MCID: 46X001
MIFTS: 46

46 Xy Gonadal Dysgenesis

Categories: Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases, Skin 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 Gonadal Dysgenesis 37
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
KEGG 37 H00607

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 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy and anorchia. An important gene associated with 46 Xy Gonadal Dysgenesis is DHH (Desert Hedgehog), 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 hypogonadotrophic hypogonadism and polycystic ovaries

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 top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 34.2 DHH LOC105369759
2 anorchia 31.9 NR5A1 SRY
3 46,xy sex reversal 1 30.7 SOX9 SRY
4 gonadoblastoma 30.5 SOX9 SRY WT1
5 mixed gonadal dysgenesis 30.5 DHH SOX9 SRY
6 amenorrhea 30.5 NR5A1 SHBG SRY
7 turner syndrome 30.4 CGB3 SHBG SRY
8 frasier syndrome 30.3 NR5A1 SOX9 SRY WT1
9 gonadal dysgenesis 30.2 C2orf80 DHH DMRT1 MAP3K1 NR0B1 NR5A1
10 hermaphroditism 30.1 SOX9 SRY
11 androgen insensitivity syndrome 29.9 NR5A1 SHBG SRY
12 complete androgen insensitivity syndrome 29.8 SHBG SRY
13 46,xy partial gonadal dysgenesis 29.3 DHH MAP3K1 NR0B1 NR5A1 SOX9 SRY
14 46,xy sex reversal 3 12.8
15 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 12.8
16 46,xy sex reversal 6 12.8
17 46,xy sex reversal 7 12.8
18 46,xy sex reversal 2 12.8
19 46,xy sex reversal 5 12.8
20 46,xy sex reversal 9 12.8
21 46,xy sex reversal 4 12.8
22 46,xy sex reversal 8 12.7
23 46,xy sex reversal 10 12.7
24 campomelic dysplasia 11.6
25 chondrodysplasia-pseudohermaphroditism syndrome 11.4
26 genitopalatocardiac syndrome 11.3
27 graves' disease 10.3
28 wilms tumor 6 10.2
29 endometrial cancer 10.2
30 embryonal carcinoma 10.2
31 choriocarcinoma 10.2
32 hypertrophic cardiomyopathy 10.2
33 swyer-james syndrome 10.2
34 nephrotic syndrome 10.1
35 in situ carcinoma 10.1
36 alternating hemiplegia of childhood 10.1 NR0B1 NR5A1 SRY
37 gonadal disease 10.1 NR0B1 NR5A1 SHBG SRY
38 pseudohermaphroditism 10.0 NR5A1 SRY WT1
39 46,xx sex reversal 1 10.0 NR0B1 NR5A1 SOX3 SOX9 SRY
40 persistent mullerian duct syndrome 10.0 NR5A1 SOX9 SRY WT1
41 male reproductive organ benign neoplasm 10.0 NR5A1 WT1
42 adrenal cortical hypofunction 10.0 CYP11A1 NR0B1 NR5A1
43 encephalitis 10.0
44 cryptorchidism, unilateral or bilateral 10.0 NR5A1 SHBG SRY WT1
45 ovarian benign neoplasm 10.0 SRY STAR
46 diaphragmatic hernia, congenital 10.0
47 craniosynostosis 10.0
48 nephrocalcinosis 10.0
49 dysgerminoma 10.0
50 wilms tumor 1 9.9 NR0B1 NR5A1 SRY 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 hypogonadotrophic hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000044
2 polycystic ovaries 59 32 hallmark (90%) Very frequent (99-80%) HP:0000147
3 male pseudohermaphroditism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000037
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 CBX2 CYP11A1 DHH DMRT1 DMRT2 NR0B1

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, Breast, Testis, Adrenal Gland

Publications for 46 Xy Gonadal Dysgenesis

Articles related to 46 Xy Gonadal Dysgenesis:

(show top 50) (show all 120)
# Title Authors Year
1
Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating I^-catenin. ( 29095481 )
2018
2
Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review. ( 29471294 )
2018
3
Twin gestation in a Swyer syndrome patient with superimposed pre-eclampsia. ( 29421927 )
2018
4
A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome. ( 29886504 )
2018
5
Unexpected diagnosis of stage IIA dysgerminoma in streak gonad in a patient with Swyer syndrome: a case report. ( 29084462 )
2018
6
Sensorineural hearing loss in a patient with Swyer syndrome. ( 29200406 )
2018
7
Familial Swyer syndrome: a rare genetic entity. ( 29069951 )
2018
8
Dysgerminoma and Gonadoblastoma with Para-aortic Lymph Node Metastasis in a Patient with Swyer Syndrome. ( 28748865 )
2017
9
CRISPR/Cas9-mediated simultaneous knockout of Dmrt1 and Dmrt3 does not recapitulate the 46,XY gonadal dysgenesis observed in 9p24.3 deletion patients. ( 28956011 )
2017
10
Swyer Syndrome With Gonadoblastoma: A Clinicoradiological Approach. ( 28479759 )
2017
11
Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis: a rare presentation. ( 29746049 )
2017
12
Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization. ( 29190620 )
2017
13
A Case of Primary Amenorrhea with Swyer Syndrome. ( 29430160 )
2017
14
Novel Heterozygous Genetic Variants in Patients with 46,XY Gonadal Dysgenesis. ( 27711951 )
2017
15
Diagnostic challenges of bHCG interpretation following gonadectomy in a patient with Swyer syndrome. ( 28150379 )
2017
16
Dysgerminoma and gonadoblastoma in the course of Swyer syndrome. ( 28547971 )
2016
17
Tumor risk of children with 45,X/46,XY gonadal dysgenesis in relation to their clinical presentations: Further insights into the gonadal management. ( 27032613 )
2016
18
Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis. ( 27169744 )
2016
19
Evidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood. ( 27116846 )
2016
20
Imaging Findings in Dysgerminoma in a Case of 46 XY, Complete Gonadal Dysgenesis (Swyer syndrome). ( 27790550 )
2016
21
Mixed Germ Cell Tumour in a Case of Pure Gonadal Dysgenesis (Swyer Syndrome) - A Case Report. ( 26918227 )
2016
22
Rare successful pregnancy in a patient with Swyer Syndrome. ( 29629300 )
2016
23
A case of swyer syndrome associated with advanced gonadal dysgerminoma involving long survival. ( 25960730 )
2015
24
A germ cell tumor in a patient with Swyer syndrome with ambiguous genitalia. ( 26643315 )
2015
25
46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing. ( 25927242 )
2015
26
WT1 Deletion Leading to Severe 46,XY Gonadal Dysgenesis, Wilms Tumor and Gonadoblastoma: Case Report. ( 25613702 )
2015
27
The laparoscopic management of Swyer syndrome: Case series. ( 26692777 )
2015
28
Incidental gonadal tumors at the time of gonadectomy in women with swyer syndrome: a case series. ( 25532682 )
2015
29
Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis. ( 25813279 )
2015
30
Dysgerminoma on a gonadoblastoma in a patient with Swyer syndrome treated with single incision laparoscopic surgery. ( 24960113 )
2014
31
Swyer syndrome. ( 25314337 )
2014
32
Swyer Syndrome With Seminoma: Laparoscopic Bilateral Gonad Resection. ( 25460519 )
2014
33
Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report. ( 25153220 )
2014
34
Familial Swyer syndrome in two sisters with undeveloped uterus. ( 24832210 )
2014
35
Anti-Ma-associated encephalitis due to dysgerminoma in a woman with Swyer syndrome. ( 24711536 )
2014
36
Anti-Ma-associated encephalitis due to dysgerminoma in a woman with Swyer syndrome. ( 23486885 )
2013
37
Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform. ( 24055526 )
2013
38
Differentiating Swyer Syndrome and Complete Androgen Insensitivity Syndrome: A Diagnostic Dilemma. ( 24119655 )
2013
39
Swyer syndrome in a woman with pure 46, XY gonadal dysgenesis and a hypoplastic uterus. ( 25606286 )
2013
40
In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis. ( 23786321 )
2013
41
46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism. ( 22288726 )
2012
42
Bilateral dysgerminoma in a patient with a previous diagnosis of Swyer syndrome. ( 22176344 )
2012
43
46 XY gonadal dysgenesis in adulthood 'pitfalls of late diagnosis'. ( 22665403 )
2012
44
A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis. ( 22441105 )
2012
45
Swyer syndrome: a case report with literature review. ( 23478733 )
2012
46
Successful pregnancy in a Swyer syndrome patient with preexisting hypertension. ( 21782051 )
2011
47
Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (Swyer syndrome): a case report. ( 21929773 )
2011
48
A novel WT1 gene mutation in a patient with Wilms' tumor and 46, XY gonadal dysgenesis. ( 21384108 )
2011
49
Pregnancy in patient with Swyer syndrome. ( 21195397 )
2011
50
Swyer syndrome, 46,XY gonadal dysgenesis, a sex reversal disorder with dysgerminoma: a case report and literature review. ( 22268289 )
2011

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

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

# Name GO ID Score Top Affiliating Genes
1 nuclear transcription factor complex GO:0044798 8.8 SOX3 SOX9 SRY

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

(show all 20)
# 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 9.69 CYP11A1 NR0B1 STAR
3 sex differentiation GO:0007548 9.61 CBX2 DMRT1 SRY
4 tissue development GO:0009888 9.58 NR5A1 WT1
5 gonad development GO:0008406 9.58 NR0B1 WT1
6 adrenal gland development GO:0030325 9.58 NR0B1 NR5A1 WT1
7 hypothalamus development GO:0021854 9.57 NR0B1 SOX3
8 C21-steroid hormone biosynthetic process GO:0006700 9.56 CYP11A1 STAR
9 Leydig cell differentiation GO:0033327 9.55 DHH NR0B1
10 Sertoli cell development GO:0060009 9.54 DMRT1 SOX9
11 regulation of steroid biosynthetic process GO:0050810 9.54 DHH NR5A1 STAR
12 cellular response to gonadotropin stimulus GO:0071371 9.52 STAR WT1
13 Sertoli cell differentiation GO:0060008 9.5 DMRT1 NR0B1 SOX9
14 negative regulation of female gonad development GO:2000195 9.46 NR5A1 WT1
15 sex determination GO:0007530 9.46 NR0B1 NR5A1 SOX3 WT1
16 positive regulation of male gonad development GO:2000020 9.35 DMRT1 NR5A1 SOX9 SRY WT1
17 male sex determination GO:0030238 9.1 DHH DMRT1 NR0B1 NR5A1 SOX9 SRY
18 regulation of transcription, DNA-templated GO:0006355 10.1 DMRT1 DMRT2 NR0B1 NR5A1 SOX3 SOX9
19 positive regulation of transcription by RNA polymerase II GO:0045944 10.07 DMRT1 DMRT2 NR5A1 SOX9 SRY WT1
20 cell differentiation GO:0030154 10.02 CBX2 DMRT1 NR0B1 NR5A1 SOX3 SOX9

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 9.81 CBX2 DMRT1 DMRT2 NR0B1 NR5A1 SOX3
2 DNA-binding transcription factor activity GO:0003700 9.8 DMRT1 DMRT2 NR5A1 SOX9 SRY WT1
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.56 DMRT1 DMRT2 NR0B1 NR5A1 SOX3 SOX9
4 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.43 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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