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

Aliases & Descriptions for 46 Xy Gonadal Dysgenesis:

Name: 46 Xy Gonadal Dysgenesis 12 14
Swyer Syndrome 12 50 25 56 52 69
Gonadal Dysgenesis, Xy Female Type 50 25 13
Gonadal Dysgenesis, 46,xy 25 42 69
46,xy Complete Gonadal Dysgenesis 25 56
Pure Gonadal Dysgenesis 46,xy 12 25
46,xy Pure Gonadal Dysgenesis 56 29
46,xy Sex Reversal 12 25
46,xy Cgd 25 56
46, Xy Complete Gonadal Dysgenesis 50
46, Xy Pure Gonadal Dysgenesis 50
Xy Pure Gonadal Dysgenesis 25
46, Xy Cgd 50

Characteristics:

Orphanet epidemiological data:

56
46,xy complete gonadal dysgenesis
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 Ontology 12 DOID:14448
MeSH 42 D006061
NCIt 47 C120198
Orphanet 56 ORPHA242
UMLS via Orphanet 70 C2936694
ICD10 via Orphanet 34 Q99.1
UMLS 69 C0018054

Summaries for 46 Xy Gonadal Dysgenesis

NIH Rare Diseases : 50 swyer syndrome is a condition in which people with one x chromosome and 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 hypogonadotrophic hypogonadism, polycystic ovaries and male pseudohermaphroditism. An important gene associated with 46 Xy Gonadal Dysgenesis is SRY (Sex Determining Region Y), and among its related pathways/superpathways are Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and Metabolism of steroid hormones. The drugs Zinc and Menotropins have been mentioned in the context of this disorder. Affiliated tissues include ovary, uterus and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and endocrine/exocrine gland

Genetics Home Reference : 25 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.

Disease Ontology : 12 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.

Related Diseases for 46 Xy Gonadal Dysgenesis

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 57)
id Related Disease Score Top Affiliating Genes
1 46,xy disorder of sex development and 46,xy complete gonadal dysgenesis 12.4
2 adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete 11.9
3 46xy sex reversal 1 11.9
4 46xy sex reversal 3 11.9
5 46xy sex reversal 6 11.9
6 46xy sex reversal 9 11.9
7 46xy sex reversal 8 11.8
8 46xy sex reversal 7 11.8
9 46xy sex reversal 5 11.8
10 46xy sex reversal 2, dosage-sensitive 11.8
11 map3k1-related 46,xy dsd and 46,xy cgd 11.3
12 congenital adrenal insufficiency 11.3
13 sry-related 46,xy dsd and 46,xy cgd 11.1
14 cbx2-related 46,xy dsd and 46,xy cgd 11.1
15 gonadal dysgenesis 10.5
16 brucella melitensis brucellosis 10.3 DHH SOX9 SRY
17 spermatogenic failure, y-linked, 1 10.2 SOX9 SRY
18 cone dystrophy 10.2 NR5A1 SOX9 SRY
19 hypospadias 1, x-linked 10.2 NR5A1 SHBG SRY
20 cytomegalovirus retinitis 10.2 NR0B1 NR5A1 STAR
21 8p23.1 duplication syndrome 10.2 NR5A1 SOX3 SOX9 SRY
22 duchenne muscular dystrophy 10.2 NR0B1 NR5A1 STAR
23 centrotemporal epilepsy 10.2 NR0B1 NR5A1
24 malignant otitis externa 10.2 CYP11A1 NR0B1 NR5A1
25 capillary lymphangioma 10.2 NR5A1 SHBG SRY
26 deafness, autosomal dominant 7 10.2 NR0B1 NR5A1 SRY
27 sphingolipidosis 10.1 CYP17A1 SHBG SRY
28 intraventricular meningioma 10.1 SHBG SOX9 SRY WNT4
29 cerebral cavernous malformations-2 10.1 NR0B1 NR5A1 SOX9 SRY
30 deafness, autosomal recessive 51 10.1 NR5A1 SOX9 SRY STAR
31 acute gonococcal salpingitis 10.1 NR5A1 SHBG SRY WNT4
32 ameloblastoma 10.1 CYP11A1 CYP17A1 NR5A1
33 x-linked sideroblastic anemia with ataxia 10.1 CYP11A1 CYP17A1 STAR
34 antisynthetase syndrome 10.1 NR5A1 SRY
35 clear cell acanthoma 10.1 CYP11A1 CYP17A1 STAR
36 microphthalmia, syndromic 9 10.1 CYP11A1 CYP17A1 STAR
37 avoidant personality disorder 10.1 NR5A1 SHBG SRY
38 liver sarcoma 10.1 CYP11A1 CYP17A1 STAR
39 cardiomyopathy, dilated, 1v 10.0 CYP11A1 CYP17A1 NR0B1 NR5A1
40 pelvic muscle wasting 10.0 CYP17A1 SHBG WNT4
41 frasier syndrome 10.0
42 gonadoblastoma 10.0
43 amenorrhea 10.0
44 second-degree atrioventricular block 10.0 CYP11A1 CYP17A1 STAR
45 hypermobility syndrome 10.0 CYP11A1 CYP17A1 STAR
46 autosomal dominant optic atrophy and late-onset deafness 10.0 DHH MAP3K1 NR0B1 NR5A1 SOX9 SRY
47 jackson-weiss syndrome 10.0 CYP11A1 CYP17A1 NR5A1 STAR
48 glioma susceptibility 1 10.0 CYP11A1 CYP17A1 NR5A1 STAR
49 benign essential hypertension 9.9 CYP17A1 FGF10 NR5A1 SOX9 SRY
50 campomelic dysplasia 9.9

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



Diseases related to 46 Xy Gonadal Dysgenesis

Symptoms & Phenotypes for 46 Xy Gonadal Dysgenesis

Human phenotypes related to 46 Xy Gonadal Dysgenesis:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypogonadotrophic hypogonadism 56 32 Very frequent (99-80%) HP:0000044
2 polycystic ovaries 56 32 Very frequent (99-80%) HP:0000147
3 male pseudohermaphroditism 56 32 Very frequent (99-80%) HP:0000037
4 testicular dysgenesis 56 32 Very frequent (99-80%) HP:0008715

GenomeRNAi Phenotypes related to 46 Xy Gonadal Dysgenesis according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.85 CYP11A1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.85 NR5A1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.85 GATA6 WNT4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.85 WNT4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.85 CYP11A1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.85 GATA6
7 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.85 CGB3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.85 CYP11A1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.85 NR5A1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.85 CYP11A1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.85 WNT4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.85 GATA6
13 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.85 CYP11A1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.85 WNT4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.85 GATA6
16 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.85 CYP11A1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.85 WNT4
18 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.85 NR5A1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.85 WNT4
20 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.85 GATA6
21 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.85 CGB3
22 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.85 GATA6 NR5A1 CGB3 WNT4 CYP11A1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.85 GATA6
24 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.85 WNT4 GATA6
25 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.85 GATA6
26 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.85 NR5A1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.85 GATA6
28 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.85 WNT4

MGI Mouse Phenotypes related to 46 Xy Gonadal Dysgenesis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.9 CBX2 CYP11A1 DHH DMRT1 FGF10 NR0B1
2 mortality/aging MP:0010768 9.73 C2orf80 CBX2 CYP11A1 CYP17A1 FGF10 GATA6
3 reproductive system MP:0005389 9.44 STAR WNT4 CBX2 CYP11A1 CYP17A1 DHH

Drugs & Therapeutics for 46 Xy Gonadal Dysgenesis

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

(show all 41)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved Phase 4 7440-66-6 32051 23994
2
Menotropins Approved Phase 4 61489-71-2 5360545
3 Chorionic Gonadotropin Phase 4
4 Follicle Stimulating Hormone Phase 4,Phase 2
5 Hormone Antagonists Phase 4,Phase 2,Phase 1
6 Hormones Phase 4,Phase 2,Phase 1
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 1
8 Fertility Agents Phase 4
9
Methyltestosterone Approved Phase 2,Phase 1 58-18-4 6010
10
Testosterone Approved, Investigational Phase 2,Phase 1 58-22-0 6013
11 Testosterone 17 beta-cypionate Phase 2,Phase 1
12
Testosterone enanthate Phase 2,Phase 1 315-37-7 9416
13 Testosterone undecanoate Phase 2,Phase 1
14
Anastrozole Approved, Investigational Phase 1 120511-73-1 2187
15 Steroid Synthesis Inhibitors Phase 1
16 Anabolic Agents Phase 1
17 Androgens Phase 1
18 Antineoplastic Agents, Hormonal Phase 1
19 Estrogens Phase 1
20 Aromatase Inhibitors Phase 1
21 Estrogen Antagonists Phase 1
22 Hypoglycemic Agents Phase 1
23 insulin Phase 1
24 Insulin, Globin Zinc Phase 1
25
Ketoconazole Approved, Investigational 65277-42-1 47576 3823
26
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
27
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757 53477783
28
Estrone Approved 53-16-7 5870
29 Antifungal Agents
30 Anti-Infective Agents
31 Cytochrome P-450 CYP3A Inhibitors
32 Cytochrome P-450 Enzyme Inhibitors
33 Hemostatics
34 Contraceptive Agents
35 Drospirenone and ethinyl estradiol combination
36 Estradiol 17 beta-cypionate
37 Estradiol 3-benzoate
38 Estradiol valerate 979-32-8
39 Estropipate 7280-37-7
40 Polyestradiol phosphate
41 Trisequens

Interventional clinical trials:

(show all 20)
id Name Status NCT ID Phase
1 Sequential Therapy for Hypogonadotropic Hypogonadism Completed NCT01403532 Phase 4
2 Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin Treat Congenital Hypogonadotropic Hypogonadism Recruiting NCT02880280 Phase 4
3 Pulsatile GnRH in Anovulatory Infertility Recruiting NCT00383656 Phase 2
4 Follicle Stimulating Hormone (FSH) to Improve Testicular Development in Men With Hypogonadism Terminated NCT00064987 Phase 2
5 Kisspeptin in the Evaluation of Delayed Puberty Recruiting NCT01438034 Phase 1
6 Administration of Kisspeptin to Subjects With Reproductive Disorders Recruiting NCT00914823 Phase 1
7 Effect of Varying Testosterone Levels on Insulin Sensitivity in Men With Idiopathic Hypogonadotropic Hypogonadism (IHH) Terminated NCT03118479 Phase 1
8 Investigating the Regulation of Reproductive Hormones in Adult Men Completed NCT00392457
9 Study of the Pathophysiological Mechanisms Involved in Bleeding Events Completed NCT01314560
10 Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions Completed NCT00758108
11 Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated Diseases Completed NCT01252901
12 Health, Fitness, and Quality of Life in Adolescent Girls With Turner Syndrome Recruiting NCT03181230
13 Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders Recruiting NCT00494169
14 Baselines in Reproductive Disorders Recruiting NCT00456274
15 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
16 Examination of Idiopathic Hypogonadotropic Hypogonadism (IHH)and Kallmann Syndrome (KS) Recruiting NCT00392756
17 The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome) Recruiting NCT01601171
18 Studying the Effects of 7 Days of Gonadotropin Releasing Hormone (GnRH) Treatment in Men With Hypogonadism Active, not recruiting NCT00493961
19 Health Needs of Patients With Kallmann Syndrome Active, not recruiting NCT01914172
20 A Study to Characterize Epidemiology, Clinical and Genetic Features of Kallmann Syndrome in Finland Enrolling by invitation NCT00623116

Search NIH Clinical Center for 46 Xy Gonadal Dysgenesis

Cochrane evidence based reviews: gonadal dysgenesis, 46,xy

Genetic Tests for 46 Xy Gonadal Dysgenesis

Genetic tests related to 46 Xy Gonadal Dysgenesis:

id Genetic test Affiliating Genes
1 Pure Gonadal Dysgenesis 46,xy 29

Anatomical Context for 46 Xy Gonadal Dysgenesis

MalaCards organs/tissues related to 46 Xy Gonadal Dysgenesis:

