MCID: TRN020
MIFTS: 58

Turner Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories

Aliases & Classifications for Turner Syndrome

About this section
Sources:
9Disease Ontology, 63Wikipedia, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 32MedlinePlus, 60UMLS, 55SNOMED-CT, 38NCIt, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet, 25ICD10
See all sources

Turner Syndrome, Aliases & Descriptions:

Name: Turner Syndrome 9 63 41 21 11 47 32 60
Monosomy X 9 63 21 47
Bonnevie-Ullrich Syndrome 9 63 60
Ullrich-Turner Syndrome 63 41 21
45,x/46,xx Syndrome 41 47
Gonadal Dysgenesis 41 60
Turner's Syndrome 63 21
Turners Syndrome 43 22
45,x Syndrome 41 47
45,x 63 21
Ts 63 21
Gonadal Dysgenesis Turner Type 41
 
Schereshevkii Turner Syndrome 41
Bonnevie-Ullrich Syndrome Nos 9
Gonadal Dysgenesis - Turner 9
Bonnevie-Ulrich Syndrome 41
Gonadal Dysgenesis, 45,x 60
Chromosome X Monosomy X 41
Turner's Syndrome Nos 9
Turner Varny Syndrome 41
Monosomy X Syndrome 9
Karyotype 45, X 9
45, X Syndrome 41
Xo Syndrome 9


Classifications:



Characteristics (Orphanet epidemiological data):

47
turner syndrome:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (Austria),1-9/100000 (Belgium),1-5/10000 (Bulgaria),1-9/100000 (Croatia),1-5/10000 (Denmark),1-9/100000 (France),1-9/100000 (Germany),1-9/100000 (Hungary),1-9/100000 (Ireland),1-9/100000 (Italy),1-9/100000 (Malta),1-5/10000 (Netherlands),1-9/100000 (Norway),1-9/100000 (Poland),1-9/100000 (Portugal),1-9/100000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-9/100000 (Ukraine); Age of onset: Antenatal,Childhood,Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:3491
Orphanet47 881, 99226
ICD10 via Orphanet26 Q96.0, Q96.1, Q96.2 Q96.3, Q96.4, Q96.8, Q96.9, more
UMLS via Orphanet61 C0041408
MESH via Orphanet34 D014424
ICD1025 Q96, Q96.0

Summaries for Turner Syndrome

About this section


MedlinePlus:32 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 based summary: Turner Syndrome, also known as monosomy x, is related to swyer syndrome and gonadoblastoma, and has symptoms including polycystic ovaries, abnormality of the aorta and low posterior hairline. 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, ovary and thyroid.

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:41 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:63 Turner syndrome (TS) also known as Ullrich?Turner syndrome, gonadal dysgenesis, and 45,X, is a condition... more...

Related Diseases for Turner Syndrome

About this section

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 Suite gene sharing:

(show top 50)    (show all 283)
idRelated DiseaseScoreTop Affiliating Genes
1swyer syndrome31.8SRY
2gonadoblastoma30.9TSPY1, SRY
3dysgerminoma30.5TSPY1, SRY
4dwarfism30.2GH1, SHOX
5hypothyroidism29.9GH1, SERPINA7
6parsonage turner syndrome10.9
746 xy gonadal dysgenesis10.7
846,xy partial gonadal dysgenesis10.7
9colorectal cancer10.6
10denys-drash syndrome10.5
11anorexia nervosa10.5
1246xy partial gonadal dysgenesis, with minifascicular neuropathy10.5
1345,x/46,xy mixed gonadal dysgenesis10.5
14noonan syndrome 110.5
15ovarian dysgenesis 110.5
1646,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.5
17frasier syndrome10.5
18wilms tumor10.5
19perrault syndrome10.5
2046 xx gonadal dysgenesis10.5
2146,xx testicular disorder of sex development10.5
22thyroiditis10.4
23growth hormone deficiency10.4
24hypogonadism10.4
25seminoma10.4
26gonadal dysgenesis xy type associated anomalies10.4
27neuritis10.4
28premature ovarian failure10.4
29gonadal dysgenesis10.4
30turner syndrome due to structural x chromosome anomalies10.4
31androgen insensitivity10.4
32hypogonadotropism10.4
33nephrotic syndrome10.4
3446,xx gonadal dysgenesis epibulbar dermoid10.4
35mayer-rokitansky-kuster-hauser syndrome10.4
3646,xy gonadal dysgenesis - motor and sensory neuropathy10.4
37lung fibrosis - immunodeficiency - 46,xx gonadal dysgenesis10.4
38wilson-turner syndrome10.3
39aneurysm10.3
40breast cancer10.3
41gilles de la tourette syndrome10.3
42horseshoe kidney10.3
43perrault syndrome 110.3
44pseudopseudohypoparathyroidism10.3
4546xy sex reversal 110.3
46endometrial adenocarcinoma10.3
47peripheral neuropathy10.3
48leri-weill dyschondrosteosis10.3
49celiac disease10.3
50neurofibromatosis, type 110.3

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



Diseases related to turner syndrome

Symptoms for Turner Syndrome

About this section

Symptoms:

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

HPO human phenotypes related to Turner Syndrome:

(show all 23)
id Description Frequency HPO Source Accession
1 polycystic ovaries hallmark (90%) HP:0000147
2 abnormality of the aorta hallmark (90%) HP:0001679
3 low posterior hairline hallmark (90%) HP:0002162
4 cubitus valgus hallmark (90%) HP:0002967
5 short stature hallmark (90%) HP:0004322
6 aplasia/hypoplasia of the nipples hallmark (90%) HP:0006709
7 enlarged thorax hallmark (90%) HP:0100625
8 webbed neck typical (50%) HP:0000465
9 secondary amenorrhea typical (50%) HP:0000869
10 melanocytic nevus typical (50%) HP:0000995
11 abnormality of the metacarpal bones typical (50%) HP:0001163
12 abnormality of the fingernails typical (50%) HP:0001231
13 hypoplastic toenails typical (50%) HP:0001800
14 abnormal dermatoglyphics typical (50%) HP:0007477
15 abnormal localization of kidney typical (50%) HP:0100542
16 cystic hygroma occasional (7.5%) HP:0000476
17 ptosis occasional (7.5%) HP:0000508
18 atypical scarring of skin occasional (7.5%) HP:0000987
19 lymphedema occasional (7.5%) HP:0001004
20 defect in the atrial septum occasional (7.5%) HP:0001631
21 delayed skeletal maturation occasional (7.5%) HP:0002750
22 reduced bone mineral density occasional (7.5%) HP:0004349
23 cognitive impairment occasional (7.5%) HP:0100543

Drugs & Therapeutics for Turner Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Turner Syndrome

Search NIH Clinical Center for Turner Syndrome

Genetic Tests for Turner Syndrome

About this section

Genetic tests related to Turner Syndrome:

id Genetic test Affiliating Genes
1 Turner Syndrome22

Anatomical Context for Turner Syndrome

About this section

MalaCards organs/tissues related to Turner Syndrome:

31
Kidney, Ovary, Thyroid, Skin, Testes, Heart, Bone, Breast, Liver, Eye, Brain, Cortex, Adrenal gland, Uterus, Endothelial, Pituitary, Skeletal muscle, Small intestine, Monocytes, Tongue, Fetal liver

Animal Models for Turner Syndrome or affiliated genes

About this section

Publications for Turner Syndrome

About this section

Articles related to Turner Syndrome:

