MCID: PSD047
MIFTS: 52

Pseudo-Turner Syndrome

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

Aliases & Classifications for Pseudo-Turner Syndrome

MalaCards integrated aliases for Pseudo-Turner Syndrome:

Name: Pseudo-Turner Syndrome 20 6
Noonan Syndrome 70

Classifications:



External Ids:

UMLS 70 C0028326

Summaries for Pseudo-Turner Syndrome

MalaCards based summary : Pseudo-Turner Syndrome, also known as noonan syndrome, is related to noonan syndrome 1 and struma ovarii. An important gene associated with Pseudo-Turner Syndrome is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are Signaling by GPCR and Innate Immune System. The drugs Simvastatin and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and eye, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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:

(show top 50) (show all 160)
# Related Disease Score Top Affiliating Genes
1 noonan syndrome 1 28.2 SOS2 SOS1 SHOC2 RRAS2 RIT1 RAF1
2 struma ovarii 10.4 KRAS BRAF
3 urachal adenocarcinoma 10.4 KRAS BRAF
4 apocrine adenoma 10.4 KRAS BRAF
5 melphalan allergy 10.4 NRAS BRAF
6 serrated polyposis syndrome 10.3 KRAS BRAF
7 syringocystadenoma papilliferum 10.3 KRAS BRAF
8 pyogenic granuloma 10.3 NRAS KRAS
9 endosalpingiosis 10.3 KRAS BRAF
10 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 10.3 PTPN11 CBL
11 hepatic flexure cancer 10.3 KRAS HRAS
12 rosai-dorfman disease 10.3 MAP2K1 KRAS BRAF
13 trachea carcinoma in situ 10.3 KRAS HRAS
14 signet ring basal cell carcinoma 10.3 KRAS HRAS
15 cobblestone retinal degeneration 10.3 KRAS HRAS
16 immature teratoma of ovary 10.2 KRAS HRAS
17 pancreatic signet ring cell adenocarcinoma 10.2 KRAS HRAS
18 leopard syndrome 2 10.2 RAF1 PTPN11
19 descending colon cancer 10.2 KRAS HRAS
20 ampulla of vater benign neoplasm 10.2 KRAS HRAS
21 transverse colon cancer 10.2 KRAS HRAS
22 periampullary adenoma 10.2 KRAS HRAS
23 meningeal melanomatosis 10.2 NRAS HRAS
24 bone giant cell sarcoma 10.2 KRAS HRAS
25 appendiceal neoplasm 10.2 KRAS HRAS
26 langerhans cell histiocytosis 10.2 NRAS MAP2K1 BRAF
27 gallbladder benign neoplasm 10.2 KRAS HRAS
28 histiocytosis 10.2 NRAS MAP2K1 BRAF
29 malignant anus melanoma 10.2 NRAS HRAS
30 conjunctival nevus 10.2 NRAS HRAS
31 adenosquamous lung carcinoma 10.2 KRAS HRAS
32 appendix adenocarcinoma 10.2 KRAS HRAS
33 malignant dermis tumor 10.2 NRAS HRAS
34 central nervous system melanocytic neoplasm 10.2 NRAS HRAS
35 mucinous lung adenocarcinoma 10.2 KRAS HRAS
36 lentigines 10.2 RAF1 PTPN11 BRAF
37 malignant skin fibrous histiocytoma 10.2 NRAS HRAS
38 villonodular synovitis 10.2 SOS1 PTPN11
39 wolffian duct adenocarcinoma 10.2 KRAS HRAS
40 pilomyxoid astrocytoma 10.2 RAF1 KRAS BRAF
41 vulvar melanoma 10.2 NRAS HRAS
42 myh-associated polyposis 10.2 KRAS HRAS
43 thyroid carcinoma, familial medullary 10.2 RAF1 KRAS BRAF
44 ascending colon cancer 10.2 KRAS HRAS
45 biliary tract benign neoplasm 10.2 KRAS HRAS
46 pulmonic stenosis 10.2 SOS1 BRAF
47 ovarian mucinous neoplasm 10.2 KRAS HRAS
48 malignant exocrine pancreas neoplasm 10.2 KRAS HRAS
49 leopard syndrome 1 10.2 RAF1 PTPN11 BRAF
50 pancreatic acinar cell adenocarcinoma 10.2 KRAS HRAS

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



Diseases related to Pseudo-Turner Syndrome

Symptoms & Phenotypes for Pseudo-Turner Syndrome

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

26 (show all 42)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 10.32 SOS1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-110 10.32 BRAF
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.32 CBL
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-118 10.32 PTPN11
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-120 10.32 SOS1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 10.32 PTPN11
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-122 10.32 CBL
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-138 10.32 PTPN11
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.32 CBL
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.32 CBL
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 10.32 PTPN11 RAF1 SOS1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 10.32 RAF1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.32 BRAF
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.32 BRAF
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 10.32 PTPN11
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-194 10.32 BRAF
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 10.32 SOS1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.32 RAF1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 10.32 BRAF
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-31 10.32 BRAF
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-32 10.32 BRAF
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-37 10.32 PTPN11
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.32 CBL
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 10.32 CBL
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-47 10.32 PTPN11
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.32 SOS1
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.32 BRAF
28 Decreased viability GR00055-A-1 10.21 CBL HRAS BRAF KRAS
29 Decreased viability GR00055-A-2 10.21 CBL HRAS BRAF KRAS
30 Decreased viability GR00055-A-3 10.21 KRAS
31 Decreased viability GR00106-A-0 10.21 KRAS
32 Decreased viability GR00107-A-1 10.21 MAP2K1
33 Decreased viability GR00221-A-1 10.21 HRAS NRAS KRAS
34 Decreased viability GR00221-A-2 10.21 CBL HRAS KRAS
35 Decreased viability GR00221-A-3 10.21 CBL HRAS MAP2K1 NRAS
36 Decreased viability GR00221-A-4 10.21 BRAF
37 Decreased viability GR00249-S 10.21 BRAF
38 Decreased viability GR00301-A 10.21 BRAF KRAS
39 Decreased viability GR00381-A-1 10.21 BRAF KRAS
40 Decreased cell migration GR00055-A-1 9.91 SOS1 MAP2K2
41 Decreased cell migration GR00055-A-3 9.91 BRAF CBL HRAS
42 Reduced mammosphere formation GR00396-S 9.28 BRAF HRAS KRAS NRAS PPP1CB PTPN11

MGI Mouse Phenotypes related to Pseudo-Turner Syndrome:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.39 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
2 growth/size/body region MP:0005378 10.32 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
3 craniofacial MP:0005382 10.3 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
4 homeostasis/metabolism MP:0005376 10.29 BRAF CBL HRAS KRAS LRRC56 MAP2K1
5 mortality/aging MP:0010768 10.28 BRAF CBL HRAS KRAS LRRC56 MAP2K1
6 cellular MP:0005384 10.27 BRAF CBL KRAS MAP2K1 MAP2K2 NRAS
7 endocrine/exocrine gland MP:0005379 10.22 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
8 digestive/alimentary MP:0005381 10.2 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
9 integument MP:0010771 10.2 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
10 embryo MP:0005380 10.14 BRAF KRAS MAP2K1 NRAS PTPN11 RAF1
11 hearing/vestibular/ear MP:0005377 10.04 BRAF CBL KRAS MAP2K1 MAP2K2 PTPN11
12 normal MP:0002873 10.02 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
13 neoplasm MP:0002006 9.97 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
14 muscle MP:0005369 9.95 BRAF CBL HRAS KRAS PTPN11 RAF1
15 respiratory system MP:0005388 9.7 BRAF CBL HRAS KRAS PTPN11 RAF1
16 pigmentation MP:0001186 9.65 BRAF CBL KRAS NRAS PTPN11
17 skeleton MP:0005390 9.65 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
18 vision/eye MP:0005391 9.36 BRAF CBL KRAS MAP2K1 MAP2K2 NRAS

Drugs & Therapeutics for Pseudo-Turner Syndrome

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

(show all 12)
# 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 Phase 3
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
5 Antimetabolites Phase 3
6 Lipid Regulating Agents Phase 3
7 Anticholesteremic Agents Phase 3
8 Hypolipidemic Agents Phase 3
9
Mecasermin Approved, Investigational Phase 2 68562-41-4
10 insulin Phase 2
11 Mitogens Phase 2
12 Insulin, Globin Zinc Phase 2

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Genetic Testing of Noonan Subjects Previously Treated With Norditropin® in the GHNOO-1658 Trial Completed NCT01529944 Phase 3 somatropin;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 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
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 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
7 An Open Label Study to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2 MEK162
8 Consequences of Noonan Syndrome/LEOPARD Syndrome Associated Shp2 Mutations on Different Signaling Pathways Activation: Relationship With Hormonal Sensitivity Unknown status NCT02486731
9 Study of Metabolic Modifications in Children With Noonan Syndrome Completed NCT02383316
10 NordiNet® International Outcome Study-Observational Prospective Study on Patients Treated With Norditropin® Completed NCT00960128 somatropin;somatropin
11 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
12 GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age Recruiting NCT04463316
13 Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies. Recruiting NCT04395495
14 Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome) Active, not recruiting 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:

40
Myeloid, Bone, Eye, Cortex, Colon, Breast, Endothelial

Publications for Pseudo-Turner Syndrome

Articles related to Pseudo-Turner Syndrome:

(show top 50) (show all 1803)
# Title Authors PMID Year
1
Nonimmune hydrops fetalis: identifying the underlying genetic etiology. 61 6
30410095 2019
2
Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions. 6 61
29907801 2019
3
Psychopathological features in Noonan syndrome. 61 6
29037749 2018
4
Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders. 61 6
29084544 2017
5
Visual perception skills: a comparison between patients with Noonan syndrome and 22q11.2 deletion syndrome. 6 61
28378436 2017
6
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. 6 61
28074573 2017
7
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. 61 6
26757980 2016
8
Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations. 6 61
26817465 2016
9
Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. 6 61
25959749 2016
10
Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review. 61 6
26686981 2016
11
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. 61 6
26714497 2016
12
New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations. 6 61
26607044 2016
13
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. 61 6
26173643 2015
14
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations. 61 6
25952305 2015
15
External ear anomalies and hearing impairment in Noonan Syndrome. 6 61
25862627 2015
16
A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant. 6 61
26266034 2015
17
Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation. 6 61
25706034 2015
18
Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing. 61 6
25914815 2015
19
Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations. 61 6
25358541 2015
20
Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome. 61 6
25383899 2014
21
Further evidence of the importance of RIT1 in Noonan syndrome. 6 61
25124994 2014
22
Juvenile myelomonocytic leukaemia and Noonan syndrome. 61 6
25097206 2014
23
Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity. 6 61
24939608 2014
24
Next-generation sequencing identifies rare variants associated with Noonan syndrome. 61 6
25049390 2014
25
Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation. 6 61
23877478 2014
26
Clinical and Molecular Findings of Tunisian Patients with RASopathies. 6 61
25337068 2014
27
Coarctation of the aorta in Noonan-like syndrome with loose anagen hair. 61 6
24458596 2014
28
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. 61 6
24718990 2014
29
Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome. 61 6
24039098 2014
30
Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation. 6 61
24458587 2014
31
CIIA negatively regulates the Ras-Erk1/2 signaling pathway through inhibiting the Ras-specific GEF activity of SOS1. 6 61
24522193 2014
32
Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome. 6 61
24150203 2014
33
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 61 6
24628801 2014
34
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 61 6
24451042 2014
35
A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions. 6 61
24225993 2014
36
MAPK activation in mature cataract associated with Noonan syndrome. 61 6
24219368 2013
37
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. 6 61
23918763 2013
38
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. 6 61
23321623 2013
39
Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome. 6 61
23756559 2013
40
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. 6 61
23791108 2013
41
Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients. 6 61
23885229 2013
42
Protein tyrosine phosphatase SHP2/PTPN11 mistargeting as a consequence of SH2-domain point mutations associated with Noonan Syndrome and leukemia. 6 61
23584145 2013
43
Ulerythema ophryogenes, a rarely reported cutaneous manifestation of noonan syndrome: case report and review of the literature. 61 6
23673306 2013
44
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. 61 6
24775816 2013
45
NMR-based functional profiling of RASopathies and oncogenic RAS mutations. 6 61
23487764 2013
46
Clinical and molecular analysis of RASopathies in a group of Turkish patients. 6 61
22420426 2013
47
Atrioventricular canal defect in patients with RASopathies. 61 6
22781091 2013
48
IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene. 61 6
23624134 2013
49
[Clinical and molecular study of the Noonan syndrome]. 6 61
23513489 2012
50
Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. 6 61
22826437 2012

Variations for Pseudo-Turner Syndrome

ClinVar genetic disease variations for Pseudo-Turner Syndrome:

6 (show top 50) (show all 619)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRAS NM_004985.5(KRAS):c.214A>T (p.Met72Leu) SNV Pathogenic 179141 rs727504662 GRCh37: 12:25380244-25380244
GRCh38: 12:25227310-25227310
2 RIT1 NM_006912.6(RIT1):c.241G>C (p.Glu81Gln) SNV Pathogenic 183404 rs869025192 GRCh37: 1:155874290-155874290
GRCh38: 1:155904499-155904499
3 RIT1 NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) SNV Pathogenic 183406 rs869025194 GRCh37: 1:155874287-155874287
GRCh38: 1:155904496-155904496
4 BRAF NM_001374258.1(BRAF):c.722C>A (p.Thr241Lys) SNV Pathogenic 44829 rs387906660 GRCh37: 7:140501350-140501350
GRCh38: 7:140801550-140801550
5 RAF1 NM_001354689.3(RAF1):c.781C>A (p.Pro261Thr) SNV Pathogenic 40604 rs121434594 GRCh37: 3:12645688-12645688
GRCh38: 3:12604189-12604189
6 RRAS2 NM_012250.6(RRAS2):c.65_73dup (p.Gly22_Gly24dup) Duplication Pathogenic 626910 rs1591495776 GRCh37: 11:14380343-14380344
GRCh38: 11:14358797-14358798
7 RRAS2 NM_012250.6(RRAS2):c.68G>T (p.Gly23Val) SNV Pathogenic 626911 rs1591495779 GRCh37: 11:14380349-14380349
GRCh38: 11:14358803-14358803
8 RRAS2 NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr) SNV Pathogenic 626912 rs782457908 GRCh37: 11:14316397-14316397
GRCh38: 11:14294851-14294851
9 BRAF NM_001374258.1(BRAF):c.1621G>A (p.Glu541Lys) SNV Pathogenic 13977 rs180177038 GRCh37: 7:140477807-140477807
GRCh38: 7:140778007-140778007
10 SOS1 NM_005633.3(SOS1):c.1300G>A (p.Gly434Arg) SNV Pathogenic 40672 rs397517148 GRCh37: 2:39250269-39250269
GRCh38: 2:39023128-39023128
11 NRAS NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) SNV Pathogenic 13902 rs267606921 GRCh37: 1:115256562-115256562
GRCh38: 1:114713941-114713941
12 BRAF NM_001374258.1(BRAF):c.1575G>T (p.Leu525Phe) SNV Pathogenic 177844 rs180177036 GRCh37: 7:140477853-140477853
GRCh38: 7:140778053-140778053
13 SOS2 NM_006939.4(SOS2):c.800T>G (p.Met267Arg) SNV Pathogenic 577079 rs797045167 GRCh37: 14:50649239-50649239
GRCh38: 14:50182521-50182521
14 SOS1 NM_005633.3(SOS1):c.1297G>A (p.Glu433Lys) SNV Pathogenic 40669 rs397517147 GRCh37: 2:39250272-39250272
GRCh38: 2:39023131-39023131
15 SOS1 NM_005633.3(SOS1):c.1310T>C (p.Ile437Thr) SNV Pathogenic 45345 rs397517150 GRCh37: 2:39250259-39250259
GRCh38: 2:39023118-39023118
16 SOS1 NM_005633.3(SOS1):c.1649T>C (p.Leu550Pro) SNV Pathogenic 40680 rs397517153 GRCh37: 2:39249920-39249920
GRCh38: 2:39022779-39022779
17 SOS1 NM_005633.3(SOS1):c.1656G>T (p.Arg552Ser) SNV Pathogenic 40684 rs267607079 GRCh37: 2:39249913-39249913
GRCh38: 2:39022772-39022772
18 SOS1 NM_005633.3(SOS1):c.2183A>T (p.Lys728Ile) SNV Pathogenic 40699 rs397517156 GRCh37: 2:39239474-39239474
GRCh38: 2:39012333-39012333
19 SOS1 NM_005633.3(SOS1):c.2536G>A (p.Glu846Lys) SNV Pathogenic 40706 rs397517159 GRCh37: 2:39234309-39234309
GRCh38: 2:39007168-39007168
20 SOS1 NM_005633.3(SOS1):c.322G>A (p.Glu108Lys) SNV Pathogenic 40649 rs397517164 GRCh37: 2:39285837-39285837
GRCh38: 2:39058696-39058696
21 SOS1 NM_005633.3(SOS1):c.508A>G (p.Lys170Glu) SNV Pathogenic 40651 rs397517172 GRCh37: 2:39283845-39283845
GRCh38: 2:39056704-39056704
22 SOS1 NM_005633.3(SOS1):c.797C>A (p.Thr266Lys) SNV Pathogenic 12869 rs137852812 GRCh37: 2:39278352-39278352
GRCh38: 2:39051211-39051211
23 SOS1 NM_005633.3(SOS1):c.925G>T (p.Asp309Tyr) SNV Pathogenic 45379 rs397517180 GRCh37: 2:39262581-39262581
GRCh38: 2:39035440-39035440
24 KRAS NM_004985.5(KRAS):c.466T>A (p.Phe156Ile) SNV Pathogenic 163758 rs397517042 GRCh37: 12:25362830-25362830
GRCh38: 12:25209896-25209896
25 SOS1 NM_005633.3(SOS1):c.1322G>A (p.Cys441Tyr) SNV Pathogenic 40673 rs727504295 GRCh37: 2:39250247-39250247
GRCh38: 2:39023106-39023106
26 RAF1 NM_001354689.3(RAF1):c.769T>C (p.Ser257Pro) SNV Pathogenic 40600 rs727505017 GRCh37: 3:12645700-12645700
GRCh38: 3:12604201-12604201
27 BRAF NM_001374258.1(BRAF):c.736G>C (p.Ala246Pro) SNV Pathogenic 13965 rs180177034 GRCh37: 7:140501336-140501336
GRCh38: 7:140801536-140801536
28 NRAS NM_002524.5(NRAS):c.35G>T (p.Gly12Val) SNV Pathogenic 40470 rs121913237 GRCh37: 1:115258747-115258747
GRCh38: 1:114716126-114716126
29 RAF1 NM_001354689.3(RAF1):c.768G>T (p.Arg256Ser) SNV Pathogenic 40599 rs397516826 GRCh37: 3:12645701-12645701
GRCh38: 3:12604202-12604202
30 RAF1 NM_001354689.3(RAF1):c.782C>G (p.Pro261Arg) SNV Pathogenic 40606 rs397516828 GRCh37: 3:12645687-12645687
GRCh38: 3:12604188-12604188
31 RAF1 NM_001354689.3(RAF1):c.786T>A (p.Asn262Lys) SNV Pathogenic 44634 rs397516829 GRCh37: 3:12645683-12645683
GRCh38: 3:12604184-12604184
32 SOS1 NM_005633.3(SOS1):c.2104T>C (p.Tyr702His) SNV Pathogenic 40696 rs727505381 GRCh37: 2:39240664-39240664
GRCh38: 2:39013523-39013523
33 SOS1 NM_005633.3(SOS1):c.1656G>C (p.Arg552Ser) SNV Pathogenic 12872 rs267607079 GRCh37: 2:39249913-39249913
GRCh38: 2:39022772-39022772
34 NRAS NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) SNV Pathogenic 177778 rs121913250 GRCh37: 1:115258748-115258748
GRCh38: 1:114716127-114716127
35 RIT1 NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) SNV Pathogenic 183401 rs869025189 GRCh37: 1:155880449-155880449
GRCh38: 1:155910658-155910658
36 RIT1 NM_006912.6(RIT1):c.265T>C (p.Tyr89His) SNV Pathogenic 183411 rs869025197 GRCh37: 1:155874266-155874266
GRCh38: 1:155904475-155904475
37 RIT1 NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) SNV Pathogenic 183409 rs869025195 GRCh37: 1:155874284-155874284
GRCh38: 1:155904493-155904493
38 RIT1 NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) SNV Pathogenic 183407 rs869025194 GRCh37: 1:155874287-155874287
GRCh38: 1:155904496-155904496
39 RIT1 NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) SNV Pathogenic 183405 rs869025193 GRCh37: 1:155874289-155874289
GRCh38: 1:155904498-155904498
40 SOS1 NM_005633.3(SOS1):c.1655G>C (p.Arg552Thr) SNV Pathogenic 40682 rs397517154 GRCh37: 2:39249914-39249914
GRCh38: 2:39022773-39022773
41 SOS1 NM_005633.3(SOS1):c.806T>C (p.Met269Thr) SNV Pathogenic 40662 rs137852813 GRCh37: 2:39278343-39278343
GRCh38: 2:39051202-39051202
42 KRAS NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) SNV Pathogenic 12588 rs104894364 GRCh37: 12:25380285-25380285
GRCh38: 12:25227351-25227351
43 SOS1 NM_005633.3(SOS1):c.1294T>C (p.Trp432Arg) SNV Pathogenic 12873 rs267607080 GRCh37: 2:39250275-39250275
GRCh38: 2:39023134-39023134
44 RIT1 NM_006912.6(RIT1):c.270G>A (p.Met90Ile) SNV Pathogenic 120250 rs483352822 GRCh37: 1:155874261-155874261
GRCh38: 1:155904470-155904470
45 BRAF NM_001374258.1(BRAF):c.736G>C (p.Ala246Pro) SNV Pathogenic 13965 rs180177034 GRCh37: 7:140501336-140501336
GRCh38: 7:140801536-140801536
46 KRAS NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) SNV Pathogenic 12586 rs104894359 GRCh37: 12:25380280-25380280
GRCh38: 12:25227346-25227346
47 PPP1CB NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) SNV Pathogenic 254648 rs886037952 GRCh37: 2:28999810-28999810
GRCh38: 2:28776944-28776944
48 KRAS NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) SNV Pathogenic 45115 rs121913240 GRCh37: 12:25380276-25380276
GRCh38: 12:25227342-25227342
49 RIT1 NM_006912.6(RIT1):c.244T>G (p.Phe82Val) SNV Pathogenic 183408 rs869025194 GRCh37: 1:155874287-155874287
GRCh38: 1:155904496-155904496
50 BRAF NM_001374258.1(BRAF):c.1909C>G (p.Leu637Val) SNV Pathogenic 13969 rs121913369 GRCh37: 7:140453146-140453146
GRCh38: 7:140753346-140753346

Expression for Pseudo-Turner Syndrome

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

Pathways for Pseudo-Turner Syndrome

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

(show top 50) (show all 224)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.33 SOS2 SOS1 RIT1 RAF1 PTPN11 PPP1CB
2
Show member pathways
14.14 SOS1 RAF1 PTPN11 NRAS MAP2K2 MAP2K1
3
Show member pathways
14.03 SOS2 SOS1 RRAS2 RAF1 PPP1CB NRAS
4
Show member pathways
14.02 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
5
Show member pathways
13.98 SOS2 SOS1 RAF1 PPP1CB NRAS MAP2K2
6
Show member pathways
13.89 SOS1 RAF1 PTPN11 NRAS MAP2K2 MAP2K1
7
Show member pathways
13.89 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
8
Show member pathways
13.86 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
9
Show member pathways
13.79 SOS2 SOS1 RRAS2 RAF1 PTPN11 NRAS
10
Show member pathways
13.76 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
11
Show member pathways
13.72 SOS2 SOS1 RAF1 PTPN11 NRAS MAP2K2
12
Show member pathways
13.66 SOS2 SOS1 RRAS2 RAF1 PPP1CB NRAS
13
Show member pathways
13.6 SOS1 RAF1 PTPN11 NRAS MAP2K2 MAP2K1
14
Show member pathways
13.57 RAF1 NRAS MAP2K2 MAP2K1 KRAS HRAS
15
Show member pathways
13.57 SOS1 RAF1 PTPN11 NRAS KRAS HRAS
16
Show member pathways
13.57 SOS2 SOS1 RRAS2 RAF1 PPP1CB NRAS
17
Show member pathways
13.55 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
18
Show member pathways
13.53 SOS2 SOS1 RRAS2 RAF1 NRAS KRAS
19
Show member pathways
13.49 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
20
Show member pathways
13.45 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
21
Show member pathways
13.4 SOS1 RAF1 PTPN11 NRAS KRAS HRAS
22
Show member pathways
13.39 RRAS2 PTPN11 PPP1CB NRAS KRAS HRAS
23
Show member pathways
13.37 SOS2 SOS1 RRAS2 RAF1 PPP1CB NRAS
24
Show member pathways
13.32 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
25
Show member pathways
13.32 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
26
Show member pathways
13.32 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
27
Show member pathways
13.24 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
28
Show member pathways
13.21 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
29
Show member pathways
13.2 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
30
Show member pathways
13.19 RRAS2 RAF1 NRAS MAP2K2 MAP2K1 KRAS
31
Show member pathways
13.19 SOS2 SOS1 RRAS2 RAF1 PPP1CB NRAS
32
Show member pathways
13.18 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K1
33
Show member pathways
13.17 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
34 13.16 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
35
Show member pathways
13.16 SOS2 SOS1 RAF1 PTPN11 NRAS MAP2K2
36
Show member pathways
13.14 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
37
Show member pathways
13.13 RAF1 NRAS MAP2K2 MAP2K1 KRAS HRAS
38
Show member pathways
13.09 SOS2 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1
39
Show member pathways
13.09 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
40
Show member pathways
13.07 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
41 13.07 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
42
Show member pathways
12.99 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
43
Show member pathways
12.99 SOS2 SOS1 RAF1 PTPN11 NRAS MAP2K2
44
Show member pathways
12.98 SOS1 PTPN11 NRAS KRAS HRAS
45
Show member pathways
12.97 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
46
Show member pathways
12.97 RRAS2 RAF1 NRAS MAP2K2 MAP2K1 KRAS
47
Show member pathways
12.97 SOS2 SOS1 RAF1 PPP1CB NRAS MAP2K2
48
Show member pathways
12.94 SOS1 PTPN11 NRAS KRAS HRAS CBL
49
Show member pathways
12.94 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
50
Show member pathways
12.93 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 KRAS

GO Terms for Pseudo-Turner Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10 SOS1 RRAS2 RIT1 RAF1 PPP1CB NRAS
2 cytosol GO:0005829 9.73 SOS2 SOS1 SHOC2 RAF1 PTPN11 PPP1CB
3 Golgi apparatus GO:0005794 9.7 RRAS2 RAF1 NRAS MAP2K2 MAP2K1 HRAS
4 protein phosphatase type 1 complex GO:0000164 9.32 SHOC2 PPP1CB
5 focal adhesion GO:0005925 9.1 RRAS2 PPP1CB MAP2K2 MAP2K1 KRAS CBL

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.92 SOS1 PTPN11 KRAS CBL
2 signal transduction GO:0007165 9.9 SOS1 SHOC2 RRAS2 RIT1 RAF1 NRAS
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.84 PTPN11 MAP2K1 HRAS BRAF
4 activation of MAPK activity GO:0000187 9.81 PTPN11 MAP2K2 MAP2K1
5 small GTPase mediated signal transduction GO:0007264 9.8 SOS2 SOS1 HRAS
6 fibroblast growth factor receptor signaling pathway GO:0008543 9.77 SHOC2 PTPN11 CBL
7 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.73 RAF1 NRAS KRAS HRAS
8 thymus development GO:0048538 9.69 RAF1 MAP2K1 BRAF
9 interleukin-6-mediated signaling pathway GO:0070102 9.64 PTPN11 CBL
10 regulation of long-term neuronal synaptic plasticity GO:0048169 9.63 KRAS HRAS
11 regulation of T cell proliferation GO:0042129 9.62 SOS2 SOS1
12 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.61 MAP2K2 MAP2K1
13 regulation of stress-activated MAPK cascade GO:0032872 9.61 MAP2K2 MAP2K1
14 Bergmann glial cell differentiation GO:0060020 9.59 PTPN11 MAP2K1
15 lymphocyte homeostasis GO:0002260 9.58 SOS2 SOS1
16 regulation of early endosome to late endosome transport GO:2000641 9.58 MAP2K2 MAP2K1
17 thyroid gland development GO:0030878 9.58 RAF1 MAP2K1 BRAF
18 response to isolation stress GO:0035900 9.57 KRAS HRAS
19 positive regulation of small GTPase mediated signal transduction GO:0051057 9.56 SOS2 SOS1
20 epidermal growth factor receptor signaling pathway GO:0007173 9.56 SOS1 PTPN11 CBL BRAF
21 MAPK cascade GO:0000165 9.56 SOS1 RAF1 NRAS MAP2K2 MAP2K1 KRAS
22 regulation of axon regeneration GO:0048679 9.55 MAP2K1 BRAF
23 neurotrophin TRK receptor signaling pathway GO:0048011 9.54 SOS1 RAF1 PTPN11
24 regulation of T cell differentiation in thymus GO:0033081 9.52 SOS2 SOS1
25 face development GO:0060324 9.5 RAF1 MAP2K1 BRAF
26 regulation of pro-B cell differentiation GO:2000973 9.49 SOS2 SOS1
27 regulation of Golgi inheritance GO:0090170 9.48 MAP2K2 MAP2K1
28 cerebellar cortex formation GO:0021697 9.46 PTPN11 MAP2K1
29 Ras protein signal transduction GO:0007265 9.17 SOS1 SHOC2 RRAS2 RIT1 NRAS KRAS

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.36 SOS2 SOS1 SHOC2 RRAS2 RIT1 RAF1
2 hydrolase activity GO:0016787 10.02 RRAS2 RIT1 PTPN11 PPP1CB NRAS KRAS
3 protein-containing complex binding GO:0044877 9.72 RAF1 NRAS KRAS HRAS BRAF
4 protein tyrosine kinase activity GO:0004713 9.69 MAP2K2 MAP2K1 BRAF
5 GTP binding GO:0005525 9.65 RRAS2 RIT1 NRAS KRAS HRAS
6 nucleotide binding GO:0000166 9.61 RRAS2 RIT1 RAF1 NRAS MAP2K2 MAP2K1
7 GTPase activity GO:0003924 9.55 RRAS2 RIT1 NRAS KRAS HRAS
8 scaffold protein binding GO:0097110 9.54 MAP2K2 MAP2K1 BRAF
9 MAP kinase kinase activity GO:0004708 9.49 MAP2K2 MAP2K1
10 mitogen-activated protein kinase kinase binding GO:0031434 9.43 RAF1 BRAF
11 MAP-kinase scaffold activity GO:0005078 9.4 MAP2K2 MAP2K1
12 GDP binding GO:0019003 9.02 RRAS2 RIT1 NRAS KRAS HRAS

Sources for Pseudo-Turner Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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