39
Ovary, Uterus, Testes, Skin, Testis

Publications for 46 Xy Gonadal Dysgenesis

Articles related to 46 Xy Gonadal Dysgenesis:

id Title Authors Year
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

Expression for 46 Xy Gonadal Dysgenesis

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

Pathways for 46 Xy Gonadal Dysgenesis

GO Terms for 46 Xy Gonadal Dysgenesis

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

(show all 36)
id Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.97 CGB3 DHH FGF10 NR5A1
2 response to estrogen GO:0043627 9.8 DHH GATA6 STAR
3 negative regulation of cell differentiation GO:0045596 9.79 FGF10 NR0B1 WNT4
4 cellular response to transforming growth factor beta stimulus GO:0071560 9.78 SOX9 STAR WNT4
5 steroid biosynthetic process GO:0006694 9.73 CYP11A1 CYP17A1 NR0B1 STAR
6 pituitary gland development GO:0021983 9.69 FGF10 NR0B1 SOX3
7 epithelial tube branching involved in lung morphogenesis GO:0060441 9.67 FGF10 SOX9
8 adrenal gland development GO:0030325 9.67 NR0B1 NR5A1 WNT4
9 hormone metabolic process GO:0042445 9.66 NR5A1 WNT4
10 hypothalamus development GO:0021854 9.66 NR0B1 SOX3
11 mesonephros development GO:0001823 9.65 FGF10 WNT4
12 oocyte development GO:0048599 9.65 DMRT1 WNT4
13 C21-steroid hormone biosynthetic process GO:0006700 9.65 CYP11A1 STAR
14 Leydig cell differentiation GO:0033327 9.64 DHH NR0B1
15 Sertoli cell development GO:0060009 9.64 DMRT1 SOX9
16 androgen biosynthetic process GO:0006702 9.63 CYP17A1 WNT4
17 limb bud formation GO:0060174 9.63 FGF10 SOX9
18 smooth muscle cell differentiation GO:0051145 9.63 FGF10 GATA6 WNT4
19 cellular response to gonadotropin stimulus GO:0071371 9.62 GATA6 STAR
20 lacrimal gland development GO:0032808 9.6 FGF10 SOX9
21 otic vesicle formation GO:0030916 9.59 FGF10 SOX9
22 lung saccule development GO:0060430 9.58 FGF10 GATA6
23 animal organ formation GO:0048645 9.58 FGF10 GATA6
24 sex determination GO:0007530 9.58 NR0B1 NR5A1 SOX3
25 tube morphogenesis GO:0035239 9.57 GATA6 WNT4
26 Type II pneumocyte differentiation GO:0060510 9.56 FGF10 GATA6
27 positive regulation of male gonad development GO:2000020 9.56 DMRT1 NR5A1 SOX9 SRY
28 sex differentiation GO:0007548 9.55 CBX2 CYP17A1 DMRT1 SRY WNT4
29 Harderian gland development GO:0070384 9.54 FGF10 SOX9
30 regulation of steroid biosynthetic process GO:0050810 9.54 DHH NR5A1 STAR
31 renal vesicle induction GO:0072034 9.52 SOX9 WNT4
32 Sertoli cell differentiation GO:0060008 9.5 DMRT1 NR0B1 SOX9
33 male gonad development GO:0008584 9.5 DMRT1 GATA6 NR0B1 NR5A1 SOX9 STAR
34 male sex determination GO:0030238 9.02 DHH DMRT1 NR0B1 SOX9 SRY
35 cell differentiation GO:0030154 10.08 CBX2 DMRT1 FGF10 NR0B1 NR5A1 SOX9
36 positive regulation of transcription, DNA-templated GO:0045893 10.02 FGF10 GATA6 NR5A1 SOX9 SRY WNT4

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

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.55 DMRT1 GATA6 NR0B1 NR5A1 SOX9
2 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 9.43 DMRT1 GATA6 SOX9
3 chromatin binding GO:0003682 9.35 CBX2 DMRT1 GATA6 NR5A1 SOX9
4 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.92 GATA6 NR5A1 SOX9 SRY

Sources for 46 Xy Gonadal Dysgenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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