TS
MCID: TRN020
MIFTS: 67

Turner Syndrome (TS) malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories
Download this MalaCard

Summaries for Turner Syndrome

About this section


Fully expand this MalaCard
MedlinePlus:33 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 ullrich-turner syndrome, is related to swyer syndrome and gonadoblastoma, and has symptoms including wide rib cage/thorax, abnormally placed nipples and hypoplastic/absent nipples. 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 testes.

NIH Rare Diseases:42 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

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.

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

Aliases & Classifications for Turner Syndrome

About this section
Sources:
42NIH Rare Diseases, 62UMLS, 8Disease Ontology, 65Wikipedia, 21Genetics Home Reference, 10DISEASES, 48Orphanet, 33MedlinePlus, 22GTR, 44Novoseek, 57SNOMED-CT, 34MeSH, 39NCIt, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet, 25ICD10
See all sources

Turner Syndrome, Aliases & Descriptions:

Name: Turner Syndrome 8 65 42 21 10 48 33 62
Ullrich-Turner Syndrome 65 42 21 62
Monosomy X 8 65 21 48
Bonnevie-Ullrich Syndrome 8 65 62
Turner's Syndrome 65 22 21
Monosomy X Syndrome 8 62
Gonadal Dysgenesis 42 62
45,x 65 21
Ts 65 21
Gonadal Dysgenesis Turner Type 42
Schereshevkii Turner Syndrome 42
Bonnevie-Ullrich Syndrome Nos 8
 
Gonadal Dysgenesis - Turner 8
Bonnevie-Ulrich Syndrome 42
Chromosome X Monosomy X 42
Turner-Varny Syndrome 62
Turner's Syndrome Nos 8
Turner Varny Syndrome 42
45,x/46,xx Syndrome 48
Turners Syndrome 44
Karyotype 45, X 8
45, X Syndrome 42
45,x Syndrome 48
Xo Syndrome 8


Classifications:



Characteristics (Orphanet epidemiological data):

48
turner syndrome:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

Disease Ontology8 DOID:3491
ICD10 via Orphanet26 Q96.0, Q96.1, Q96.2 Q96.3, Q96.4, Q96.8, Q96.9, more
UMLS via Orphanet63 C0041408
MESH via Orphanet35 D014424
ICD1025 Q96.0

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/GeneDecks gene sharing:

(show top 50)    (show all 288)
idRelated DiseaseScoreTop Affiliating Genes
1swyer syndrome31.7SRY
2gonadoblastoma30.8TSPY1, SRY
3short stature30.5SRY, SHOX, GH1
4dysgerminoma30.5TSPY1, SRY
5dwarfism30.2GH1, SHOX
6hypothyroidism29.9GH1, SERPINA7
7parsonage turner syndrome10.8
846 xy gonadal dysgenesis10.6
9noonan syndrome10.6
10colorectal cancer10.6
11anorexia nervosa10.5
12hermaphroditism10.5
13denys-drash syndrome10.5
1445,x/46,xy mixed gonadal dysgenesis10.5
15wilms tumor10.5
16seminoma10.5
1746,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.5
18gonadal dysgenesis, xx type10.5
19ovarian dysgenesis 110.5
20frasier syndrome10.4
21hypogonadism10.4
22gonadal dysgenesis xy type associated anomalies10.4
23mayer-rokitansky-kuster-hauser syndrome10.4
24mental retardation10.4
25neuritis10.4
26thyroiditis10.4
27growth hormone deficiency10.4
28turner syndrome due to structural x chromosome anomalies10.4
29gastric cancer10.3
30hypogonadotropism10.3
3146 xx gonadal dysgenesis10.3
32androgen insensitivity syndrome10.3
33nephrotic syndrome10.3
34anorchia10.3
35germ cell tumors10.3
3646xy partial gonadal dysgenesis, with minifascicular neuropathy10.3
3746xy sex reversal 710.3
3846xy sex reversal 2, dosage-sensitive10.3
39lung fibrosis - immunodeficiency - 46,xx gonadal dysgenesis10.3
40premature ovarian failure10.3
41gonadal dysgenesis10.3
42aneurysm10.3
43gilles de la tourette syndrome10.3
44breast cancer10.3
45learning disability10.3
46horseshoe kidney10.3
47infertility10.3
48premature menopause10.3
49pseudopseudohypoparathyroidism10.3
50endometrial adenocarcinoma10.3

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



Diseases related to turner syndrome

Symptoms for Turner Syndrome

About this section


Symptoms:

48 (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:

32
Kidney, Ovary, Testes, Skin, Thyroid, Bone, Heart, 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 673)
idTitleAuthorsYear
1
Increased arterial stiffness in young normotensive patients with Turner syndrome: associations with vascular biomarkers. (25284268)
2014
2
Focal limbal stem cell deficiency in turner syndrome: report of two patients and review of the literature. (24342891)
2014
3
Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations. (23936059)
2013
4
Turner Syndrome and apparent absent uterus: a case report and review of the literature. (23443264)
2013
5
Lessons from a patient with Turner syndrome. (23449929)
2013
6
Liver involvement in Turner syndrome. (23121401)
2013
7
Obscure gastrointestinal bleeding and Turner syndrome. (23368930)
2013
8
An evaluation of early cardiometabolic risk factors in children and adolescents with Turner syndrome. (23106295)
2013
9
Body composition in Egyptian Turner syndrome girls. (24019614)
2013
10
Estrogen requirements in girls with Turner syndrome; how low is enough for initiating puberty and uterine development? (21793702)
2012
11
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
12
Cognition and behavior in Turner syndrome: a brief review. (22946281)
2012
13
Turner syndrome: contemporary thoughts and reproductive issues. (21969268)
2011
14
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
15
Pregnancy rate and outcome in Swedish women with Turner syndrome. (21256486)
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
Expanding the differential of shoulder pain: Parsonage-Turner syndrome. (19706831)
2009
22
Androgen replacement therapy in Turner syndrome: a pilot study. (19846743)
2009
23
Adult height in Turner Syndrome girls after long-term growth hormone treatment. (19770097)
2009
24
Long-term follow-up of GH-treated girls with Turner syndrome: metabolic consequences. (19506392)
2009
25
Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature. (21731587)
2009
26
Picture of the month--quiz case. Parsonage-Turner Syndrome. (19255397)
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

About this section

Expression for genes affiliated with Turner Syndrome

About this section
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

About this section

Compounds for genes affiliated with Turner Syndrome

About this section

Compounds related to Turner Syndrome according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1progestins449.4SERPINA7, GH1
2raloxifene44 50 28 1112.4GH1, SERPINA7
3triiodothyronine449.3SERPINA7, GH1
4corticosterone44 61 2411.3GH1, SERPINA7
5estrone44 28 24 1112.2GH1, SERPINA7
6adenine44 24 1111.1SRY, GH1
7agarose449.1SRY, SERPINA7
8thyroxine44 2410.1GH1, SERPINA7
9dihydrotestosterone44 28 24 1112.0GH1, SRY
10estradiol44 24 1110.9GH1, SRY, SERPINA7
11leucine448.8GH1, SRY, SERPINA7
12testosterone44 61 24 1111.7GH1, SRY, SERPINA7
13steroid448.5GH1, SRY, SERPINA7, SHOX

GO Terms for genes affiliated with Turner Syndrome

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Turner Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet