TS
MCID: TRN020
MIFTS: 77

Turner Syndrome (TS) malady

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

Summaries for Turner Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 32MalaCards
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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: Turner Syndrome, also known as monosomy x, is related to swyer syndrome and gonadal disease, 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 SHOX (short stature homeobox), and among its related pathways are Endochondral Ossification and Development IGF-RI signaling. The compounds estrogen and dehydroepiandrosterone sulfate have been mentioned in the context of this disorder. Affiliated tissues include kidney, ovary and testes.

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: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

Wikipedia:63 Turner syndrome or Ullrich–Turner syndrome (also known as \"Gonadal dysgenesis\"), 45,X, encompasses... more...

Aliases & Classifications for Turner Syndrome

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Sources:
8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

turner syndrome 8 63 42 21 10 48 33 60
monosomy x 8 63 21 48
bonnevie-ullrich syndrome 8 63 60
turner's syndrome 63 22 21
ullrich-turner syndrome 63 21
gonadal dysgenesis 42 60
45,x 63 21
ts 63 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's syndrome nos 8
45,x/46,xx syndrome 48
monosomy x syndrome 8
turners syndrome 44
karyotype 45, x 8
45, x syndrome 42
45,x syndrome 48
xo syndrome 8


External Ids:

Disease Ontology8 DOID:3491
MESH via Orphanet35 D014424
SNOMED-CT via Orphanet57 38804009
UMLS via Orphanet61 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 330)
idRelated DiseaseScoreTop Affiliating Genes
1swyer syndrome30.9SRY
2gonadal disease30.7IGF1, GH1
3noonan syndrome30.7GHR, IGFBP3, IGF1
4anorexia nervosa30.7GHR, GH1, SHBG, IGFBP1, IGFBP3, IGF1
5hypogonadism30.5IGF1, IGFBP3, SHBG, GH1
6gonadoblastoma30.5RPS4Y1, SRY, TSPY1
7gonadal dysgenesis30.4SRY
8thyroiditis30.4SERPINA7
9breast cancer30.4CGB, GH1, SHBG, IGFBP1, IGFBP3, IGF1
10premature ovarian failure30.3PAEP, IGFBP3, SHBG, BMP15
11hermaphroditism30.1SRY
12hyperprolactinemia30.1CGB, GH1, SHBG, IGF1
13endometriosis30.1PAEP, IGFBP1
14choriocarcinoma30.1GH1, CGB
15hypospadias30.1CYP21A2, SRY
16metabolic acidosis30.1IGF1
17hypertension30.1IGF1
18prolactinoma30.1IGF1, GH1, CGB
19dwarfism30.1GHR, GH1, SHOX, IGFBP3, IGF1
20hypopituitarism30.1GHR, GH1, SHBG, IGFBP3, IGF1, CYP21A2
21hypothyroidism30.1GHR, GH1, SHBG, IGFBP3, IGF1, SERPINA7
22mixed gonadal dysgenesis30.1CYP21A2, SRY
23obesity30.1GHR, GH1, SHBG, IGFBP1, IGFBP3, IGF1
24prader-willi syndrome29.9GH1, IGF1
25infertility29.9BMP15, CGB, SHBG, IGFBP1, CYP21A2, PAEP
26male infertility29.9TSPY1, SHBG
27amenorrhea29.8BMP15, SHBG, IGF1, SRY
28acromegaly29.8GH1, IGFBP3, IGF1
29glucose intolerance29.8GH1, SHBG, IGFBP1, IGFBP3, IGF1
30hyperinsulinism29.8GHR, GH1, SHBG, IGFBP1, IGFBP3, IGF1
31down syndrome29.8CGB, SRY
32endometrial carcinoma29.8PAEP, IGF1, IGFBP3, IGFBP1, SHBG
33graves' disease29.8SERPINA7, CYP21A2, SHBG
34hypoglycemia29.8GHR, GH1, IGFBP1, IGFBP3, IGF1
35diabetes mellitus29.8GHR, GH1, SHBG, IGFBP1, IGFBP3, IGF1
36adenocarcinoma29.8CGB, GHR, IGFBP1, CYP21A2, PAEP
37adenoma29.8CGB, GHR, GH1, SHBG, IGFBP1, IGFBP3
38hypochondroplasia29.8SHOX
3946 xy gonadal dysgenesis10.7
40adult syndrome10.6
4146 xx gonadal dysgenesis10.5
42colorectal cancer10.5
43image syndrome10.5
44denys-drash syndrome10.4
45seminoma10.4
4646,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.4
47gonadal dysgenesis, xx type10.4
48ovarian dysgenesis 110.4
49parsonage turner syndrome10.4
50frasier syndrome10.4

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



Diseases related to turner syndrome

Clinical Features for Turner Syndrome

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Sources:
48Orphanet
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Symptoms:

48 (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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Turner Syndrome

Drug clinical trials:

Search ClinicalTrials for Turner Syndrome

Search NIH Clinical Center for Turner Syndrome

Search CenterWatch for Turner Syndrome

Genetic Tests for Turner Syndrome

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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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32MalaCards
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MalaCards organs/tissues related to Turner Syndrome:

32
Kidney, Ovary, Testes, Skin, Thyroid, Bone, Heart, Liver, Eye, Brain, Endothelial, Adrenal gland, Uterus, Cortex, Tongue, Fetal liver, Skeletal muscle, Monocytes, Pituitary, Small intestine

Animal Models for Turner Syndrome or affiliated genes

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Publications for Turner Syndrome

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Sources:
50PubMed
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Articles related to Turner Syndrome:

(show top 50)    (show all 662)
idTitleAuthorsYear
1
Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations. (23936059)
2013
2
Obscure gastrointestinal bleeding and Turner syndrome. (23368930)
2013
3
Are girls with Turner syndrome obese? (23909160)
2013
4
Prenatal Diagnosis and Management of Monozygotic Twins Discordant for Turner Syndrome. (24356383)
2013
5
An association of craniopharyngioma in Turner syndrome. (23255311)
2013
6
Metabolic effects of oral versus transdermal 17I^-estradiol (Ea88): a randomized clinical trial in girls with Turner syndrome. (23678038)
2013
7
Fertility in Turner syndrome. (23844676)
2013
8
Liver dysfunction in Turner syndrome and its relationship to exogenous oestrogen. (23603786)
2013
9
Parsonage-Turner syndrome and a localised swelling around the extensor tendons of the hand: a clinical sign indicating increased risk of rupture of the tendon. (22928886)
2012
10
Bone health in children and adolescent with Turner syndrome. (23426807)
2012
11
Spontaneous puberty in girls with early diagnosis of Turner syndrome. (23329189)
2012
12
Growth promotion in Turner syndrome. (22572865)
2012
13
Medical care of girls with Turner Syndrome: where are we lacking? (21454226)
2011
14
Reduced functional connectivity during working memory in Turner syndrome. (21441396)
2011
15
Multiple pterygium syndrome: mimicking the findings of Turner syndrome. (22308873)
2011
16
Screening for celiac disease among patients with Turner syndrome in BrasA-lia, DF, midwest region of Brazil. (21140084)
2010
17
Intracallosal longitudinal fiber bundle: an unexpected finding mimicking demyelination in a patient with Turner syndrome. (20652575)
2010
18
Growth hormone treatment does not affect incidences of middle ear disease or hearing loss in infants and toddlers with Turner syndrome. (20424424)
2010
19
Prenatal diagnsis of intracardiac hamartoma and Turner syndrome. (20704479)
2010
20
Isolated unilateral brachial neuritis of the phrenic nerve (parsonage-turner syndrome) in a marathon runner with exertional dyspnea. (23015952)
2010
21
Atraumatic osteonecrosis after estrogen replacement therapy associated with low protein S level in a patient with Turner syndrome. (19648147)
2010
22
A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient. (20849656)
2010
23
Cardiovascular risks of pregnancy in women with Turner syndrome. (19342026)
2009
24
Impaired body balance, fine motor function and hearing in women with Turner syndrome. (19018780)
2009
25
Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels. (19200215)
2009
26
Fragile X prenatal analyses show full mutation females at high risk for mosaic Turner syndrome: fragile X leads to chromosome loss. (19764037)
2009
27
Turner syndrome. (18593751)
2008
28
Turner syndrome - an accidental finding? (18325199)
2008
29
Atherogenic lipid profile and systolic blood pressure are associated with carotid artery intima-media thickness in children with Turner syndrome. (21318066)
2008
30
Impact of patient characteristics and clinical factors on the decision to initiate growth hormone treatment in Turner syndrome. (18824869)
2008
31
Homozygosity of the d3-growth hormone receptor polymorphism is associated with a high total effect of GH on growth and a low BMI in girls with Turner syndrome. (17973940)
2008
32
Startling mosaicism of the Y-chromosome and tandem duplication of the SRY and DAZ genes in patients with Turner Syndrome. (19030103)
2008
33
Ruptured omphalocele with extracorporeal intestines mimicking gastroschisis in a fetus with Turner syndrome. (17694577)
2007
34
Bilateral exudative retinal detachments as initial presentation of sympathetic ophthalmia in Turner syndrome. (16883368)
2006
35
Parsonage Turner syndrome. (16450670)
2006
36
Parsonage-Turner syndrome associated with anti-bovine viral diarrhoea virus antibodies. (20429063)
2006
37
Coats' disease and bilateral cataract in a child with Turner syndrome: a case report. (15959738)
2005
38
Hypothyroidism is common in turner syndrome: results of a five-year follow-up. (15623818)
2005
39
Cardiovascular risk factors in Turner syndrome. (15529627)
2004
40
Impaired insulin secretion in the Turner metabolic syndrome. (15240640)
2004
41
Video-assisted gonadectomy in children with Ullrich Turner syndrome or 46,XY gonadal dysgenesis. (15211408)
2004
42
Parsonage-Turner syndrome in the Native American Indian. (10810688)
2000
43
Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome. (10599728)
1999
44
Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation. (9598730)
1998
45
Celiac disease and Turner syndrome. (9586758)
1998
46
Parsonage-Turner syndrome (acute brachial neuritis). (8816659)
1996
47
Dysgerminoma in 45,X Turner syndrome: report of a case. (3048795)
1988
48
Adult Turner syndrome associated with chylous ascites and vascular anomalies. (3594929)
1987
49
Trisomy 22 mosaicism syndrome and Ullrich-Turner stigmata. (3953673)
1986
50
Turner syndrome resulting from partial deletion of Y chromosome short arm: localization of male determinants. (6542134)
1984

Genetic Variations for Turner Syndrome

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Expression for genes affiliated with Turner Syndrome

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1BioGPS, 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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Sources:
37NCBI BioSystems Database, 12EMD Millipore, 53Reactome, 29KEGG
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Compounds for genes affiliated with Turner Syndrome

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Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Turner Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 105)
idCompoundScoreTop Affiliating Genes
1estrogen4410.8SHOX, SERPINA7, PAEP
2dehydroepiandrosterone sulfate4410.8GHR, IGFBP1, IGFBP3, IGF1, CYP21A2, GH1
3pegvisomant44 1111.8GH1, GHR, IGFBP3, IGF1, IGFBP1
4leuprolide acetate4410.8CYP21A2, IGF1, GHR, GH1, SHBG
5c-peptide4410.8GHR, SHBG, IGFBP1, IGFBP3, GH1, CYP21A2
6lanreotide44 2811.8IGFBP3, IGFBP1, GH1, GHR, IGF1
7acth4410.8IGF1, IGFBP1, SERPINA7, CYP21A2, IGFBP3, GHR
8triiodothyronine4410.8GHR, GH1, SHBG, IGFBP1, SERPINA7, IGFBP3
9dihydrotestosterone44 28 11 2413.8SHBG, IGFBP1, GHR, IGF1, GH1, IGFBP3
10clomiphene citrate4410.8PAEP, IGFBP1, SHBG, GH1, CGB, IGFBP3
11thyroxine44 2411.8IGF1, SHBG, GHR, CGB, IGFBP3, CYP21A2
12oxandrolone44 1111.8IGFBP3, IGF1, SHBG, GH1
13progestins4410.8SERPINA7, PAEP, GH1, SHBG, IGFBP1, IGFBP3
14androstenedione44 2411.8SHBG, GH1, GHR, CGB, IGFBP1, IGF1
15raloxifene44 28 49 1113.8IGF1, SERPINA7, GH1
16deoxypyridinoline4410.8IGFBP3, IGF1, IGFBP1, SHBG, GH1
17dhea4410.8CYP21A2, IGFBP1, SHBG, GH1, IGF1, IGFBP3
18ghrp4410.8IGF1, IGFBP3, GHR, GH1
19gnrh4410.8GH1, SHBG, IGF1, IGFBP1, IGFBP3, CYP21A2
20levonorgestrel44 59 28 1113.8SERPINA7, PAEP, IGFBP3, IGFBP1, SHBG
21estradiol44 11 2412.8SERPINA7, SRY, PAEP, GHR, IGF1, IGFBP1
22estrone44 28 11 2413.8IGFBP3, SERPINA7, IGF1, SHBG, GH1, IGFBP1
23steroid4410.8IGFBP3, IGFBP1, IGF1, CYP21A2, PAEP, SRY
24ribonucleic acid4410.8GHR, GH1, IGFBP1, IGFBP3, IGF1, PAEP
25bromocriptine28 44 1112.8IGF1, GHR, IGFBP3, SHBG, GH1
26progesterone44 59 28 11 2414.8GH1, CYP21A2, CGB, SERPINA7, IGF1, IGFBP3
27hexarelin44 2811.8IGFBP3, IGF1, GH1, GHR
28testosterone44 59 11 2413.8GH1, IGFBP1, IGF1, SERPINA7, SRY, PAEP
29pyridostigmine44 1111.8IGF1, GH1, IGFBP1, IGFBP3
30tamoxifen44 49 28 1113.8PAEP, SHBG, IGF1, IGFBP3, GH1, SERPINA7
31anastrozole44 1111.7IGFBP1, GH1, IGFBP3, SHBG
32buserelin44 28 1112.7PAEP, IGFBP3, IGFBP1, IGF1
33octreotide44 59 28 1113.7IGF1, GH1, IGFBP3, IGFBP1, GHR
34creatinine4410.7SERPINA7, IGF1, IGFBP3, CGB, IGFBP1, SHBG
35cabergoline28 44 1112.7IGFBP3, GH1, GHR, IGF1
36glucose4410.7PAEP, CYP21A2, IGF1, SERPINA7, SHBG, GH1
37calcitriol44 59 11 2413.7IGFBP3, IGF1, GH1, GHR, SHBG, IGFBP1
38progestin4410.7PAEP, IGFBP1, SHBG, IGF1, IGFBP3
39chloramphenicol44 2 1112.6CYP21A2, IGFBP3, GH1, IGFBP1, SERPINA7, GHR
40cholesterol44 28 11 2413.6PAEP, CYP21A2, GHR, SERPINA7, SHBG, IGFBP1
41prednisolone44 28 1112.6IGFBP3, IGFBP1, SHBG, CYP21A2, GH1
42arginine4410.6IGFBP3, IGF1, IGFBP1, CYP21A2, SERPINA7, GH1
43hydrocortisone44 2 59 1113.6IGF1, IGFBP1, SHBG, GH1, CYP21A2
44vitamin d4410.6GH1, IGFBP1, IGFBP3, SHBG, GHR, IGF1
45alanine4410.5SERPINA7, SRY, GH1, CGB, SHBG
46droloxifene4410.5IGF1, IGFBP1, SHBG
47nandrolone44 2411.4IGFBP3, IGF1, SHBG
48glycerol44 11 2412.4GH1, SHBG, IGFBP3, PAEP, IGFBP1
49clonidine44 28 1112.3GHR, GH1, IGF1, IGFBP3
5017-hydroxypregnenolone4410.1SHBG, IGFBP1, CYP21A2

GO Terms for genes affiliated with Turner Syndrome

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16Gene Ontology
See all sources

Cellular components related to Turner Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor binding protein complexGO:01694210.5IGF1, IGFBP3
2extracellular regionGO:00557610.3SERPINA7, CGB, GHR, GH1, SHBG, IGFBP1
3extracellular spaceGO:00561510.1BMP15, GHR, GH1, IGFBP1, IGFBP3, IGF1

Biological processes related to Turner Syndrome according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of insulin-like growth factor receptor signaling pathwayGO:04356810.6IGF1, IGFBP3, GH1
2positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252310.6IGF1, GH1, GHR
3female gamete generationGO:00729210.6BMP15, USP9X, CGB
4cellular protein metabolic processGO:04426710.5RPS4Y1, RPS4X, CGB, IGFBP1, IGFBP3, IGF1
5insulin-like growth factor receptor signaling pathwayGO:04800910.4IGF1, GHR
6positive regulation of peptidyl-tyrosine phosphorylationGO:05073110.4IGF1, GH1, GHR
7growth hormone receptor signaling pathwayGO:06039610.4GHR, GH1
8cartilage development involved in endochondral bone morphogenesisGO:06035110.1GHR, SHOX2

Molecular functions related to Turner Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:00517910.4IGF1, GH1, CGB

Products for genes affiliated with Turner Syndrome

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet