MCID: 46X001
MIFTS: 44

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 15
Swyer Syndrome 12 76 53 25 59 55 73
Gonadal Dysgenesis, Xy Female Type 53 25 13
Pure Gonadal Dysgenesis 46,xy 12 25 29
Gonadal Dysgenesis, 46,xy 25 44 73
46,xy Sex Reversal 12 25 40
46,xy Complete Gonadal Dysgenesis 25 59
46,xy Cgd 25 59
46, Xy Complete Gonadal Dysgenesis 53
46, Xy Pure Gonadal Dysgenesis 53
46,xy Pure Gonadal Dysgenesis 59
Xy Pure Gonadal Dysgenesis 25
46, Xy Cgd 53

Characteristics:

Orphanet epidemiological data:

59
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 44 D006061
NCIt 50 C120198
Orphanet 59 ORPHA242
UMLS via Orphanet 74 C2936694 C0018054
ICD10 via Orphanet 34 Q99.1

Summaries for 46 Xy Gonadal Dysgenesis

NIH Rare Diseases : 53 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.

MalaCards based summary : 46 Xy Gonadal Dysgenesis, also known as swyer syndrome, is related to amenorrhea and gonadoblastoma. 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 male pseudohermaphroditism and hypogonadotrophic hypogonadism

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.

Wikipedia : 76 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 37)
# Related Disease Score Top Affiliating Genes
1 amenorrhea 30.7 NR5A1 SHBG SRY
2 gonadoblastoma 30.7 SOX9 SRY WT1
3 frasier syndrome 30.2 NR5A1 SOX9 SRY WT1
4 gonadal dysgenesis 28.2 C2orf80 DHH DMRT1 MAP3K1 NR0B1 NR5A1
5 46,xy sex reversal 7 11.4
6 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 10.8 DHH LOC105369759
7 mixed gonadal dysgenesis 10.7 DHH SOX9 SRY
8 hermaphroditism 10.7 SHBG SOX9 SRY
9 anorchia 10.5 NR5A1 SRY
10 androgen insensitivity syndrome 10.4 NR5A1 SHBG SRY
11 alternating hemiplegia of childhood 10.4 NR0B1 NR5A1 SRY
12 turner syndrome 10.4 CGB3 SHBG SRY
13 reproductive system disease 10.3 NR5A1 SHBG SRY
14 gonadal disease 10.3 NR0B1 NR5A1 SHBG SRY
15 testicular disease 10.1 SOX9 SRY
16 46,xy sex reversal 1 10.1
17 wilms tumor 5 10.1
18 wilms tumor 6 10.1
19 pseudohermaphroditism 10.1 NR5A1 SRY WT1
20 46,xx sex reversal 1 10.1 NR0B1 NR5A1 SOX3 SOX9 SRY
21 persistent mullerian duct syndrome 10.0 NR5A1 SOX9 SRY WT1
22 cryptorchidism, unilateral or bilateral 9.9 NR5A1 SHBG SRY WT1
23 adrenal cortical hypofunction 9.9 CYP11A1 NR0B1 NR5A1
24 sertoli cell tumor 9.9 NR5A1 WT1
25 wilms tumor 1 9.9 NR0B1 NR5A1 SRY WT1
26 adrenal hypoplasia, congenital 9.7 NR0B1 NR5A1 STAR
27 ovarian disease 9.6 CYP11A1 NR5A1 SHBG
28 testicular leydig cell tumor 9.3 CGB3 CYP11A1 STAR
29 hypoadrenocorticism, familial 9.3 CYP11A1 NR0B1 STAR
30 hypospadias 9.3 CYP11A1 NR5A1 SOX9 SRY WT1
31 steroid inherited metabolic disorder 9.2 CYP11A1 STAR
32 leydig cell tumor 9.2 CYP11A1 NR5A1 STAR
33 46,xy partial gonadal dysgenesis 9.1 DHH MAP3K1 NR0B1 NR5A1 SOX9 SRY
34 lipoid congenital adrenal hyperplasia 9.0 CYP11A1 NR5A1 SRY STAR
35 adrenal carcinoma 9.0 CYP11A1 NR0B1 NR5A1 STAR
36 adrenocortical carcinoma, hereditary 9.0 CYP11A1 NR0B1 NR5A1 STAR
37 premature ovarian failure 1 8.5 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:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 male pseudohermaphroditism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000037
2 hypogonadotrophic hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000044
3 polycystic ovaries 59 32 hallmark (90%) Very frequent (99-80%) HP:0000147
4 testicular dysgenesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008715

MGI Mouse Phenotypes related to 46 Xy Gonadal Dysgenesis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.65 CBX2 CYP11A1 DHH DMRT1 NR0B1 NR5A1
2 reproductive system MP:0005389 9.36 CYP11A1 DHH DMRT1 DMRT2 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 29

Anatomical Context for 46 Xy Gonadal Dysgenesis

MalaCards organs/tissues related to 46 Xy Gonadal Dysgenesis:

41
Ovary, Uterus, Testes, Skin, Testis, Lymph Node, Breast

Publications for 46 Xy Gonadal Dysgenesis

Articles related to 46 Xy Gonadal Dysgenesis:

(show top 50) (show all 62)
# 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
Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis: a rare presentation. ( 29746049 )
2017
5
A Case of Primary Amenorrhea with Swyer Syndrome. ( 29430160 )
2017
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
Mixed Germ Cell Tumour in a Case of Pure Gonadal Dysgenesis (Swyer Syndrome) - A Case Report. ( 26918227 )
2016
9
A case of swyer syndrome associated with advanced gonadal dysgerminoma involving long survival. ( 25960730 )
2015
10
A germ cell tumor in a patient with Swyer syndrome with ambiguous genitalia. ( 26643315 )
2015
11
The laparoscopic management of Swyer syndrome: Case series. ( 26692777 )
2015
12
Incidental gonadal tumors at the time of gonadectomy in women with swyer syndrome: a case series. ( 25532682 )
2015
13
Dysgerminoma on a gonadoblastoma in a patient with Swyer syndrome treated with single incision laparoscopic surgery. ( 24960113 )
2014
14
Swyer syndrome. ( 25314337 )
2014
15
Swyer Syndrome With Seminoma: Laparoscopic Bilateral Gonad Resection. ( 25460519 )
2014
16
Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report. ( 25153220 )
2014
17
Familial Swyer syndrome in two sisters with undeveloped uterus. ( 24832210 )
2014
18
Anti-Ma-associated encephalitis due to dysgerminoma in a woman with Swyer syndrome. ( 24711536 )
2014
19
Anti-Ma-associated encephalitis due to dysgerminoma in a woman with Swyer syndrome. ( 23486885 )
2013
20
Differentiating Swyer Syndrome and Complete Androgen Insensitivity Syndrome: A Diagnostic Dilemma. ( 24119655 )
2013
21
Swyer syndrome in a woman with pure 46, XY gonadal dysgenesis and a hypoplastic uterus. ( 25606286 )
2013
22
46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism. ( 22288726 )
2012
23
Bilateral dysgerminoma in a patient with a previous diagnosis of Swyer syndrome. ( 22176344 )
2012
24
46 XY gonadal dysgenesis in adulthood 'pitfalls of late diagnosis'. ( 22665403 )
2012
25
Swyer syndrome : a case report with literature review. ( 23478733 )
2012
26
Successful pregnancy in a Swyer syndrome patient with preexisting hypertension. ( 21782051 )
2011
27
Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (Swyer syndrome): a case report. ( 21929773 )
2011
28
A novel WT1 gene mutation in a patient with Wilms' tumor and 46, XY gonadal dysgenesis. ( 21384108 )
2011
29
Pregnancy in patient with Swyer syndrome. ( 21195397 )
2011
30
Swyer syndrome, 46,XY gonadal dysgenesis, a sex reversal disorder with dysgerminoma: a case report and literature review. ( 22268289 )
2011
31
Complete gonadal dysgenesis 46,XY (Swyer syndrome) in two sisters and their mother's maternal aunt with a female phenotype. ( 21145048 )
2011
32
Malignant germ cell tumors associated with Swyer syndrome. ( 21225934 )
2011
33
Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis and a hypoplastic uterus: a rare presentation. ( 19914618 )
2010
34
Bilateral gonadoblastomas with unilateral dysgerminoma in a case of 46 XY pure gonadal dysgenesis (Swyer syndrome). ( 20551568 )
2010
35
Hypoplastic uterus and clitoris enlargement in Swyer syndrome. ( 19643642 )
2010
36
Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome. ( 18990383 )
2009
37
Swyer syndrome: presentation and outcomes. ( 18410658 )
2008
38
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
39
Medical image. A prepubescent mass. Swyer syndrome with a bilateral dysgerminoma. ( 18392069 )
2008
40
Pure 46,XY gonadal dysgenesis (Swyer syndrome) with breast development and secondary amenorrhea. ( 18645253 )
2008
41
Dysgerminoma in three patients with Swyer syndrome. ( 17587461 )
2007
42
Tumors of dysgenetic gonads in Swyer syndrome. ( 17923202 )
2007
43
Multiple different ovarian cancer histotypes in a patient affected by Swyer syndrome. ( 16677695 )
2006
44
Haemophilia A in a female caused by coincidence of a Swyer syndrome and a missense mutation in factor VIII gene. ( 16601852 )
2006
45
Swyer syndrome with SRY + Y chromosome and rudimentary internal genitalia demonstrating temporary action of antimA1llerian hormone in utero: a case report. ( 16846094 )
2006
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
46,XY sex-reversal (Swyer syndrome) and congenital diaphragmatic hernia. ( 15389702 )
2004
49
Familial ovarian dysgerminomas (Swyer syndrome) in females associated with 46 XY-karyotype. ( 12012620 )
2002
50
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

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 19)
# Name GO ID Score Top Affiliating Genes
1 male gonad development GO:0008584 9.73 DMRT1 NR0B1 NR5A1 SOX9 STAR WT1
2 steroid biosynthetic process GO:0006694 9.65 CYP11A1 NR0B1 STAR
3 sex differentiation GO:0007548 9.62 CBX2 DMRT1 DMRT2 SRY
4 adrenal gland development GO:0030325 9.61 NR0B1 NR5A1 WT1
5 regulation of steroid biosynthetic process GO:0050810 9.58 DHH NR5A1 STAR
6 hypothalamus development GO:0021854 9.57 NR0B1 SOX3
7 gonad development GO:0008406 9.56 NR0B1 WT1
8 C21-steroid hormone biosynthetic process GO:0006700 9.54 CYP11A1 STAR
9 Sertoli cell differentiation GO:0060008 9.54 DMRT1 NR0B1 SOX9
10 Leydig cell differentiation GO:0033327 9.52 DHH NR0B1
11 Sertoli cell development GO:0060009 9.51 DMRT1 SOX9
12 cellular response to gonadotropin stimulus GO:0071371 9.49 STAR WT1
13 negative regulation of female gonad development GO:2000195 9.46 NR5A1 WT1
14 sex determination GO:0007530 9.46 NR0B1 NR5A1 SOX3 WT1
15 male sex determination GO:0030238 9.35 DHH DMRT1 NR0B1 SOX9 SRY
16 positive regulation of male gonad development GO:2000020 9.02 DMRT1 NR5A1 SOX9 SRY WT1
17 regulation of transcription, DNA-templated GO:0006355 10.23 CBX2 DMRT1 DMRT2 NR0B1 NR5A1 SOX3
18 transcription, DNA-templated GO:0006351 10.2 CBX2 DMRT1 DMRT2 NR0B1 NR5A1 SOX3
19 cell differentiation GO:0030154 10.06 CBX2 DMRT1 NR0B1 NR5A1 SOX9 SRY

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.91 CBX2 DMRT1 DMRT2 NR0B1 NR5A1 SOX3
2 DNA binding transcription factor activity GO:0003700 9.8 DMRT1 DMRT2 NR5A1 SOX9 SRY WT1
3 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.56 DMRT1 DMRT2 NR0B1 NR5A1 SOX3 SOX9
4 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.33 NR5A1 SOX9 SRY
5 sequence-specific DNA binding GO:0043565 9.1 DMRT1 DMRT2 NR0B1 NR5A1 SOX9 WT1

Sources for 46 Xy Gonadal Dysgenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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