MCID: PSD047
MIFTS: 22

Pseudo-Turner Syndrome

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

Aliases & Classifications for Pseudo-Turner Syndrome

MalaCards integrated aliases for Pseudo-Turner Syndrome:

Name: Pseudo-Turner Syndrome 53
Noonan Syndrome 72

Classifications:



External Ids:

UMLS 72 C0028326

Summaries for Pseudo-Turner Syndrome

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.

Related Diseases for Pseudo-Turner Syndrome

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

Symptoms & Phenotypes for Pseudo-Turner Syndrome

Drugs & Therapeutics for Pseudo-Turner Syndrome

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 3 79902-63-9 54454
2 Hormone Antagonists Phase 3
3 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
4 Lipid Regulating Agents Phase 3
5 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
6 Hypolipidemic Agents Phase 3
7 Antimetabolites Phase 3
8 Anticholesteremic Agents Phase 3
9
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
10
Lamotrigine Approved, Investigational Phase 2 84057-84-1 3878
11
Mecasermin Approved, Investigational Phase 2 68562-41-4
12
Zinc Approved, Investigational Phase 2 7440-66-6 32051
13
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
14 Hormones Phase 2
15 Sodium Channel Blockers Phase 2
16 Tranquilizing Agents Phase 2
17 Diuretics, Potassium Sparing Phase 2
18 L 647318 Phase 2
19 Dihydromevinolin Phase 2
20 Central Nervous System Depressants Phase 2
21 Antipsychotic Agents Phase 2
22 Psychotropic Drugs Phase 2
23 Anticonvulsants Phase 2
24 Calcium, Dietary Phase 2
25 calcium channel blockers Phase 2
26 insulin Phase 2
27 Mitogens Phase 2
28 Insulin, Globin Zinc Phase 2
29 Hypoglycemic Agents Phase 2
30 Cariostatic Agents
31 Fluorides
32 Protective Agents

Interventional clinical trials:

(show all 15)
# 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 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
8 An Open Label Study to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2 MEK162
9 Consequences of Noonan Syndrome/LEOPARD Syndrome Associated Shp2 Mutations on Different Signaling Pathways Activation: Relationship With Hormonal Sensitivity Unknown status NCT02486731
10 Study of Metabolic Modifications in Children With Noonan Syndrome Completed NCT02383316
11 NordiNet® International Outcome Study-Observational Prospective Study on Patients Treated With Norditropin® Completed NCT00960128 somatropin;somatropin
12 Effects of Physical Training on Bone and Muscle Quality, Muscle Strength, and Motor Coordination in Children With Neurofibromatosis Type 1 Completed NCT01058330
13 Evaluation of an Oral Health Intervention Program for Children With Congenital Heart Defects Completed NCT03311438
14 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
15 Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome) Enrolling by invitation NCT03435627 Somatropin

Search NIH Clinical Center for Pseudo-Turner Syndrome

Genetic Tests for Pseudo-Turner Syndrome

Anatomical Context for Pseudo-Turner Syndrome

MalaCards organs/tissues related to Pseudo-Turner Syndrome:

41
Heart, Bone, Testes, Brain, Myeloid, Thyroid, Kidney

Publications for Pseudo-Turner Syndrome

Articles related to Pseudo-Turner Syndrome:

(show top 50) (show all 1513)
# Title Authors PMID Year
1
Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers. 38
31173466 2019
2
Mek Inhibitor Reverses Hypertrophic Cardiomyopathy in RIT1 Mutated Noonan Syndrome: For the first time, hypertrophic cardiomyopathy was reversed in Noonan syndrome associated with a RIT1 mutation. 38
31355539 2019
3
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy. 38
31059601 2019
4
RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis. 38
31145547 2019
5
Sudden cardiac arrest in the field in an 18-year-old male athlete with Noonan syndrome: case presentation and 5-year follow-up. 38
31378211 2019
6
SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review. 38
31368652 2019
7
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. 38
31258001 2019
8
Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature. 38
31336229 2019
9
Noonan syndrome with multiple lentigines and prominent keratosis pilaris. 38
31210391 2019
10
Noonan Syndrome Case Report: PTPN11 and Other Potential Genetic Factors Contributing to Lethal Hypertrophic Right Ventricular Cardiomyopathy. 38
30665336 2019
11
Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations. 38
31277675 2019
12
Cardiac transplantation in children with Noonan syndrome. 38
31259454 2019
13
Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome. 38
31292302 2019
14
The relation between genetic heterogeneity and variability for response to growth hormone in Noonan syndrome. 38
31319646 2019
15
Correction: Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions. 38
30050098 2019
16
Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome. 38
30514065 2019
17
Inducible Pluripotent Stem Cell-Derived Cardiomyocytes Reveal Aberrant Extracellular Regulated Kinase 5 and Mitogen-Activated Protein Kinase Kinase 1/2 Signaling Concomitantly Promote Hypertrophic Cardiomyopathy in RAF1-Associated Noonan Syndrome. 38
31163979 2019
18
Phenotype delineation of ZNF462 related syndrome. 38
31361404 2019
19
Structural basis of the atypical activation mechanism of KRAS V14I. 38
31341022 2019
20
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. 38
31402090 2019
21
PTPN11 Gain-of-Function Mutations Affect the Developing Human Brain, Memory, and Attention. 38
30059958 2019
22
SHOC2 complex-driven RAF dimerization selectively contributes to ERK pathway dynamics. 38
31213532 2019
23
Treatment of Children with Growth Hormone in the US and Europe: Long-term Follow-up from NordiNet IOS and ANSWER Program. 38
31305924 2019
24
LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases. 38
31337872 2019
25
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. 38
31130282 2019
26
Two novel cases of autosomal recessive Noonan syndrome associated with LZTR1 variants. 38
31182298 2019
27
Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients. 38
31219622 2019
28
[Clinical and genetic analysis of a child with Noonan syndrome]. 38
31055812 2019
29
Impact of noonan syndrome on admissions for pediatric cardiac surgery. 38
31264394 2019
30
ECG in noonan syndrome: beyond the "normal abnormalities". 38
30895763 2019
31
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome. 38
31130285 2019
32
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics. 38
30908877 2019
33
Nonimmune hydrops fetalis: identifying the underlying genetic etiology. 38
30410095 2019
34
Out-of-hospital cardiac arrest and survival in a patient with Noonan syndrome and multiple lentigines: a case report. 38
31208451 2019
35
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation. 38
30417923 2019
36
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong. 38
30896080 2019
37
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome. 38
30859559 2019
38
Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients. 38
30854769 2019
39
Molecular Genetics of Noonan Syndrome and RASopathies. 38
31115195 2019
40
Endocrine Complications of Noonan Syndrome beyond Short Stature. 38
31115198 2019
41
Pathogenesis of Growth Failure in Rasopathies. 38
31115196 2019
42
Occurrence of high-grade glioma in Noonan syndrome: Report of two cases. 38
30693642 2019
43
Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis. 38
30989250 2019
44
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia 38
31088041 2019
45
The History of Noonan Syndrome. 38
31115193 2019
46
Functional robustness of adult spermatogonial stem cells after induction of hyperactive Hras. 38
31050682 2019
47
Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition. 38
31047013 2019
48
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy. 38
31108500 2019
49
Chondroblastoma-like mass of the temporal bone, secondary aneurysmal bone cyst, and intracerebral hemorrhage in a patient with cardiofaciocutaneous syndrome: case report. 38
31125963 2019
50
Clinical Manifestations of Noonan Syndrome and Related Disorders. 38
31115194 2019

Variations for Pseudo-Turner Syndrome

Expression for Pseudo-Turner Syndrome

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

Pathways for Pseudo-Turner Syndrome

GO Terms for Pseudo-Turner Syndrome

Sources for Pseudo-Turner Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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