CHOPS
MCID: CHP002
MIFTS: 53

Chops Syndrome (CHOPS)

Categories: Bone diseases, Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Chops Syndrome

MalaCards integrated aliases for Chops Syndrome:

Name: Chops Syndrome 57 19 42 58 73 38
Cognitive Impairment - Coarse Facies - Heart Defects - Obesity - Pulmonary Involvement - Short Stature - Skeletal Dysplasia Syndrome 28 5
Cognitive Impairment, Coarse Facies, Heart Defects, Obesity, Pulmonary Involvement, Short Stature, and Skeletal Dysplasia 57 42
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome 58 16
Chops 57 73
Chop 75

Characteristics:


Inheritance:

Chops Syndrome: Autosomal dominant 57
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome: Autosomal dominant 58

Prevelance:

Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome: Antenatal,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset at birth
three unrelated patients have been reported (last curated may 2015)


Classifications:

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


Summaries for Chops Syndrome

MedlinePlus Genetics: 42 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 - skeletal dysplasia syndrome, is related to lymphoma and b-cell lymphoma. An important gene associated with Chops Syndrome is AFF4 (ALF Transcription Elongation Factor 4). The drugs Cyclophosphamide and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and bone, and related phenotypes are intellectual disability and global developmental delay

Orphanet: 58 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, short stature, skeletal abnormalities (such as brachydactyly and vertebral anomalies), obesity, cardiac, respiratory, and genitourinary anomalies, and dysmorphic facial features (including coarse facies, thick eyebrows, synophrys, hypertelorism, short, upturned nose, and long philtrum). Additional reported manifestations are microcephaly, hearing impairment, cataract, and gastroesophageal reflux.

GARD: 19 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 in the AFF4 gene and is inherited in an autosomal dominant manner.

UniProtKB/Swiss-Prot: 73 A syndrome characterized by cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia.

Wikipedia: 75 CHOP is the acronym for a chemotherapy regimen used in the treatment of non-Hodgkin lymphoma. CHOP... more...

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:

(show top 50) (show all 607)
# Related Disease Score Top Affiliating Genes
1 lymphoma 11.1
2 b-cell lymphoma 11.1
3 diffuse large b-cell lymphoma 11.1
4 burkitt lymphoma 11.0
5 lymphoma, hodgkin, classic 11.0
6 lymphoma, non-hodgkin, familial 10.7
7 neutropenia 10.7
8 follicular lymphoma 10.6
9 liposarcoma 10.6
10 peripheral t-cell lymphoma 10.5
11 myxoid liposarcoma 10.5
12 cataract 10.5
13 mantle cell lymphoma 10.5
14 tatton-brown-rahman syndrome 10.5
15 b-cell non-hodgkin lymphoma 10.4
16 rhabdomyosarcoma 2 10.4
17 down syndrome 10.4
18 thrombocytopenia 10.4
19 peripheral nervous system disease 10.3
20 neuropathy 10.3
21 sarcoma 10.3
22 leukemia, chronic lymphocytic 10.3
23 alopecia 10.3
24 colorectal cancer 10.3
25 ischemia 10.3
26 lymphoproliferative syndrome 10.3
27 primary mediastinal b-cell lymphoma 10.3
28 aggressive b-cell non-hodgkin lymphoma 10.2
29 leukemia, acute myeloid 10.2
30 toxic encephalopathy 10.2
31 reticulosarcoma 10.2
32 primary mediastinal large b-cell lymphoma 10.2
33 hepatocellular carcinoma 10.2
34 lung cancer 10.2
35 anaplastic large cell lymphoma 10.2
36 mucositis 10.2
37 colonic benign neoplasm 10.2
38 47 xxx syndrome 10.2
39 non-alcoholic fatty liver disease 10.2
40 angioimmunoblastic t-cell lymphoma 10.2
41 coloboma of optic nerve 10.2
42 glioma susceptibility 1 10.2
43 pneumonia 10.2
44 macroglobulinemia 10.2
45 deficiency anemia 10.1
46 mature t-cell and nk-cell lymphoma 10.1
47 nasal type extranodal nk/t-cell lymphoma 10.1
48 leukemia 10.1
49 congestive heart failure 10.1
50 acute myeloid leukemia with recurrent genetic anomaly 10.1

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 30 (show top 50) (show all 90)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 global developmental delay 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001263
3 anteverted nares 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000463
4 short stature 58 30 Very rare (1%) Very frequent (99-80%)
HP:0004322
5 obesity 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001513
6 highly arched eyebrow 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002553
7 synophrys 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000664
8 long eyelashes 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000527
9 constipation 58 30 Very rare (1%) Frequent (79-30%)
HP:0002019
10 microcephaly 58 30 Very rare (1%) Frequent (79-30%)
HP:0000252
11 gastroesophageal reflux 58 30 Very rare (1%) Frequent (79-30%)
HP:0002020
12 brachydactyly 58 30 Very rare (1%) Frequent (79-30%)
HP:0001156
13 patent ductus arteriosus 58 30 Very rare (1%) Frequent (79-30%)
HP:0001643
14 ventricular septal defect 58 30 Very rare (1%) Frequent (79-30%)
HP:0001629
15 round face 58 30 Very rare (1%) Frequent (79-30%)
HP:0000311
16 thick hair 58 30 Very rare (1%) Frequent (79-30%)
HP:0100874
17 aspiration pneumonia 58 30 Very rare (1%) Frequent (79-30%)
HP:0011951
18 gastrostomy tube feeding in infancy 58 30 Frequent (33%) Frequent (79-30%)
HP:0011471
19 chronic lung disease 58 30 Frequent (33%) Frequent (79-30%)
HP:0006528
20 ptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000508
21 sleep apnea 58 30 Very rare (1%) Occasional (29-5%)
HP:0010535
22 high palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000218
23 hypothyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000821
24 macroglossia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000158
25 cataract 58 30 Very rare (1%) Occasional (29-5%)
HP:0000518
26 short nose 58 30 Very rare (1%) Occasional (29-5%)
HP:0003196
27 thick eyebrow 58 30 Very rare (1%) Occasional (29-5%)
HP:0000574
28 full cheeks 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000293
29 congestive heart failure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001635
30 micrognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000347
31 hypoplastic toenails 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001800
32 horseshoe kidney 58 30 Very rare (1%) Occasional (29-5%)
HP:0000085
33 myopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000545
34 abnormal fingernail morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001231
35 asthma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002099
36 downslanted palpebral fissures 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000494
37 downturned corners of mouth 58 30 Very rare (1%) Occasional (29-5%)
HP:0002714
38 low-set, posteriorly rotated ears 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000368
39 vesicoureteral reflux 58 30 Very rare (1%) Occasional (29-5%)
HP:0000076
40 laryngomalacia 58 30 Very rare (1%) Occasional (29-5%)
HP:0001601
41 thin upper lip vermilion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000219
42 long philtrum 58 30 Very rare (1%) Occasional (29-5%)
HP:0000343
43 amblyopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000646
44 proptosis 58 30 Very rare (1%) Occasional (29-5%)
HP:0000520
45 hypospadias 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000047
46 glossoptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000162
47 gynecomastia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000771
48 small hand 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0200055
49 pulmonary arterial hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002092
50 wormian bones 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002645

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Hands:
brachydactyly

Genitourinary Ureters:
vesicoureteral reflux

Skin Nails Hair Hair:
thick hair

Respiratory Airways:
tracheal stenosis

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:
obesity

Cardiovascular Vascular:
patent ductus arteriosus

Respiratory Larynx:
laryngomalacia

Respiratory Lung:
aspiration pneumonia
chronic lung disease

Cardiovascular Heart:
septal defects

Skeletal Spine:
vertebral abnormalities

Genitourinary Kidneys:
horseshoe kidney (1 patient)

Clinical features from OMIM®:

616368 (Updated 08-Dec-2022)

Drugs & Therapeutics for Chops Syndrome

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

(show top 50) (show all 222)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
2
Vincristine Approved, Investigational Phase 4 2068-78-2, 57-22-7 5978
3
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
4
Doxorubicin Approved, Investigational Phase 4 23214-92-8 31703
5
Etoposide Approved Phase 4 33419-42-0 36462
6
Levoleucovorin Approved, Experimental, Investigational Phase 4 68538-85-2, 58-05-9, 73951-54-9 149436 6006
7
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 4112 126941
8
Ifosfamide Approved Phase 4 3778-73-2 3690
9
Hydrocortisone succinate Approved Phase 4 2203-97-6 3643
10
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
11
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 3640 5754
12
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
13
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
14
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
15
Palifosfamide Investigational Phase 4 31645-39-3 100427
16
Pirarubicin Investigational Phase 4 72496-41-4 4844
17
Rivoceranib Investigational Phase 4 811803-05-1 11315474
18
Daclizumab Investigational, Withdrawn Phase 4 152923-56-3
19 Antirheumatic Agents Phase 4
20 Liposomal doxorubicin Phase 4
21 Immunologic Factors Phase 4
22 Antineoplastic Agents, Hormonal Phase 4
23 Anti-Bacterial Agents Phase 4
24 Alkylating Agents Phase 4
25 Antineoplastic Agents, Alkylating Phase 4
26 Antimitotic Agents Phase 4
27 Hormones Phase 4
28 Hormone Antagonists Phase 4
29 Tubulin Modulators Phase 4
30 Anti-Inflammatory Agents Phase 4
31 glucocorticoids Phase 4
32 Antibiotics, Antitubercular Phase 4
33 Immunosuppressive Agents Phase 4
34 Antimetabolites Phase 4
35
Etoposide phosphate Phase 4 16760419
36 Dermatologic Agents Phase 4
37 Folic Acid Antagonists Phase 4
38 Folate Phase 4
39 Vitamin B9 Phase 4
40 Vitamin B Complex Phase 4
41 Anti-Retroviral Agents Phase 4
42 Hydrocortisone 17-butyrate 21-propionate Phase 4
43 Antihypertensive Agents Phase 4
44
Angiotensinogen Phase 4 16133225
45 Angiotensin Receptor Antagonists Phase 4
46 Angiotensin II Type 1 Receptor Blockers Phase 4
47 Giapreza Phase 4
48
Thalidomide Approved, Investigational, Withdrawn Phase 3 50-35-1 5426
49
Rituximab Approved Phase 3 174722-31-7
50
Darbepoetin alfa Approved, Investigational Phase 3 209810-58-2

Interventional clinical trials:

(show top 50) (show all 331)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 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
5 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
6 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. Active, not recruiting NCT02752815 Phase 4 Rituximab;Cyclophosphamide;Epirubicin;Vincristine;Prednisone
7 Multicenter, Randomized, Double-blind, Parallel Controlled, Phase III Clinical Study to Compare the Efficacy and Safety of TQB2303 in Conbination With CHOP Regimen (T-CHOP) Versus Rituximab in Combination With CHOP Regimen (R-CHOP) in Previously Untreated Subjects With CD20-Positive Diffuse Large B-cell Lymphoma (DLBCL) Unknown status NCT03777085 Phase 3 TQB2303;Rituximab
8 Multi-center Randomized Study to Compare Efficacy and Safety of Decitabine Plus CHOP (D-CHOP) Versus CHOP in Patients With Previously Untreated Peripheral T-cell Lymphoma Unknown status NCT03553537 Phase 3 Decitabine;Cyclophosphamide;Doxorubicin;Vincristine;Prednisone
9 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
10 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
11 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
12 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
13 A Multi-center, Randomized, Double-blind, Controlled, and Parallel Phase III Study to Compare the Efficacy and Safety of GB241 (Recombinant Anti-CD20 Human-Mouse Chimeric Monoclonal Antibody Injection, Experimental Drug) Plus CHOP Versus Rituximab Plus CHOP in Untreated Diffuse Large B-cell Lymphoma (DLBCL) Patients Unknown status NCT03650933 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 Cinobufacini Tablets Combined With R-CHOP Protocol (Rituximab + Vindesine + Cyclophosphamide + Epirubicin + Prednisone)/CHOP in Treatment of Diffuse Large B Cell Lymphoma: A Phase II Randomized, Controlled and Multi-center Study Unknown status NCT02871869 Phase 2, Phase 3 vindesine;cyclophosphamide;Epirubicin;prednisone tablets;Cinobufacini Tablets;Rituximab
16 A Phase III, Multicenter, Randomized, Double-blind Study Comparing the Efficacy and Safety of SIBP-02 (Rituximab Biosimilar) and Rituximab Combination With CHOP in Previously Untreated Subjects With CD20+ DLBCL Unknown status NCT04361279 Phase 3 SIBP-02;Rituximab
17 MULTICENTER RANDOMIZED PROGRAM COMPARING HIGH-DOSE CHEMOTHERAPY + RITUXIMAB AND PERIPHERAL BLOOD PROGENITOR CELL (PBPC) AUTOGRAFT vs. CHOP + RITUXIMAB AS FIRST-LINE TREATMENT FOR PATIENTS WITH HIGH-RISK FOLLICULAR LYMPHOMA Unknown status NCT00435955 Phase 3 Rituximab
18 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
19 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
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 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
22 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
23 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
24 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
25 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
26 Phase 3 Randomized, Double-Blind, Placebo Controlled, Multicenter Study to Compare the Efficacy and Safety of Lenalidomide (CC-5013) Plus R-CHOP Chemotherapy (R2-CHOP) Versus Placebo Plus R-CHOP Chemotherapy in Subjects With Previously Untreated Activated B-cell Type Diffuse Large B-cell Lymphoma Completed NCT02285062 Phase 3 lenalidomide;Placebo;Rituximab;Cyclophosphamide;Doxorubicin;prednisone;vincristine
27 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
28 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
29 A Randomized, Phase IIIB, Open-label, Two-arm, Multicenter, comparatiVe Study on Efficacy and Safety of Lipegfilgrastim (Lonquex, TEVA) in Comparison to Pegfilgrastim (Neulasta(R), 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
30 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
31 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
32 A Randomized Phase 3 Study to Evaluate the Efficacy and Safety of Enzastaurin Plus R-CHOP Versus R-CHOP in Treatment-Naive Subjects With High-Risk Diffuse Large B-Cell Lymphoma Who Possess the Novel Genomic Biomarker DGM1™ Completed NCT03263026 Phase 3 Enzastaurin Hydrochloride
33 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 Completed NCT00052936 Phase 3 CHOP regimen;cyclophosphamide;doxorubicin hydrochloride;prednisone;vincristine sulfate
34 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
35 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]
36 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
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 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
39 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
40 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
41 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
42 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
43 Phase III Study of Treatment of Disseminated and Agressive Lymphoma R CHOP Versus R CLOP( With Liposomal Doxorubicin) Completed NCT00536393 Phase 2, Phase 3 Doxorubicin;Doxorubicin pegylated
44 A Randomized, Double-blind, Placebo-controlled Phase 3 Study of the Bruton's Tyrosine Kinase (BTK) Inhibitor, PCI-32765 (Ibrutinib), in Combination With Rituximab, Cyclophosphamide, Doxorubicin, Vincristine, and Prednisone (R-CHOP) in Subjects With Newly Diagnosed Non-Germinal Center B-Cell Subtype of Diffuse Large B-Cell Lymphoma Completed NCT01855750 Phase 3 Ibrutinib;Placebo;Rituximab;Cyclophosphamide;Doxorubicin;Vincristine;Prednisone (or equivalent)
45 Randomized Study of ACVBP Plus Rituximab Versus CHOP Plus Rituximab in Patients Aged From 18 to 59 Years With Diffuse Large B-cell Lymphoma and a Age-adjusted IPI of 1. Completed NCT00140595 Phase 3 rituximab;doxorubicin;cyclophosphamide
46 Phase III Trial Comparing CHOP ot PMitCEBO in Good Risk Patients With Histologically Aggresive Non Hodgkin's Lymphoma Completed NCT00005867 Phase 3 CHOP regimen;cyclophosphamide;doxorubicin hydrochloride;etoposide;mitoxantrone hydrochloride;prednisolone;vincristine sulfate
47 A RANDOMIZED PROSPECTIVE TRIAL OF CHOP VERSUS MCOP IN ELDERLY PATIENTS WITH INTERMEDIATE AND HIGH GRADE NON-HODGKIN'S LYMPHOMA (AGED 65 YEARS AND OVER) Completed NCT00002576 Phase 3 cyclophosphamide;doxorubicin hydrochloride;mitoxantrone hydrochloride;prednisolone;vincristine sulfate
48 RANDOMIZED COMPARISON OF ALTERNATING TRIPLE THERAPY ("ATT") VERUS CHOP IN PATIENTS WITH INTERMEDIATE GRADE LYMPHOMAS AND IMMUNOBLASTIC LYMPHOMAS WITH INTERNATIONAL INDEX 2-5 Completed NCT00002565 Phase 3 CHOP regimen;cisplatin;cyclophosphamide;cytarabine;doxorubicin hydrochloride;etoposide;idarubicin;ifosfamide;mesna;methylprednisolone;mitoxantrone hydrochloride;prednisone;vincristine sulfate
49 Standard Chemotherapy (CHOP Regimen) Versus Sequential High-Dose Chemotherapy With Autologous Stem Cell Transplantation in Patients With Newly Diagnosed Aggressive Non-Hodgkin's Lymphomas and Poor Prognostic Factors: A Randomized Phase III Study (MISTRAL) Completed NCT00003215 Phase 3 CHOP regimen;cyclophosphamide;cytarabine;doxorubicin hydrochloride;etoposide;leucovorin calcium;melphalan;methotrexate;methylprednisolone;mitoxantrone hydrochloride;prednisone;therapeutic hydrocortisone;vincristine sulfate
50 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

