroxy-(13a)androst-4-en-3-one
Rac-17b-hydroxy-(8a)-androst-4-en-3-one
Rac-17b-hydroxy-(9b,10a)androst-4-en-3-one
Rac-17b-hydroxy-androst-4-en-3-one
Relibra
Retrotestosterone
S00309
S2033_Selleck
SAM001246921
SMR000058344
SMR001261453
Scheinpharm Testone-Cyp
Striant
Striant (TN)
Sustanon
Sustanone
Sustason 250
Synandrol F
T-Cypionate
T1500_SIGMA
T5411_FLUKA
T5411_SIGMA
TES
Teslen
Testamone 100
Testandrone
Testaqua
Testiculosterone
Testim
Testim (TN)
Testobase
Testoderm
Testoderm Tts
Testogel
Testoject-50
Testolent
Testolin
Testopel Pellets
Testopropon
Testosteroid
Testosteron
Testosterona
Testosterona [INN-Spanish]
Testosterone
Testosterone (JAN/USP)
Testosterone Cypionate
Testosterone Enanthate
Testosterone Hydrate
Testosterone [Androgenic steroids, anabolic]
Testosterone [INN:BAN]
Testosterone and its esters
Testosterone hydrate
Testosterone solution
Testosteronum
Testosteronum [INN-Latin]
Testostosterone
Testostérone
Testoviron
Testoviron Schering
Testoviron T
Testoxyl
Testred
Testred Cypionate 200
Testrin-P.A
Testro AQ
Testro Aq
Testrone
Testryl
Tostrelle
Tostrex
Trans-Testosterone
UNII-3XMK78S47O
Viatrel
Virilon
Virilon IM
Virormone
Virosterone
ZINC06500184
beta testosterone
delta(sup 4)-Androsten-17(beta)-ol-3-one
delta4-Androsten-17beta-ol-3-one
delta4-androsten-17b-ol-3-one
testosterone
trans-Testosterone
9
Miconazole357322916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
10
Ketoconazole17465277-42-147576, 3823
Synonyms:
(+)-Ketoconazole
(+-)-cis-1-Acetyl-4-(p-((2-(2,4-dichlorophenyl)-2-(imidazol-1-ylmethyl)-1,3-dioxolan-4-yl)methoxy)phenyl)piperazine
(+-)-cis-1-acetyl-4-(p-((2-(2,4-dichlorophenyl)-2-(imidazol-1- ylmethyl)-1,3-dioxolan-4-yl)methoxy)phenyl)piperazine
(+/-)-cis-1-Acetyl-4-(4-[(2-[2,4-dichlorophenyl]-2-[1H-imidazol-1-ylmethyl]-1,3-dioxolan-4-yl)-methoxy]phenyl)piperazine
(+/-)-cis-1-Acetyl-4-[4-[[2-(2,4-dichlorophenyl)-2-(imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]piperazine
1-[4-[4-[[(2R,4S)-2-(2,4-dichlorophenyl)-2-(imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]piperazin-1-yl]ethanone
1-acetyl-4-(4-{[(2R,4S)-2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine
65277-42-1
79156-75-5
AC-15957
AC1L9UG3
BIDD:GT0696
BIM-0050645.0001
BPBio1_000635
BRD-K29113274-001-03-6
BRN 4303081
BSPBio_000577
C26H28Cl2N4O4
CHEBI:48336
CHEMBL75
CID456201
CIS-1-ACETYL-4-(4-((2-(2,4-DICHLOROPHENYL)-2-(1H-IMIDAZOL-1-YLMETHYL)-1,3-DIOXOLAN-4-YL)METHOXY)PHENYL)PIPERAZINE
CPD000058460
EINECS 265-667-4
EU-0100666
Extina
Fungarest
Fungoral
HMS1569M19
HMS2051A19
HMS2089N05
HSDB 7447
K 1003
K0045
K1003_SIGMA
KCZ
KS-1205
KTZ
KW-1414
KZ
Ketoconazol
Ketoconazole
Ketoconazole [USAN:INN:BAN:JAN]
Ketoconazolum
Ketoderm
Ketoisdin
Ketozole
 
LS-110149
Lopac0_000666
MLS000069784
MLS000758224
MLS001146934
MLS002207053
MLS002222255
MolPort-003-848-307
NCGC00025000-01
NCGC00025000-02
NCGC00025000-03
NCGC00025000-04
NCGC00025000-05
NCGC00025000-06
NCGC00025000-07
NCGC00025000-08
NCGC00025000-09
NSC 317629
NSC317629
Nizoral
Nizoral a-D
Nizoral, Extina, Xolegel, Kuric, Ketoconazole
Orifungal M
Panfungol
Piperazine
Prestwick0_000389
Prestwick1_000389
Prestwick2_000389
Prestwick3_000389
Prestwick_744
R 41,400
R 41400
R-41400
R41,400
R41400
S1353_Selleck
SAM001246983
SMR000058460
SPBio_002498
Tocris-1103
UC280_SIGMA
UPCMLD-DP138
UPCMLD-DP138:001
Xolegel
cis-1-Acetyl-4-(4-((2-(2,4-dichlorophenyl)-2-(1H- imidazol-1-ylmethyl)-1,3-dioxolan-4-yl)methoxy)phenyl)-ketoconazol
cis-1-Acetyl-4-[4-[[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]piperazine
dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]-piperazine
ketoconazole
11Estropipate207280-37-7
12
Estrone2053-16-75870
Synonyms:
(+)-Estrone
(13S)-3-hydroxy-13-methyl-7,8,9,11,12,13,15,16-octahydro-6H-cyclopenta[a]phenanthren-17(14H)-one
(8R,9S,13S,14S)-3-hydroxy-13-methyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-17-one
1,3,5(10)-Estratrien-3-ol-17-one
1,3,5(10)-Oestratrien-3-ol-17-one
3-08-00-01171 (Beilstein Handbook Reference)
3-Hydroxy-1,3,5(10)-estratrien-17-one
3-Hydroxy-17-keto-estra-1,3,5-triene
3-Hydroxy-17-keto-oestra-1,3,5-triene
3-Hydroxy-oestra-1,3,5(10)-trien-17-one
3-Hydroxyestra-1,3,5(10)-trien-17-one
3-Hydroxyestra-1,3,5(10)-triene-17-one
3-Hydroxyoestra-1,3,5(10)-trien-17-one
3-hydroxy-estra-1,3,5(10)-trien-17-one
37242-41-4
46573_FLUKA
46573_RIEDEL
53-16-7
86C77018-146D-4603-ACEA-CA0D8C4F1E2C
AB00382990
AC-1395
AC1L1LBE
ACon0_000083
ACon1_000122
Aquacrine
BIDD:ER0145
BPBio1_000868
BRD-K81839095-001-04-6
BRN 1915077
BSPBio_000788
Bio-0668
C00468
CCRIS 285
CHEBI:17263
CHEMBL1405
CID5870
CMC_13458
Crinovaryl
Cristallovar
Crystogen
D00067
D004970
D1,3,5(10)-Estratrien-3-ol-17-one
DB00655
Destrone
Disynformon
E 9750
E(sub 1)
E0026
E1274_SIGMA
E9750_SIGMA
EINECS 200-164-5
EU-0100513
Endofolliculina
Esterone
Estrin
Estrogenic Substance
Estron
Estrona
Estrona [INN-Spanish]
Estrona [Spanish]
Estrone
Estrone (E1)
Estrone (JAN/USP/INN)
Estrone (TN)
Estrone [USAN:INN]
Estrone, (+-)-Isomer
Estrone, (8 alpha)-Isomer
Estrone, (9 beta)-Isomer
Estrone-A
Estronum
Estronum [INN-Latin]
Estrugenone
Estrusol
Fem-O-Gen
Femestrone inj.
Femestrone injection
Femidyn
Fermidyn
Folikrin
Folipex
Folisan
Follestrine
Follestrol
Folliculin
Folliculine
Folliculine benzoate
Follicunodis
 
