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MCID: TRN020
MIFTS: 71

Turner Syndrome

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Turner Syndrome

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MalaCards integrated aliases for Turner Syndrome:

Name: Turner Syndrome 12 77 54 26 60 30 44 45 15 74
Monosomy X 12 77 26 60 74
Gonadal Dysgenesis Turner Type 77 54
Bonnevie-Ullrich Syndrome 12 74
Ullrich-Turner Syndrome 54 26
Gonadal Dysgenesis 54 74
Turner's Syndrome 77 26
Schereshevkii Turner Syndrome 54
Gonadal Dysgenesis - Turner 12
Bonnevie-Ulrich Syndrome 54
Gonadal Dysgenesis, 45,x 74
Chromosome X Monosomy X 54
Turner Varny Syndrome 54
Monosomy X Syndrome 12
45,x/46,xx Syndrome 60
Turners Syndrome 56
Syndrome, Turner 41
Karyotype 45, X 12
45, X Syndrome 54
45,x Syndrome 60
Xo Syndrome 12
45,x 26
Ts 26

Characteristics:

Orphanet epidemiological data:

60
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:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Nephrological diseases Reproductive diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Turner Syndrome

About this section
NIH Rare Diseases : 54 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 sex chromosome is either missing or structurally altered (females without Turner syndrome have two normal X chromosomes in each cell, and males have one X and one Y chromosome). 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.

MalaCards based summary : Turner Syndrome, also known as monosomy x, is related to premature ovarian failure 1 and growth hormone deficiency. An important gene associated with Turner Syndrome is SHOX (Short Stature Homeobox), and among its related pathways/superpathways are Metabolism of proteins and Regulation of lipid metabolism Insulin signaling-generic cascades. The drugs Sargramostim and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include thyroid, kidney and testes, and related phenotypes are short neck and osteopenia

Genetics Home Reference : 26 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 : 44 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 : 77 Turner syndrome (TS), also known as 45,X or 45,X0, is a condition in which a female is partly or... more...

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Related Diseases for Turner Syndrome

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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 Suite gene sharing:

(show top 50) (show all 715)
# Related Disease Score Top Affiliating Genes
1 premature ovarian failure 1 33.0 IGFBP3 SHBG SRY
2 growth hormone deficiency 30.8 GH1 IGF1 IGFBP3
3 complete androgen insensitivity syndrome 30.5 IGFBP3 SHBG SRY
4 slipped capital femoral epiphysis 30.3 IGF1 IGFBP3
5 47, xxy 30.2 IGFBP3 SHBG
6 leri-weill dyschondrosteosis 30.2 GHR SHOX SHOX2 SRY
7 47,xyy 30.1 IGFBP3 SRY
8 hyperprolactinemia 30.1 GH1 IGF1 SHBG
9 hypopituitarism 29.9 GH1 IGF1 IGFBP3 INS
10 pituitary hormone deficiency, combined, 2 29.8 GH1 GHR IGF1
11 secondary adrenal insufficiency 29.8 IGF1 IGFBP3 INS
12 craniopharyngioma 29.8 GH1 IGF1 INS
13 glucose intolerance 29.5 IGF1 IGFBP1 INS SHBG
14 silver-russell syndrome 29.5 GH1 IGF1 IGFBP1 IGFBP3
15 46 xy gonadal dysgenesis 29.4 CGB3 SHBG SRY
16 diabetes mellitus, noninsulin-dependent 29.4 GH1 IGF1 IGFBP1 IGFBP3 INS SHBG
17 ovarian disease 29.3 IGF1 IGFBP1 INS SHBG
18 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.3 INS TG TPO
19 anorexia nervosa 29.2 GH1 GHR IGF1 IGFBP1 IGFBP3
20 hyperinsulinism 29.2 GH1 IGF1 IGFBP1 IGFBP3 INS SHBG
21 prader-willi syndrome 29.2 GH1 GHR IGF1 IGFBP1 IGFBP3 INS
22 graves disease 1 29.2 INS TG TPO
23 osteoporosis 29.1 BGLAP GH1 GHR IGF1 IGFBP3 SHBG
24 hypothyroidism 29.0 GH1 IGF1 IGFBP3 SHBG TG TPO
25 acromegaly 28.9 GH1 GHR IGF1 IGFBP1 IGFBP3 INS
26 insulin-like growth factor i 28.6 BGLAP GH1 GHR IGF1 IGFBP1 IGFBP3
27 body mass index quantitative trait locus 11 28.6 GH1 GHR IGF1 IGFBP1 IGFBP3 INS
28 hyperthyroidism 28.4 BGLAP GH1 INS SHBG TG TPO
29 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 12.7
30 46 xx gonadal dysgenesis 12.6
31 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 12.5
32 parsonage turner syndrome 12.5
33 mental retardation, x-linked, syndromic, turner type 12.4
34 45,x/46,xy mixed gonadal dysgenesis 12.4
35 46,xy partial gonadal dysgenesis 12.4
36 alopecia universalis congenita, xy gonadal dysgenesis, and laryngomalacia 12.4
37 gonadal dysgenesis, xy type, with associated anomalies 12.3
38 ovarian dysgenesis 1 12.3
39 46,xx gonadal dysgenesis epibulbar dermoid 12.2
40 wilson-turner x-linked mental retardation syndrome 12.2
41 turner syndrome due to structural x chromosome anomalies 12.2
42 pseudo-turner syndrome 12.2
43 gilles de la tourette syndrome 12.2
44 noonan syndrome 1 11.9
45 46,xy sex reversal 4 11.9
46 virus-associated trichodysplasia spinulosa 11.8
47 46,xx sex reversal 1 11.7
48 46,xy sex reversal 3 11.7
49 46,xy sex reversal 6 11.7
50 46,xy sex reversal 7 11.7

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



Diseases related to Turner Syndrome
Sources

Symptoms & Phenotypes for Turner Syndrome

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Human phenotypes related to Turner Syndrome:

60 33 (show top 50) (show all 120)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000470
2 osteopenia 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000938
3 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002750
4 short stature 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004322
5 delayed puberty 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000823
6 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000939
7 increased circulating gonadotropin level 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000837
8 short sternum 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000879
9 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001511
10 cubitus valgus 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002967
11 wide intermamillary distance 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0006610
12 aplasia/hypoplasia of the nipples 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0006709
13 premature ovarian insufficiency 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008209
14 female infertility 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008222
15 postnatal growth retardation 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008897
16 increased upper to lower segment ratio 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0012774
17 high urinary gonadotropin level 33 hallmark (90%) HP:0003492
18 abnormal forearm bone morphology 33 hallmark (90%) HP:0040073
19 low-set ears 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000369
20 obesity 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001513
21 genu valgum 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002857
22 hypertension 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000822
23 kyphosis 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002808
24 hearing impairment 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000365
25 micrognathia 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000347
26 retrognathia 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000278
27 recurrent otitis media 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000403
28 webbed neck 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000465
29 thickened nuchal skin fold 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000474
30 broad neck 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000475
31 anxiety 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000739
32 impaired use of nonverbal behaviors 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000758
33 primary amenorrhea 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000786
34 secondary amenorrhea 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000869
35 hashimoto thyroiditis 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000872
36 shield chest 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000914
37 specific learning disability 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001328
38 hepatic steatosis 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001397
39 failure to thrive in infancy 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001531
40 hypoplastic toenails 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001800
41 low posterior hairline 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002162
42 high, narrow palate 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002705
43 elevated hepatic transaminase 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002910
44 dermatoglyphic ridges abnormal 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0005689
45 enlargement of the distal femoral epiphysis 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0006438
46 irregular proximal tibial epiphyses 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0006456
47 neck pterygia 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0009759
48 short 4th metacarpal 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0010044
49 short 5th metacarpal 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0010047
50 hypermobility of toe joints 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0010510

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

27 (show all 30)
# 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 BGLAP SHOX
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 BGLAP IGFBP1 SHBG SHOX TPO
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
30 Increased shRNA abundance GR00327-A 9.26 BGLAP CGB3 GH1 INS

MGI Mouse Phenotypes related to Turner Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.1 GHR IGF1 IGFBP3 SHOX2 TG TPO
Sources

Drugs & Therapeutics for Turner Syndrome

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

(show top 50) (show all 109)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sargramostim Approved, Investigational Phase 4 123774-72-1, 83869-56-1
2
Lenograstim Approved, Investigational Phase 4 135968-09-1
3
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-28-2 5757
4
Polyestradiol phosphate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 28014-46-2
5
Progesterone Approved, Vet_approved Phase 4,Phase 3,Not Applicable 57-83-0 5994
6
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Not Applicable 57-63-6 5991
7
Norethindrone Approved Phase 4,Not Applicable 68-22-4 6230
8
Ganirelix Approved Phase 4 124904-93-4, 123246-29-7 25081094
9
Vitamin C Approved, Nutraceutical Phase 4,Phase 3 50-81-7 54670067 5785
10
Lactitol Investigational Phase 4 585-88-6, 585-86-4 493591
11 Deslorelin Investigational, Vet_approved Phase 4 57773-65-6
12 Adjuvants, Immunologic Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
13 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
14 Hormones Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
15 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
17 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
18 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
20 Contraceptive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21 Norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination Phase 4
22 Progestins Phase 4,Phase 3,Not Applicable
23 Contraceptives, Oral Phase 4,Phase 3,Phase 2,Not Applicable
24 Norethindrone Acetate Phase 4,Not Applicable
25 Norinyl Phase 4
26 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1
27 Luteolytic Agents Phase 4
28 Triptorelin Pamoate Phase 4
29
Oxandrolone Approved, Investigational Phase 3,Phase 2,Phase 1 53-39-4 5878
30
Testosterone undecanoate Approved, Investigational Phase 3,Phase 1,Phase 2 5949-44-0
31
Methyltestosterone Approved Phase 3,Phase 1,Phase 2 58-18-4 6010
32
Testosterone enanthate Approved Phase 3,Phase 1,Phase 2 315-37-7 9416
33
Testosterone Approved, Experimental, Investigational Phase 3,Phase 2,Phase 1 58-22-0, 481-30-1 10204 6013
34
Medroxyprogesterone acetate Approved, Investigational Phase 3,Phase 2 71-58-9
35
Metronidazole Approved Phase 3 443-48-1 4173
36
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
37
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838
38
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1 53-43-0 9860744
39 Androgens Phase 3,Phase 2,Phase 1
40 Anabolic Agents Phase 3,Phase 2,Phase 1
41 Testosterone 17 beta-cypionate Phase 3,Phase 1,Phase 2
42 Trace Elements Phase 3,Phase 1
43 Antioxidants Phase 3
44 Estrogens, Conjugated (USP) Phase 3,Phase 1,Not Applicable
45 Protective Agents Phase 3
46 Vitamins Phase 3,Phase 2,Phase 1
47 Nutrients Phase 3,Phase 1
48 Micronutrients Phase 3,Phase 1
49
Medroxyprogesterone Phase 3,Phase 2 520-85-4 10631
50 Contraceptive Agents, Male Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 171)
# Name Status NCT ID Phase Drugs
1 Filgrastim for Premature Ovarian Insufficiency Unknown status NCT02783937 Phase 4 Saline
2 Effects of ADSC Therapy in Women With POF Unknown status NCT01853501 Phase 4
3 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 r-hGH
4 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
5 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4 estradiol
6 Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
7 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
8 Growth Response in Girls With Turner Syndrome Completed NCT01734486 Phase 4 somatropin;somatropin
9 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
10 Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome Completed NCT01518062 Phase 4 somatropin;somatropin;somatropin;oestrogen
11 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Completed NCT03015909 Phase 4 Somatropin
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 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)
15 Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure Not yet recruiting NCT03535480 Phase 4 G-CSF
16 The Effect of Androgen and Growth Hormone on Height and Learning in Girls With Turner Syndrome Completed NCT00029159 Phase 3 estrogen;androgen
17 The Effect of Growth Hormone in Very Young Girls With Turner Syndrome Completed NCT00406926 Phase 3 Somatropin
18 Somatropin Treatment to Final Height in Turner Syndrome Completed NCT00191113 Phase 3 Somatropin;Ethinyl estradiol;Medroxyprogesterone acetate
19 Use of Somatropin in Turner Syndrome Completed NCT01518036 Phase 3 somatropin;somatropin
20 Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome Completed NCT01710696 Phase 3 17-beta estradiol;17-beta estradiol
21 A Clinical Study to Assess the Efficacy and Safety of DA-3002 Completed NCT01813630 Phase 3 DA-3002;Genotropin®
22 Estrogen Treatment (Oral vs. Patches) in Turner Syndrome Completed NCT00140998 Phase 3 17 beta estradiol
23 An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG Completed NCT00250250 Phase 3 ZOMACTON
24 Somatropin Treatment in Patients With SHOX Deficiency and Turner Syndrome Completed NCT00190658 Phase 3 Somatropin (rDNA origin) for injection
25 Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq Completed NCT00234533 Phase 3 Somatropin (rDNA origin)
26 Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT01563926 Phase 3 somatropin
27 Primary Ovarian Insufficiency: Phenotype and Optimal Treatment Recruiting NCT03568708 Phase 3 Transdermal Estrogen
28 Study of Oral Dehydroepiandrosterone(DHEA) to Treat Previously Unexplained Infertility Terminated NCT00650754 Phase 2, Phase 3
29 Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF) Terminated NCT00948857 Phase 2, Phase 3
30 Effect of Exercise and Phytoestrogen on Bone, Metabolic Syndrome Criteria and Complaints of the Early Menopause Terminated NCT00663104 Phase 3
31 Hormone Replacement for Premature Ovarian Insufficiency Withdrawn NCT02922348 Phase 3 Hormone Replacement Therapy;Combined Oral Contraceptives
32 Human Umbilical Cord Mesenchymal Stem Cells (HUC-MSCs) Transplantation in Women With Primary Ovarian Insufficiency (POI) Unknown status NCT03033277 Phase 1, Phase 2
33 Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure Unknown status NCT02043743 Phase 1, Phase 2
34 Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF Unknown status NCT02644447 Phase 1, Phase 2
35 Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF) Unknown status NCT02603744 Phase 1, Phase 2
36 Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure Unknown status NCT02062931 Phase 1, Phase 2
37 Stem Cell Therapy Combined Hormone Replacement Therapy in Patients With Premature Ovarian Failure Unknown status NCT01742533 Phase 1, Phase 2 Hormone Replacement Therapy
38 Oxandrolone Compared With a Placebo on Growth Rate in Girls With Growth Hormone-Treated Turner's Syndrome Completed NCT00004275 Phase 2 growth hormone;oxandrolone
39 The Effects of Estrogen on Cognition in Girls With Turner Syndrome Completed NCT00001253 Phase 2
40 Effect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients With Turner Syndrome Completed NCT00001221 Phase 2 Growth Hormone (Humatrope)
41 Hormone Replacement Therapy to Treat Turner Syndrome Completed NCT00013546 Phase 2 TMTDS
42 The Effects of Hormones in Growth Hormone-Treated Girls With Turner Syndrome Completed NCT00001343 Phase 2 Humatrope;Oxandrolone
43 Chinese Medicine(Hu Yang Yang Kun Formula) for Primary Ovarian Insufficiency Completed NCT02794948 Phase 1, Phase 2
44 "It is a Real" The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure Completed NCT02372474 Phase 1, Phase 2
45 Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure Completed NCT02151890 Phase 1, Phase 2
46 GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients Completed NCT00429494 Phase 2 Leuprolide Acetate
47 Hormone Replacement in Young Women With Premature Ovarian Failure Completed NCT00001951 Phase 2 TMTDS
48 A Study of PEG-somatropin Injection to Treat Children of Turner Syndrome Recruiting NCT03189160 Phase 2
49 Effect of Testosterone Treatment on Embryo Quality Recruiting NCT01662466 Phase 1, Phase 2 Testosterone cream (0.5mg per gram);Placebo
50 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)

Search NIH Clinical Center for Turner Syndrome

Cochrane evidence based reviews: turner syndrome

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Genetic Tests for Turner Syndrome

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Genetic tests related to Turner Syndrome:

# Genetic test Affiliating Genes
1 Turner Syndrome 30
Sources

Anatomical Context for Turner Syndrome

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MalaCards organs/tissues related to Turner Syndrome:

42
Thyroid, Kidney, Testes, Ovary, Skin, Pituitary, Brain
Sources

Publications for Turner Syndrome

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Articles related to Turner Syndrome:

(show top 50) (show all 2056)
# Title Authors Year
1
Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study. ( 30642344 )
2019
2
Severe metabolic syndrome and primary amenorrhea as main pathophysiological features in a subtype of turner syndrome (46, X, del (X) Q 21). ( 30796876 )
2019
3
21-hydroxylase autoantibodies are more prevalent in Turner syndrome but without an association to the autoimmune polyendocrine syndrome type I. ( 30372540 )
2019
4
Many women with Turner syndrome lack protective antibodies to common respiratory pathogens, Haemophilus influenzae Type B and Streptococcus Pneumoniae. ( 30916795 )
2019
5
Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner Syndrome ( 29739732 )
2019
6
Biochemical and Clinical Features of Insulinoma in a Patient with Turner Syndrome. ( 30881705 )
2019
7
Medulloblastoma and secondary acute myeloid leukemia in a patient with Turner syndrome. ( 30536614 )
2019
8
Reducing false positive rate of fetal monosomy X in non-invasive prenatal testing using a combined algorithm to detect maternal mosaic monosomy X. ( 30719744 )
2019
9
A hypothesis: Could telomere length and/or epigenetic alterations contribute to infertility in females with Turner syndrome? ( 30741474 )
2019
10
A rare case of pure sensitive Parsonage-Turner syndrome. ( 30729338 )
2019
11
Teaching Video NeuroImages: Hourglass-like fascicular constriction in Parsonage-Turner syndrome. ( 31085734 )
2019
12
A case of pustular psoriasis possibly precipitated by estrogen/gestagen periodic therapy for Turner syndrome. ( 30963610 )
2019
13
Clinical update on sensorineural hearing loss in Turner syndrome and the X-chromosome. ( 30632288 )
2019
14
Diet and Lifestyle Role in Homocysteine Metabolism in Turner Syndrome. ( 30278440 )
2019
15
Impact of route of administration on genotoxic oestrogens concentrations using oral vs transdermal oestradiol in girls with Turner syndrome. ( 30281805 )
2019
16
The main predictors of the enlargement of ascending aorta in Turner syndrome: a cross-sectional contrast-enhanced magnetic resonance angiography study. ( 30290692 )
2019
17
Coronary anatomy in Turner syndrome versus patients with isolated bicuspid aortic valves. ( 30368485 )
2019
18
Aortic dilatation and outcome in women with Turner syndrome. ( 30368486 )
2019
19
Computed Tomography and Magnetic Resonance Imaging of Cardiovascular Anomalies Associated With Turner Syndrome. ( 30376482 )
2019
20
Social skills and relationships in Turner syndrome. ( 30407217 )
2019
21
Rare copy number variants in the genome of Chinese female children and adolescents with Turner syndrome. ( 30530863 )
2019
22
Five-Year Randomized Study Demonstrates Blood Pressure Increases in Young Women With Turner Syndrome Regardless of Estradiol Dose. ( 30571546 )
2019
23
Turner Syndrome. ( 30571573 )
2019
24
Hemispheric Module-Specific Influence of the X Chromosome on White Matter Connectivity: Evidence from Girls with Turner Syndrome. ( 30615091 )
2019
25
"Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome. ( 30633443 )
2019
26
Adrenarche and pubarche in girls with turner syndrome during growth-promoting therapy with human growth hormone. ( 30658614 )
2019
27
Detection of the SRY gene in patients with Turner Syndrome. ( 30685428 )
2019
28
Turner syndrome: New insights from prenatal genomics and transcriptomics. ( 30706680 )
2019
29
Oocyte quantity and quality are crucial for a perspective of fertility preservation in women with Turner syndrome. ( 30722942 )
2019
30
Effects of estrogen therapies on outcomes in Turner Syndrome: assessment of induction of puberty and adult estrogen use. ( 30726925 )
2019
31
The deep biology of cognition: Moving toward a comprehensive neurodevelopmental model of Turner syndrome. ( 30741475 )
2019
32
The Turner syndrome research registry: Creating equipoise between investigators and participants. ( 30758128 )
2019
33
How can we make pregnancy safe for women with Turner syndrome? ( 30767364 )
2019
34
Research priorities of people living with Turner syndrome. ( 30767373 )
2019
35
Clinical developmental, neuropsychological, and social-emotional features of Turner syndrome. ( 30767374 )
2019
36
The genetic basis of Turner syndrome aortopathy. ( 30770620 )
2019
37
The phenotype of a pig with monosomy X resembling Turner syndrome symptoms: a case report. ( 30773506 )
2019
38
Cardiometabolic health in Turner syndrome. ( 30775849 )
2019
39
The mouse as a model of fundamental concepts related to Turner syndrome. ( 30779420 )
2019
40
How do genes that escape from X-chromosome inactivation contribute to Turner syndrome? ( 30779428 )
2019
41
A strategic research alliance: Turner syndrome and sex differences. ( 30790449 )
2019
42
The state of Turner syndrome science: Are we on the threshold of discovery? ( 30790455 )
2019
43
Glucose Metabolism in Turner Syndrome. ( 30792694 )
2019
44
MANAGEMENT OF ENDOCRINE DISEASE: Transition of care for young adult patients with Turner syndrome ( 30793874 )
2019
45
Annual hearing screening in girls with Turner Syndrome: Results from the first three years in Glasgow. ( 30798112 )
2019
46
Sex hormone replacement therapy for individuals with Turner syndrome. ( 30809949 )
2019
47
The impact of somatic mosaicism on bicuspid aortic valve and aortic dissection in Turner Syndrome. ( 30810259 )
2019
48
Growth and growth hormone in Turner syndrome: Looking back, looking ahead. ( 30811776 )
2019
49
Epigenetics and genomics in Turner syndrome. ( 30811826 )
2019
50
Shox and Awe: A Case of Variant Turner Syndrome with an Unusual Phenotype. ( 30840602 )
2019
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Variations for Turner Syndrome

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Copy number variations for Turner Syndrome from CNVD:

7
# 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
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Expression for Turner Syndrome

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Search GEO for disease gene expression data for Turner Syndrome.
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Pathways for Turner Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Metabolism of proteins 67
Show member pathways
 13.45 BGLAP CGB3 GH1 IGF1 IGFBP1 IGFBP3
2
Regulation of lipid metabolism Insulin signaling-generic cascades 23
Show member pathways
 12.57 GH1 GHR IGF1 IGFBP3 INS
3
Adipogenesis 1
11.75 GH1 IGF1 INS
4
Peptide hormone metabolism 67
Show member pathways
 11.72 CGB3 GH1 IGF1 INS
5
Senescence and Autophagy in Cancer 1
11.63 IGF1 IGFBP3 INS
6
Endochondral Ossification 1
11.31 GH1 GHR IGF1
7
Differentiation Pathway 1
10.81 IGF1 INS TPO
8
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) 67
10.12 IGF1 IGFBP1 IGFBP3
9
Thyroxine (Thyroid Hormone) Production 1
10.03 TG TPO
Sources

GO Terms for Turner Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.81 BGLAP CGB3 GH1 GHR IGF1 IGFBP1
2 endoplasmic reticulum lumen GO:0005788 9.67 BGLAP IGFBP1 IGFBP3 INS
3 extracellular region GO:0005576 9.65 BGLAP CGB3 GH1 GHR IGF1 IGFBP1
4 endosome lumen GO:0031904 9.4 GH1 INS
5 insulin-like growth factor ternary complex GO:0042567 9.32 IGF1 IGFBP3
6 insulin-like growth factor binding protein complex GO:0016942 9.26 IGF1 IGFBP3
7 growth hormone receptor complex GO:0070195 8.62 GH1 GHR

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of MAPK cascade GO:0043410 9.73 IGF1 IGFBP3 INS
2 osteoblast differentiation GO:0001649 9.7 BGLAP IGFBP3 SHOX2
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.65 GH1 GHR IGF1
4 regulation of signaling receptor activity GO:0010469 9.65 CGB3 GH1 IGF1 INS TG
5 cellular protein metabolic process GO:0044267 9.62 IGF1 IGFBP1 IGFBP3 INS
6 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.58 GH1 IGF1 INS
7 sex differentiation GO:0007548 9.57 SRY TSPY1
8 positive regulation of glycolytic process GO:0045821 9.55 IGF1 INS
9 positive regulation of glycogen biosynthetic process GO:0045725 9.54 IGF1 INS
10 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.54 GH1 GHR IGF1
11 insulin-like growth factor receptor signaling pathway GO:0048009 9.51 GHR IGF1
12 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.49 GH1 GHR
13 growth hormone receptor signaling pathway GO:0060396 9.46 GH1 GHR
14 hormone biosynthetic process GO:0042446 9.43 TG TPO
15 skeletal system development GO:0001501 9.26 BGLAP IGF1 SHOX SHOX2
16 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.16 GHR SHOX2
17 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:

# Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor binding GO:0005520 9.4 IGFBP1 IGFBP3
2 insulin receptor binding GO:0005158 9.37 IGF1 INS
3 insulin-like growth factor receptor binding GO:0005159 9.32 IGF1 INS
4 insulin-like growth factor I binding GO:0031994 9.26 IGFBP1 IGFBP3
5 insulin-like growth factor II binding GO:0031995 9.16 IGFBP1 IGFBP3
6 growth factor binding GO:0019838 9.13 GHR IGFBP1 IGFBP3
7 hormone activity GO:0005179 9.02 CGB3 GH1 IGF1 INS TG
Sources

Sources for Turner Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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