MCID: TRN020
MIFTS: 65

Turner Syndrome

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Turner Syndrome

MalaCards integrated aliases for Turner Syndrome:

Name: Turner Syndrome 12 72 50 25 56 29 41 42 14 69
Monosomy X 12 25 56 69
Bonnevie-Ullrich Syndrome 12 69
Ullrich-Turner Syndrome 50 25
Gonadal Dysgenesis 50 69
Turner's Syndrome 72 25
Gonadal Dysgenesis Turner Type 50
Schereshevkii Turner Syndrome 50
Gonadal Dysgenesis - Turner 12
Bonnevie-Ulrich Syndrome 50
Gonadal Dysgenesis, 45,x 69
Chromosome X Monosomy X 50
Turner Varny Syndrome 50
Monosomy X Syndrome 12
45,x/46,xx Syndrome 56
Turners Syndrome 52
Karyotype 45, X 12
45, X Syndrome 50
45,x Syndrome 56
Xo Syndrome 12
45,x 25
Ts 25

Characteristics:

Orphanet epidemiological data:

56
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;

Classifications:



Summaries for Turner Syndrome

NIH Rare Diseases : 50 turner syndrome is a chromosomal disorder that affects development in females. it results when a female's cells have one normal x chromosome and the other x chromosome is either missing or structurally altered (females without turner syndrome have two normal x chromosomes in each cell). signs and symptoms may include short stature, premature ovarian failure, a "webbed" neck, a low hairline at the back of the neck, and swelling (lymphedema) of the hands and feet. some people with turner syndrome have skeletal abnormalities, kidney problems, and/or a congenital heart defect. most affected girls and women have normal intelligence, but some have developmental delays, learning disabilities, and/or behavior problems. turner syndrome is typically not inherited, but it can be inherited in rare cases. treatment may include growth hormone therapy for short stature and estrogen therapy to help stimulate sexual development. while most women with turner syndrome are infertile, assisted reproductive techniques can help some women become pregnant. last updated: 7/13/2016

MalaCards based summary : Turner Syndrome, also known as monosomy x, is related to 46 xy gonadal dysgenesis and wilson-turner syndrome, and has symptoms including short neck, delayed puberty and increased circulating gonadotropin level. An important gene associated with Turner Syndrome is SHOX (Short Stature Homeobox), and among its related pathways/superpathways are Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and Endochondral Ossification. The drugs Progesterone and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include testes, thyroid and ovary, and related phenotype is Increased shRNA abundance (Z-score > 2).

Genetics Home Reference : 25 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.

MedlinePlus : 41 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

Wikipedia : 72 Turner syndrome (TS), also known as 45,X or 45,X0, is a condition in which a female is partly or... more...

Related Diseases for Turner Syndrome

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 264)
id Related Disease Score Top Affiliating Genes
1 46 xy gonadal dysgenesis 12.5
2 wilson-turner syndrome 12.3
3 parsonage turner syndrome 12.1
4 turner syndrome due to structural x chromosome anomalies 11.9
5 gilles de la tourette syndrome 11.7
6 pseudo-turner syndrome 11.7
7 noonan syndrome 1 11.7
8 virus-associated trichodysplasia spinulosa 11.5
9 hypoplastic left heart syndrome 11.1
10 klippel-feil syndrome 11.1
11 trichostasis spinulosa 10.9
12 tuberous sclerosis-1 10.9
13 timothy syndrome 10.9
14 amyotrophy, hereditary neuralgic 10.7
15 nuchal bleb, familial 10.7
16 lymphangioma 10.7
17 cystic lymphangioma 10.7
18 brachial plexus lesion 10.7
19 hydrops fetalis 10.7
20 numeric sex chromosome variations 10.7
21 erb's palsy 10.7
22 albinism, oculocutaneous, type ib 10.7
23 tsc2 angiomyolipomas, renal, modifier of 10.7
24 sclerotylosis 10.7
25 brachial plexus neuritis 10.7
26 mental retardation, x-linked, syndromic, wilson-turner type 10.7
27 small cell lung cancer, childhood 10.7 IGF1 IGFBP3
28 acyl-coa dehydrogenase, short-chain, deficiency of 10.6 GHR IGF1
29 selenium poisoning 10.6 IGF1 IGFBP3
30 autism susceptibility, x-linked 2 10.6 SHOX SHOX2 SRY
31 simple cryoglobulinemia 10.5 GH1 GHR
32 pulmonary large cell neuroendocrine carcinoma 10.5 IGF1 IGFBP3
33 lipase deficiency, combined 10.5 GH1 IGF1 IGFBP3
34 pituitary adenoma, prolactin-secreting 10.5 GH1 IGF1 IGFBP3
35 kowarski syndrome 10.4 GH1 GHR IGF1
36 primary hypomagnesemia 10.4 GH1 GHR IGF1
37 grubben de cock borghgraef syndrome 10.4 GH1 IGF1 IGFBP3
38 molybdenum cofactor deficiency b 10.4 GH1 GHR IGF1
39 allergic asthma 10.4 GH1 IGF1 IGFBP3
40 vaginal discharge 10.4 SHBG SRY
41 hyperlipoproteinemia, type ib 10.4 IGF1 IGFBP3
42 male genital organ stricture 10.4 GH1 IGFBP3 SHBG
43 condrodisplasia punctata rizomélica 10.3 IGFBP3 SHBG SRY
44 chromosome 11p13 deletion syndrome, distal 10.3 GH1 GHR IGF1
45 worth's syndrome 10.2 BGLAP GH1 IGF1
46 medullomyoblastoma 10.2 IGF1 IGFBP3 SHBG
47 plague 10.2 IGF1 IGFBP3 SHBG
48 colorectal cancer 10.2
49 maturity-onset diabetes of the young, type 10 10.2 IGFBP1 SHBG
50 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities 10.2 CGB3 TSPY1

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



Diseases related to Turner Syndrome

Symptoms & Phenotypes for Turner Syndrome

Human phenotypes related to Turner Syndrome:

56 32 (show top 50) (show all 88)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 56 32 hallmark (90%) Very frequent (99-80%) HP:0000470
2 delayed puberty 56 32 hallmark (90%) Very frequent (99-80%) HP:0000823
3 increased circulating gonadotropin level 56 32 hallmark (90%) Very frequent (99-80%) HP:0000837
4 osteopenia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000938
5 osteoporosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000939
6 low posterior hairline 56 32 hallmark (90%) Very frequent (99-80%) HP:0002162
7 cubitus valgus 56 32 hallmark (90%) Very frequent (99-80%) HP:0002967
8 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
9 wide intermamillary distance 56 32 hallmark (90%) Very frequent (99-80%) HP:0006610
10 aplasia/hypoplasia of the nipples 56 32 hallmark (90%) Very frequent (99-80%) HP:0006709
11 female infertility 56 32 hallmark (90%) Very frequent (99-80%) HP:0008222
12 enlarged thorax 56 32 hallmark (90%) Very frequent (99-80%) HP:0100625
13 horseshoe kidney 56 32 frequent (33%) Frequent (79-30%) HP:0000085
14 ectopic kidney 56 32 frequent (33%) Frequent (79-30%) HP:0000086
15 hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000365
16 low-set ears 56 32 frequent (33%) Frequent (79-30%) HP:0000369
17 recurrent otitis media 56 32 frequent (33%) Frequent (79-30%) HP:0000403
18 webbed neck 56 32 frequent (33%) Frequent (79-30%) HP:0000465
19 thickened nuchal skin fold 56 32 frequent (33%) Frequent (79-30%) HP:0000474
20 anxiety 56 32 frequent (33%) Frequent (79-30%) HP:0000739
21 impaired use of nonverbal behaviors 56 32 frequent (33%) Frequent (79-30%) HP:0000758
22 pectus excavatum 56 32 frequent (33%) Frequent (79-30%) HP:0000767
23 primary amenorrhea 56 32 frequent (33%) Frequent (79-30%) HP:0000786
24 hypertension 56 32 frequent (33%) Frequent (79-30%) HP:0000822
25 secondary amenorrhea 56 32 frequent (33%) Frequent (79-30%) HP:0000869
26 hashimoto thyroiditis 56 32 frequent (33%) Frequent (79-30%) HP:0000872
27 abnormality of the fingernails 56 32 frequent (33%) Frequent (79-30%) HP:0001231
28 hepatic steatosis 56 32 frequent (33%) Frequent (79-30%) HP:0001397
29 obesity 56 32 frequent (33%) Frequent (79-30%) HP:0001513
30 hypoplastic toenails 56 32 frequent (33%) Frequent (79-30%) HP:0001800
31 high, narrow palate 56 32 frequent (33%) Frequent (79-30%) HP:0002705
32 elevated hepatic transaminases 56 32 frequent (33%) Frequent (79-30%) HP:0002910
33 dilatation of the aortic arch 56 32 frequent (33%) Frequent (79-30%) HP:0005113
34 abnormal dermatoglyphics 56 32 frequent (33%) Frequent (79-30%) HP:0007477
35 postnatal growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0008897
36 neck pterygia 56 32 frequent (33%) Frequent (79-30%) HP:0009759
37 short 4th metacarpal 56 32 frequent (33%) Frequent (79-30%) HP:0010044
38 epicanthus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000286
39 micrognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000347
40 cystic hygroma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000476
41 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
42 ptosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000508
43 depression 56 32 occasional (7.5%) Occasional (29-5%) HP:0000716
44 hyperinsulinemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000842
45 atypical scarring of skin 56 32 occasional (7.5%) Occasional (29-5%) HP:0000987
46 melanocytic nevus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000995
47 lymphedema 56 32 occasional (7.5%) Occasional (29-5%) HP:0001004
48 vitiligo 56 32 occasional (7.5%) Occasional (29-5%) HP:0001045
49 hip dysplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001385
50 hepatic fibrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001395

GenomeRNAi Phenotypes related to Turner Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.85 IGFBP1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.85 BGLAP
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.85 SHOX
4 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.85 BGLAP
5 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.85 BGLAP
6 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.85 IGFBP1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.85 SHOX
8 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.85 IGFBP1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.85 TPO
10 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.85 SHOX
11 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.85 SHOX BGLAP
12 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.85 IGFBP1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.85 BGLAP
14 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.85 BGLAP
15 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.85 BGLAP
16 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.85 SHOX TPO BGLAP IGFBP1 SHBG
17 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.85 IGFBP1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.85 SHOX
19 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.85 BGLAP
20 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.85 SHBG
21 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.85 SHOX
22 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.85 SHOX
23 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.85 TPO
24 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.85 SHBG
25 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.85 SHBG
26 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.85 TPO
27 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.85 TPO
28 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.85 SHBG
29 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.85 IGFBP1

Drugs & Therapeutics for Turner Syndrome

Drugs for Turner Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 97)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Progesterone Approved, Vet_approved Phase 4,Phase 3,Early Phase 1 57-83-0 5994
2
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-28-2 5757
3
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2 57-63-6 5991
4
Norethindrone Approved Phase 4 68-22-4 6230
5
Ganirelix Approved Phase 4 123246-29-7, 124904-93-4 25081094
6
Lenograstim Approved Phase 4 135968-09-1
7
Lactitol Investigational Phase 4 585-86-4 3871
8 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
9 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
10 Hormones Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
12 Contraceptive Agents Phase 4,Phase 3,Phase 2,Phase 1
13 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
14 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
15 Estradiol valerate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 979-32-8
16 Polyestradiol phosphate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
17 Contraceptives, Oral Phase 4,Phase 3,Phase 2
18 Norethindrone acetate Phase 4
19 Norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination Phase 4
20 Norinyl Phase 4
21 Progestins Phase 4,Phase 3,Early Phase 1
22 Chorionic Gonadotropin Phase 4
23 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1
24 Deslorelin Phase 4
25 Luteolytic Agents Phase 4
26 Triptorelin Pamoate Phase 4
27 Adjuvants, Immunologic Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
28 Hypoglycemic Agents Phase 4
29 insulin Phase 4
30 Insulin, Globin Zinc Phase 4
31
Testosterone Approved, Investigational Phase 3,Phase 2,Phase 1 58-22-0 6013
32
Methyltestosterone Approved Phase 3,Phase 1,Phase 2 58-18-4 6010
33
Oxandrolone Approved, Investigational Phase 3,Phase 2,Phase 1 53-39-4 5878
34
Medroxyprogesterone acetate Approved, Investigational Phase 3,Phase 2 71-58-9
35
Norgestimate Approved Phase 3 35189-28-7 6540478
36
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
37 Racepinephrine Approved Phase 2, Phase 3
38
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 5785 54670067
39
Dehydroepiandrosterone Approved, Nutraceutical Phase 2, Phase 3, Phase 1, Early Phase 1 53-43-0 9860744
40 Anabolic Agents Phase 3,Phase 2,Phase 1
41 Androgens Phase 3,Phase 2,Phase 1
42 Antioxidants Phase 3
43 Estrogens, Conjugated (USP) Phase 3,Phase 1
44 Micronutrients Phase 3
45 Protective Agents Phase 3
46 Testosterone 17 beta-cypionate Phase 3,Phase 1,Phase 2
47
Testosterone enanthate Phase 3,Phase 1,Phase 2 315-37-7 9416
48 Testosterone undecanoate Phase 3,Phase 1,Phase 2
49 Trace Elements Phase 3
50 Vitamins Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 142)

id Name Status NCT ID Phase Drugs
1 Effects of ADSC Therapy in Women With POF Unknown status NCT01853501 Phase 4
2 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4 estradiol
3 First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study Completed NCT01419249 Phase 4
4 Growth Hormone Treatment for the Prevention of Short Stature in Young Girls With Turner Syndrome Before the Age of 4 Years Completed NCT01066052 Phase 4
5 A Study to Evaluate Subjects With Turner Syndrome Treated With Growth Hormone Completed NCT00097552 Phase 4
6 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
7 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
8 Growth Response in Girls With Turner Syndrome Completed NCT01734486 Phase 4 somatropin;somatropin
9 Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome Completed NCT01518062 Phase 4 somatropin;somatropin;somatropin;oestrogen
10 Predictive Markers in GHD and TS Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen
11 Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD) Completed NCT00097526 Phase 4
12 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
13 Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure Completed NCT00732693 Phase 4 Ethinylestradiol / Norethisterone;Estradiol / Progesterone
14 Modified Natural Cycle Offers a Chance of Pregnancy in Patients With Poor Response and High Basal FSH Completed NCT00417157 Phase 4 recombinant FSH (Puregon, Organon, The Netherlands);GnRH antag: Ganirelix (Orgalutran, Organon, The Netherlands);hCG (Pregnyl, Organon, The Netherlands)
15 Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders Completed NCT00417066 Phase 4 Ganirelix 0.25mg (Orgalutran, Organon, The Netherlands);Arvekap 0.1mg (Triptorelin, Ipsen, France)
16 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4 Somatropin
17 Filgrastim for Premature Ovarian Insufficiency Active, not recruiting NCT02783937 Phase 4 Saline
18 Study to Identify Markers of Insulin Resistance During Growth Hormone Treatment for Short Stature Terminated NCT00121875 Phase 4 somatropin (rDNA)
19 The Effect of Androgen and Growth Hormone on Height and Learning in Girls With Turner Syndrome Completed NCT00029159 Phase 3 estrogen;androgen
20 Somatropin Treatment to Final Height in Turner Syndrome Completed NCT00191113 Phase 3 Somatropin;Ethinyl estradiol;Medroxyprogesterone acetate
21 The Effect of Growth Hormone in Very Young Girls With Turner Syndrome Completed NCT00406926 Phase 3 Somatropin
22 Use of Somatropin in Turner Syndrome Completed NCT01518036 Phase 3 somatropin;somatropin
23 Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome Completed NCT01710696 Phase 3 17-beta estradiol;17-beta estradiol
24 Estrogen Treatment (Oral vs. Patches) in Turner Syndrome Completed NCT00140998 Phase 3 17 beta estradiol
25 An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG Completed NCT00250250 Phase 3 ZOMACTON
26 Somatropin Treatment in Patients With SHOX Deficiency and Turner Syndrome Completed NCT00190658 Phase 3 Somatropin (rDNA origin) for injection
27 Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq Completed NCT00234533 Phase 3 Somatropin (rDNA origin)
28 Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT01563926 Phase 3 somatropin
29 Hormone Replacement for Premature Ovarian Insufficiency Recruiting NCT02922348 Phase 3 Hormone Replacement Therapy;Combined Oral Contraceptives
30 A Clinical Study to Assess the Efficacy and Safety of DA-3002 Active, not recruiting NCT01813630 Phase 3 DA-3002;Genotropin®
31 Study of Oral Dehydroepiandrosterone(DHEA) to Treat Previously Unexplained Infertility Terminated NCT00650754 Phase 2, Phase 3
32 Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF) Terminated NCT00948857 Phase 2, Phase 3
33 Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure Unknown status NCT02043743 Phase 1, Phase 2
34 Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure Unknown status NCT02062931 Phase 1, Phase 2
35 Stem Cell Therapy Combined Hormone Replacement Therapy in Patients With Premature Ovarian Failure Unknown status NCT01742533 Phase 1, Phase 2 Hormone Replacement Therapy
36 Oxandrolone Compared With a Placebo on Growth Rate in Girls With Growth Hormone-Treated Turner's Syndrome Completed NCT00004275 Phase 2 growth hormone;oxandrolone
37 The Effects of Estrogen on Cognition in Girls With Turner Syndrome Completed NCT00001253 Phase 2
38 Effect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients With Turner Syndrome Completed NCT00001221 Phase 2 Growth Hormone (Humatrope)
39 Hormone Replacement Therapy to Treat Turner Syndrome Completed NCT00013546 Phase 2 TMTDS
40 The Effects of Hormones in Growth Hormone-Treated Girls With Turner Syndrome Completed NCT00001343 Phase 2 Humatrope;Oxandrolone
41 "It is a Real" The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure Completed NCT02372474 Phase 1, Phase 2
42 Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure Completed NCT02151890 Phase 1, Phase 2
43 GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients Completed NCT00429494 Phase 2 Leuprolide Acetate
44 Hormone Replacement in Young Women With Premature Ovarian Failure Completed NCT00001951 Phase 2 TMTDS
45 A Study of PEG-somatropin Injection to Treat Children of Turner Syndrome Recruiting NCT03189160 Phase 2
46 Human Umbilical Cord Mesenchymal Stem Cells (HUC-MSCs) Transplantation in Women With Primary Ovarian Insufficiency (POI) Recruiting NCT03033277 Phase 1, Phase 2
47 Effect of Testosterone Treatment on Embryo Quality Recruiting NCT01662466 Phase 1, Phase 2 Testosterone cream (0.5mg per gram);Placebo
48 Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF) Recruiting NCT02603744 Phase 1, Phase 2
49 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
50 Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF) Active, not recruiting NCT03069209 Phase 1, Phase 2

Search NIH Clinical Center for Turner Syndrome

Cochrane evidence based reviews: turner syndrome

Genetic Tests for Turner Syndrome

Genetic tests related to Turner Syndrome:

id Genetic test Affiliating Genes
1 Turner Syndrome 29

Anatomical Context for Turner Syndrome

MalaCards organs/tissues related to Turner Syndrome:

39
Testes, Thyroid, Ovary, Kidney, Bone, Skin, Heart

Publications for Turner Syndrome

Articles related to Turner Syndrome:

(show top 50) (show all 847)
id Title Authors Year
1
Can Brain Natriuretic Peptides and Osteoprotegerin Serve As Biochemical Markers for the Detection of Aortic Pathology in Children and Adolescents with Turner Syndrome? ( 28725213 )
2017
2
Otologic disorders in Turner syndrome. ( 28941966 )
2017
3
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. ( 28705803 )
2017
4
Audiometric features in young adults with Turner syndrome. ( 28420278 )
2017
5
18F-FDG Uptake in Parsonage-Turner Syndrome. ( 28759527 )
2017
6
Increased detection of co-morbidities with evaluation at a dedicated adult Turner syndrome clinic. ( 28753042 )
2017
7
Brachial Plexitis (Parsonage Turner Syndrome, Brachial Neuropathy, Brachial Radiculitis) ( 28846332 )
2017
8
Care of girls and women with Turner syndrome: beyond growth and hormones. ( 28336768 )
2017
9
Diagnosis of a Chinese man with 45,X/46,X,i(Y)(q10)/47,X,i(Y) (q10) A92 mosaic Turner syndrome. ( 28091398 )
2017
10
Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material. ( 28349385 )
2017
11
Congenital heart disease and cardiac procedural outcomes in patients with trisomy 21 and Turner syndrome. ( 28736822 )
2017
12
New international Turner syndrome guideline: a multi-society feat. ( 28705802 )
2017
13
Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome? ( 28774164 )
2017
14
Adult Height in Patients with Turner Syndrome and Association with Lifestyle-related Diseases after Human Growth Hormone Treatment in Japan. ( 28516754 )
2017
15
Atypical presentation of Parsonage-Turner syndrome confounded by surgical rotator cuff injury. ( 28739618 )
2017
16
Prepubertal ultra-low-dose estrogen therapy is associated with healthier lipid profile than conventional estrogen replacement for pubertal induction in adolescent girls with Turner syndrome: preliminary results. ( 28397183 )
2017
17
Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient. ( 28706617 )
2017
18
Pulmonary Vein Varices Are Syndromic Features in Turner Syndrome. ( 28463845 )
2017
19
Phrenic Nerve Palsy Secondary to Parsonage-Turner Syndrome: A Diagnosis Commonly Overlooked. ( 28138789 )
2017
20
The Electrodiagnostic Natural History of Parsonage-Turner Syndrome. ( 28044362 )
2017
21
Dosage of estradiol, bone and body composition in Turner syndrome: a 5-year randomized controlled clinical trial. ( 27881458 )
2017
22
Letter: Phrenic Nerve Palsy Secondary to Parsonage-Turner Syndrome. ( 28260176 )
2017
23
A case report of acute myelogenous leukemia with Turner Syndrome. ( 28924290 )
2017
24
Winging of the scapula diagnosed as Parsonage-Turner syndrome: a case report. ( 28853127 )
2017
25
Concurrent Van der Woude syndrome and Turner syndrome: A case report. ( 28228961 )
2017
26
Validation of auxological reference values for Japanese children with Noonan syndrome and comparison with growth in children with Turner syndrome. ( 28804206 )
2017
27
Increased Non-High-Density Lipoprotein Cholesterol in Children and Young Adults with Turner Syndrome Is Not Explained By BMI Alone. ( 28768282 )
2017
28
CHARACTERIZATION OF SPONTANEOUS AND INDUCED PUBERTY IN GIRLS WITH TURNER SYNDROME. ( 28332872 )
2017
29
Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study). ( 28496331 )
2017
30
Turner syndrome-specific and general population Z-scores are equivalent for most adults with Turner syndrome. ( 28328137 )
2017
31
Generation of an induced pluripotent stem cell line from chorionic villi of a Turner syndrome spontaneous abortion. ( 28412999 )
2017
32
Unilateral Foot Swelling in an Adolescent With Turner Syndrome. ( 28478723 )
2017
33
A Case of Alopecia Areata in a Patient with Turner Syndrome. ( 28785342 )
2017
34
Revision of the Growth References for Japanese Girls with Turner Syndrome. ( 28516753 )
2017
35
Complications related to Turner syndrome. ( 28389010 )
2017
36
Thyroid Autoimmunity in Girls with Turner Syndrome. ( 28456931 )
2017
37
Rebuttal: Adverse outcome of coarctation stenting in patients with Turner syndrome. ( 28417607 )
2017
38
Parsonage-Turner syndrome due to autochthonous acute genotype 3f hepatitis E virus infection in a nonimmunocompromised 55-year-old patient. ( 28439773 )
2017
39
Turner syndrome - growing pressure for more multidisciplinary clinics for adults and earlier diagnosis in children. ( 28862878 )
2017
40
Parsonage-Turner syndrome secondary to Lyme disease. ( 28549944 )
2017
41
Genetics: New insights into Turner syndrome. ( 28664923 )
2017
42
Attention deficit hyperactivity disorder (ADHD) in phenotypically similar neurogenetic conditions: Turner syndrome and the RASopathies. ( 28694877 )
2017
43
Clinical features of women with Turner syndrome experiencing transition period in Japan. ( 28331102 )
2017
44
Chiari I Malformation Associated with Turner Syndrome. ( 28479808 )
2017
45
Delay in estrogen commencement is associated with lower bone mineral density in Turner syndrome. ( 28523940 )
2017
46
Health-related quality of life among children with Turner syndrome: controlled cross-sectional study. ( 28753541 )
2017
47
A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome. ( 26949693 )
2016
48
A Multidisciplinary Approach to Puberty and Fertility in Girls with Turner Syndrome. ( 28508615 )
2016
49
Generalized pustular psoriasis associated with Turner syndrome and dilated cardiomyopathy. ( 26870904 )
2016
50
OS 24-05 IMPAIRED VASCULAR FUNCTION OF AORTA IN ADOLESCENT WITH TURNER SYNDROME. ( 27643051 )
2016

Variations for Turner Syndrome

Copy number variations for Turner Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 257178 X 1 9500000 Copy number turner syndrome
2 264275 X 63000000 64600000 Copy number turner syndrome

Expression for Turner Syndrome

Search GEO for disease gene expression data for Turner Syndrome.

Pathways for Turner Syndrome

GO Terms for Turner Syndrome

Cellular components related to Turner Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.97 BGLAP CGB3 GH1 GHR IGF1 IGFBP1
2 extracellular space GO:0005615 9.8 BGLAP GH1 GHR IGF1 IGFBP1 IGFBP3
3 insulin-like growth factor ternary complex GO:0042567 9.16 IGF1 IGFBP3
4 insulin-like growth factor binding protein complex GO:0016942 8.96 IGF1 IGFBP3
5 growth hormone receptor complex GO:0070195 8.62 GH1 GHR

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 osteoblast differentiation GO:0001649 9.67 BGLAP IGFBP3 SHOX2
2 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.61 GH1 GHR IGF1
3 sex differentiation GO:0007548 9.52 SRY TSPY1
4 positive regulation of JAK-STAT cascade GO:0046427 9.51 GH1 GHR
5 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.5 GH1 GHR IGF1
6 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.48 GH1 GHR
7 insulin-like growth factor receptor signaling pathway GO:0048009 9.46 GHR IGF1
8 hormone biosynthetic process GO:0042446 9.4 TG TPO
9 growth hormone receptor signaling pathway GO:0060396 9.37 GH1 GHR
10 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.26 IGFBP1 IGFBP3
11 skeletal system development GO:0001501 9.26 BGLAP IGF1 SHOX SHOX2
12 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.16 GHR SHOX2
13 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 8.8 GH1 IGF1 IGFBP3

Molecular functions related to Turner Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor binding GO:0005520 9.26 IGFBP1 IGFBP3
2 insulin-like growth factor I binding GO:0031994 9.16 IGFBP1 IGFBP3
3 insulin-like growth factor II binding GO:0031995 8.96 IGFBP1 IGFBP3
4 hormone activity GO:0005179 8.92 CGB3 GH1 IGF1 TG

Sources for Turner Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....