Glandubolin
HMS1570H10
HMS2090E22
HSDB 3324
Hauck Brand of Estrone
Hiestrone
Hormestrin
Hormofollin
Hormovarine
Hyrex Brand of Estrone
Kestrone
Ketodestrin
Ketohydroxy-Estratriene
Ketohydroxyestrin
Ketohydroxyoestrin
Ketophydroxyestrin
Kolpon
LMST02010004
LS-64884
Lopac0_000513
MEGxm0_000444
MLS000028475
MLS001077340
MLS002695951
Menagen
Menformon
Menformon A
Mestronaq
MolPort-001-742-529
NATURAL ESTROGENIC SUBSTANCE-ESTRONE
NCGC00023643-03
NCGC00023643-04
NCGC00023643-05
NCGC00023643-06
NCGC00023643-10
NCGC00179433-01
NCGC00179433-02
NCGC00179433-03
NSC 9699
OESTRONE
Oestrin
Oestroform
Oestrone
Oestrone [Steroidal oestrogens]
Oestrone, Estrone
Oestronum
Oestroperos
Ovex (tablets)
Ovifollin
Penncap M
Perlatan
Prestwick0_000914
Prestwick1_000914
Prestwick2_000914
Prestwick3_000914
S1665_Selleck
SGCUT00128
SMP1_000123
SMR000058338
SPBio_002977
STK801833
Solliculin
Spectrum5_002047
Theelin
Thelestrin
Thelykinin
Thynestron
Tokokin
UNII-2DI9HA706A
Unden
Unden (pharmaceutical)
Unden (pharmaceutical) (VAN)
Unigen
Vortech Brand of Estrone
Wehgen
Wynestron
WynestronPencap M
[2,4,6,7-3H]-E1
bmse000549
delta-1,3,5-Estratrien-3beta-ol-17-one
delta-1,3,5-Oestratrien-3beta-ol-17-one
delta-1,3,5-estratrien-3-beta-ol-17-one
delta-1,3,5-oestratrien-3-beta-ol-17-one
estrol
estrone
estrovarin
follicular hormone
folliculin
nchembio.76-comp37
to_000049
13Estradiol valerate1250979-32-8
14
Estradiol125050-28-25757, 53477783
Synonyms:
(+)-3,17b-Estradiol
(17b)-Estra-1,3,5(10)-triene-3,17-diol
(17beta)-Estra-1,3,5(10)-triene-3,17-diol
.alpha.-Estradiol
.alpha.-Oestradiol
.beta.-Estradiol
.beta.-Oestradiol
1,3,5[10]-Estratriene-3,17beta-diol 3-sulfate
1,3,5[10]-Estratriene-3,17beta-diol 3-sulphate
13b-Methyl-1,3,5(10)-gonatriene-3,17b-ol
17 beta-Estradiol
17-.BETA.-Estradiol
17-E
17-beta
17-beta-OH-estradiol
17-beta-estradiol
17.beta.-Estradiol
17.beta.-Oestradiol
17E
17b-Estradiol
17b-Oestradiol
17beta Oestradiol
17beta oestradiol
17beta-Estra-1,3,5(10)-triene-3,17-diol
17beta-Estradiol
17beta-Oestradiol
1jgl
1qkt
1qku
2d06
3,17-Epidihydroxyestratriene
3,17-beta-Estradiol
3,17-beta-Oestradiol
3,17.beta.-Estradiol
3,17b-Dihydroxyestra-1,3,5(10)-triene
3,17b-Estradiol
3,17beta-Estradiol
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulfate
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulphate
50-28-2
73459-61-7
873662-39-6
AC-10460
AC1L1L2K
Aerodiol
Agofollin
Alora
Altrad
Amnestrogen
Aquadiol
B-Estradiol
BEDOs
BIDD:ER0125
BIDD:PXR0065
BPBio1_000532
BSPBio_000482
BSPBio_001065
Bardiol
Benzhormovarine
Beta-estradiol
Bio-0812
Bio-E-Gel
Bio1_000403
Bio1_000892
Bio1_001381
Bio2_000363
Bio2_000843
C00951
C18H24O2
CCRIS 280
CHEBI:16469
CHEMBL135
CID5757
CMC_11154
CPD-352
CPD000059126
Climaderm
Climara
Climara (TN)
Climara Forte
Compudose
Compudose 200
Compudose 365
Corpagen
D-3,17beta-Estradiol
D-Estradiol
D-Oestradiol
D00105
DB00783
Dermestril
Destradiol
Dihydro-Theelin
Dihydrofollicular hormone
Dihydrofolliculin
Dihydromenformon
Dihydrotheelin
Dihydroxyesterin
Dihydroxyestrin
Dihydroxyoestrin
Dimenformon
Diogyn
Diogynets
Divigel
Divigel (TN)
E 2
E 8875
E(sub 2)
E0025
E1024_SIGMA
E1132_SIGMA
E2257_SIGMA
E2758_SIGMA
E8875_SIGMA
EINECS 200-023-8
EU-0100503
Elestrin
Encore
Epiestriol 50
Esclim
Estra-1,3,5(10)-triene-3,17b-diol
Estrace
Estrace (TN)
Estraderm
Estraderm (TN)
Estraderm MX
Estraderm TTS
Estraderm TTS 100
Estraderm TTS 50
Estradiol
Estradiol [USAN:INN]
Estradiol-17 beta
Estradiol-17-beta
Estradiol-17.beta.
Estradiol-17beta
Estradiol-3,17beta
Estradiolo
Estradiolo [DCIT]
Estradiolum
Estradiolum [INN]
Estradot
Estraldine
Estrapak 50
Estrasorb
Estrasorb (TN)
Estreva
Estrifam
Estring
Estring (TN)
Estring Vaginal Ring
Estring vaginal ring
Estroclim
Estroclim 50
Estrodiolum
Estrofem 2
Estrofem Forte
Estrogel
 
Estrogel (TN)
Estrogel HBF
Estrovite
Evamist
Evorel
Extrasorb
Femanest
Femestral
Femestrol
Femogen
Fempatch
Femtrace
Femtran
Follicyclin
Gelestra
Ginedisc
Ginosedol
GynPolar
Gynergon
Gynestrel
Gynodiol
Gynoestryl
HMS1362E07
HMS1569I04
HMS1792E07
HMS1990E07
HMS2051C17
HMS2090E18
HSDB 3589
IDI1_002118
Innofem
Innofem (TN)
KBio2_000405
KBio2_002269
KBio2_002973
KBio2_004837
KBio2_005541
KBio2_007405
KBio3_000769
KBio3_000770
KBio3_002749
KBioGR_000405
KBioGR_002269
KBioSS_000405
KBioSS_002270
LMST02010001
LS-137
Lamdiol
Lio-Oid
Lopac0_000503
MLS000069494
MLS000758312
MLS001076331
Macrodiol
Macrol
Menest
Menorest
Menostar
Microdiol
MolPort-001-794-632
NCGC00091544-00
NCGC00091544-01
NCGC00091544-02
NCGC00091544-04
NCGC00091544-05
NCGC00091544-06
NCGC00091544-07
NCGC00091544-08
NCGC00091544-09
NCGC00091544-12
NCGC00179321-01
NCGC00179321-02
NSC-9895
NSC9895
Nordicol
Oesclim
Oestergon
Oestra-1,3,5(10)-triene-3,17b-diol
Oestradiol
Oestradiol Berco
Oestradiol R
Oestradiol-17-beta
Oestradiol-17.beta.
Oestradiol-17beta
Oestradiolum
Oestrogel
Oestroglandol
Oestrogynal
Ovahormon
Ovasterol
Ovastevol
Ovociclina
Ovocyclin
Ovocycline
Ovocylin
Perlatanol
Polyestradiol
Prestwick0_000441
Prestwick1_000441
Prestwick2_000441
Prestwick3_000441
Prestwick_207
Primofol
Profoliol
Profoliol B
Progynon
Progynon DH
Progynon-DH
S-21400
S1709_Selleck
SAM001247032
SK-Estrogens
SL-1100
SMP1_000121
SMR000059126
SPBio_002421
Sandrena 1
Sandrena Gel
Sisare Gel
Spectrum5_002055
Syndiol
Systen
Tradelia
Trial SAT
Trocosone
UNII-4TI98Z838E
VIVELLE-DOT
Vagifem
Vagifem (TN)
Vivelle
Vivelle (TN)
Zerella
Zesteem
Zesteen
Zumenon
[2,4,6,7-3H]-E2
[3H]-estradiol
[3H]]estradiol
b-Estradiol
beta-Estradiol
beta-Estradiol 3-sulfate
beta-Estradiol 3-sulphate
bmse000642
cMAP_000005
cis-Estradiol
cis-Oestradiol
component of Menrium
delta-Estradiol
delta-Oestradiol
estradiol
estradiol-17beta
nchembio.168-comp3
nchembio.76-comp2
nchembio775-comp2
nchembio794-comp6
nchembio860-comp1
progynon

Interventional clinical trials:

(show all 19)
idNameStatusNCT IDPhase
1Sequential Therapy for Hypogonadotropic HypogonadismCompletedNCT01403532Phase 4
2Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin Treat Congenital Hypogonadotropic HypogonadismRecruitingNCT02880280Phase 4
3Letrozole Treatment in Normal and GnRH Deficient WomenActive, not recruitingNCT00351416Phase 2, Phase 3
4Administration of Kisspeptin to Subjects With Reproductive DisordersRecruitingNCT00914823Phase 2
5Pulsatile GnRH in Anovulatory InfertilityRecruitingNCT00383656Phase 2
6Follicle Stimulating Hormone (FSH) to Improve Testicular Development in Men With HypogonadismTerminatedNCT00064987Phase 2
7Kisspeptin in the Evaluation of Delayed PubertyRecruitingNCT01438034Phase 1
8Characterization of WAGR Syndrome and Other Chromosome 11 Gene DeletionsCompletedNCT00758108
9Investigating the Regulation of Reproductive Hormones in Adult MenCompletedNCT00392457
10Study of the Pathophysiological Mechanisms Involved in Bleeding EventsCompletedNCT01314560
11Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated DiseasesCompletedNCT01252901
12Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
13Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive DisordersRecruitingNCT00494169
14Baselines in Reproductive DisordersRecruitingNCT00456274
15The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome)RecruitingNCT01601171
16Examination of Idiopathic Hypogonadotropic Hypogonadism (IHH)and Kallmann Syndrome (KS)RecruitingNCT00392756
17Studying the Effects of 7 Days of Gonadotropin Releasing Hormone (GnRH) Treatment in Men With HypogonadismActive, not recruitingNCT00493961
18Health Needs of Patients With Kallmann SyndromeActive, not recruitingNCT01914172
19A Study to Characterize Epidemiology, Clinical and Genetic Features of Kallmann Syndrome in FinlandEnrolling by invitationNCT00623116

Search NIH Clinical Center for 46 Xy Gonadal Dysgenesis


Cochrane evidence based reviews: gonadal dysgenesis, 46,xy

Genetic Tests for 46 Xy Gonadal Dysgenesis

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Genetic tests related to 46 Xy Gonadal Dysgenesis:

id Genetic test Affiliating Genes
1 Pure Gonadal Dysgenesis 46,xy25

Anatomical Context for 46 Xy Gonadal Dysgenesis

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MalaCards organs/tissues related to 46 Xy Gonadal Dysgenesis:

34
Ovary, Uterus, Testes, Testis, Skin

Animal Models for 46 Xy Gonadal Dysgenesis or affiliated genes

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MGI Mouse Phenotypes related to 46 Xy Gonadal Dysgenesis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.3CBX2, CYP11A1, CYP17A1, FGF10, GATA6, MAP3K1
2MP:00053796.5CBX2, CYP11A1, DHH, DMRT1, FGF10, NR0B1
3MP:00053766.3CYP11A1, CYP17A1, DHH, FGF10, GATA6, MAP3K1
4MP:00053895.7CBX2, CYP11A1, CYP17A1, DHH, DMRT1, FGF10
5MP:00107685.6C2orf80, CBX2, CYP11A1, CYP17A1, FGF10, GATA6

Publications for 46 Xy Gonadal Dysgenesis

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Articles related to 46 Xy Gonadal Dysgenesis:

idTitleAuthorsYear
1
Swyer syndrome in a woman with pure 46, XY gonadal dysgenesis and a hypoplastic uterus. (25606286)
2013
2
46 XY gonadal dysgenesis in adulthood 'pitfalls of late diagnosis'. (22665403)
2012
3
46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism. (22288726)
2012
4
A novel WT1 gene mutation in a patient with Wilms' tumor and 46, XY gonadal dysgenesis. (21384108)
2011
5
46, XY gonadal dysgenesis and chronic renal failure: first reported case with Frasier syndrome from Turkey. (15658629)
2004
6
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
7
Development of germ cell tumour in 46 XY gonadal dysgenesis: a report of two cases. (6315847)
1983
8
46, XY gonadal dysgenesis with secondary amenorrhea, virilization, and bilateral gonadoblastomas. (572994)
1979

Variations for 46 Xy Gonadal Dysgenesis

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Expression for genes affiliated with 46 Xy Gonadal Dysgenesis

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

Pathways for genes affiliated with 46 Xy Gonadal Dysgenesis

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GO Terms for genes affiliated with 46 Xy Gonadal Dysgenesis

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Cellular components related to 46 Xy Gonadal Dysgenesis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear transcription factor complexGO:004479810.0SOX9, SRY

Biological processes related to 46 Xy Gonadal Dysgenesis according to GeneCards Suite gene sharing:

(show all 49)
idNameGO IDScoreTop Affiliating Genes
1sex determinationGO:000753010.4NR0B1, SOX3
2hypothalamus developmentGO:002185410.4NR0B1, SOX3
3renal vesicle inductionGO:007203410.3SOX9, WNT4
4female gonad developmentGO:000858510.2NR5A1, WNT4
5Harderian gland developmentGO:007038410.1FGF10, SOX9
6lacrimal gland developmentGO:003280810.1FGF10, SOX9
7C21-steroid hormone biosynthetic processGO:000670010.1CYP11A1, STAR
8hormone metabolic processGO:004244510.1NR5A1, WNT4
9Sertoli cell developmentGO:006000910.1DMRT1, SOX9
10otic vesicle formationGO:003091610.0FGF10, SOX9
11limb bud formationGO:006017410.0FGF10, SOX9
12glucocorticoid biosynthetic processGO:000670410.0CYP11A1, CYP17A1
13response to herbicideGO:000963510.0CYP17A1, STAR
14phenol-containing compound metabolic processGO:001895810.0CYP17A1, STAR
15response to fungicideGO:006099210.0CYP17A1, STAR
16phthalate metabolic processGO:001896310.0CYP17A1, STAR
17biphenyl metabolic processGO:001887910.0CYP17A1, STAR
18response to insecticideGO:001708510.0CYP17A1, STAR
19cellular response to antibioticGO:007123610.0CYP17A1, STAR
20dibenzo-p-dioxin metabolic processGO:001889410.0CYP17A1, STAR
21regulation of steroid biosynthetic processGO:005081010.0DHH, NR5A1, STAR
22sterol metabolic processGO:001612510.0CYP11A1, CYP17A1
23ERK1 and ERK2 cascadeGO:007037110.0FGF10, SOX9
24tube morphogenesisGO:003523910.0GATA6, WNT4
25Sertoli cell differentiationGO:00600089.9DMRT1, NR0B1, SOX9
26Leydig cell differentiationGO:00333279.9CYP17A1, DHH, NR0B1
27epithelial tube branching involved in lung morphogenesisGO:00604419.9FGF10, SOX9
28androgen biosynthetic processGO:00067029.8CYP17A1, WNT4
29Type II pneumocyte differentiationGO:00605109.8FGF10, GATA6
30oocyte developmentGO:00485999.8DMRT1, WNT4
31animal organ formationGO:00486459.8FGF10, GATA6
32positive regulation of male gonad developmentGO:20000209.7DMRT1, NR5A1, SOX9, SRY
33cell fate commitmentGO:00451659.7GATA6, SOX9, WNT4
34lung saccule developmentGO:00604309.7FGF10, GATA6
35steroid biosynthetic processGO:00066949.7CYP17A1, NR0B1, STAR
36response to estrogenGO:00436279.7DHH, GATA6, STAR
37mesonephros developmentGO:00018239.7FGF10, WNT4
38pituitary gland developmentGO:00219839.6FGF10, NR0B1, SOX3
39cellular response to transforming growth factor beta stimulusGO:00715609.5SOX9, STAR, WNT4
40cellular response to gonadotropin stimulusGO:00713719.5CYP17A1, GATA6, STAR
41male sex determinationGO:00302389.4DHH, DMRT1, NR0B1, SOX9, SRY
42adrenal gland developmentGO:00303259.3CYP17A1, NR0B1, NR5A1, WNT4
43negative regulation of cell differentiationGO:00455969.2FGF10, NR0B1, WNT4
44smooth muscle cell differentiationGO:00511459.0FGF10, GATA6, WNT4
45sex differentiationGO:00075489.0CYP17A1, DMRT1, WNT4
46negative regulation of transcription from RNA polymerase II promoterGO:00001228.3CBX2, DMRT1, GATA6, NR0B1, SOX3, SOX9
47positive regulation of transcription, DNA-templatedGO:00458938.1FGF10, GATA6, NR5A1, SOX9, SRY, WNT4
48cell differentiationGO:00301548.1CBX2, FGF10, NR0B1, NR5A1, SOX9, SRY
49male gonad developmentGO:00085847.9DMRT1, GATA6, NR0B1, NR5A1, SOX9, SRY

Molecular functions related to 46 Xy Gonadal Dysgenesis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037059.8GATA6, NR5A1, SOX9, SRY
2transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012289.8DMRT1, GATA6, SOX9
3sequence-specific DNA bindingGO:00435659.0DMRT1, GATA6, NR0B1, NR5A1, SOX9
4chromatin bindingGO:00036828.9CBX2, DMRT1, GATA6, NR5A1, SOX9
5DNA bindingGO:00036778.0CBX2, GATA6, NR0B1, NR5A1, SOX3, SOX9

Sources for 46 Xy Gonadal Dysgenesis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet