MCID: SWY002
MIFTS: 41

Swyer Syndrome malady

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

Aliases & Classifications for Swyer Syndrome

About this section
Sources:
23Genetics Home Reference, 45NIH Rare Diseases, 47Novoseek, 51Orphanet, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Swyer Syndrome:

Name: Swyer Syndrome 45 23 47 51 65
Gonadal Dysgenesis, Xy Female Type 45 23
46,xy Complete Gonadal Dysgenesis 23 51
Gonadal Dysgenesis, 46,xy 23 65
46,xy Cgd 23 51
46, Xy Complete Gonadal Dysgenesis 45
 
46, Xy Pure Gonadal Dysgenesis 45
Pure Gonadal Dysgenesis 46,xy 23
46,xy Pure Gonadal Dysgenesis 51
Xy Pure Gonadal Dysgenesis 23
46,xy Sex Reversal 23
46, Xy Cgd 45

Characteristics:

Orphanet epidemiological data:

51
swyer syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet51 242
UMLS via Orphanet66 C2936694
ICD10 via Orphanet28 Q99.1
UMLS65 C2936694

Summaries for Swyer Syndrome

About this section
NIH Rare Diseases:45 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: Swyer Syndrome, also known as gonadal dysgenesis, xy female type, is related to 46 xy gonadal dysgenesis and 46,xy disorder of sex development and 46,xy complete gonadal dysgenesis, and has symptoms including abnormality of the testis, male pseudohermaphroditism and polycystic ovaries. An important gene associated with Swyer Syndrome is SOX9 (SRY-Box 9), and among its related pathways are Deactivation of the beta-catenin transactivating complex and Regulation of Androgen receptor activity. Affiliated tissues include ovary, testes and uterus, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

Genetics Home Reference:23 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 Swyer Syndrome

About this section

Diseases related to Swyer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 85)
idRelated DiseaseScoreTop Affiliating Genes
146 xy gonadal dysgenesis30.2DHH, DMRT1, MAP3K1, NR0B1, NR5A1, SOX9
246,xy disorder of sex development and 46,xy complete gonadal dysgenesis12.8
346xy sex reversal 612.3
446xy sex reversal 912.3
546xy sex reversal 312.3
646xy sex reversal 711.8
746xy sex reversal 111.5
8sry-related 46,xy dsd and 46,xy cgd11.5
9muscular atrophy10.4PRL, SRY
10testicular spermatocytic seminoma10.4SRY, TSPY1
11choriocarcinoma of the testis10.4PRL, SRY
12anorchia10.4
13testicular regression syndrome10.4
14nodular neuronal heterotopia10.3SOX9, SRY
15teratocarcinoma10.3SRY, TSPY1
16pseudohermaphroditism10.3SOX9, SRY
17hypogonadism10.3PRL, SRY
18atypical teratoid rhabdoid tumor10.3PRL, SRY
19anorectal atresia10.3NR5A1, SRY
20breast-ovarian cancer, familial, 210.3SOX9, SRY
21delayed sleep phase syndrome10.2SOX9, SRY
22nephrotic syndrome, type 410.2NR5A1, SRY
23retinitis10.2
24neuronitis10.2
25spinal and bulbar muscular atrophy of kennedy10.2NR5A1, SRY
26leiomyoma10.2PRL, SRY
27leptospirosis10.1NR5A1, PRL
28urinary schistosomiasis10.1NR5A1, PRL, SRY
2948,xxxy syndrome10.1NR5A1, SOX9, SRY
30short qt syndrome10.1NR5A1, SOX9, SRY
31meacham syndrome10.1NR5A1, SOX9, SRY
32schizophrenia10.1
33malaria10.1
34lung cancer10.1
35prostate cancer10.1
36breast cancer10.1
37retinoschisis10.1
38fabry disease10.1
39neuronal ceroid-lipofuscinoses10.1
40acute leukemia10.1
41hemangioma10.1
42leukemia10.1
43lissencephaly10.1
44oral squamous cell carcinoma10.1
45lymphoma10.1
46amblyopia10.1
47microphthalmia10.1
48hypochondriasis10.1
49suppurative thyroiditis10.1
50prostatitis10.1

Graphical network of the top 20 diseases related to Swyer Syndrome:



Diseases related to swyer syndrome

Symptoms for Swyer Syndrome

About this section

Symptoms:

 51
  • male pseudohermaphrodism/lack of virilisation
  • abnormal/polycystic ovaries
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • late puberty/hypogonadism/hypogenitalism
  • x-linked recessive inheritance

HPO human phenotypes related to Swyer Syndrome:

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 Swyer Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Swyer Syndrome

Genetic Tests for Swyer Syndrome

About this section

Anatomical Context for Swyer Syndrome

About this section

MalaCards organs/tissues related to Swyer Syndrome:

33
Ovary, Testes, Uterus, Skin, Testis, Breast, Cortex

Animal Models for Swyer Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Swyer Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.8CBX2, DHH, DMRT1, NR0B1, NR5A1, PRL
2MP:00053897.3CBX2, DHH, DMRT1, F8, NR0B1, NR5A1

Publications for Swyer Syndrome

About this section

Articles related to Swyer Syndrome:

(show all 45)
idTitleAuthorsYear
1
Transcriptional Regulation of SULT1C2 by Vitamin D Receptor in LS180 Human Colorectal Adenocarcinoma Cells. (27130351)
2016
2
Surgical intervention for feeding and nutrition difficulties in cerebral palsy: a systematic review. (23738903)
2014
3
Acute and chronic Staphylococcus epidermidis post-operative endophthalmitis: The importance of biofilm production. (25369889)
2014
4
Heterogeneous susceptibility of circulating SIV isolate capsids to HIV-interacting factors. (23883001)
2013
5
(18)F-FDG PET and PET/CT for the diagnosis of diabetic foot osteomyelitis. (23935335)
2013
6
Dramatic improvement of myotonia permanens with flecainide: a two-case report of a possible bench-to-bedside pharmacogenetics strategy. (23052413)
2013
7
Diagnostic and Statistical Manual criteria for insomnia related impairment in daytime functioning: polysomnographic correlates in older adults. (22721715)
2012
8
Pathogenesis of autoimmunity in common variable immunodeficiency. (22826712)
2012
9
The 3A protein from multiple picornaviruses utilizes the golgi adaptor protein ACBD3 to recruit PI4KIIII^. (22258260)
2012
10
Screening for hepatocellular carcinoma in acute intermittent porphyria. (21726304)
2011
11
Monocarboxylate transporter 4 (MCT4) and CD147 overexpression is associated with poor prognosis in prostate cancer. (21787388)
2011
12
Oxidative damage of mitochondrial DNA in diabetes and its protection by manganese superoxide dismutase. (20088710)
2010
13
Mucinous cystadenoma arising 3 years after ovarian-sparing surgery for mature teratoma in a child. (20713202)
2010
14
Genetic polymorphisms and expression of minisatellite mutations in a 3-generation population around the Semipalatinsk nuclear explosion test-site, Kazakhstan. (19656722)
2009
15
Shadows across mu-Star? Constitutively active mu-opioid receptors revisited. (19368530)
2009
16
CD45 down-regulates Lck-mediated CD44 signaling and modulates actin rearrangement in T cells. (18981123)
2008
17
Oxidation of diiron and triiron sulfurdithiolato complexes: mimics for the active site of [FeFe]-hydrogenase. (18972523)
2008
18
Anti-atherosclerotic effects of sirolimus on human vascular smooth muscle cells. (17322416)
2007
19
c-Met expression is regulated by Mitf in the melanocyte lineage. (16455654)
2006
20
Beta2-adrenoceptor polymorphisms and asthma from childhood to middle age in the British 1958 birth cohort: a genetic association study. (16935688)
2006
21
Complex autonomic dysfunction in cardiovascular, intensive care, and schizophrenic patients assessed by autonomic information flow. (17061934)
2006
22
Heparanase, hyaluronan, and CD44 in cancers: a breast carcinoma perspective. (17079438)
2006
23
Myeloperoxidase metabolizes thiocyanate in a reaction driven by nitric oxide. (16430221)
2006
24
Heart failure, oxidative stress and allopurinol. (16128162)
2005
25
Bullous lichen planus with nail involvement induced by hepatitis B vaccine in a child. (15689216)
2005
26
Novel KChIP2 isoforms increase functional diversity of transient outward potassium currents. (15107477)
2004
27
Adipocytokines and metabolic syndrome--molecular mechanism and clinical implication]. (15206145)
2004
28
Presynaptic proteins in the prefrontal cortex of patients with schizophrenia and rats with abnormal prefrontal development. (12931207)
2003
29
Unusual case of extradural choroid plexus papilloma of the sacral canal. Case report. (12120630)
2002
30
A common haplotype for the 677T thermolabile variant of the 5,10-methylenetetrahydrofolate reductase gene in thrombophilic patients and controls. (12442281)
2002
31
Bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease. (11485685)
2001
32
Platelet endothelial cell adhesion molecule-1 is a negative regulator of platelet-collagen interactions. (11520795)
2001
33
Idiopathic slow-transit constipation is not associated with mutations of the RET proto-oncogene or GDNF. (10859088)
2000
34
Inductive and inhibitory effects of non-ortho-substituted polychlorinated biphenyls on estrogen metabolism and human cytochromes P450 1A1 and 1B1. (10403516)
1999
35
Significance of heterogeneous nuclear ribonucleoprotein B1 as a new early detection marker for oral squamous cell carcinoma. (10665654)
1999
36
Breast cancer associated mucin: a review. (9269507)
1997
37
Gastric outlet obstruction: unusual ultrasonographic findings in the pyloric and antral regions. (8577514)
1995
38
Self-assembly of collagen I from a proband homozygous for a mutation that substituted serine for glycine at position 661 in the alpha 2(I) chain. Possible relationship between the effects of mutations on critical concentration and the severity of the phenotype. (8157695)
1994
39
An ACTH-secreting bronchial carcinoid: presence of corticotropin-releasing hormone, neuropeptide Y and endothelin-1 in the tumor tissue. (8383906)
1993
40
Case report: bacillary angiomatosis with massive visceral lymphadenopathy. (8213892)
1993
41
Nonimmune hydrops fetalis and fetal congenital syphilis. A case report. (1538364)
1992
42
Cytoskeletal architecture of the matrix cell and neuroblast in the neural tube of the chick embryo. (1586571)
1992
43
False negative mitral valve echo in a case of Lutembacher's syndrome. (529187)
1979
44
45

Variations for Swyer Syndrome

About this section

Expression for genes affiliated with Swyer Syndrome

About this section
Search GEO for disease gene expression data for Swyer Syndrome.

Pathways for genes affiliated with Swyer Syndrome

About this section

Pathways related to Swyer Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.8SOX9, SRY
29.6NR0B1, SRY

GO Terms for genes affiliated with Swyer Syndrome

About this section

Biological processes related to Swyer Syndrome according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1Sertoli cell differentiationGO:006000810.3DMRT1, SOX9
2male gonad developmentGO:000858410.2DMRT1, SOX9
3sex determinationGO:000753010.1NR0B1, SRY
4intracellular receptor signaling pathwayGO:003052210.0NR0B1, NR5A1
5male sex determinationGO:00302389.8NR0B1, SOX9, SRY
6sex differentiationGO:00075489.8DMRT1, TSPY1
7spermatogenesisGO:00072839.1NR0B1, SOX9, TSPY1
8cell differentiationGO:00301548.7CBX2, NR0B1, NR5A1, SOX9, SRY
9negative regulation of transcription from RNA polymerase II promoterGO:00001228.5CBX2, DMRT1, NR0B1, SOX9

Sources for Swyer Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet