Chops Syndrome (CHOPS)

Categories: Bone diseases, Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Chops Syndrome

MalaCards integrated aliases for Chops Syndrome:

Name: Chops Syndrome 57 20 43 58 72 36 29 6 39
Cognitive Impairment, Coarse Facies, Heart Defects, Obesity, Pulmonary Involvement, Short Stature, and Skeletal Dysplasia 57 43
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome 58 17
Chops 57 72


Orphanet epidemiological data:

cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;


57 (Updated 20-May-2021)
autosomal dominant

onset at birth
three unrelated patients have been reported (last curated may 2015)


chops syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Orphanet: 58  
Rare neurological diseases
Rare cardiac malformations
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis

Summaries for Chops Syndrome

MedlinePlus Genetics : 43 CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). The name "CHOPS" is an abbreviation for a list of features of the disorder including cognitive impairment, coarse facial features, heart defects, obesity, lung (pulmonary) involvement, short stature, and skeletal abnormalities.Children with CHOPS syndrome have intellectual disability and delayed development of skills such as sitting and walking. Characteristic facial features include a round face; thick hair; thick eyebrows that grow together in the middle (synophrys); wide-set, bulging eyes with long eyelashes; a short nose; and down-turned corners of the mouth.Most affected individuals are born with a heart defect called patent ductus arteriosus (PDA). The ductus arteriosus is a connection between two major arteries, the aorta and the pulmonary artery. This connection is open during fetal development and normally closes shortly after birth. However, the ductus arteriosus remains open, or patent, in babies with PDA. If untreated, this heart defect causes infants to breathe rapidly, feed poorly, and gain weight slowly; in severe cases, it can lead to heart failure. Multiple heart abnormalities have sometimes been found in children with CHOPS syndrome. In addition to PDA, affected individuals may have ventricular septal defect, which is a defect in the muscular wall (septum) that separates the right and left sides of the heart's lower chamber.People with CHOPS syndrome have abnormalities of the throat and airways that cause momentary cessation of breathing while asleep (obstructive sleep apnea). These abnormalities can also cause affected individuals to breathe food or fluids into the lungs accidentally, which can lead to a potentially life-threatening bacterial lung infection (aspiration pneumonia) and chronic lung disease. Affected individuals are shorter than more than 97 percent of their peers and are overweight for their height. They also have skeletal differences including unusually short fingers and toes (brachydactyly) and abnormally-shaped spinal bones (vertebrae).Other features that can occur in CHOPS syndrome include a small head size (microcephaly); hearing loss; clouding of the lens of the eye (cataract); a single, horseshoe-shaped kidney; and, in affected males, undescended testes (cryptorchidism).

MalaCards based summary : Chops Syndrome, also known as cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia, is related to hepatitis e and cornelia de lange syndrome 1. An important gene associated with Chops Syndrome is AFF4 (AF4/FMR2 Family Member 4). The drugs Methotrexate and Cytarabine have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and eye, and related phenotypes are intellectual disability and global developmental delay

GARD : 20 CHOPS syndrome is rare condition that affects many different parts of the body. "CHOPS" is an acronym for the primary signs and symptoms associated with the condition, including cognitive impairment, coarse facial features, heart defects, obesity, pulmonary (lung) problems, short stature, and skeletal abnormalities. CHOPS syndrome is caused by changes ( mutations ) in the AFF4 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.

KEGG : 36 CHOPS syndrome is a congenital disorder involving multiple abnormalities. The symptoms include cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia. The gain-of-function mutations in the AFF4 gene, encoding a critical component of the super elongation complex (SEC), cause CHOPS syndrome. While CHOPS syndrome and Cornelia de Lange syndrome are clinically recognizable distinct entities there is some phenotypic overlap between these two diagnoses.

UniProtKB/Swiss-Prot : 72 CHOPS syndrome: A syndrome characterized by cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia.

More information from OMIM: 616368

Related Diseases for Chops Syndrome

Diseases related to Chops Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hepatitis e 10.1
2 cornelia de lange syndrome 1 10.1
3 cornelia de lange syndrome 10.1
4 posttransplant acute limbic encephalitis 10.0
5 moyamoya disease 1 10.0
6 bone mineral density quantitative trait locus 3 10.0
7 alacrima, achalasia, and mental retardation syndrome 10.0
8 familial isolated trichomegaly 10.0
9 dystonia 9.9
10 benign idiopathic neonatal seizures 9.9

Graphical network of the top 20 diseases related to Chops Syndrome:

Diseases related to Chops Syndrome

Symptoms & Phenotypes for Chops Syndrome

Human phenotypes related to Chops Syndrome:

58 31 (show top 50) (show all 86)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
6 highly arched eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002553
7 synophrys 58 31 hallmark (90%) Very frequent (99-80%) HP:0000664
8 long eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000527
9 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
10 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
11 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
12 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
13 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
14 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
15 round face 58 31 frequent (33%) Frequent (79-30%) HP:0000311
16 thick hair 58 31 frequent (33%) Frequent (79-30%) HP:0100874
17 aspiration pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0011951
18 gastrostomy tube feeding in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0011471
19 chronic lung disease 58 31 frequent (33%) Frequent (79-30%) HP:0006528
20 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
21 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
22 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
23 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
24 macroglossia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000158
25 hearing impairment 58 31 occasional (7.5%) Frequent (79-30%) HP:0000365
26 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
27 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
28 thick eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0000574
29 full cheeks 58 31 occasional (7.5%) Occasional (29-5%) HP:0000293
30 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
31 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
32 hypoplastic toenails 58 31 occasional (7.5%) Occasional (29-5%) HP:0001800
33 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
34 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
35 abnormal fingernail morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001231
36 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
37 downturned corners of mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0002714
38 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
39 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
40 laryngomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001601
41 thin upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000219
42 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
43 amblyopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000646
44 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
45 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
46 asthma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002099
47 glossoptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000162
48 gynecomastia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000771
49 small hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0200055
50 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development

Head And Neck Eyes:
long eyelashes
thick eyebrows
optic atrophy (1 patient)
Growth Height:
short stature

Genitourinary Internal Genitalia Male:

Skeletal Hands:

Genitourinary Ureters:
vesicoureteral reflux

Skin Nails Hair Hair:
thick hair

Respiratory Lung:
aspiration pneumonia
chronic lung disease

Head And Neck Mouth:
downturned corners of the mouth

Head And Neck Ears:
hearing loss (1 patient)

Head And Neck Face:
coarse facial features
round face

Head And Neck Nose:
short nose

Abdomen Gastrointestinal:
gastroesophageal reflux

Growth Weight:

Cardiovascular Vascular:
patent ductus arteriosus

Respiratory Larynx:

Respiratory Airways:
tracheal stenosis

Cardiovascular Heart:
septal defects

Skeletal Spine:
vertebral abnormalities

Genitourinary Kidneys:
horseshoe kidney (1 patient)

Clinical features from OMIM®:

616368 (Updated 20-May-2021)

Drugs & Therapeutics for Chops Syndrome

Drugs for Chops Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 227)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
Cytarabine Approved, Investigational Phase 4 147-94-4 6253
Thalidomide Approved, Investigational, Withdrawn Phase 4 50-35-1 5426
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
Obinutuzumab Approved, Investigational Phase 4 949142-50-1
Pirarubicin Investigational Phase 4 72496-41-4
Daclizumab Investigational, Withdrawn Phase 4 152923-56-3
11 Protein Kinase Inhibitors Phase 4
Apatinib Phase 4 811803-05-1
13 Angiotensin II Type 1 Receptor Blockers Phase 4
14 Angiotensin Receptor Antagonists Phase 4
15 Giapreza Phase 4
16 Angiotensinogen Phase 4
17 Antihypertensive Agents Phase 4
18 Hydrocortisone 17-butyrate 21-propionate Phase 4
19 Hydrocortisone hemisuccinate Phase 4
20 Bendamustine Hydrochloride Phase 4
Fludarabine Approved Phase 3 21679-14-1, 75607-67-9 30751
Acetaminophen Approved Phase 3 103-90-2 1983
Mesna Approved, Investigational Phase 3 3375-50-6 598
Ifosfamide Approved Phase 3 3778-73-2 3690
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
Epirubicin Approved Phase 3 56420-45-2 41867
Darbepoetin alfa Approved, Investigational Phase 3 209810-58-2, 11096-26-7
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
Gemcitabine Approved Phase 3 95058-81-4 60750
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166 2942
Carmustine Approved, Investigational Phase 3 154-93-8 2578
Vinblastine Approved Phase 3 865-21-4 13342 241903
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
leucovorin Approved Phase 3 58-05-9 6006
Pixantrone Approved, Investigational Phase 3 144510-96-3
Idarubicin Approved Phase 3 58957-92-9 42890
Histamine Approved, Investigational Phase 3 51-45-6, 75614-87-8 774
Famotidine Approved Phase 3 76824-35-6 3325
Melphalan Approved Phase 3 148-82-3 4053 460612
Romidepsin Approved, Investigational Phase 3 128517-07-7 5352062
Iodine Approved, Investigational Phase 3 7553-56-2 807
Lenalidomide Approved Phase 3 191732-72-6 216326
Azacitidine Approved, Investigational Phase 3 320-67-2 9444
Decitabine Approved, Investigational Phase 3 2353-33-5 451668
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
Vindesine Approved, Investigational Phase 3 53643-48-4, 59917-39-4 40839
Bleomycin Approved, Investigational Phase 3 11056-06-7 5360373
Bevacizumab Approved, Investigational Phase 3 216974-75-3
Lenograstim Approved, Investigational Phase 3 135968-09-1

Interventional clinical trials:

(show top 50) (show all 362)
# Name Status NCT ID Phase Drugs
1 PEG-rhG-CSF in Patients With Non-Hodgkin Lymphoma Receiving Chemotherapy to Prevent Neutropenia Unknown status NCT02996617 Phase 4 rhG-CSF regimen;Pegylated rhG-CSF regimen
2 A Randomized, Controlled Mutiple-center Clinical Research on the Treatment With Yangzhengxiaoji Capsule Combination Chemotherapy for III/IV Diffuse Large B Cell Lymphoma Unknown status NCT01949818 Phase 4 Yangzhengxiaoji capsule combined with CHOP regimen;CHOP regimen
3 Clinical Application of Polyethylene Glycol Liposome Doxorubicin (PLD) in Primary Lymphoma Unknown status NCT02526823 Phase 4 R-CHOP/CHOPE or ABVD chemotherapy regimen;R-CDOP/CDOPE or DBVD chemotherapy regimen
4 A Randomized Controlled Clinical Trial of Apatinib Combined With CHOP Regimen in the Treatment of Newly Diagnosed Peripheral T-cell Lymphoma Unknown status NCT03631862 Phase 4 Apatinib;CHOP Regimen
5 An Open-label,Multicenter Randomised Study of CTOP/ITE/MTX Compared With CHOP as the First-line Therapy for the New Diagnosed Young Patients With T Cell Non-hodgkin Lymphoma Unknown status NCT01746992 Phase 4 Cyclophosphamide 750mg/m2;Vincristine 1.4mg/m2;Doxorubicin 50mg/m2;prednisone 60mg/m2;ifosfamide 2000mg/m2;pirarubicin 50mg/m2;pirarubicin 25mg/m2;Etoposide phosphate 100mg/m2;methotrexate 1500mg/m2
6 HTLV-I Associated Adult T-cell Leukaemia/Lymphoma (ATLL) Pilot Study of Combination Therapy With CHOP-Zenapax (CHOP-daclizumab) Completed NCT01418430 Phase 4 CHOP-daclizumab
7 A Randomized Controlled Multi-center Clinical Trial on Treatment of Peripheral T-cell Lymphoma With DGPT Regiment (Gemcitabine,Cisplatin,Prednisone ,Thalidomide ) Completed NCT01664975 Phase 4 GDPT regimen;CHOP regimen
8 The Multi-centers Trial for Patients With Non-Hodgkin's Lymphoma to Assess the Protective Effect of Valsartan on Chronic Cardiotoxicity Induced by CHOP Completed NCT00162955 Phase 4 Valsartan
9 LINFOTARGAM: First-line Treatment With Dose-dense Chemotherapy Plus Rituximab (R-CHOP/14) and Highly Active Antiretroviral Therapy (HAART) in Patients With Diffuse Large B Cell Lymphoma (DLBCL) and Infection With the Human Immunodeficiency Virus (HIV) Completed NCT00466258 Phase 4 R-CHOP;Highly active antiretroviral therapy;Central nervous system (CNS) prophylaxis;Prophylaxis of opportunistic infections and support treatment
10 Lenalidomide, Rituximab and Combination Chemotherapy Versus Rituximab and Combination Chemotherapy in Treating Patients With Newly Diagnosed Highly Aggressive Non-Hodgkin B-cell Lymphoma Recruiting NCT04152577 Phase 4 R2-combination chemotherapy;R-combination chemotherapy
11 Four Cycles of R-CHOP Followed by Four Cycles of Rituximab Versus Six Cycles of R-CHOP Followed by Two Cycles of Rituximab in the Treatment of de Novo, Low-risk, Non-bulky Diffuse Large B-cell Lymphoma. Recruiting NCT02752815 Phase 4 Rituximab;Cyclophosphamide;Epirubicin;Vincristine;Prednisone
12 A Multicentric, Open-Label, Single Arm Study of Obinutuzumab Short Duration Infusion (SDI) in Patients With Previously Untreated Advanced Follicular Lymphoma Active, not recruiting NCT03817853 Phase 4 Obinutuzumab;Bendamustine;Cyclophosphamide;Doxorubicin;Prednisone/Prednisolone/Methylprednisolone;Vincristine
13 R-CHOP Therapy Compared With R-CHOP Plus Biocell Natural Killer Mixture in Patients With DLBCL (Diffuse Large B Cell Lymphoma);A Randomized, Open-label,Multi-center Trail Unknown status NCT00846157 Phase 3
14 Comparative,Randomized,Double Blind Study to Evaluate Biologic Effect and Safety of PBO-326 (Rituximab), Associated to CHOP-14 Compared With Mabthera (Rituximab) Associated to CHOP-14 in B Cells CD20+ Diffuse Non-Hodgkin Lymphoma Patients Unknown status NCT01277172 Phase 2, Phase 3
15 A Phase Ⅲ, Multi-center, Randomized, Controlled Study to Compare the Efficiency and Safety of SCT400(Recombinant Chimeric Anti-CD20 Monoclonal Antibody, Experimental Drug) Plus CHOP Versus Rituximab Plus CHOP in Untreated CD20-positive DLBCL Patients Unknown status NCT02772822 Phase 3 SCT400 plus CHOP;Rituximab plus CHOP
16 Efficacy of 6x R-CHOP Followed by Myeloablative Radiochemotherapy and Autologous Stem Cell Transplantation vs. 3 x (R-CHOP/R-DHAP) Followed by a High Dose ARA-C Containing Myeloablative Regimen and Autologous Stem Cell Transplantation Unknown status NCT00209222 Phase 3 Rituximab;Cyclophosphamide;Doxorubicin;Vincristine;Prednisone;Cisplatinum;Ara-C;Dexamethasone;BCNU;Melphalan;Etoposide;G-CSF
17 An Randomized, Open-label, Phase III Study Comparing Thalidomide Combined With R-CHOP and R-CHOP in Newly Diagnosed Double-expressor Diffuse Large B-Cell Lymphoma Patients Unknown status NCT03318835 Phase 3 Thalidomide combined with R-CHOP;R-CHOP
18 A Phase III, Open-Label, Prospective, Two-Armed, Multicenter, Randomized, Group Sequential Study to Evaluate the Efficacy and Safety of Subsequent Treatment With the Zevalin (Ibritumomab Tiuxetan) Study Regimen Versus Observation in Patients With Diffuse Large B-Cell Lymphoma Who Are in Complete Remission After First-Line CHOP-Rituximab (CHOP-R) Therapy Unknown status NCT00322218 Phase 3 Zevalin Therapeutic Regimen
19 Randomised Study Comparing 6 And 8 Cycles Of Chemotherapy With CHOP ( Cyclophosphamide, Doxorubicin, Vincristine And Prednisone) At 14-Day Intervals (CHOP-14), Both With Or Without The Monoclonal Anti-CD20 Antibody Rituximab In Patients Aged 61 To 80 Years With Aggressive Non-Hodgkin's Lymphoma Unknown status NCT00052936 Phase 3 CHOP regimen;cyclophosphamide;doxorubicin hydrochloride;prednisone;vincristine sulfate
20 Phase III Study of CHOP-14 Plus or Minus Alemtuzumab in Peripheral T-cell Lymphoma of the Elderly Unknown status NCT00725231 Phase 3 chemotherapy
21 Dried Plums (Prunes) vs. Polyethylene Glycol 4000 for Treatment of Functional Constipation in Children - Randomised Controlled Trial Unknown status NCT03639142 Phase 3 Polyethylene Glycol 4000
22 A Prospective , Multicenter, RandomizedPhase III Study of Improving the Efficacy of Treatment in High Risk T Cell Lymphoma Patients Unknown status NCT01788137 Phase 3 chemotherapy (CHOP);chemotherapy(c-ATT)
23 Phase III Multicentric IIL Study, Three Randomized Arms (R-CVP vs R-CHOP vs R-FM),for Treatment of Patients With Stage II-IV Follicular Lymphoma Unknown status NCT00774826 Phase 3 R-CVP;R-CHOP;R-FM
24 Rituximab, Cyclophosphamide, Vincristine, and Prednisone in Combination With Doxorubicin (R-CHOP) Versus in Combination With Pegylated-liposomal Doxorubicin (R-CDOP) as First-line Treatment for Elderly Patients With Diffuse Large-B-cell Lymphoma: a Randomised, Multicentre, Non-inferiority Study Unknown status NCT02428751 Phase 3 Pegylated liposomal doxorubicin;Doxorubicin;Rituximab;Cyclophophamide;Vincristine;Prednisone
25 Efficacy of Maintenance Therapy With Rituximab After Induction Chemotherapy (R-CHOP vs. R-FC) for Elderly Patients With Mantle Cell Lymphoma Not Suitable for Autologous Stem Cell Transplantation Unknown status NCT00209209 Phase 3 Rituximab;Cyclophosphamide;Doxorubicin;Vincristine;Prednisone;Fludarabine;Interferon-alpha;pegylated formula Interferon-alpha 2b
26 A Randomized Phase III Study Of Chimeric Anti-CD20 Monoclonal Antibody (Rituximab) With 2-Weekly CHOP Chemotherapy In Elderly Patients With Intermediate Or High-Risk Non-Hodgkin's Lymphoma Unknown status NCT00028717 Phase 3 cyclophosphamide;doxorubicin hydrochloride;prednisone;vincristine sulfate
27 A Multi-center, Prospective, Randomized Phase III Study of the Safety and Efficacy of R-CEOP-90/R-CEOP-70 Versus R-CHOP-50 in the Treatment of Diffuse Large B-cell Lymphoma and Follicular Lymphoma Grade 3B Unknown status NCT01852435 Phase 3 R-CEOP-70;R-CEOP-90;R-CHOP-50
29 Rituximab + Standard CHOP (R・S-CHOP) vs Rituximab+ Bi-weekly CHOP (R・Bi-CHOP) RCT(Phase II/III) for Stage III/IV Low-grade B-cell Lymphoma (LowBNHL-RS/BiCHOP-P2/3) (JCOG0203) Completed NCT00147121 Phase 2, Phase 3 Rituximab + Standard CHOP;Rituximab + Bi-weekly CHOP
30 Intensified CHOP Plus Rituximab (R-CHOP 14) Versus CHOP Plus Rituximab (R-CHOP 21) and Frontline/Prophylactic Darbepoetin Alfa Treatment Versus Usual Symptomatic Treatment of Anemia in Patients Aged 60 to 80 Years With Diffuse Large B-cell Lymphoma. Completed NCT00144755 Phase 3 Darbepoetin alfa
31 An Open-labeled, Multi-center, Randomized, Prospective Phase III Study Comparing CMAB304 in Combination With CHOP to CHOP Alone With CMAB304 Maintenance in Patients With DLBCL Completed NCT01459887 Phase 3 CHOP combined with CMAB304;CHOP, CMAB304
32 Positron Emission Tomography Guided Therapy of Aggressive Non-Hodgkin's Lymphomas Completed NCT00554164 Phase 3 (R-)CHOP protocol;B-ALL protocol;(R-)CHOP protocol;(R-)CHOP protocol
33 A Multicentric Phase III Study in Patients With CLL B and C < 60 Years Not Treated: 6 Montly CHOP + 6 CHOP Every 3 Months Versus 3 Montly CHOP + Intensification and Autograft Completed NCT00535912 Phase 3
34 A Randomized, Double-blind, Phase III Study Comparing Biosimilar Rituximab (RTXM83) Plus CHOP Chemotherapy Versus a Reference Rituximab Plus CHOP (R-CHOP) in Patients With Diffuse Large B-cell Lymphoma (DLBCL) Given as First Line Completed NCT02268045 Phase 3
35 A Randomized, Phase IIIB, Open-label, Two-arm, Multicenter, comparatiVe Study on Efficacy and Safety of Lipegfilgrastim (Lonquex, TEVA) in Comparison to Pegfilgrastim (Neulasta®, Amgen) in Elderly Patients With Aggressive B Cell Non-HOdgkin Lymphomas at hIgh Risk for R-CHOP-21-inDuced Neutropenia - AVOID Neutropenia Completed NCT02044276 Phase 3 lipegfilgrastim;pegfilgrastim
36 A Randomized Phase III Study to Evaluate the Efficacy of Chemoimmunotherapy With the Monoclonal Antibody Campath-1H (Alemtuzumab) Given in Combination With 2-weekly CHOP Versus 2-weekly CHOP Alone and Consolidated by Autologous Stem Cell Transplant, in Young Patients With Previously Untreated Systemic Peripheral T-cell Lymphomas Completed NCT00646854 Phase 3 CHOP14 chemotherapy (cyclophosphamide, hydroxydaunorubicin, vincristin, prednison) plus G-CSF, combined with alemtuzumab;CHOP14 chemotherapy (see specification under Arm B) plus G-CSF
37 A Two-Stage Phase III, International, Multi-Center, Randomized, Controlled, Open-Label Study to Investigate the Pharmacokinetics, Efficacy and Safety of Rituximab SC in Combination With CHOP or CVP Versus Rituximab IV in Combination With CHOP or CVP in Patients With Previously Untreated Follicular Lymphoma Followed by Maintenance Treatment With Either Rituximab SC or Rituximab IV Completed NCT01200758 Phase 3 Rituximab SC;Rituximab IV;Cyclophosphamide;Doxorubicin;Vincristine;Prednisone/Prednisolone
38 A Multicenter, Randomized, Double-blind, Controlled, Phase III Study to Evaluate the Efficacy and Safety of IBI301 (Recombinant Chimeric Anti-CD20 Monoclonal Antibody ) in Combination With CHOP Regimen Versus Rituximab in Combination With CHOP Regimen in Treatment-naïve Patients With Diffuse Large B-cell Lymphoma (DLBCL) Completed NCT02867566 Phase 3 IBI301 plus CHOP;Rituximab plus CHOP
39 A Comparative, Randomized, Parallel-group, Multi-center, Phase IIIB Study to Investigate the Efficacy of Subcutaneous (SC) Rituximab Versus Intravenous (IV) Rituximab Both in Combination With CHOP (R-CHOP) in Previously Untreated Patients With CD20-positive Diffuse Large B-cell Lymphoma (DLBCL) Completed NCT01649856 Phase 3 CHOP;rituximab [MabThera/Rituxan];rituximab [MabThera/Rituxan]
40 A Phase III Randomized Trial of CHOP Chemotherapy Plus Rituxan (IDEC-C2B8) Versus CHOP Chemotherapy Alone for Newly Diagnosed, Previously Untreated, Aggressive Non-Hodgkin's Lymphoma Completed NCT00004112 Phase 3 CHOP regimen;cyclophosphamide;doxorubicin hydrochloride;prednisone;vincristine sulfate
41 Phase III Trial of CHOP Versus CHOP and Chimeric Anti-CD20 Monoclonal Antibody (IDEC-C2B8) in Older Patients With Diffuse Mixed, Diffuse Large Cell and Immunoblastic Large Cell Histology Non-Hodgkin's Lymphoma Completed NCT00003150 Phase 3 CHOP regimen;cyclophosphamide;doxorubicin hydrochloride;prednisone;vincristine sulfate
42 A Phase III Multicenter, Open-label Study of Rituximab Alternative Dosing Rate in Patients With Previously Untreated Diffuse Large B-cell or Follicular Non-Hodgkin's Lymphoma Completed NCT00719472 Phase 3 Rituximab;CHOP (cyclophosphamide, hydroxydaunorubicin [doxorubicin], Oncovin [vincristine], prednisone);CVP (cyclophosphamide, vincristine, prednisone);Analgesic/antipyretic and antihistamine drugs
43 Prospective Randomised Multicenter Study for Therapy Optimization (First Line) of Advanced Progredient, Low Malignant Non-Hodgkin Lymphomas and Mantle Cell Lymphomas Completed NCT00991211 Phase 3 Bendamustine;Standard chemotherapy CHOP + Ritiximab
44 Multicentric Study About Treatment of High Grade Peripheral T Cell Lymphoma in Adults. LTP Study Comparison Between VIP ABVD Versus CHOP Completed NCT00970385 Phase 3 CHOP21;VIP/ABVD
45 Multicentric Randomized Phase III Study Comparing High Doses of Chemotherapy With Rituximab Followed by Auto-transplant HPC Versus CHOP Plus Rituximab as First Line Therapy in High Risk Patients With DLBCL Non-Hodgkin's Lymphomas Completed NCT00355199 Phase 3 Rituximab-HDS;Rituximab-CHOP
46 Clinical Study to Compare the Efficacy and Safety of Rituximab Biosimilar HLX01 and Rituximab in Combination With CHOP, in Previously Untreated Subjects With CD20+ DLBCL Completed NCT02787239 Phase 3 HLX01;Rituximab;CHOP
47 An Open-Label, Randomized, Parallel-Group Study of Bendamustine Hydrochloride and Rituximab (BR) Compared With Rituximab, Cyclophosphamide, Vincristine, and Prednisone (R-CVP) or Rituximab, Cyclophosphamide, Doxorubicin, Vincristine, and Prednisone (R-CHOP) in the First-Line Treatment of Patients With Advanced Indolent Non-Hodgkin's Lymphoma (NHL) or Mantle Cell Lymphoma (MCL) Completed NCT00877006 Phase 3 bendamustine;rituximab;vincristine;prednisone;cyclophosphamide;doxorubicin
48 First-line R-CVP vs R-CHOP Induction Immunochemotherapy for Indolent Lymphoma and R Maintenance.A Multicentre, Phase III Randomized Study by the PLRG. Completed NCT00801281 Phase 3 Rituximab;Cyclophosphamide;Doxorubicin;Vincristine;Prednisone 1;Prednisone 2
49 A Randomized, Open-Label, Multicenter Phase 3 Study of the Combination of Rituximab, Cyclophosphamide, Doxorubicin, VELCADE, and Prednisone (VcR-CAP) or Rituximab, Cyclophosphamide, Doxorubicin, Vincristine, and Prednisone (R-CHOP) in Patients With Newly Diagnosed Mantle Cell Lymphoma Who Are Not Eligible for a Bone Marrow Transplant Completed NCT00722137 Phase 3 Rituximab 375 mg/m^2;Cyclophosphamide 750 mg/m^2;Doxorubicin 50 mg/m^2;VELCADE 1.3 mg/m^2;Prednisone 100 mg/m^2;Vincristine 1.4 mg/m^2
50 A Randomized Phase III Study Comparing CHOP Versus CEOP-induced Cardiotoxicity in Patients With Aggressive B-cell Lymphoma Completed NCT00854568 Phase 3 CEOP regimen;CHOP regimen

Search NIH Clinical Center for Chops Syndrome

Genetic Tests for Chops Syndrome

Genetic tests related to Chops Syndrome:

# Genetic test Affiliating Genes
1 Chops Syndrome 29 AFF4

Anatomical Context for Chops Syndrome

MalaCards organs/tissues related to Chops Syndrome:

Heart, Lung, Eye, Testes, Kidney, Bone, Endothelial

Publications for Chops Syndrome

Articles related to Chops Syndrome:

(show top 50) (show all 419)
# Title Authors PMID Year
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. 57 6 61
25730767 2015
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. 61
33961779 2021
Hemin from porcine blood effectively stabilized color appearance and odor of prepared pork chops upon repeated freeze-thaw cycles. 61
33453553 2021
Vascular infusion with concurrent vascular rinsing on color, tenderness, and lipid oxidation of hog meat. 61
33373849 2021
A case of CHOPS syndrome accompanied with moyamoya disease and systemic vasculopathy. 61
33248856 2021
Pork Loin Chop Quality and Muscle Fiber Characteristics as Affected by the Direction of Cut. 61
33375235 2020
Application of Neutral Electrolyzed Water on pork chops and its impact on meat quality. 61
33199806 2020
Influence of freeze-thawed cycles on pork quality. 61
33171034 2020
Characterizing the amount and variability of intramuscular fat deposition throughout pork loins using barrows and gilts from two sire lines. 61
32845331 2020
Meat quality attributes and oxidation stability of loin chops from finishing gilts and cull sows. 61
32624615 2020
Effects of repeated retrieval on keyword mediator use: shifting to direct retrieval predicts better learning outcomes. 61
32723148 2020
Evaluation of the changes in composition of pork chops during cooking. 61
32904975 2020
Replacing cottonseed meal and sorghum grain with corn dried distillers' grains with solubles in lamb feedlot diets: carcass, trained sensory panel, and volatile aroma compounds traits. 61
32504491 2020
Effects of Chitosan Coating with Green Tea Aqueous Extract on Lipid Oxidation and Microbial Growth in Pork Chops during Chilled Storage. 61
32532034 2020
Northeastern U.S. Salmonella Strains from Retail Meat Are More Prevalent and More Resistant to Antimicrobials. 61
31913707 2020
Characterizing membrane phospholipid hydrolysis of pork loins throughout three aging periods. 61
31986363 2020
Effect of porcine reproductive and respiratory syndrome virus infection and soy isoflavone supplementation on carcass cutability and meat quality of pigs. 61
32166330 2020
Occupational Exposure and Carriage of Antimicrobial Resistance Genes (tetW, ermB) in Pig Slaughterhouse Workers. 61
31883001 2020
Why do we eat cereal but not lamb chops at breakfast? Investigating Americans' beliefs about breakfast foods. 61
31526837 2020
The effects of the LIPEX finishing diet regimen on pork quality, fatty acid profile, palatability, and color stability. 61
32704994 2020
An outbreak of monophasic Salmonella Typhimurium associated with raw pork sausage and other pork products, Denmark 2018-19. 61
31813408 2019
Effect of a dual enteric and respiratory pathogen challenge on swine growth, efficiency, carcass composition, and pork quality1. 61
31634906 2019
The expanding phenotypes of cohesinopathies: one ring to rule them all! 61
31516082 2019
Food Service Pork Chops from Three U.S. Regions Harbor Similar Levels of Antimicrobial Resistance Regardless of Antibiotic Use Claims. 61
31532250 2019
Potassium carbonate improves fresh pork quality characteristics. 61
31226650 2019
Implementation of a model of care for hospitalised older persons with cognitive impairment (the Confused Hospitalised Older Persons program) in six New South Wales hospitals. 61
31496063 2019
Tannin-rich sainfoin pellet supplementation reduces fat volatile indoles content and delays digestive parasitism in lambs grazing alfalfa. 61
30614428 2019
Meat quality of pork loins from Hereford×Berkshire female and intact male pigs reared in an alternative production system. 61
30744332 2019
Clinical and molecular spectrum of CHOPS syndrome. 61
31058441 2019
Effects of feeding juniper as a roughage on feedlot performance, carcass measurements, meat sensory attributes, and volatile aroma compounds of yearling Rambouillet wethers1,2. 61
31100114 2019
TECHNICAL NOTE: A method for detection of differences in cook loss and tenderness of aged pork chops cooked to differing degrees of doneness using sous-vide. 61
31190071 2019
A Chemical Strategy for Protease Substrate Profiling. 61
31006619 2019
Disinfectant and Antimicrobial Susceptibility Profiles of Campylobacter coli Isolated in 1998 to 1999 and 2015 from Swine and Commercial Pork Chops. 61
31116418 2019
Final internal cooking temperature of pork chops influenced consumer eating experience more than visual color and marbling or ultimate pH. 61
30968136 2019
Monitoring of pork liver and meat products on the Dutch market for the presence of HEV RNA. 61
30849707 2019
Special-Fed Veal: Separable components, proximate composition, and nutrient analysis of selected raw and cooked, wholesale and retail cuts. 61
30292700 2019
Different methods of chopping in cataract surgery. 61
30334824 2019
Whole-Genome Sequence Analysis of CTX-M Containing Escherichia coli Isolates from Retail Meats and Cattle in the United States. 61
30148698 2018
The effects of ultimate pH and color on sensory traits of pork loin chops cooked to a medium-rare degree of doneness. 61
29982650 2018
Evaluation of the antimicrobial efficacy of neutral electrolyzed water on pork products and the formation of viable but nonculturable (VBNC) pathogens. 61
29526207 2018
Characterization of methane emissions from five cold heavy oil production with sands (CHOPS) facilities. 61
29513645 2018
Display stability of fresh and thawed lamb supplemented with vitamin E or sprayed with an antioxidant borage seed extract. 61
29143965 2018
Influence of feeding thermally peroxidized soybean oil to finishing pigs on carcass characteristics, loin quality, and shelf life of loin chops. 61
29726946 2018
Consumer visual appraisal and shelf life of leg chops from suckling kids raised with natural milk or milk replacer. 61
29076213 2018
Fatty acid composition of intramuscular fat and odour-active compounds of lamb commercialized in northern Spain. 61
29459300 2018
Effect of packaging type during postmortem aging and degree of doneness on pork chop sensory traits of loins selected to vary in color and marbling. 61
29509888 2018
Impact of Cooking Procedures and Storage Practices at Home on Consumer Exposure to Listeria Monocytogenes and Salmonella Due to the Consumption of Pork Meat. 61
28846810 2018
Reduction of androstenone perception in pan-fried boar meat by different masking strategies. 61
28981163 2018
Substituting ground woody plants for cottonseed hulls in lamb feedlot diets: carcass characteristics, adipose tissue fatty acid composition, and sensory panel traits. 61
29385610 2018
Effect of dietary vitamin E on physicochemical and fatty acid stability of fresh and thawed lamb. 61
28873514 2018

Variations for Chops Syndrome

ClinVar genetic disease variations for Chops Syndrome:

6 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AFF4 NM_014423.4(AFF4):c.760A>G (p.Thr254Ala) SNV Pathogenic 190329 rs786205233 GRCh37: 5:132269997-132269997
GRCh38: 5:132934305-132934305
2 AFF4 NM_014423.4(AFF4):c.772C>T (p.Arg258Trp) SNV Pathogenic/Likely pathogenic 190331 rs786205680 GRCh37: 5:132269985-132269985
GRCh38: 5:132934293-132934293
3 AFF4 NM_014423.4(AFF4):c.761C>G (p.Thr254Ser) SNV Likely pathogenic 190330 rs786205679 GRCh37: 5:132269996-132269996
GRCh38: 5:132934304-132934304
4 AFF4 NM_014423.4(AFF4):c.473A>G (p.Asn158Ser) SNV Uncertain significance 847269 GRCh37: 5:132270284-132270284
GRCh38: 5:132934592-132934592
5 AFF4 NM_014423.4(AFF4):c.422G>A (p.Ser141Asn) SNV Uncertain significance 1049035 GRCh37: 5:132270335-132270335
GRCh38: 5:132934643-132934643
6 AFF4 NM_014423.4(AFF4):c.455A>G (p.Asp152Gly) SNV Uncertain significance 1054576 GRCh37: 5:132270302-132270302
GRCh38: 5:132934610-132934610
7 AFF4 NM_014423.4(AFF4):c.2162A>G (p.Asn721Ser) SNV Uncertain significance 1027865 GRCh37: 5:132232160-132232160
GRCh38: 5:132896468-132896468
8 AFF4 NM_014423.4(AFF4):c.2243A>T (p.His748Leu) SNV Uncertain significance 1027866 GRCh37: 5:132232079-132232079
GRCh38: 5:132896387-132896387
9 AFF4 NM_014423.4(AFF4):c.2033C>T (p.Pro678Leu) SNV Uncertain significance 1033695 GRCh37: 5:132232289-132232289
GRCh38: 5:132896597-132896597
10 AFF4 NM_014423.4(AFF4):c.3099+2T>C SNV Uncertain significance 542217 rs1554073525 GRCh37: 5:132222000-132222000
GRCh38: 5:132886308-132886308
11 AFF4 NM_014423.4(AFF4):c.1268_1270dup (p.Ser424_Arg425insTyr) Duplication Uncertain significance 523059 rs764600828 GRCh37: 5:132234040-132234041
GRCh38: 5:132898348-132898349
12 AFF4 NM_014423.4(AFF4):c.2189C>G (p.Pro730Arg) SNV Uncertain significance 802155 rs1581277937 GRCh37: 5:132232133-132232133
GRCh38: 5:132896441-132896441
13 AFF4 NM_014423.4(AFF4):c.2108C>T (p.Ser703Leu) SNV Likely benign 802156 rs1581278077 GRCh37: 5:132232214-132232214
GRCh38: 5:132896522-132896522
14 AFF4 NM_014423.4(AFF4):c.2470C>T (p.Pro824Ser) SNV Likely benign 772608 rs200646130 GRCh37: 5:132228023-132228023
GRCh38: 5:132892331-132892331
15 AFF4 NM_014423.4(AFF4):c.918T>C (p.Asp306=) SNV Likely benign 720624 rs146532485 GRCh37: 5:132269839-132269839
GRCh38: 5:132934147-132934147
16 AFF4 NM_014423.4(AFF4):c.3261G>A (p.Gln1087=) SNV Likely benign 735255 rs369587813 GRCh37: 5:132219135-132219135
GRCh38: 5:132883443-132883443
17 AFF4 NM_014423.4(AFF4):c.830G>C (p.Ser277Thr) SNV Likely benign 766774 rs141068875 GRCh37: 5:132269927-132269927
GRCh38: 5:132934235-132934235
18 AFF4 NM_014423.4(AFF4):c.3216G>A (p.Gly1072=) SNV Likely benign 707434 rs145016393 GRCh37: 5:132219180-132219180
GRCh38: 5:132883488-132883488
19 AFF4 NM_014423.4(AFF4):c.3450G>A (p.Gln1150=) SNV Likely benign 797723 rs1581264701 GRCh37: 5:132216793-132216793
GRCh38: 5:132881101-132881101
20 AFF4 NM_014423.4(AFF4):c.406A>C (p.Thr136Pro) SNV Benign 707492 rs34527550 GRCh37: 5:132270351-132270351
GRCh38: 5:132934659-132934659
21 AFF4 NM_014423.4(AFF4):c.3000A>G (p.Val1000=) SNV Benign 707544 rs141975451 GRCh37: 5:132223218-132223218
GRCh38: 5:132887526-132887526
22 AFF4 NM_014423.4(AFF4):c.810G>A (p.Leu270=) SNV Benign 707612 rs114858484 GRCh37: 5:132269947-132269947
GRCh38: 5:132934255-132934255
23 AFF4 NM_014423.4(AFF4):c.554A>T (p.Gln185Leu) SNV Benign 707051 rs137880283 GRCh37: 5:132270203-132270203
GRCh38: 5:132934511-132934511
24 AFF4 NM_014423.4(AFF4):c.2892A>G (p.Lys964=) SNV Benign 707057 rs34434281 GRCh37: 5:132223579-132223579
GRCh38: 5:132887887-132887887
25 AFF4 NM_014423.4(AFF4):c.819G>A (p.Glu273=) SNV Benign 766844 rs141383886 GRCh37: 5:132269938-132269938
GRCh38: 5:132934246-132934246
26 AFF4 NM_014423.4(AFF4):c.3319A>G (p.Thr1107Ala) SNV Benign 766939 rs139490054 GRCh37: 5:132219077-132219077
GRCh38: 5:132883385-132883385
27 AFF4 NM_014423.4(AFF4):c.339C>T (p.Pro113=) SNV Benign 772337 rs143884299 GRCh37: 5:132270418-132270418
GRCh38: 5:132934726-132934726
28 AFF4 NM_014423.4(AFF4):c.1968T>C (p.Ser656=) SNV Benign 791092 rs192660791 GRCh37: 5:132232354-132232354
GRCh38: 5:132896662-132896662

UniProtKB/Swiss-Prot genetic disease variations for Chops Syndrome:

# Symbol AA change Variation ID SNP ID
1 AFF4 p.Thr254Ala VAR_073790 rs786205233
2 AFF4 p.Thr254Ser VAR_073791 rs786205679
3 AFF4 p.Arg258Trp VAR_073792 rs786205680

Expression for Chops Syndrome

Search GEO for disease gene expression data for Chops Syndrome.

Pathways for Chops Syndrome

GO Terms for Chops Syndrome

Sources for Chops Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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