TS
MCID: TRN020
MIFTS: 66

Turner Syndrome (TS) malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories
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Summaries for Turner Syndrome

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 65Wikipedia, 33MalaCards
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MedlinePlus:34 Turner syndrome is a genetic disorder that affects a girl's development. the cause is a missing or incomplete x chromosome. girls who have it are short, and their ovaries don't work properly. other physical features typical of turner syndrome are short, "webbed" neck with folds of skin from tops of shoulders to sides of neck low hairline in the back low-set ears swollen hands and feet most women with turner syndrome are infertile. they are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis, and thyroid problems. doctors diagnose turner syndrome based on symptoms and a genetic test. sometimes it is found in prenatal testing. there is no cure for turner syndrome, but there are some treatments for the symptoms. growth hormone often helps girls reach heights that are close to average. hormone replacement can help start sexual development. assisted reproduction techniques can help some women with turner syndrome get pregnant. nih: national institute of child health and human development

MalaCards: Turner Syndrome, also known as monosomy x, is related to swyer syndrome and short stature, and has symptoms including short stature/dwarfism/nanism, webbed neck/pterygium colli and atrial septal defect/interauricular communication. An important gene associated with Turner Syndrome is HDAC8 (histone deacetylase 8). The compounds progestins and raloxifene have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and skin.

Genetics Home Reference:21 Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile). A small percentage of females with Turner syndrome retain normal ovarian function through young adulthood.

NIH Rare Diseases:43 Turner syndrome is a chromosomal disorder that usually affects development in females. symptoms differ among individuals, but may include shortened stature, infertility, extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects, and kidney problems. females without turner syndrome have 2 full x chromosomes in each of their cells. an individual with turner syndrome is missing all or part of one x chromosome. although it is genetic, it is typically not inherited. treatment may include growth hormone therapy for short stature and estrogen therapy to help stimulate sexual development. assisted reproduction techniques can help some women with turner syndrome become pregnant. last updated: 6/18/2012

Wikipedia:65 Turner syndrome or Ullrich?Turner syndrome (also known as \"Gonadal dysgenesis\"), 45,X, encompasses... more...

Aliases & Classifications for Turner Syndrome

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8Disease Ontology, 65Wikipedia, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 49Orphanet, 34MedlinePlus, 62UMLS, 35MeSH, 58SNOMED-CT, 40NCIt, 36MESH via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 26ICD10 via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

49
turner syndrome:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

turner syndrome 8 65 43 21 10 49 34 62
monosomy x 8 65 21 49
bonnevie-ullrich syndrome 8 65 62
ullrich-turner syndrome 65 43 21
turner's syndrome 65 22 21
gonadal dysgenesis 43 62
45,x 65 21
ts 65 21
gonadal dysgenesis turner type 43
schereshevkii turner syndrome 43
bonnevie-ullrich syndrome nos 8
gonadal dysgenesis - turner 8
bonnevie-ulrich syndrome 43
chromosome x monosomy x 43
turner's syndrome nos 8
turner varny syndrome 43
monosomy x syndrome 8
45,x/46,xx syndrome 49
turners syndrome 45
karyotype 45, x 8
45, x syndrome 43
45,x syndrome 49
xo syndrome 8


External Ids:

Disease Ontology8 DOID:3491
MESH via Orphanet36 D014424
SNOMED-CT via Orphanet59 38804009
UMLS via Orphanet63 C0041408
ICD10 via Orphanet26 Q96.0, Q96.1, Q96.2 Q96.3, Q96.4, Q96.8, Q96.9, more
ICD1025 Q96.0

Related Diseases for Turner Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Turner Syndrome family:

Pseudo-Turner Syndrome Turner Syndrome Due to Structural X Chromosome Anomalies

Diseases related to Turner Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 288)
idRelated DiseaseScoreTop Affiliating Genes
1swyer syndrome31.3SRY
2short stature30.7SRY, SHOX, GH1
3gonadoblastoma30.6TSPY1, SRY
4dysgerminoma30.3TSPY1, SRY
5dwarfism30.1GH1, SHOX
6hypothyroidism30.1GH1, SERPINA7
7parsonage turner syndrome10.8
846 xy gonadal dysgenesis10.6
9colorectal cancer10.6
10noonan syndrome10.5
11anorexia nervosa10.5
12denys-drash syndrome10.5
13seminoma10.4
1446,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.4
15wilms tumor10.4
16gonadal dysgenesis, xx type10.4
17ovarian dysgenesis 110.4
1845,x/46,xy mixed gonadal dysgenesis10.4
19growth hormone deficiency10.4
20hypogonadism10.4
21gonadal dysgenesis xy type associated anomalies10.4
22mayer-rokitansky-kuster-hauser syndrome10.4
23neuritis10.4
24turner syndrome due to structural x chromosome anomalies10.4
25hypogonadotropism10.3
26androgen insensitivity syndrome10.3
27frasier syndrome10.3
2846 xx gonadal dysgenesis10.3
29nephrotic syndrome10.3
3046xy partial gonadal dysgenesis, with minifascicular neuropathy10.3
31lung fibrosis - immunodeficiency - 46,xx gonadal dysgenesis10.3
32gonadal dysgenesis10.3
33thyroiditis10.3
34aneurysm10.3
35gilles de la tourette syndrome10.3
36breast cancer10.3
37learning disability10.3
38premature menopause10.2
39pseudopseudohypoparathyroidism10.2
40endometrial adenocarcinoma10.2
41inflammatory bowel disease10.2
42peripheral neuropathy10.2
4346,xx gonadal dysgenesis epibulbar dermoid10.2
44anorchia10.2
45germ cell tumors10.2
4646xy sex reversal 610.2
4746xy sex reversal 310.2
48neurofibromatosis10.2
49celiac disease10.2
50premature ovarian failure10.2

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



Diseases related to turner syndrome

Symptoms for Turner Syndrome

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49Orphanet
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Symptoms:

49 (show all 26)
  • short stature/dwarfism/nanism
  • webbed neck/pterygium colli
  • atrial septal defect/interauricular communication
  • abnormal scarring/cheloids/hypertrophic scars
  • cystic hygroma
  • wide rib cage/thorax
  • lymphedema
  • ectopic/horseshoe/fused kidneys
  • metacarpal anomalies/archibald's sign
  • late puberty/hypogonadism/hypogenitalism
  • delayed bone age
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • pigmented naevi/naevus pigmentosus/lentigo
  • ptosis
  • abnormally placed nipples
  • hypoplastic/absent nipples
  • precocious menopause/secondary amenorrhea
  • thin/hypoplastic toenails
  • thin/hypoplastic/hyperconvex fingernails
  • abnormal dermatoglyphics
  • total/partial monosomy/deletion
  • abnormal/polycystic ovaries
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • low hair line (back)
  • cubitus valgus
  • intellectual deficit/mental/psychomotor retardation/learning disability

Drugs & Therapeutics for Turner Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Turner Syndrome

Search NIH Clinical Center for Turner Syndrome

Genetic Tests for Turner Syndrome

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Sources:
22GTR
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Genetic tests related to Turner Syndrome:

id Genetic test Affiliating Genes
1 Turner Syndrome22

Anatomical Context for Turner Syndrome

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33MalaCards
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MalaCards organs/tissues related to Turner Syndrome:

33
Kidney, Testes, Skin, Ovary, Thyroid, Heart, Bone, Liver, Eye, Brain, Endothelial, Adrenal gland, Cortex, Uterus, Tongue, Fetal liver, Skeletal muscle, Monocytes, Small intestine, Pituitary

Animal Models for Turner Syndrome or affiliated genes

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Publications for Turner Syndrome

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52PubMed
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Articles related to Turner Syndrome:

(show top 50)    (show all 644)
idTitleAuthorsYear
1
Focal limbal stem cell deficiency in turner syndrome: report of two patients and review of the literature. (24342891)
2014
2
Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations. (23936059)
2013
3
Turner Syndrome and apparent absent uterus: a case report and review of the literature. (23443264)
2013
4
Lessons from a patient with Turner syndrome. (23449929)
2013
5
Liver involvement in Turner syndrome. (23121401)
2013
6
Obscure gastrointestinal bleeding and Turner syndrome. (23368930)
2013
7
An evaluation of early cardiometabolic risk factors in children and adolescents with Turner syndrome. (23106295)
2013
8
Body composition in Egyptian Turner syndrome girls. (24019614)
2013
9
Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development? (21793702)
2012
10
Successful deployment of an iliac limb graft to repair acute aortic rupture after balloon aortoplasty of recoarctation in a child with Turner syndrome. (21681538)
2012
11
Cognition and behavior in Turner syndrome: a brief review. (22946281)
2012
12
Turner syndrome: contemporary thoughts and reproductive issues. (21969268)
2011
13
Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone. (21619701)
2011
14
Pregnancy rate and outcome in Swedish women with Turner syndrome. (21256486)
2011
15
Phrenic nerve palsy and Parsonage-Turner syndrome. (21718875)
2011
16
Abnormalities of the major intrathoracic arteries in Turner syndrome as revealed by magnetic resonance imaging. (20307329)
2010
17
Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome. (20148908)
2010
18
Thoracic aortopathy in Turner syndrome and the influence of bicuspid aortic valves and blood pressure: a CMR study. (20222980)
2010
19
Screening for celiac disease among patients with Turner syndrome in BrasA-lia, DF, midwest region of Brazil. (21140084)
2010
20
Over-expression of MA1llerian inhibiting substance mRNA in the Turner syndrome ovary. (19940443)
2009
21
Androgen replacement therapy in Turner syndrome: a pilot study. (19846743)
2009
22
Adult height in Turner Syndrome girls after long-term growth hormone treatment. (19770097)
2009
23
Long-term follow-up of GH-treated girls with Turner syndrome: metabolic consequences. (19506392)
2009
24
Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature. (21731587)
2009
25
Picture of the month--quiz case. Parsonage-Turner Syndrome. (19255397)
2009
26
Long-term hormone replacement therapy preserves bone mineral density in Turner syndrome. (19447901)
2009
27
Turner syndrome. (18593751)
2008
28
Turner syndrome: searching for better outcomes. (18438570)
2008
29
Genotype, phenotype, and karyotype correlation in the XO mouse model of Turner Syndrome. (18499648)
2008
30
Moving toward an understanding of hormone replacement therapy in adolescent girls: looking through the lens of Turner syndrome. (18574218)
2008
31
Hearing loss in Turner syndrome: results of a multicentric study. (18997489)
2008
32
Absence of autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease in girls and women with Turner syndrome. (18088406)
2007
33
Diabetes mellitus and Turner syndrome. (18333365)
2007
34
Ruptured omphalocele with extracorporeal intestines mimicking gastroschisis in a fetus with Turner syndrome. (17694577)
2007
35
Metabolic effects of oral versus transdermal estrogen in growth hormone-treated girls with turner syndrome. (17711924)
2007
36
Mathematics learning disability in girls with Turner syndrome or fragile X syndrome. (16500739)
2006
37
Body composition is distinctly altered in Turner syndrome: relations to glucose metabolism, circulating adipokines, and endothelial adhesion molecules. (16990658)
2006
38
The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. (16227037)
2005
39
Verrucous carcinoma of the vulva in Turner syndrome. (14751191)
2004
40
Ovarian mucinous cystadenoma in a female with Turner syndrome. (15448783)
2004
41
Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX. (12960152)
2003
42
Detection of Y-specific sequences in 122 patients with Turner syndrome: nested PCR is not a reliable method. (11840486)
2002
43
Parsonage-Turner syndrome after total-hip arthroplasty. (11402420)
2001
44
Turner syndrome and ganglioneuroma. (10695831)
2000
45
A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism. (10843173)
2000
46
Autoimmune thyroiditis in children with Turner syndrome. (11155770)
2000
47
Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome. (10599728)
1999
48
Effects of long-term growth hormone therapy on adrenal steroidogenesis in Turner syndrome. (9568804)
1998
49
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome. (9212186)
1997
50
Multiple epiphyseal dysplasia and Turner syndrome variant (45,XO/46,X ring) associated with advanced maternal age. (890113)
1977

Variations for Turner Syndrome

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Expression for genes affiliated with Turner Syndrome

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Turner Syndrome

Search GEO for disease gene expression data for Turner Syndrome.

Pathways for genes affiliated with Turner Syndrome

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Compounds for genes affiliated with Turner Syndrome

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45Novoseek, 51PharmGKB, 29IUPHAR, 11DrugBank, 61Tocris Bioscience, 24HMDB
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Compounds related to Turner Syndrome according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1progestins459.4SERPINA7, GH1
2raloxifene45 51 29 1112.4GH1, SERPINA7
3triiodothyronine459.3SERPINA7, GH1
4corticosterone45 61 2411.3GH1, SERPINA7
5estrone45 29 24 1112.2GH1, SERPINA7
6adenine45 24 1111.1SRY, GH1
7agarose459.1SRY, SERPINA7
8thyroxine45 2410.1GH1, SERPINA7
9dihydrotestosterone45 29 24 1112.0GH1, SRY
10estradiol45 24 1110.9GH1, SRY, SERPINA7
11leucine458.8GH1, SRY, SERPINA7
12testosterone45 61 24 1111.7GH1, SRY, SERPINA7
13steroid458.5GH1, SRY, SERPINA7, SHOX

GO Terms for genes affiliated with Turner Syndrome

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16Gene Ontology
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Biological processes related to Turner Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sex differentiationGO:0075489.5SRY, TSPY1

Products for genes affiliated with Turner Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Turner Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet