MCID: 46X001
MIFTS: 45

46 Xy Gonadal Dysgenesis

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

Aliases & Classifications for 46 Xy Gonadal Dysgenesis

MalaCards integrated aliases for 46 Xy Gonadal Dysgenesis:

Name: 46 Xy Gonadal Dysgenesis 12 14
Swyer Syndrome 12 72 49 24 55 51 69
Gonadal Dysgenesis, Xy Female Type 49 24 13
Pure Gonadal Dysgenesis 46,xy 12 24 28
Gonadal Dysgenesis, 46,xy 24 41 69
46,xy Complete Gonadal Dysgenesis 24 55
46,xy Sex Reversal 12 24
46,xy Cgd 24 55
46, Xy Complete Gonadal Dysgenesis 49
46, Xy Pure Gonadal Dysgenesis 49
46,xy Pure Gonadal Dysgenesis 55
Xy Pure Gonadal Dysgenesis 24
46, Xy Cgd 49

Characteristics:

Orphanet epidemiological data:

55
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 41 D006061
NCIt 46 C120198
Orphanet 55 ORPHA242
UMLS via Orphanet 70 C2936694 C0018054
ICD10 via Orphanet 33 Q99.1

Summaries for 46 Xy Gonadal Dysgenesis

NIH Rare Diseases : 49 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 gonadoblastoma and frasier syndrome, and has symptoms including male pseudohermaphroditism, hypogonadotrophic hypogonadism and polycystic ovaries. An important gene associated with 46 Xy Gonadal Dysgenesis is SRY (Sex Determining Region Y), and among its related pathways/superpathways is Deactivation of the beta-catenin transactivating complex. Affiliated tissues include ovary, uterus and testes, and related phenotypes are endocrine/exocrine gland and reproductive system

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.

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.

Wikipedia : 72 Swyer syndrome, or XY gonadal dysgenesis, is a type of hypogonadism in a person whose karyotype is... more...

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 all 35)
# Related Disease Score Top Affiliating Genes
1 gonadoblastoma 30.4 SOX9 SRY WT1
2 frasier syndrome 30.2 NR5A1 SOX9 SRY WT1
3 amenorrhea 30.0 NR5A1 SHBG SRY WNT4
4 gonadal dysgenesis 29.2 C2orf80 DHH DMRT1 MAP3K1 NR0B1 NR5A1
5 46,xy sex reversal 7 11.4
6 mixed gonadal dysgenesis 10.4 DHH SOX9 SRY
7 anorchia 10.2 NR5A1 SRY
8 androgen insensitivity syndrome 10.2 NR5A1 SHBG SRY
9 turner syndrome 10.2 CGB3 SHBG SRY
10 alternating hemiplegia of childhood 10.2 NR0B1 NR5A1 SRY
11 reproductive system disease 10.1 NR5A1 SHBG SRY
12 gonadal disease 10.1 NR0B1 NR5A1 SHBG SRY
13 46,xy sex reversal 1 10.1
14 wilms tumor 5 10.1
15 wilms tumor 6 10.1
16 hereditary wilms' tumor 10.1
17 46,xx sex reversal 1 10.0 NR0B1 NR5A1 SOX3 SOX9 SRY
18 persistent mullerian duct syndrome 10.0 NR5A1 SOX9 SRY WT1
19 adrenal cortical hypofunction 9.9 CYP11A1 NR0B1 NR5A1
20 cryptorchidism, unilateral or bilateral 9.9 NR5A1 SHBG SRY WT1
21 hermaphroditism 9.9 NR0B1 SHBG SOX9 SRY WNT4
22 wilms tumor 1 9.9 NR0B1 NR5A1 SRY WT1
23 adrenal hypoplasia, congenital 9.8 NR0B1 NR5A1 STAR
24 sertoli cell tumor 9.8 NR5A1 WT1
25 testicular leydig cell tumor 9.6 CGB3 CYP11A1 STAR
26 hypoadrenocorticism, familial 9.5 CYP11A1 NR0B1 STAR
27 hypospadias 9.5 CYP11A1 NR5A1 SOX9 SRY WT1
28 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 9.5 CYP11A1 NR0B1 STAR
29 steroid inherited metabolic disorder 9.4 CYP11A1 STAR
30 46,xy partial gonadal dysgenesis 9.4 DHH MAP3K1 NR0B1 NR5A1 SOX9 SRY
31 lipoid congenital adrenal hyperplasia 9.4 CYP11A1 NR5A1 SRY STAR
32 adrenocortical carcinoma, hereditary 9.4 CYP11A1 NR0B1 NR5A1 STAR
33 adrenal carcinoma 9.4 CYP11A1 NR0B1 NR5A1 STAR
34 polycystic ovary syndrome 9.3 CYP11A1 SHBG STAR
35 premature ovarian failure 1 9.0 CYP11A1 NR5A1 SHBG STAR WT1

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:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 male pseudohermaphroditism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000037
2 hypogonadotrophic hypogonadism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000044
3 polycystic ovaries 55 31 hallmark (90%) Very frequent (99-80%) HP:0000147
4 testicular dysgenesis 55 31 hallmark (90%) Very frequent (99-80%) HP:0008715

MGI Mouse Phenotypes related to 46 Xy Gonadal Dysgenesis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.7 CBX2 CYP11A1 DHH DMRT1 NR0B1 NR5A1
2 reproductive system MP:0005389 9.36 CBX2 CYP11A1 DHH DMRT1 NR0B1 NR5A1

Drugs & Therapeutics for 46 Xy Gonadal Dysgenesis

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Pure Gonadal Dysgenesis 46,xy 28

Anatomical Context for 46 Xy Gonadal Dysgenesis

MalaCards organs/tissues related to 46 Xy Gonadal Dysgenesis:

38
Ovary, Uterus, Testes, Skin, Testis

Publications for 46 Xy Gonadal Dysgenesis

Articles related to 46 Xy Gonadal Dysgenesis:

(show top 50) (show all 61)
# Title Authors Year
1
Twin gestation in a Swyer syndrome patient with superimposed pre-eclampsia. ( 29421927 )
2018
2
Dysgerminoma and Gonadoblastoma with Para-aortic Lymph Node Metastasis in a Patient with Swyer Syndrome. ( 28748865 )
2017
3
Swyer Syndrome With Gonadoblastoma: A Clinicoradiological Approach. ( 28479759 )
2017
4
A Case of Primary Amenorrhea with Swyer Syndrome. ( 29430160 )
2017
5
Mixed Germ Cell Tumour in a Case of Pure Gonadal Dysgenesis (Swyer Syndrome) - A Case Report. ( 26918227 )
2016
6
Dysgerminoma and gonadoblastoma in the course of Swyer syndrome. ( 28547971 )
2016
7
Imaging Findings in Dysgerminoma in a Case of 46 XY, Complete Gonadal Dysgenesis (Swyer syndrome). ( 27790550 )
2016
8
A germ cell tumor in a patient with Swyer syndrome with ambiguous genitalia. ( 26643315 )
2015
9
Incidental gonadal tumors at the time of gonadectomy in women with swyer syndrome: a case series. ( 25532682 )
2015
10
The laparoscopic management of Swyer syndrome: Case series. ( 26692777 )
2015
11
A case of swyer syndrome associated with advanced gonadal dysgerminoma involving long survival. ( 25960730 )
2015
12
Swyer Syndrome With Seminoma: Laparoscopic Bilateral Gonad Resection. ( 25460519 )
2014
13
Dysgerminoma on a gonadoblastoma in a patient with Swyer syndrome treated with single incision laparoscopic surgery. ( 24960113 )
2014
14
Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report. ( 25153220 )
2014
15
Anti-Ma-associated encephalitis due to dysgerminoma in a woman with Swyer syndrome. ( 24711536 )
2014
16
Familial Swyer syndrome in two sisters with undeveloped uterus. ( 24832210 )
2014
17
Swyer syndrome. ( 25314337 )
2014
18
Swyer syndrome in a woman with pure 46, XY gonadal dysgenesis and a hypoplastic uterus. ( 25606286 )
2013
19
Differentiating Swyer Syndrome and Complete Androgen Insensitivity Syndrome: A Diagnostic Dilemma. ( 24119655 )
2013
20
Anti-Ma-associated encephalitis due to dysgerminoma in a woman with Swyer syndrome. ( 23486885 )
2013
21
46 XY gonadal dysgenesis in adulthood 'pitfalls of late diagnosis'. ( 22665403 )
2012
22
Bilateral dysgerminoma in a patient with a previous diagnosis of Swyer syndrome. ( 22176344 )
2012
23
46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism. ( 22288726 )
2012
24
Swyer syndrome : a case report with literature review. ( 23478733 )
2012
25
Pregnancy in patient with Swyer syndrome. ( 21195397 )
2011
26
Complete gonadal dysgenesis 46,XY (Swyer syndrome) in two sisters and their mother's maternal aunt with a female phenotype. ( 21145048 )
2011
27
Successful pregnancy in a Swyer syndrome patient with preexisting hypertension. ( 21782051 )
2011
28
A novel WT1 gene mutation in a patient with Wilms' tumor and 46, XY gonadal dysgenesis. ( 21384108 )
2011
29
Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (Swyer syndrome): a case report. ( 21929773 )
2011
30
Swyer syndrome, 46,XY gonadal dysgenesis, a sex reversal disorder with dysgerminoma: a case report and literature review. ( 22268289 )
2011
31
Malignant germ cell tumors associated with Swyer syndrome. ( 21225934 )
2011
32
Hypoplastic uterus and clitoris enlargement in Swyer syndrome. ( 19643642 )
2010
33
Bilateral gonadoblastomas with unilateral dysgerminoma in a case of 46 XY pure gonadal dysgenesis (Swyer syndrome). ( 20551568 )
2010
34
Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis and a hypoplastic uterus: a rare presentation. ( 19914618 )
2010
35
Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome. ( 18990383 )
2009
36
Swyer syndrome: presentation and outcomes. ( 18410658 )
2008
37
Gonadoblastoma-associated mixed germ cell tumour in 46,XY complete gonadal dysgenesis (Swyer syndrome): analysis of Y chromosomal genotype and OCT3/4 and TSPY expression profile. ( 18312345 )
2008
38
Pure 46,XY gonadal dysgenesis (Swyer syndrome) with breast development and secondary amenorrhea. ( 18645253 )
2008
39
Medical image. A prepubescent mass. Swyer syndrome with a bilateral dysgerminoma. ( 18392069 )
2008
40
Tumors of dysgenetic gonads in Swyer syndrome. ( 17923202 )
2007
41
Dysgerminoma in three patients with Swyer syndrome. ( 17587461 )
2007
42
Multiple different ovarian cancer histotypes in a patient affected by Swyer syndrome. ( 16677695 )
2006
43
Haemophilia A in a female caused by coincidence of a Swyer syndrome and a missense mutation in factor VIII gene. ( 16601852 )
2006
44
Swyer syndrome with SRY + Y chromosome and rudimentary internal genitalia demonstrating temporary action of antimA1llerian hormone in utero: a case report. ( 16846094 )
2006
45
46,XY sex-reversal (Swyer syndrome) and congenital diaphragmatic hernia. ( 15389702 )
2004
46
46, XY gonadal dysgenesis and chronic renal failure: first reported case with Frasier syndrome from Turkey. ( 15658629 )
2004
47
Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome). ( 15183752 )
2004
48
Familial ovarian dysgerminomas (Swyer syndrome) in females associated with 46 XY-karyotype. ( 12012620 )
2002
49
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
50
Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome. ( 9718353 )
1998

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

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

# Super pathways Score Top Affiliating Genes
1 10.43 SOX3 SOX9 SRY

GO Terms for 46 Xy Gonadal Dysgenesis

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 steroid biosynthetic process GO:0006694 9.71 CYP11A1 NR0B1 STAR
2 cellular response to transforming growth factor beta stimulus GO:0071560 9.7 SOX9 STAR WNT4
3 male gonad development GO:0008584 9.7 DMRT1 NR0B1 NR5A1 SOX9 STAR WNT4
4 branching involved in ureteric bud morphogenesis GO:0001658 9.69 SOX9 WNT4 WT1
5 sex differentiation GO:0007548 9.67 CBX2 DMRT1 SRY WNT4
6 female gonad development GO:0008585 9.63 NR5A1 WNT4
7 tissue development GO:0009888 9.62 NR5A1 WT1
8 adrenal gland development GO:0030325 9.62 NR0B1 NR5A1 WNT4 WT1
9 hormone metabolic process GO:0042445 9.61 NR5A1 WNT4
10 hypothalamus development GO:0021854 9.61 NR0B1 SOX3
11 regulation of steroid biosynthetic process GO:0050810 9.61 DHH NR5A1 STAR
12 gonad development GO:0008406 9.6 NR0B1 WT1
13 oocyte development GO:0048599 9.59 DMRT1 WNT4
14 C21-steroid hormone biosynthetic process GO:0006700 9.58 CYP11A1 STAR
15 Leydig cell differentiation GO:0033327 9.58 DHH NR0B1
16 Sertoli cell differentiation GO:0060008 9.58 DMRT1 NR0B1 SOX9
17 Sertoli cell development GO:0060009 9.57 DMRT1 SOX9
18 mesenchymal to epithelial transition GO:0060231 9.56 WNT4 WT1
19 sex determination GO:0007530 9.56 NR0B1 NR5A1 SOX3 WT1
20 cellular response to gonadotropin stimulus GO:0071371 9.55 STAR WT1
21 renal vesicle induction GO:0072034 9.48 SOX9 WNT4
22 negative regulation of female gonad development GO:2000195 9.46 NR5A1 WT1
23 male sex determination GO:0030238 9.35 DHH DMRT1 NR0B1 SOX9 SRY
24 positive regulation of male gonad development GO:2000020 9.02 DMRT1 NR5A1 SOX9 SRY WT1
25 cell differentiation GO:0030154 10.04 CBX2 DMRT1 NR0B1 NR5A1 SOX9 SRY
26 positive regulation of transcription, DNA-templated GO:0045893 10.03 NR5A1 SOX9 SRY WNT4 WT1
27 regulation of transcription by RNA polymerase II GO:0006357 10.02 CGB3 NR5A1 SOX9 SRY WT1

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.35 DMRT1 NR0B1 NR5A1 SOX9 WT1
2 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.8 NR5A1 SOX9 SRY

Sources for 46 Xy Gonadal Dysgenesis

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