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MCID: PSD047
MIFTS: 21

Pseudo-Turner Syndrome

Categories: Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases
Tissues Related diseases Publications Drugs
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Aliases & Classifications for Pseudo-Turner Syndrome

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MalaCards integrated aliases for Pseudo-Turner Syndrome:

Name: Pseudo-Turner Syndrome 52
Noonan Syndrome 71

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Nephrological diseases Reproductive diseases Skin diseases Endocrine diseases
See all MalaCards categories (disease lists)


External Ids:

UMLS 71 C0028326
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Summaries for Pseudo-Turner Syndrome

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MalaCards based summary : Pseudo-Turner Syndrome, also known as noonan syndrome, is related to noonan syndrome 1. The drugs Simvastatin and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and testes.

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Related Diseases for Pseudo-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 Pseudo-Turner Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 noonan syndrome 1 11.8

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Symptoms & Phenotypes for Pseudo-Turner Syndrome

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Drugs & Therapeutics for Pseudo-Turner Syndrome

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 3 79902-63-9 54454
2 Hormone Antagonists Phase 3
3 Lipid Regulating Agents Phase 3
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
5 Hypolipidemic Agents Phase 3
6 Anticholesteremic Agents Phase 3
7 Antimetabolites Phase 3
8
Lamotrigine Approved, Investigational Phase 2 84057-84-1 3878
9
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
10
Mecasermin Approved, Investigational Phase 2 68562-41-4
11 Hormones Phase 2
12 Sodium Channel Blockers Phase 2
13 Dihydromevinolin Phase 2
14 Psychotropic Drugs Phase 2
15 Antipsychotic Agents Phase 2
16 Diuretics, Potassium Sparing Phase 2
17 L 647318 Phase 2
18 Anticonvulsants Phase 2
19 Calcium, Dietary Phase 2
20 calcium channel blockers Phase 2
21 Natriuretic Peptide, C-Type Phase 2
22 Insulin, Globin Zinc Phase 2
23 Mitogens Phase 2
24 insulin Phase 2
25
Calcium Nutraceutical Phase 2 7440-70-2 271
26 Fluorides

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 A 52-week, Multi-centre, Randomised, Double-blind, Parallel-group, no Treatment Controlled (Open-label) Trial Investigating the Efficacy and Safety of Two Doses of NN-220 in Short Stature With Noonan Syndrome Completed NCT01927861 Phase 3 somatropin
2 Effect of the Growth Hormone MAXOMAT ® on the Growth of Small Children and Adolescents (<-2 SD) Due to NOONAN's Syndrome Completed NCT00452725 Phase 3 MAXOMAT ®, biosynthetic growth hormone
3 Genetic Testing of Noonan Subjects Previously Treated With Norditropin® in the GHNOO-1658 Trial Completed NCT01529944 Phase 3 somatropin;somatropin
4 Norditropin Treatment in Subjects With Noonan Syndrome. Effects on Linear Growth and Final Height - Data Collection and Follow-up Visit Completed NCT01529840 Phase 3 somatropin;somatropin
5 Treatment With HMG-COA Reductase Inhibitor (Simvastatin) of Growth and Bone Abnormalities in Children With Noonan Syndrome: A Phase III Randomised, Double Blind, Placebo-controlled Therapeutic Trial Recruiting NCT02713945 Phase 3 Simvastatin;Placebo
6 Improvement of Synaptic Plasticity and Cognitive Function in RAS Pathway Disorders Recruiting NCT03504501 Phase 2 Lovastatin;Lamotrigine
7 Vosoritide for Selected Genetic Causes of Short Stature Recruiting NCT04219007 Phase 2 Vosoritide
8 A Phase 2, Open-Label, Multicenter, Clinical Trial to Evaluate the Pharmacokinetics, Safety and Efficacy of Recombinant Human Insulin-Like Growth Factor-1/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 in Children With Growth Failure Due to Noonan Syndrome Terminated NCT00351221 Phase 2 rhIGF-1/rhIGFBP-3
9 An Open Label Study to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2 MEK162
10 Consequences of Noonan Syndrome/LEOPARD Syndrome Associated Shp2 Mutations on Different Signaling Pathways Activation: Relationship With Hormonal Sensitivity Unknown status NCT02486731
11 Study of Metabolic Modifications in Children With Noonan Syndrome Completed NCT02383316
12 NordiNet® International Outcome Study-Observational Prospective Study on Patients Treated With Norditropin® Completed NCT00960128 somatropin;somatropin
13 Effects of Physical Training on Bone and Muscle Quality, Muscle Strength, and Motor Coordination in Children With Neurofibromatosis Type 1 Completed NCT01058330
14 Evaluation of an Oral Health Intervention Program for Children With Congenital Heart Defects Completed NCT03311438
15 Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies. Recruiting NCT04395495
16 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
17 Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome) Enrolling by invitation NCT03435627 Somatropin
18 Hematological Anomalies in Children With Rasopathy Not yet recruiting NCT04286360

Search NIH Clinical Center for Pseudo-Turner Syndrome

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Genetic Tests for Pseudo-Turner Syndrome

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Anatomical Context for Pseudo-Turner Syndrome

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MalaCards organs/tissues related to Pseudo-Turner Syndrome:

40
Heart, Bone, Testes, Brain, Myeloid, Thyroid, Kidney
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Publications for Pseudo-Turner Syndrome

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Articles related to Pseudo-Turner Syndrome:

(show top 50) (show all 1598)
# Title Authors PMID Year
1
Repeating or spacing learning sessions are strategies for memory improvement with shared molecular and neuronal components. 61
32360730 2020
2
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants. 61
32233106 2020
3
Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts. 61
32240795 2020
4
The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension. 61
32502478 2020
5
The Clinical impact of PTPN11 mutations in adults with acute myeloid leukemia. 61
32561839 2020
6
GTP hydrolysis is modulated by Arg34 in the RASopathy-associated KRASP34R. 61
32187889 2020
7
Warfarin-induced impairment of bone material quality in a patient undergoing maintenance hemodialysis: A case report. 61
32569210 2020
8
Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation. 61
32112654 2020
9
A case report of Noonan syndrome-like disorder with loose anagen hair 2 treated with recombinant human growth hormone. 61
32476286 2020
10
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study. 61
32558384 2020
11
New Features for Child Metrics: Further Growth References and Blood Pressure Calculations 61
31475511 2020
12
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. 61
32546215 2020
13
Personality and Psychopathology in Adults with Noonan Syndrome. 61
31560100 2020
14
Noonan syndrome with multiple Giant cell lesions, management and treatment with surgery and interferon alpha-2a therapy: Case report. 61
32065515 2020
15
KBG syndrome in two patients from Egypt. 61
32222090 2020
16
Melanoma in Noonan Syndrome With Multiple Lentigines (Leopard Syndrome): A New Case. 61
32531240 2020
17
Investigating the reason for loss-of-function of Src homology 2 domain-containing protein tyrosine phosphatase 2 (SHP2) caused by Y279C mutation through molecular dynamics simulation. 61
31258001 2020
18
Comprehensive Genomic Analysis of Noonan Syndrome and Acute Myeloid Leukemia in Adults: A Review and Future Directions. 61
32541138 2020
19
Noonan syndrome on the African Continent. 61
32558383 2020
20
The Noonan syndrome-associated D61G variant of the protein tyrosine phosphatase SHP2 prevents synaptic down-scaling. 61
32499374 2020
21
SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro. 61
32493428 2020
22
Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model? 61
32514133 2020
23
Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1-associated Noonan syndrome: Expanding the phenotype and review of the literature. 61
32396283 2020
24
The Evaluation of Hematologic Screening and Perioperative Management in Patients with Noonan Syndrome: A Retrospective Chart Review. 61
32111381 2020
25
Growth hormone treatment at Nippon Medical School Chiba Hokusoh Hospital. 61
32475901 2020
26
Should cell-free DNA testing be used in pregnancy with increased fetal nuchal translucency? 61
31301176 2020
27
The Noonan Syndrome Gene Lztr1 Controls Cardiovascular Function by Regulating Vesicular Trafficking. 61
32175818 2020
28
Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia. 61
32144894 2020
29
Combined cardiac anomalies in Noonan syndrome: A case report. 61
32506025 2020
30
Young children with Noonan syndrome: evaluation of feeding problems. 61
32394265 2020
31
Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1-58 deletion: a case report. 61
32357851 2020
32
Systolic anterior motion of the posterior mitral leaflet in obstructive hypertrophic cardiomyopathy with Noonan syndrome. 61
32462482 2020
33
[Noonan syndrome: genetic and clinical update and treatment options]. 61
32493603 2020
34
Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1. 61
32107864 2020
35
Long-term efficacy and safety of two doses of Norditropin® (somatropin) in Noonan syndrome: a 4-year randomized, double-blind, multicenter trial in Japanese patients. 61
32269181 2020
36
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies. 61
31913576 2020
37
Mitral valve replacement and trans-mitral myectomy for a child with Noonan syndrome accompanied by hypertrophic obstructive cardiomyopathy. 61
30945161 2020
38
LZTR1-Related Hypertrophic Cardiomyopathy Without Typical Noonan Syndrome Features. 61
32004086 2020
39
Double-chambered right ventricle complicated by hypertrophic obstructive cardiomyopathy diagnosed as Noonan syndrome. 61
32078254 2020
40
Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics: Yield and Clinical Significance. 61
32150461 2020
41
Defining language disorders in children and adolescents with Noonan Syndrome. 61
32059087 2020
42
Noonan Syndrome and Acute Myeloid Leukemia in Adults: The Importance of a Correct Multidisciplinary Approach during Childhood. 61
32155617 2020
43
Connecting the dots between SHP2 and glutamate receptors. 61
32140036 2020
44
Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood. 61
32135567 2020
45
LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases. 61
31337872 2020
46
De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation. 61
31976149 2020
47
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia 61
31088041 2020
48
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment. 61
32022400 2020
49
[Clinical practice guidelines for Noonan syndrome]. 61
32128752 2020
50
Noonan syndrome-associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafish. 61
31883238 2020
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Variations for Pseudo-Turner Syndrome

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Expression for Pseudo-Turner Syndrome

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

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GO Terms for Pseudo-Turner Syndrome

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Sources for Pseudo-Turner Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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