(show top 50)    (show all 696)
idTitleAuthorsYear
1
Therapeutic effects of growth hormone combined with low-dose stanozolol on growth velocity and final height of girls with Turner syndrome. (25824243)
2015
2
Aortopathies in Turner syndrome -- new strategies for evaluation and treatment. (25754283)
2015
3
Increased arterial stiffness in young normotensive patients with Turner syndrome: associations with vascular biomarkers. (25284268)
2014
4
Focal limbal stem cell deficiency in turner syndrome: report of two patients and review of the literature. (24342891)
2014
5
Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations. (23936059)
2013
6
Turner Syndrome and apparent absent uterus: a case report and review of the literature. (23443264)
2013
7
Lessons from a patient with Turner syndrome. (23449929)
2013
8
Liver involvement in Turner syndrome. (23121401)
2013
9
Obscure gastrointestinal bleeding and Turner syndrome. (23368930)
2013
10
An evaluation of early cardiometabolic risk factors in children and adolescents with Turner syndrome. (23106295)
2013
11
Body composition in Egyptian Turner syndrome girls. (24019614)
2013
12
Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development? (21793702)
2012
13
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
14
Cognition and behavior in Turner syndrome: a brief review. (22946281)
2012
15
Turner syndrome: contemporary thoughts and reproductive issues. (21969268)
2011
16
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
17
Pregnancy rate and outcome in Swedish women with Turner syndrome. (21256486)
2011
18
Abnormalities of the major intrathoracic arteries in Turner syndrome as revealed by magnetic resonance imaging. (20307329)
2010
19
Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome. (20148908)
2010
20
Thoracic aortopathy in Turner syndrome and the influence of bicuspid aortic valves and blood pressure: a CMR study. (20222980)
2010
21
Screening for celiac disease among patients with Turner syndrome in BrasA-lia, DF, midwest region of Brazil. (21140084)
2010
22
Over-expression of MA1llerian inhibiting substance mRNA in the Turner syndrome ovary. (19940443)
2009
23
Expanding the differential of shoulder pain: Parsonage-Turner syndrome. (19706831)
2009
24
Androgen replacement therapy in Turner syndrome: a pilot study. (19846743)
2009
25
Adult height in Turner Syndrome girls after long-term growth hormone treatment. (19770097)
2009
26
Long-term follow-up of GH-treated girls with Turner syndrome: metabolic consequences. (19506392)
2009
27
Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature. (21731587)
2009
28
Picture of the month--quiz case. Parsonage-Turner Syndrome. (19255397)
2009
29
Turner syndrome. (18593751)
2008
30
Turner syndrome: searching for better outcomes. (18438570)
2008
31
Genotype, phenotype, and karyotype correlation in the XO mouse model of Turner Syndrome. (18499648)
2008
32
Moving toward an understanding of hormone replacement therapy in adolescent girls: looking through the lens of Turner syndrome. (18574218)
2008
33
Hearing loss in Turner syndrome: results of a multicentric study. (18997489)
2008
34
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
35
Diabetes mellitus and Turner syndrome. (18333365)
2007
36
Ruptured omphalocele with extracorporeal intestines mimicking gastroschisis in a fetus with Turner syndrome. (17694577)
2007
37
Mathematics learning disability in girls with Turner syndrome or fragile X syndrome. (16500739)
2006
38
Body composition is distinctly altered in Turner syndrome: relations to glucose metabolism, circulating adipokines, and endothelial adhesion molecules. (16990658)
2006
39
The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. (16227037)
2005
40
Verrucous carcinoma of the vulva in Turner syndrome. (14751191)
2004
41
Ovarian mucinous cystadenoma in a female with Turner syndrome. (15448783)
2004
42
Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX. (12960152)
2003
43
Detection of Y-specific sequences in 122 patients with Turner syndrome: nested PCR is not a reliable method. (11840486)
2002
44
Parsonage-Turner syndrome after total-hip arthroplasty. (11402420)
2001
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

About this section

Expression for genes affiliated with Turner Syndrome

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

Pathways for genes affiliated with Turner Syndrome

About this section

Compounds for genes affiliated with Turner Syndrome

About this section

Compounds related to Turner Syndrome according to GeneCards Suite gene sharing:

(show all 13)
idCompoundScoreTop Affiliating Genes
1progestins439.4GH1, SERPINA7
2raloxifene43 49 28 1212.4SERPINA7, GH1
3triiodothyronine439.3GH1, SERPINA7
4corticosterone43 59 2411.3SERPINA7, GH1
5estrone43 28 24 1212.2GH1, SERPINA7
6adenine43 24 1211.1SRY, GH1
7agarose439.1SRY, SERPINA7
8thyroxine43 2410.1GH1, SERPINA7
9dihydrotestosterone43 28 24 1212.0SRY, GH1
10estradiol43 24 1210.9SRY, GH1, SERPINA7
11leucine438.8SERPINA7, SRY, GH1
12testosterone43 59 24 1211.7SRY, SERPINA7, GH1
13steroid438.5GH1, SRY, SERPINA7, SHOX

GO Terms for genes affiliated with Turner Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1sex differentiationGO:00075489.5SRY, TSPY1

Products for genes affiliated with Turner Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Turner Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet