TPFS
MCID: TRN074
MIFTS: 33

Turnpenny-Fry Syndrome (TPFS)

Categories: Genetic diseases

Aliases & Classifications for Turnpenny-Fry Syndrome

MalaCards integrated aliases for Turnpenny-Fry Syndrome:

Name: Turnpenny-Fry Syndrome 57 72 29 6
Neurocardioskeletal Syndrome 57 72
Tpfs 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable features


HPO:

31
turnpenny-fry syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Turnpenny-Fry Syndrome

OMIM® : 57 Turnpenny-Fry syndrome (TPFS) is characterized by developmental delay, impaired intellectual development, impaired growth, and recognizable facial features that include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic 'satyr' ears. Other common findings include feeding problems, constipation, and a range of brain, cardiac, vascular, and skeletal malformations (Turnpenny et al., 2018). (618371) (Updated 20-May-2021)

MalaCards based summary : Turnpenny-Fry Syndrome, is also known as neurocardioskeletal syndrome. An important gene associated with Turnpenny-Fry Syndrome is PCGF2 (Polycomb Group Ring Finger 2). The drugs taxane and Carboplatin have been mentioned in the context of this disorder. Affiliated tissues include lymph node, tongue and bone, and related phenotypes are polyhydramnios and drooling

UniProtKB/Swiss-Prot : 72 Turnpenny-Fry syndrome: A syndrome characterized by facial dysmorphism, intellectual disability, feeding problems, impaired growth, and a range of brain, cardiovascular, and skeletal abnormalities. Craniofacial features include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic ears.

Related Diseases for Turnpenny-Fry Syndrome

Symptoms & Phenotypes for Turnpenny-Fry Syndrome

Human phenotypes related to Turnpenny-Fry Syndrome:

31 (show top 50) (show all 64)
# Description HPO Frequency HPO Source Accession
1 polyhydramnios 31 very rare (1%) HP:0001561
2 drooling 31 very rare (1%) HP:0002307
3 intellectual disability 31 HP:0001249
4 failure to thrive 31 HP:0001508
5 frontal bossing 31 HP:0002007
6 dysarthria 31 HP:0001260
7 high palate 31 HP:0000218
8 global developmental delay 31 HP:0001263
9 delayed skeletal maturation 31 HP:0002750
10 mandibular prognathia 31 HP:0000303
11 widely spaced teeth 31 HP:0000687
12 dental malocclusion 31 HP:0000689
13 recurrent respiratory infections 31 HP:0002205
14 pectus carinatum 31 HP:0000768
15 microtia 31 HP:0008551
16 microcephaly 31 HP:0000252
17 gastroesophageal reflux 31 HP:0002020
18 feeding difficulties in infancy 31 HP:0008872
19 brachycephaly 31 HP:0000248
20 microdontia 31 HP:0000691
21 attention deficit hyperactivity disorder 31 HP:0007018
22 short sternum 31 HP:0000879
23 intrauterine growth retardation 31 HP:0001511
24 low-set ears 31 HP:0000369
25 pectus excavatum 31 HP:0000767
26 atrial septal defect 31 HP:0001631
27 mitral valve prolapse 31 HP:0001634
28 dental crowding 31 HP:0000678
29 narrow mouth 31 HP:0000160
30 conductive hearing impairment 31 HP:0000405
31 patent ductus arteriosus 31 HP:0001643
32 thin upper lip vermilion 31 HP:0000219
33 long face 31 HP:0000276
34 sparse scalp hair 31 HP:0002209
35 malar flattening 31 HP:0000272
36 broad forehead 31 HP:0000337
37 adducted thumb 31 HP:0001181
38 pes cavus 31 HP:0001761
39 narrow chest 31 HP:0000774
40 small hand 31 HP:0200055
41 tapered finger 31 HP:0001182
42 plagiocephaly 31 HP:0001357
43 long thorax 31 HP:0100818
44 hypoplasia of the corpus callosum 31 HP:0002079
45 torticollis 31 HP:0000473
46 autistic behavior 31 HP:0000729
47 cerebellar vermis hypoplasia 31 HP:0001320
48 tricuspid valve prolapse 31 HP:0001704
49 relative macrocephaly 31 HP:0004482
50 aortic regurgitation 31 HP:0001659

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive
intrauterine growth restriction (iugr)

Head And Neck Mouth:
high palate
thin upper lip
small mouth
drooling (in some patients)
open-mouth posture

Respiratory:
recurrent respiratory infections
obstructive sleep apnea

Head And Neck Head:
microcephaly
brachycephaly
plagiocephaly
relative macrocephaly

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties in infancy
chronic constipation, severe

Cardiovascular Heart:
atrial septal defect
mitral valve prolapse
tricuspid valve prolapse
aortic valve regurgitation, mild

Skeletal Feet:
pes cavus
clinodactyly
overlapping toes
valgus deformity
large great toes

Head And Neck Neck:
torticollis

Skeletal Spine:
thoracic kyphoscoliosis
lumbar lordosis
variable vertebral hypoplasia (uncommon)

Head And Neck Nose:
prominent nasal tip

Growth Weight:
low weight

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (in some patients)

Skeletal:
delayed bone age (uncommon)

Skin Nails Hair Hair:
sparse scalp hair (primarily temporal and frontal)

Head And Neck Face:
frontal bossing
mandibular prognathia
long face
broad forehead
malar hypoplasia
more
Head And Neck Teeth:
widely spaced teeth
dental crowding
malocclusion
small teeth
abnormal dentition (variable)
more
Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
short sternum
pectus excavatum

Skeletal Skull:
microcephaly
brachycephaly
plagiocephaly
relative macrocephaly

Head And Neck Ears:
low-set ears
small ears
conductive deafness
satyr ears

Cardiovascular Vascular:
patent ductus arteriosus
dilation of aortic root and/or ascending aorta
tortuosity of internal carotid arteries
tortuosity of vertebral arteries

Chest External Features:
long thorax
narrow thorax

Skeletal Hands:
long fingers
prominent interphalangeal joints
short fingers
small hands
tapering fingers
more
Head And Neck Eyes:
periorbital fullness
narrow palpebral fissures
transient corneal opacities (uncommon)
mild tortuosity of retinal vasculature

Neurologic Central Nervous System:
cavum septum pellucidum
developmental delay
dysarthric speech
thin corpus callosum
axial hypotonia
more
Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder
attention deficit-hyperactivity disorder
tactile sensitivity

Chest Diaphragm:
morgagni hernia, small

Skin Nails Hair Skin:
multiple pigmented nevi (scalp, neck, torso, in some patients)
hemangiomas (in some patients)

Clinical features from OMIM®:

618371 (Updated 20-May-2021)

Drugs & Therapeutics for Turnpenny-Fry Syndrome

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

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 taxane Phase 4
2
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
3
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
4
Gemcitabine Approved Phase 3 95058-81-4 60750
5
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
6
Fluorouracil Approved Phase 3 51-21-8 3385
7
Docetaxel Approved, Investigational Phase 3 114977-28-5 148124
8
Nimotuzumab Investigational Phase 3 780758-10-3, 828933-61-3
9 Antineoplastic Agents, Immunological Phase 3
10 Albumin-Bound Paclitaxel Phase 3
11 Antiviral Agents Phase 3
12 Anti-Infective Agents Phase 3
13
Cetuximab Approved Phase 2 205923-56-4 56842117 2333
14
Panitumumab Approved, Investigational Phase 2 339177-26-3 50070211
15
Lenograstim Approved, Investigational Phase 2 135968-09-1
16 Immunoglobulins Phase 2
17 Antibodies Phase 2
18 Antimitotic Agents Phase 2
19 Immunosuppressive Agents Phase 2
20 Tubulin Modulators Phase 2
21 Immunologic Factors Phase 2
22 Antimetabolites Phase 2
23 Adjuvants, Immunologic Phase 2
24
Lorazepam Approved Early Phase 1 846-49-1 3958
25
tannic acid Approved Early Phase 1 1401-55-4
26
Palonosetron Approved, Investigational Early Phase 1 135729-56-5, 119904-90-4 148211
27
Fluconazole Approved, Investigational Early Phase 1 86386-73-4 3365
28
Dexamethasone Approved, Investigational, Vet_approved Early Phase 1 50-02-2 5743
29
Nystatin Approved, Vet_approved Early Phase 1 1400-61-9 11953884
30
Magnesium Sulfate Approved, Investigational, Vet_approved Early Phase 1 7487-88-9 24083
31
Dexamethasone acetate Approved, Investigational, Vet_approved Early Phase 1 1177-87-3
32
Aprepitant Approved, Investigational Early Phase 1 170729-80-3 151165 6918365
33
Fosaprepitant Approved Early Phase 1 172673-20-0 219090
34
Benzocaine Approved, Investigational Early Phase 1 1994-09-7, 94-09-7 2337
35 Omega 3 Fatty Acid
36 Anesthetics Early Phase 1
37 valacyclovir Early Phase 1
38
Arginine Investigational, Nutraceutical 74-79-3 6322

Interventional clinical trials:

(show top 50) (show all 57)
# Name Status NCT ID Phase Drugs
1 Pharmacokinetics and Pharmacogenetics-based Adaptive Dosing of 5-fu (5-Fluorouracile) in Head & Neck Cancer Patient Undergoing Docetaxel, Cisplatin, 5-Fluorouracile (=TPF) Therapy Unknown status NCT02484677 Phase 4 Cisplatin;Docetaxel;5-Fluorouracile
2 Cisplatin and 5-fluorouracil(PF) or Docetaxel,Cisplatin and 5-fluorouracil (TPF) Neoadjuvant Chemotherapy With Chemoradiation Therapy for Locally Advanced Nasopharyngeal Carcinoma--A Randomised Prospective Multicenter Phase 3 Study Unknown status NCT01536223 Phase 3 PF (cisplatin and 5-fluorouracil) group;TPF (docetaxel plus cisplatin and 5-fluorouracil) group
3 A Multicenter, Randomized Controlled Phase III Clinical Trial of GP Induction Chemotherapy With TPF Adjuvant Chemotherapy Combined With DDP Concurrent Chemoradiotherapy in the Treatment of Locally Advanced Nasopharyngeal Carcinoma Unknown status NCT03604965 Phase 3 GP+CCRT;TPF+CCRT
4 Neoadjuvant Docetaxel+Cisplatin and 5-fluorouracil (TPF) Followed by Radiotherapy+Concomitant Chemo or Cetuximab Versus Radiotherapy+Concomitant Chemo or Cetuximab in Patients With Locally Advanced Squamous Cell Carcinoma of the Head and Neck. A Randomized Phase III Factorial Study. Completed NCT01086826 Phase 3 RT+CDDP/5-FU;RT+CETUXIMAB;INDUCTION CTx(TPF)+(RT+CDDP/5-FU);INDUCTION CTx(TPF)+(RT+CETUXIMAB)
5 Open Label Randomized, Multi-centre Phase III Trial of TPF Plus Concomitant Treatment With Cisplatin and Radiotherapy Versus Concomitant Cetuximab and Radiotherapy in Locally Advanced, Unresectable Head and Neck Cancer. Completed NCT00716391 Phase 3
6 Study of TPF (Docetaxel, Cisplatin, 5-fluorouracil) Induction Chemotherapy Followed by Surgery and Radiotherapy in Patients With Locally Advanced and Resectable Oral Squamous Cell Carcinoma Completed NCT01542931 Phase 2, Phase 3 TPF induction chemotherapy
7 Phase Ⅲ Study of Neoadjuvant TPF Chemotherapy Followed by Radiotherapy With Concurrent Nimotuzumab or Cisplatin for Locoregionally Advanced Nasopharyngeal Carcinoma (NPC). Completed NCT02012062 Phase 3 TPF neoadjuvant chemotherapy;Concurrent chemotherapy with cisplatin during radiotherapy;Concurrent nimotuzumab during radiotherapy
8 Randomized Phase III Trial Comparing Induction Chemotherapy With Cisplatin/5-fluorouracil (PF) or Docetaxel/Cisplatin/5-fluorouracil (TPF) Plus Chemoradiotherapy (CRT) Versus CRT Alone as First-line Treatment or Unresectable Locally Advanced Head and Neck Cancer (LAHNC). Completed NCT00261703 Phase 2, Phase 3 Docetaxel, Cisplatin, 5-fluorouracil (5-FU), radiotherapy;Cisplatin, 5-fluorouracil (5-FU), radiotherapy
9 A Randomized Phase III Multicenter Trial of Neoadjuvant Docetaxel (Taxotere®) Plus Cisplatin and 5-Fluorouracil (TPF) Versus Neoadjuvant Cisplatin Plus 5-Fluorouracil Followed by Concomitant Chemoradiotherapy to Improve the Overall Survival and Progression Free Survival in Patients With Locally Advanced Squamous Cell Carcinoma of the Head and Neck Completed NCT00273546 Phase 3 XRP6976 (Docetaxel/Taxotere)
10 A Randomized Phase III Comparing Sequential Therapy With TPF/Chemoradiation (ST) To Cisplatinum-Based Chemoradiotherapy [PARADIGM TRIAL] Completed NCT00095875 Phase 3 carboplatin;cisplatin;docetaxel;fluorouracil
11 A Multicenter, Randomized Controlled Phase III Clinical Trial of TPF Induction Chemotherapy Versus PF Adjuvant Chemotherapy Combined With Concurrent Chemoradiotherapy in the Treatment of Locally Advanced Nasopharyngeal Carcinoma Recruiting NCT03574324 Phase 3 TPF+CCRT;CCRT+PF
12 Phase III Trial of Laryngeal Preservation Comparing Induction Chemotherapy With Cisplatin, 5-fluorouracil and Docetaxel (TPF) Followed by Radiotherapy and Concomitant Administration of Radiotherapy With Cisplatin Recruiting NCT03340896 Phase 3 Docetaxel;Cisplatin;Fluorouracil
13 Phase Ⅲ Trial of Induction Chemotherapy(TPF) Followed by Concurrent Chemoradiotherapy Versus Concurrent Chemoradiotherapy Followed by Adjuvant Chemotherapy (PF) in Patients With High Risk Nasopharyngeal Carcinoma Recruiting NCT03306121 Phase 3 TPF+CCRT;CCRT+ PF
14 Induction Chemotherapy Plus Radiotherapy Alone Versus Induction Chemotherapy Plus Concurrent Chemoradiotherapy in Locoregionally Advanced Nasopharyngeal Carcinoma: a Phase 3, Multicentre, Randomised Controlled Trial Not yet recruiting NCT04414566 Phase 3 gemcitabine and cisplatin; docetaxel, cisplatin and fluorouracil
15 A Randomized, Multicenter, Phase III Trial Comparing Induction CT With Docetaxel, Cisplatin and 5-FU (TPF) Followed by Concurrent CT-RT to Concurrent CT Alone, in Nasopharyngeal Cancers Staged as T2b, T3, T4 and/or With Lymph Node Involvement (>N1) Terminated NCT00828386 Phase 3
16 Phase II Organ Preservation Trial Using Cisplatin Concomitant With Radiation Therapy in Advanced Laryngeal Cancer Patients Who Have Responded to Induction Chemotherapy With Taxotere, Cisplatin, and 5-Fluorouracil (TPF) Unknown status NCT01073683 Phase 2 Taxotere (Docetaxel), Cisplatin, 5FU
17 Phase II Study Comparing Gemcitabine Plus Cisplatin to Docetaxel, Cisplatin, and Fluorouracil Induction Chemotherapy Followed by Chemoradiotherapy in Locally Advanced Nasopharyngeal Carcinoma Unknown status NCT02016417 Phase 2 A combination of Gemcitabine and cisplatin;A combination of Docetaxel, cisplatin and 5-Fluorouracil
18 Phse II Study of Induction Chemotherapy With TPF Regimen Followed by Concurrent Chemoradiotherapy for Locally Advanced Nasopharyngeal Carcinoma Unknown status NCT00817583 Phase 2 docetaxel, cisplatin, fluorouracil
19 A Randomised Study of TPF as Neoadjuvant Chemotherapy Followed by Concomitant Chemoradiotherapy (CRT) With Conventional Radiotherapy (RT) Versus Concomitant CRT With Accelerated RT in Patients With Locally Advanced Head and Neck Squamous Cell Cancer (HNSCC) in Good Condition. The Condor Study. A Study of the Dutch Head and Neck Cancer Group (DHNCG). Unknown status NCT00774319 Phase 2
20 Paclitaxel In Combination With DDP and 5-FU(TPF) as Neoadjuvant Chemotherapy in Treating Boundary Resectable Advanced Esophageal Squamous Carcinoma: A Phase II Clinical Trial Unknown status NCT02976909 Phase 2 Paclitaxel+Cisplatin+5fluorouracil
21 Randomised Phase II Screening Study to be Used in an TP/TPF-chemotherapy (Short Induction) Before TP/TPF-induction, Radiotherapy With or Without Cetuximab in the Primary Therapy of the Only by Laryngectomy Operable Carcinoma of the Larynx/Hypopharynx Completed NCT00508664 Phase 2 Cetuximab;Docetaxel;Cisplatin (TP);5-Fluorouracil (TPF) (only until Feb 2009)
22 Randomized Phase II Study of Two Different Regimens of TPF Induction Chemotherapy Regimen Followed by Radiation Therapy Plus Cetuximab (TPF-CET-HART) vs. HART and Cis-platinum, 5-FU (PF-HART) in Patients With Locally Advanced Unresectable Squamous Cell Carcinomas of the Head and Neck Completed NCT01181401 Phase 2 TPF induction chemotherapy;TPF experimental
23 Phase II Study to Evaluate the Efficacy and Toxicity of Multimodality Treatment With Induction Taxotere/Cisplatin?5-FU (TPF) Chemotherapy Followed by Concomitant Cetuximab and Radiation Therapy in Patients With Locally Advanced Squamous Cell Carcinoma of the Head and Neck (SCCHN) Completed NCT00721513 Phase 2 cisplatin;docetaxel;fluorouracil
24 Phase I/II Study of Split-dose TPF-Induction Chemotherapy Before Surgery of Oropharyngeal and Cavity of the Mouth Cancer Completed NCT01108042 Phase 1, Phase 2 Taxotere, Cisplatin, 5-Fluorouracil (5-FU)
25 Concurrent Chemoradiation Versus Induction Docetaxel, Cisplatin and 5-fluorouracil (TPF) Followed by Concomitant Chemoradiotherapy in Locally Advanced Hypopharyngeal and Base of Tongue Cancer: A Randomized Phase II Study Completed NCT01312350 Phase 2 neoadjuvant docetaxel/cisplatin/fluorouracil;No treatment before definitive CCRT
26 A Phase II Trial With Radiotherapy Plus Cetuximab to Evaluate Specific Survival Free of Laryngectomy in Patients With Resectable and Locally Advanced Larynx Cancer, After Treatment With TPF Completed NCT00765011 Phase 2 TPF, radiotherapy and cetuximab
27 Phase II Study of Preoperative TPF Chemotherapy in Locally Advanced Resectable Oral Cavity Squamous Cell Cancer in Order to Improve the Rate of Pathological Complete Response Completed NCT01914900 Phase 2 docetaxel, cisplatin, 5 fluorouracil
28 Phase 2 Study of Nimotuzumab in Combination With TPF for Head and Neck Squamous Cell Carcinoma Completed NCT01425736 Phase 2 Chemotherapy;Nimotuzumab and Chemotherapy
29 Phase I/II Study of Docetaxel, Cisplatin and 5-fluorouracil(TPF) as 1st-line Chemotherapy in Patients With Metastatic Esophageal Cancer. Completed NCT00209690 Phase 1, Phase 2 Taxotere;5-FU;Briplatin
30 Phase I/II Study of Docetaxel, Cisplatin and 5-fluorouracil(TPF) as Chemotherapy in Pre-treated Patients With Metastatic Esophageal Cancer. Completed NCT00209716 Phase 1, Phase 2 Taxotere;5-Fluorouracil;Briplatin
31 A Randomized Phase II Trial of Low Stathmin Expression as a Predictive Biomarker for OSCC Patients Receiving TPF Induction Chemotherapy Followed by Radical Surgery and Radiotherapy/Chemoradiotherapy Recruiting NCT03326947 Phase 2 docetaxel, cisplatin and 5-fluorouracil
32 Prospective, Multicenter, and Nonrandomized Phase II Clinical Study on the Treatment of Locally Advanced NPC By Comparing TPF Induction Chemotherapy Combined With Nimotuzumab Concurrent Radiotherapy and Cisplatin Concurrent Radio-chemotherapy Recruiting NCT03557112 Phase 2 Nimotuzumab;Cisplatin
33 A Randomized Phase II Trial of TPF Induction Chemotherapy in cN2 Patients With Oral Squamous Cell Carcinoma Recruiting NCT02285543 Phase 2 TPF induction chemotherapy
34 Cyclin D1 Based TPF(Docetaxel, Cisplatin and 5-fluorouracil) Induction Chemotherapy for OSCC(Oral Squamous Cell Carcinoma) Patients at cN2(Clinical Node 2) Stage: a Phase II Randomized Controlled Trial Recruiting NCT02290145 Phase 2 TPF group
35 GDF15 (Growth Differentiation Factor 15) Based TPF Induction Chemotherapy for Oral Squamous Cell Carcinoma Patients at T3/T4cN0M0 Stage: a Phase II Randomized Controlled Trial Recruiting NCT02285530 Phase 2 TPF induction chemotherapy
36 Phase II Study of TPF Induction Chemotherapy Followed by Concurrent Chemoradiotherapy in Young Patients With Locoregionally Advanced Nasopharyngeal Carcinoma Recruiting NCT03020329 Phase 2 Paclitaxel liposome;Cisplatin;5-fu
37 Randomized Phase II Trial Contrasting Weekly Paclitaxel, Carboplatin and Cetuximab (PCC) With Cetuximab, Docetaxel, Cisplatin and Fluorouracil (C-TPF) in Previously Untreated Patients With Locally Advanced Head and Neck Squamous Cell Carcinoma Active, not recruiting NCT01154920 Phase 2 Paclitaxel;Carboplatin;Cetuximab;Docetaxel;Cisplatin;Fluorouracil
38 Toripalimab Plus TPF Inductive Chemotherapy and Definitive Radiotherapy for Resectable Locally Advanced Hypopharyngeal Squamous Cell Carcinoma, Efficacy and Safety: a Phase II Prospective Cohort Study Not yet recruiting NCT04624308 Phase 2 Toripalimab
39 A Randomized Phase II Study of Neoadjuvant PD-1 Blockade Alone or Plus TPF Induction Chemotherapy for Resectable Local Advanced Oral Squamous Cell Carcinoma Not yet recruiting NCT04649476 Phase 2 Camrelizumab;Camrelizumanb plus TPF
40 Induction Chemotherapy With TPF Followed by Radioimmunotherapy With Cetuximab and Intensity Modulated Radiotherapy (IMRT) Plus Carbon Ion Boost for Locally Advanced Tumors of the Oro-, Hypopharynx and Larynx: TPF-C-HIT Terminated NCT01245985 Phase 2
41 Phase II Study of TPF Induction Chemotherapy Followed by Hyperfractionated Radiotherapy With Cetuximab "Boost Concomitant" With Cetuximab in Patients With Local Advanced Larynx/Hypolarynx Carcinoma Terminated NCT00941135 Phase 2
42 A Phase II Study of Docetaxel/Cisplatin/5-Fluorouracil (TPF) Induction Chemotherapy Followed by Concurrent Chemoradiotherapy Using a Modified Radiation Dose in Patients With Newly Diagnosed HPV Positive, Locally Advanced Squamous Cell Carcinoma of the Oropharynx Terminated NCT01221753 Phase 2 docetaxel;cisplatin;5-FU;cetuximab;carboplatin
43 Randomized Phase II Feasibility Study of Cetuximab Combined With 4 Cycles of TPF Followed by Platinum Based Chemo-radiation Strategies Terminated NCT00646659 Phase 2 carboplatin;cisplatin;docetaxel;fluorouracil
44 A Phase II Organ Preservation Trial Using Cetuximab and Radiation Therapy in Advanced Laryngeal Cancer Patients Who Have Responded to One Cycle of Induction Chemotherapy With Taxotere, Cisplatin, 5-Fluorouracil (TPF), and Cetuximab Terminated NCT00599131 Phase 2 Cisplatin;Cetuximab;5-Fluorouracil;Docetaxel
45 Phase II Pilot Study of TPF (Docetaxel, Cisplatin, and 5-FU) Induction Chemotherapy Followed by Concurrent Cisplatin and Reduced Dose Radiation in Locally Advanced Head and Neck Cancer Terminated NCT00352118 Phase 2 cisplatin;docetaxel;fluorouracil
46 A Phase I Study of Cetuximab/Docetaxel(Taxotere)/Cisplatin/5-Fluorouracil (C-TPF) in Patients With Newly Diagnosed Locally Advanced Squamous Cell Carcinoma of the Head and Neck Completed NCT00402545 Phase 1 Cetuximab;Docetaxel;Cisplatin;5-Fluorouracil
47 Randomized Trial of Comparing One Cycle With Three Cycles Induction Chemotherapy Using Docetaxel, Cisplatin and Fluorouracil in Locoregionally Advanced Nasopharyngeal Carcinoma Unknown status NCT02096380 One cycle TPF induction chemotherapy for NPC;Three cycles TPF induction chemotherapy for NPC
48 Noninvasive Evaluation of Ischemia Causing Coronary Stenosis, Wall Shear Stress, and Total Plaque Force Using Coronary CT Angiography (CCTA) and Physics-based Analytic Model Derived From Conservation of Energy Unknown status NCT01857687
49 Hematologic Toxicity Observation of the TPF Medical Protocol. Description of the Impact of Febrile Neutropenia in Patients Who Receive the Chemotherapy of the TPF Medical Protocol in Head and Neck Cell Carcinoma Completed NCT01268878
50 Effects of Immunonutrition (Impact Oral®) in Patients Undergoing Surgery for Gastrointestinal Cancer Completed NCT03665714

Search NIH Clinical Center for Turnpenny-Fry Syndrome

Genetic Tests for Turnpenny-Fry Syndrome

Genetic tests related to Turnpenny-Fry Syndrome:

# Genetic test Affiliating Genes
1 Turnpenny-Fry Syndrome 29 PCGF2

Anatomical Context for Turnpenny-Fry Syndrome

MalaCards organs/tissues related to Turnpenny-Fry Syndrome:

40
Lymph Node, Tongue, Bone, Neutrophil, Breast

Publications for Turnpenny-Fry Syndrome

Articles related to Turnpenny-Fry Syndrome:

(show top 50) (show all 64)
# Title Authors PMID Year
1
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. 57 6
30343942 2018
2
Large-scale discovery of novel genetic causes of developmental disorders. 57
25533962 2015
3
Polycomb group proteins Ring1A/B link ubiquitylation of histone H2A to heritable gene silencing and X inactivation. 6
15525528 2004
4
Thoracolumbar Transverse Process Fractures Are More Frequently Associated with Nonspinal Injury than Clinically Significant Spine Fracture. 61
33271381 2021
5
Arthroscopically assisted evaluation of frequency and patterns of meniscal tears in operative tibial plateau fractures: a retrospective study. 61
33549145 2021
6
The Cambridge Experience With Tibial Plateau Fractures in Older Adults: A Case Series. 61
33738157 2021
7
Injury pattern simulation and mapping of complex tibial plateau fractures that involve the posterior plateau with three-dimensional computed tomography. 61
33708929 2021
8
3D modelling of tibial plateau fractures: Variability in fracture location and characteristics across Schatzker fracture types. 61
33531143 2021
9
Is traumatic meniscal lesion associated with acute fracture morphology changes of tibia plateau? A series of arthroscopic analysis of 67 patients. 61
33511174 2021
10
A strategy to prevent complications of hyperextension type tibial plateau fracture. 61
32715326 2021
11
Neutrophil to lymphocyte ratio and fracture severity in young and middle-aged patients with tibial plateau fractures. 61
32897401 2020
12
Sequential chemotherapy after definitive radiotherapy in markedly elderly patients with advanced esophageal cancer. 61
33402604 2020
13
Risk factors for deep surgical site infection in patients with operatively treated tibial plateau fractures: A retrospective multicenter study. 61
33177429 2020
14
Position statement by the Pelvic Floor Society on behalf of the Association of Coloproctology of Great Britain and Ireland on the use of mesh in ventral mesh rectopexy. 61
28926174 2020
15
Arthroscopic evaluation for tibial plateau fractures on the incidence and types of cruciate ligamentous injuries following closed reduction and internal fixation. 61
33123747 2020
16
Does a staged treatment of high energy tibial plateau fractures affect functional results and bony union? A case series. 61
32249025 2020
17
Iatrogenic Peroneal Nerve Palsy Rates Secondary to Open Reduction Internal Fixation for Tibial Plateau Fractures Using an Intraoperative Distractor. 61
32032182 2020
18
3D mapping and classification of tibial plateau fractures. 61
32728424 2020
19
Downregulation of PD-L1 via amide analogues of brefelamide: Alternatives to antibody-based cancer immunotherapy. 61
32256803 2020
20
A New Approach to Surgical Management of Tibial Plateau Fractures. 61
32110908 2020
21
Flavonoids compounds from Tridax procumbens inhibit osteoclast differentiation by down-regulating c-Fos activation. 61
31919976 2020
22
Therapeutic and Mechanistic Approaches of Tridax Procumbens Flavonoids for the Treatment of Osteoporosis. 61
32682372 2020
23
Value of three-dimensional computed tomography reconstruction in the treatment of posterior tibial plateau fractures. 61
31883761 2020
24
Relationship Between the Incidence of Deep Vein Thrombosis During Hospitalization and the Energy of Injury in Tibial Plateau Fractures. 61
32988241 2020
25
A combined tension-band braided polyester and suture button technique is a valuable treatment alternative for transverse patellar fractures in athletes. 61
30617732 2019
26
A combined prone and supine approaches for complex three column tibial plateau fracture with posterolateral articular injury. 61
31543317 2019
27
Reliability and repeatability of tibial plateau fracture assessment with an injury mechanism-based concept. 61
31537993 2019
28
Automated Breast Density Measurements From Chest Computed Tomography Scans. 61
31230138 2019
29
Correlation between preoperative imaging parameters and postoperative basic kinematics-based functional outcome in patients with tibial plateau fractures. 61
31005694 2019
30
Characterization of raw and alkali treated new natural cellulosic fibers from Tridax procumbens. 61
30528990 2019
31
SWITCH II: Phase III randomized, sequential, open-label study to evaluate the efficacy and safety of sorafenib-pazopanib versus pazopanib-sorafenib in the treatment of advanced or metastatic renal cell carcinoma (AUO AN 33/11). 61
30529901 2019
32
Computed tomography of bicondylar tibial plateau fractures after distraction with a bridging external fixation. 61
29484471 2018
33
Agility MLC transmission optimization in the Monaco treatment planning system. 61
29959822 2018
34
Staged Treatment of Bicondylar Tibial Plateau Fracture (Schatzker Type V or VI) Using Temporary External Fixator: Correlation between Clinical and Radiological Outcomes. 61
29554716 2018
35
From Tetraphenylfurans to Ring-Opened (Z)-1,4-Enediones: ACQ Fluorophores versus AIEgens with Distinct Responses to Mechanical Force and Light. 61
29956386 2018
36
Why tibial plateau fractures are overlooked. 61
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Effect of BMI on outcomes of surgical treatment for tibial plateau fractures: A comparative retrospective case series study. 61
29598844 2018
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Tibial plateau fractures: Fracture patterns and computed tomography evaluation of tibial plateau fractures in winter sports. 61
29770177 2018
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Characteristics of postoperative weight bearing and management protocols for tibial plateau fractures: Findings from a scoping review. 61
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29245960 2017
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The Application of a Novel Ceramic Liner Improves Bonding between Zirconia and Veneering Porcelain. 61
28869512 2017
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Vertebral artery injury in patients with isolated transverse process fractures. 61
28318982 2017
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Minimally invasive fixation in tibial plateau fractures using an pre-operative and intra-operative real size 3D printing. 61
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Skiers and snowboarders have improved short-term outcomes with immediate fixation of tibial plateau fractures. 61
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Tapered Polymer Fiber Sensors for Reinforced Concrete Beam Vibration Detection. 61
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Circulating levels of adiponectin, resistin, and visfatin after mud-bath therapy in patients with bilateral knee osteoarthritis. 61
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Tridax procumbens flavonoids promote osteoblast differentiation and bone formation. 61
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Treatment of tracheopharyngeal and tracheo-oesophageal fistulas following laryngectomy and fistula classification based on individual silicone casts. 61
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One-year follow-up of mud-bath therapy in patients with bilateral knee osteoarthritis: a randomized, single-blind controlled trial. 61
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Variations for Turnpenny-Fry Syndrome

ClinVar genetic disease variations for Turnpenny-Fry Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PCGF2 NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu) SNV Likely pathogenic 619193 rs1567941252 GRCh37: 17:36895854-36895854
GRCh38: 17:38739601-38739601
2 PCGF2 NM_007144.3(PCGF2):c.193C>T (p.Pro65Ser) SNV Likely pathogenic 624617 rs1567941256 GRCh37: 17:36895855-36895855
GRCh38: 17:38739602-38739602

UniProtKB/Swiss-Prot genetic disease variations for Turnpenny-Fry Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 PCGF2 p.Pro65Leu VAR_082085
2 PCGF2 p.Pro65Ser VAR_082086

Expression for Turnpenny-Fry Syndrome

Search GEO for disease gene expression data for Turnpenny-Fry Syndrome.

Pathways for Turnpenny-Fry Syndrome

GO Terms for Turnpenny-Fry Syndrome

Sources for Turnpenny-Fry 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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