MCID: PSD047
MIFTS: 50

Pseudo-Turner Syndrome

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

MalaCards integrated aliases for Pseudo-Turner Syndrome:

Name: Pseudo-Turner Syndrome 19 5
Noonan Syndrome 71

Classifications:



External Ids:

UMLS 71 C0028326

Summaries for Pseudo-Turner Syndrome

MalaCards based summary: Pseudo-Turner Syndrome, also known as noonan syndrome, is related to noonan syndrome 1 and melphalan allergy. An important gene associated with Pseudo-Turner Syndrome is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are Apoptotic Pathways in Synovial Fibroblasts and ERK Signaling. The drugs Simvastatin and Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include bone, myeloid and heart, and related phenotypes are Decreased viability and Increased 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 28.1 SPRED2 SOS2 SOS1 SHOC2 RRAS2 RIT1
2 melphalan allergy 10.3 NRAS BRAF
3 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 10.3 PTPN11 CBL
4 acute megakaryoblastic leukemia in down syndrome 10.3 PTPN11 NRAS
5 capillary malformation-arteriovenous malformation 1 10.3 MAP2K1 KRAS
6 spitz nevus 10.3 HRAS BRAF
7 histiocytosis 10.3 NRAS MAP2K1 BRAF
8 trachea carcinoma in situ 10.2 KRAS HRAS
9 chronic myelogenous leukemia, bcr-abl1 positive 10.2 NRAS KRAS BRAF
10 noonan syndrome 7 10.2 SHOC2 BRAF
11 childhood leptomeningeal melanoma 10.2 NRAS HRAS
12 common bile duct neoplasm 10.2 KRAS HRAS
13 villonodular synovitis 10.2 SOS1 PTPN11
14 struma ovarii 10.2 NRAS KRAS BRAF
15 ampulla of vater benign neoplasm 10.2 KRAS HRAS
16 erdheim-chester disease 10.2 NRAS MAP2K1 BRAF
17 bladder urachal carcinoma 10.2 KRAS HRAS
18 hepatic flexure cancer 10.2 KRAS HRAS
19 vaginal carcinosarcoma 10.2 KRAS HRAS
20 urachus cancer 10.2 KRAS HRAS
21 adenosquamous lung carcinoma 10.2 KRAS HRAS
22 descending colon cancer 10.2 KRAS HRAS
23 malignant anus melanoma 10.2 NRAS HRAS
24 mucinous intrahepatic cholangiocarcinoma 10.2 KRAS HRAS
25 sigmoid neoplasm 10.2 KRAS HRAS
26 appendiceal neoplasm 10.2 KRAS HRAS
27 pancreatic mucinous cystadenoma 10.2 KRAS HRAS
28 transverse colon cancer 10.2 KRAS HRAS
29 meningeal melanomatosis 10.2 NRAS HRAS
30 lentigines 10.2 RAF1 PTPN11 BRAF
31 syringocystadenoma papilliferum 10.2 HRAS BRAF
32 liver angiosarcoma 10.2 KRAS HRAS
33 ascending colon cancer 10.2 KRAS HRAS
34 mucinous lung adenocarcinoma 10.2 KRAS HRAS
35 conjunctival nevus 10.2 NRAS HRAS
36 pilomyxoid astrocytoma 10.2 RAF1 KRAS BRAF
37 cystadenofibroma 10.2 KRAS HRAS
38 central nervous system melanocytic neoplasm 10.2 NRAS HRAS
39 thyroid carcinoma, familial medullary 10.2 RAF1 KRAS BRAF
40 endosalpingiosis 10.2 KRAS HRAS
41 ovarian mucinous neoplasm 10.2 KRAS HRAS
42 testicular spermatocytic seminoma 10.2 PTPN11 HRAS
43 malignant dermis tumor 10.2 NRAS HRAS
44 appendix adenocarcinoma 10.2 KRAS HRAS
45 vulvar melanoma 10.2 NRAS HRAS
46 malignant skin fibrous histiocytoma 10.2 NRAS HRAS
47 large cell carcinoma with rhabdoid phenotype 10.2 KRAS HRAS
48 malignant struma ovarii 10.2 NRAS HRAS
49 cecum adenocarcinoma 10.2 KRAS HRAS
50 biliary tract benign neoplasm 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:

25 (show all 39)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.58 CBL HRAS BRAF KRAS
2 Decreased viability GR00055-A-2 10.58 CBL HRAS BRAF KRAS
3 Decreased viability GR00055-A-3 10.58 KRAS
4 Decreased viability GR00106-A-0 10.58 KRAS
5 Decreased viability GR00107-A-1 10.58 MAP2K1
6 Decreased viability GR00221-A-1 10.58 HRAS NRAS KRAS
7 Decreased viability GR00221-A-2 10.58 CBL HRAS KRAS
8 Decreased viability GR00221-A-3 10.58 CBL HRAS MAP2K1 NRAS
9 Decreased viability GR00221-A-4 10.58 BRAF
10 Decreased viability GR00249-S 10.58 BRAF
11 Decreased viability GR00301-A 10.58 BRAF KRAS
12 Decreased viability GR00381-A-1 10.58 BRAF KRAS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.25 RAF1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.25 SOS1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.25 CBL SOS1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-148 10.25 SOS1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.25 BRAF CBL
18 Increased shRNA abundance (Z-score > 2) GR00366-A-150 10.25 RAF1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.25 CBL RAF1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-153 10.25 CBL
21 Increased shRNA abundance (Z-score > 2) GR00366-A-165 10.25 SOS1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.25 PTPN11
23 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.25 CBL
24 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10.25 CBL
25 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10.25 CBL
26 Increased shRNA abundance (Z-score > 2) GR00366-A-210 10.25 CBL
27 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.25 BRAF
28 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.25 RAF1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-68 10.25 SOS1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.25 PTPN11
31 Increased shRNA abundance (Z-score > 2) GR00366-A-72 10.25 RAF1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.25 PTPN11
33 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.25 CBL
34 Increased shRNA abundance (Z-score > 2) GR00366-A-91 10.25 SOS1
35 no effect GR00402-S-1 10.14 BRAF CBL HRAS KRAS LRRC56 LZTR1
36 no effect GR00402-S-2 10.14 BRAF CBL HRAS KRAS LRRC56 MAP2K1
37 Reduced mammosphere formation GR00396-S 9.61 BRAF HRAS KRAS NRAS PPP1CB PTPN11
38 Increased cell migration GR00055-A-1 9.56 SPRED2
39 Increased cell migration GR00055-A-3 9.56 SPRED2

MGI Mouse Phenotypes related to Pseudo-Turner Syndrome:

45 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.44 BRAF CBL HRAS KRAS LRRC56 LZTR1
2 homeostasis/metabolism MP:0005376 10.4 BRAF CBL HRAS KRAS LRRC56 MAP2K1
3 cardiovascular system MP:0005385 10.34 BRAF CBL HRAS KRAS LRRC56 LZTR1
4 normal MP:0002873 10.27 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
5 craniofacial MP:0005382 10.26 BRAF CBL HRAS KRAS LZTR1 MAP2K1
6 endocrine/exocrine gland MP:0005379 10.22 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
7 cellular MP:0005384 10.2 BRAF CBL KRAS LZTR1 MAP2K1 MAP2K2
8 neoplasm MP:0002006 10.19 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
9 digestive/alimentary MP:0005381 10.19 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
10 muscle MP:0005369 10.17 BRAF CBL HRAS KRAS LZTR1 PTPN11
11 immune system MP:0005387 10.14 BRAF CBL KRAS LRRC56 NRAS PTPN11
12 embryo MP:0005380 10.11 BRAF KRAS MAP2K1 NRAS PTPN11 RAF1
13 skeleton MP:0005390 10.1 BRAF CBL HRAS KRAS LZTR1 MAP2K1
14 hearing/vestibular/ear MP:0005377 10.09 BRAF CBL KRAS MAP2K1 MAP2K2 PTPN11
15 vision/eye MP:0005391 10 BRAF KRAS MAP2K1 MAP2K2 NRAS PTPN11
16 pigmentation MP:0001186 9.99 BRAF CBL KRAS NRAS PTPN11
17 respiratory system MP:0005388 9.97 BRAF CBL HRAS KRAS LRRC56 PTPN11
18 hematopoietic system MP:0005397 9.9 BRAF CBL KRAS LZTR1 NRAS PTPN11
19 mortality/aging MP:0010768 9.83 BRAF CBL HRAS KRAS LRRC56 LZTR1
20 integument MP:0010771 9.44 BRAF CBL HRAS KRAS LRRC56 MAP2K1

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 Antimetabolites Phase 3
3 Hypolipidemic Agents Phase 3
4 Anticholesteremic Agents Phase 3
5 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
6 Lipid Regulating Agents Phase 3
7 Hormones Phase 3
8 Hormone Antagonists Phase 3
9
Mecasermin Approved, Investigational Phase 2 68562-41-4
10 Insulin, Globin Zinc Phase 2
11
Insulin Phase 2
12 Mitogens Phase 2

Interventional clinical trials:

(show all 19)
# 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 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 Completed NCT02713945 Phase 3 Simvastatin;Placebo
3 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
4 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
5 Genetic Testing of Noonan Subjects Previously Treated With Norditropin® in the GHNOO-1658 Trial Completed NCT01529944 Phase 3 somatropin
6 A Study Comparing the Effect and Safety of Once Weekly Dosing of Somapacitan With Daily Norditropin® as Well as Evaluating Long-term Safety of Somapacitan in a Basket Study Design in Children With Short Stature Either Born Small for Gestational Age or With Turner Syndrome, Noonan Syndrome, or Idiopathic Short Stature Recruiting NCT05330325 Phase 3 Somapacitan;Norditropin®
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 Completed NCT02486731
10 Study of Metabolic Modifications in Children With Noonan Syndrome Completed NCT02383316
11 Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome) Completed NCT03435627 Somatropin
12 NordiNet® International Outcome Study-Observational Prospective Study on Patients Treated With Norditropin® Completed NCT00960128 somatropin
13 Investigation Into the Natural History and Metabolic and Molecular Basis of RASopathies. Recruiting NCT04395495
14 Constitution of a Biological Collection to Study the Pathophysiology in Noonan Syndrome and to Identify Predictive Factors of Disease Progression Recruiting NCT05202210
15 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
16 GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age Recruiting NCT04463316
17 Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies Recruiting NCT04888936
18 Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Phase III Randomized Controlled Trial Recruiting NCT05361811
19 French Registry of Children Treated With Norditropin® for Short Stature Associated With Noonan Syndrome Enrolling by invitation NCT05308927 Norditropin

Search NIH Clinical Center for Pseudo-Turner Syndrome

Genetic Tests for Pseudo-Turner Syndrome

Anatomical Context for Pseudo-Turner Syndrome

Organs/tissues related to Pseudo-Turner Syndrome:

MalaCards : Bone, Myeloid, Heart, Colon, Thyroid, Prostate, Lung

Publications for Pseudo-Turner Syndrome

Articles related to Pseudo-Turner Syndrome:

(show top 50) (show all 321)
# Title Authors PMID Year
1
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil. 5
33128510 2020
2
Nonimmune hydrops fetalis: identifying the underlying genetic etiology. 5
30410095 2019
3
Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions. 5
29907801 2019
4
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 5
29493581 2018
5
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. 5
30266093 2018
6
Psychopathological features in Noonan syndrome. 5
29037749 2018
7
Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders. 5
29084544 2017
8
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 5
28628100 2017
9
Visual perception skills: a comparison between patients with Noonan syndrome and 22q11.2 deletion syndrome. 5
28378436 2017
10
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. 5
28074573 2017
11
Progression in patients with low- and intermediate-1-risk del(5q) myelodysplastic syndromes is predicted by a limited subset of mutations. 5
27884971 2017
12
Parallel targeted next generation sequencing of childhood and adult acute myeloid leukemia patients reveals uniform genomic profile of the disease. 5
27460089 2016
13
RASopathy Gene Mutations in Melanoma. 5
27236105 2016
14
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. 5
26757980 2016
15
Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations. 5
26817465 2016
16
Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder. 5
26918529 2016
17
Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review. 5
26686981 2016
18
Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. 5
25959749 2016
19
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. 5
26714497 2016
20
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 5
26619011 2016
21
Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling. 5
26742426 2016
22
New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations. 5
26607044 2016
23
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. 5
26173643 2015
24
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas. 5
26214590 2015
25
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations. 5
25952305 2015
26
External ear anomalies and hearing impairment in Noonan Syndrome. 5
25862627 2015
27
A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant. 5
26266034 2015
28
Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation. 5
25706034 2015
29
PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. 5
25884655 2015
30
Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing. 5
25914815 2015
31
Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations. 5
25358541 2015
32
The usefulness of whole-exome sequencing in routine clinical practice. 5
24901346 2014
33
Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome. 5
25383899 2014
34
Further evidence of the importance of RIT1 in Noonan syndrome. 5
25124994 2014
35
Juvenile myelomonocytic leukaemia and Noonan syndrome. 5
25097206 2014
36
Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity. 5
24939608 2014
37
Next-generation sequencing identifies rare variants associated with Noonan syndrome. 5
25049390 2014
38
Oncogenic RIT1 mutations in lung adenocarcinoma. 5
24469055 2014
39
Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation. 5
23877478 2014
40
Clinical and Molecular Findings of Tunisian Patients with RASopathies. 5
25337068 2014
41
Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. 5
24935154 2014
42
RASSF1A inactivation unleashes a tumor suppressor/oncogene cascade with context-dependent consequences on cell cycle progression. 5
24732797 2014
43
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 5
24803665 2014
44
Coarctation of the aorta in Noonan-like syndrome with loose anagen hair. 5
24458596 2014
45
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. 5
24718990 2014
46
Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome. 5
24039098 2014
47
Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation. 5
24458587 2014
48
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 5
24767283 2014
49
CIIA negatively regulates the Ras-Erk1/2 signaling pathway through inhibiting the Ras-specific GEF activity of SOS1. 5
24522193 2014
50
Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome. 5
24150203 2014

Variations for Pseudo-Turner Syndrome

ClinVar genetic disease variations for Pseudo-Turner Syndrome:

5 (show top 50) (show all 702)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RIT1 NM_006912.6(RIT1):c.241G>C (p.Glu81Gln) SNV Pathogenic
183404 rs869025192 GRCh37: 1:155874290-155874290
GRCh38: 1:155904499-155904499
2 PTPN11 NM_002834.5(PTPN11):c.217_218delinsCT (p.Thr73Leu) INDEL Pathogenic
44604 rs397516802 GRCh37: 12:112888201-112888202
GRCh38: 12:112450397-112450398
3 RAF1 NM_002880.4(RAF1):c.786T>A (p.Asn262Lys) SNV Pathogenic
44634 rs397516829 GRCh37: 3:12645683-12645683
GRCh38: 3:12604184-12604184
4 RRAS2 NM_012250.6(RRAS2):c.65_73dup (p.Gly22_Gly24dup) DUP Pathogenic
626910 rs1591495776 GRCh37: 11:14380343-14380344
GRCh38: 11:14358797-14358798
5 RRAS2 NM_012250.6(RRAS2):c.68G>T (p.Gly23Val) SNV Pathogenic
626911 rs1591495779 GRCh37: 11:14380349-14380349
GRCh38: 11:14358803-14358803
6 RRAS2 NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr) SNV Pathogenic
626912 rs782457908 GRCh37: 11:14316397-14316397
GRCh38: 11:14294851-14294851
7 RRAS2 NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu) SNV Pathogenic
9447 rs113954997 GRCh37: 11:14316390-14316390
GRCh38: 11:14294844-14294844
8 RRAS2 NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) DUP Pathogenic
626913 rs1591495767 GRCh37: 11:14380338-14380339
GRCh38: 11:14358792-14358793
9 RIT1 NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) SNV Pathogenic
183406 rs869025194 GRCh37: 1:155874287-155874287
GRCh38: 1:155904496-155904496
10 SPRED2 NM_181784.3(SPRED2):c.187C>T (p.Arg63Ter) SNV Pathogenic
1210167 GRCh37: 2:65571870-65571870
GRCh38: 2:65344736-65344736
11 SPRED2 NM_181784.3(SPRED2):c.1142_1143del (p.Leu381fs) DEL Pathogenic
1209657 GRCh37: 2:65540749-65540750
GRCh38: 2:65313615-65313616
12 SPRED2 NM_181784.3(SPRED2):c.299T>C (p.Leu100Pro) SNV Pathogenic
1209658 GRCh37: 2:65561813-65561813
GRCh38: 2:65334679-65334679
13 PTPN11 NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) SNV Pathogenic
44603 rs397516801 GRCh37: 12:112888193-112888193
GRCh38: 12:112450389-112450389
14 CBL NM_005188.4(CBL):c.1096-1G>C SNV Pathogenic
45196 rs397517076 GRCh37: 11:119148875-119148875
GRCh38: 11:119278165-119278165
15 PTPN11 NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) SNV Pathogenic
164998 rs727503381 GRCh37: 12:112892440-112892440
GRCh38: 12:112454636-112454636
16 RAF1 NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) SNV Pathogenic
40605 rs121434594 GRCh37: 3:12645688-12645688
GRCh38: 3:12604189-12604189
17 CBL NM_005188.4(CBL):c.1096-1G>T SNV Pathogenic
180815 rs397517076 GRCh37: 11:119148875-119148875
GRCh38: 11:119278165-119278165
18 RIT1 NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) SNV Pathogenic
183401 rs869025189 GRCh37: 1:155880449-155880449
GRCh38: 1:155910658-155910658
19 SOS1 NM_005633.4(SOS1):c.1294T>C (p.Trp432Arg) SNV Pathogenic
12873 rs267607080 GRCh37: 2:39250275-39250275
GRCh38: 2:39023134-39023134
20 RAF1 NM_002880.4(RAF1):c.768G>T (p.Arg256Ser) SNV Pathogenic
40599 rs397516826 GRCh37: 3:12645701-12645701
GRCh38: 3:12604202-12604202
21 PTPN11 NM_002834.5(PTPN11):c.172A>C (p.Asn58His) SNV Pathogenic
40486 rs397507505 GRCh37: 12:112888156-112888156
GRCh38: 12:112450352-112450352
22 RAF1 NM_002880.4(RAF1):c.524A>G (p.His175Arg) SNV Pathogenic
40594 rs397516822 GRCh37: 3:12650322-12650322
GRCh38: 3:12608823-12608823
23 SOS1 NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro) SNV Pathogenic
40680 rs397517153 GRCh37: 2:39249920-39249920
GRCh38: 2:39022779-39022779
24 SOS1 NM_005633.4(SOS1):c.2183A>T (p.Lys728Ile) SNV Pathogenic
40699 rs397517156 GRCh37: 2:39239474-39239474
GRCh38: 2:39012333-39012333
25 KRAS NM_004985.5(KRAS):c.101C>T (p.Pro34Leu) SNV Pathogenic
40454 rs104894366 GRCh37: 12:25398218-25398218
GRCh38: 12:25245284-25245284
26 PTPN11 NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) SNV Pathogenic
40490 rs397507507 GRCh37: 12:112888162-112888162
GRCh38: 12:112450358-112450358
27 PTPN11 NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) SNV Pathogenic
40549 rs397507539 GRCh37: 12:112926851-112926851
GRCh38: 12:112489047-112489047
28 KRAS NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) SNV Pathogenic
12588 rs104894364 GRCh37: 12:25380285-25380285
GRCh38: 12:25227351-25227351
29 KRAS NM_004985.5(KRAS):c.214A>T (p.Met72Leu) SNV Pathogenic
179141 rs727504662 GRCh37: 12:25380244-25380244
GRCh38: 12:25227310-25227310
30 PTPN11 NM_002834.5(PTPN11):c.854T>G (p.Phe285Cys) SNV Pathogenic
40533 rs121918463 GRCh37: 12:112915455-112915455
GRCh38: 12:112477651-112477651
31 PTPN11 NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) SNV Pathogenic
40512 rs397507520 GRCh37: 12:112891083-112891083
GRCh38: 12:112453279-112453279
32 KRAS NM_004985.5(KRAS):c.466T>A (p.Phe156Ile) SNV Pathogenic
163758 rs397517042 GRCh37: 12:25362830-25362830
GRCh38: 12:25209896-25209896
33 BRAF NM_004333.6(BRAF):c.722C>A (p.Thr241Lys) SNV Pathogenic
44829 rs387906660 GRCh37: 7:140501350-140501350
GRCh38: 7:140801550-140801550
34 KRAS NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) SNV Pathogenic
12586 rs104894359 GRCh37: 12:25380280-25380280
GRCh38: 12:25227346-25227346
35 BRAF NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) SNV Pathogenic
Pathogenic
13965 rs180177034 GRCh37: 7:140501336-140501336
GRCh38: 7:140801536-140801536
36 BRAF NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) SNV Pathogenic
13977 rs180177038 GRCh37: 7:140477807-140477807
GRCh38: 7:140778007-140778007
37 BRAF NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) SNV Pathogenic
Uncertain Significance
177844 rs180177036 GRCh37: 7:140477853-140477853
GRCh38: 7:140778053-140778053
38 BRAF NM_004333.6(BRAF):c.722C>T (p.Thr241Met) SNV Pathogenic
29805 rs387906660 GRCh37: 7:140501350-140501350
GRCh38: 7:140801550-140801550
39 NRAS NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) SNV Pathogenic
13902 rs267606921 GRCh37: 1:115256562-115256562
GRCh38: 1:114713941-114713941
40 NRAS NM_002524.5(NRAS):c.35G>T (p.Gly12Val) SNV Pathogenic
40470 rs121913237 GRCh37: 1:115258747-115258747
GRCh38: 1:114716126-114716126
41 BRAF NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) SNV Pathogenic
44818 rs397507484 GRCh37: 7:140453133-140453133
GRCh38: 7:140753333-140753333
42 RAF1 NM_002880.4(RAF1):c.769T>C (p.Ser257Pro) SNV Pathogenic
40600 rs727505017 GRCh37: 3:12645700-12645700
GRCh38: 3:12604201-12604201
43 PTPN11 NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu) SNV Pathogenic
44615 rs397516810 GRCh37: 12:112915456-112915456
GRCh38: 12:112477652-112477652
44 SOS2 NM_006939.4(SOS2):c.800T>G (p.Met267Arg) SNV Pathogenic
577079 GRCh37: 14:50649239-50649239
GRCh38: 14:50182521-50182521
45 BRAF NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) SNV Pathogenic
13969 rs121913369 GRCh37: 7:140453146-140453146
GRCh38: 7:140753346-140753346
46 PTPN11 NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) SNV Pathogenic
40488 rs397507506 GRCh37: 12:112888158-112888158
GRCh38: 12:112450354-112450354
47 PTPN11 NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) SNV Pathogenic
40502 rs397507514 GRCh37: 12:112888212-112888212
GRCh38: 12:112450408-112450408
48 PTPN11 NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) SNV Pathogenic
40507 rs397507518 GRCh37: 12:112888312-112888312
GRCh38: 12:112450508-112450508
49 RAF1 NM_002880.4(RAF1):c.781C>A (p.Pro261Thr) SNV Pathogenic
40604 rs121434594 GRCh37: 3:12645688-12645688
GRCh38: 3:12604189-12604189
50 RAF1 NM_002880.4(RAF1):c.782C>G (p.Pro261Arg) SNV Pathogenic
40606 rs397516828 GRCh37: 3:12645687-12645687
GRCh38: 3:12604188-12604188

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 211)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.03 SOS2 SOS1 RRAS2 RAF1 PPP1CB NRAS
2
Show member pathways
14.02 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
3
Show member pathways
14.02 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
4 13.97 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
5
Show member pathways
13.89 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
6
Show member pathways
13.82 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
7
Show member pathways
13.8 HRAS KRAS MAP2K1 MAP2K2 NRAS PTPN11
8
Show member pathways
13.78 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
9
Show member pathways
13.76 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
10
Show member pathways
13.72 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
11
Show member pathways
13.65 SOS2 SOS1 RRAS2 RAF1 PPP1CB NRAS
12
Show member pathways
13.62 BRAF CBL HRAS KRAS MAP2K1 MAP2K2
13
Show member pathways
13.56 SOS2 SOS1 RRAS2 RAF1 PPP1CB NRAS
14
Show member pathways
13.53 SOS2 SOS1 RRAS2 RAF1 NRAS KRAS
15
Show member pathways
13.53 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
16
Show member pathways
13.5 SOS2 SOS1 PTPN11 NRAS MAP2K1 KRAS
17
Show member pathways
13.49 RRAS2 RAF1 PPP1CB NRAS MAP2K2 MAP2K1
18
Show member pathways
13.39 RRAS2 PTPN11 PPP1CB NRAS KRAS HRAS
19
Show member pathways
13.38 SOS1 RAF1 PTPN11 NRAS KRAS HRAS
20
Show member pathways
13.34 SOS2 SOS1 RRAS2 RAF1 PPP1CB NRAS
21
Show member pathways
13.31 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
22
Show member pathways
13.2 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
23
Show member pathways
13.2 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
24
Show member pathways
13.18 RRAS2 RAF1 NRAS MAP2K2 MAP2K1 KRAS
25
Show member pathways
13.15 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
26
Show member pathways
13.14 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K1
27
Show member pathways
13.13 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
28
Show member pathways
13.12 SOS2 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
29
Show member pathways
13.12 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
30
Show member pathways
13.12 SOS2 SOS1 RRAS2 RAF1 PPP1CB NRAS
31 13.11 SPRED2 SOS1 RIT1 PTPN11 NRAS MAP2K2
32
Show member pathways
13.07 RAF1 NRAS MAP2K2 MAP2K1 KRAS HRAS
33
Show member pathways
13.06 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
34
Show member pathways
13.03 SOS2 SOS1 RAF1 PTPN11 PPP1CB MAP2K2
35
Show member pathways
13.01 SOS1 PTPN11 NRAS KRAS HRAS
36
Show member pathways
13 SOS2 SOS1 RAF1 NRAS MAP2K2 MAP2K1
37
Show member pathways
12.99 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
38
Show member pathways
12.97 SOS2 SOS1 RRAS2 RAF1 PTPN11 NRAS
39
Show member pathways
12.96 RRAS2 RAF1 NRAS MAP2K2 MAP2K1 KRAS
40
Show member pathways
12.96 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
41
Show member pathways
12.96 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
42
Show member pathways
12.95 SOS2 SOS1 RRAS2 RAF1 NRAS MAP2K2
43
Show member pathways
12.94 SOS2 SOS1 RRAS2 RAF1 PPP1CB NRAS
44
Show member pathways
12.93 BRAF KRAS MAP2K1 MAP2K2 RAF1 SOS1
45
Show member pathways
12.91 HRAS KRAS MAP2K1 MAP2K2 PTPN11 RAF1
46
Show member pathways
12.88 BRAF CBL HRAS KRAS NRAS PTPN11
47
Show member pathways
12.87 SOS2 SOS1 RAF1 PPP1CB MAP2K2 MAP2K1
48
Show member pathways
12.86 SOS1 PTPN11 NRAS KRAS HRAS
49
Show member pathways
12.86 RAF1 PTPN11 NRAS MAP2K2 MAP2K1 KRAS
50
Show member pathways
12.86 SOS1 RIT1 PTPN11 NRAS MAP2K2 MAP2K1

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 Golgi apparatus GO:0005794 10.03 RRAS2 RAF1 NRAS MAP2K2 MAP2K1 LZTR1
2 focal adhesion GO:0005925 9.73 RRAS2 PPP1CB MAP2K2 MAP2K1 KRAS CBL
3 GTPase complex GO:1905360 8.92 SOS1 HRAS

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.38 BRAF CBL HRAS KRAS MAP2K1 NRAS
2 positive regulation of MAPK cascade GO:0043410 10.14 HRAS MAP2K1 MAP2K2 RAF1
3 fibroblast growth factor receptor signaling pathway GO:0008543 10.1 SOS1 SHOC2 PTPN11
4 ERK1 and ERK2 cascade GO:0070371 10.08 MAP2K2 MAP2K1 BRAF
5 epidermal growth factor receptor signaling pathway GO:0007173 10.08 BRAF CBL PTPN11 SOS1
6 thymus development GO:0048538 10.06 BRAF MAP2K1 MAP2K2 RAF1
7 positive regulation of axonogenesis GO:0050772 10.01 MAP2K2 MAP2K1 BRAF
8 neurotrophin TRK receptor signaling pathway GO:0048011 9.97 SOS1 RAF1 PTPN11
9 thyroid gland development GO:0030878 9.97 RAF1 MAP2K2 MAP2K1 BRAF
10 positive regulation of small GTPase mediated signal transduction GO:0051057 9.93 SOS2 SOS1
11 regulation of early endosome to late endosome transport GO:2000641 9.92 MAP2K2 MAP2K1
12 trachea formation GO:0060440 9.89 MAP2K2 MAP2K1
13 regulation of T cell differentiation in thymus GO:0033081 9.88 SOS2 SOS1
14 epithelial cell proliferation involved in lung morphogenesis GO:0060502 9.87 MAP2K1 MAP2K2
15 regulation of Golgi inheritance GO:0090170 9.86 MAP2K1 MAP2K2
16 MAPK cascade GO:0000165 9.86 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
17 regulation of pro-B cell differentiation GO:2000973 9.85 SOS1 SOS2
18 cerebellar cortex formation GO:0021697 9.83 PTPN11 MAP2K1
19 regulation of axon regeneration GO:0048679 9.83 MAP2K2 MAP2K1 BRAF
20 insulin receptor signaling pathway GO:0008286 9.81 SOS2 SOS1 RAF1 HRAS
21 positive regulation of protein serine/threonine kinase activity GO:0071902 9.8 KRAS MAP2K1 MAP2K2 RAF1 SOS1
22 face development GO:0060324 9.76 RAF1 MAP2K2 MAP2K1 BRAF
23 insulin-like growth factor receptor signaling pathway GO:0048009 9.62 SOS1 RAF1 MAP2K2 MAP2K1
24 lymphocyte homeostasis GO:0002260 9.61 SOS2 SOS1
25 positive regulation of miRNA maturation GO:1903800 9.58 MAP2K2 MAP2K1
26 Ras protein signal transduction GO:0007265 9.53 SOS2 SOS1 SHOC2 RRAS2 RIT1 NRAS

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

# Name GO ID Score Top Affiliating Genes
1 GTPase activity GO:0003924 10.07 RRAS2 RIT1 NRAS KRAS HRAS
2 hydrolase activity GO:0016787 9.95 RRAS2 RIT1 PTPN11 PPP1CB NRAS KRAS
3 nucleotide binding GO:0000166 9.91 BRAF HRAS KRAS MAP2K1 MAP2K2 NRAS
4 MAP kinase kinase activity GO:0004708 9.8 MAP2K2 MAP2K1 BRAF
5 G protein activity GO:0003925 9.76 RIT1 NRAS KRAS HRAS
6 GDP binding GO:0019003 9.65 RRAS2 RIT1 NRAS KRAS HRAS
7 protein serine/threonine kinase activator activity GO:0043539 9.23 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS

Sources for Pseudo-Turner Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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