Search NIH Clinical Center for Chops Syndrome

Genetic Tests for Chops Syndrome

Genetic tests related to Chops Syndrome:

# Genetic test Affiliating Genes
1 Cognitive Impairment - Coarse Facies - Heart Defects - Obesity - Pulmonary Involvement - Short Stature - Skeletal Dysplasia Syndrome 28 AFF4

Anatomical Context for Chops Syndrome

Organs/tissues related to Chops Syndrome:

MalaCards : Heart, Lung, Bone, Testes, Kidney, Eye, Breast
ODiseA: Respiratory System-Trachea, Respiratory System-Lung, Respiratory System

Publications for Chops Syndrome

Articles related to Chops Syndrome:

(show top 50) (show all 445)
# Title Authors PMID Year
1
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. 62 57 5
25730767 2015
2
A case of CHOPS syndrome accompanied with moyamoya disease and systemic vasculopathy. 62 5
33248856 2021
3
Clinical and molecular spectrum of CHOPS syndrome. 62 5
31058441 2019
4
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network. 5
34782754 2022
5
AFF4, a component of the ELL/P-TEFb elongation complex and a shared subunit of MLL chimeras, can link transcription elongation to leukemia. 5
20159561 2010
6
Exon/intron structure of the human AF-4 gene, a member of the AF-4/LAF-4/FMR-2 gene family coding for a nuclear protein with structural alterations in acute leukaemia. 5
9233580 1997
7
Shelf-Life Evaluation of Pork Loins as Influenced by the Application of Different Antimicrobial Interventions. 62
36360077 2022
8
RNA-Seq exploration of the influence of stress on meat quality in Spanish goats. 62
36446782 2022
9
Effects of feeding high oleic soybean oil to growing-finishing pigs on loin and belly quality. 62
36029478 2022
10
Differences in carcass chilling rate underlie differences in sensory traits of pork chops from pigs with heavier carcass weights. 62
35727741 2022
11
Effect of nitric oxide treatment on pork meat quality, microstructure, and total bacterial count during postmortem aging. 62
35567902 2022
12
Dataset on the content of vitamin D3 and 25-hydroxyvitamin D3 in 40 pork (Breitov breed) commodities. 62
35515980 2022
13
The association between meat and fish intake by preparation methods and breast cancer in the Carolina Breast Cancer Study (CBCS). 62
35275284 2022
14
Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes. 62
34919300 2022
15
Evaluating the impact of feeding dried distillers grains with solubles on Boer goat growth performance, meat color stability, and antioxidant capacity. 62
35702176 2022
16
Consumer evaluation of meat quality from barrows, immunocastrates and boars in six countries. 62
35183012 2022
17
Cardiac Arrest during Cesarean Section - A Case Report and Review of the Differential Diagnosis. 62
34674192 2022
18
Biden needs scientists with policy chops. 62
35165433 2022
19
Sweet and sour: A quantitative analysis of methane emissions in contrasting Alberta, Canada, heavy oil developments. 62
34627914 2022
20
Relationship between Inherent Cooking Rate and Warner-Bratzler Shear Force of Pork Chops Cooked to Two Degrees of Doneness. 62
35010257 2022
21
The Technique of Phacoemulsification and Intraocular Lens Implantation in Subluxated Cataract Surgery. 62
36248257 2022
22
Characteristics of Pork Muscles Cooked to Varying End-Point Temperatures. 62
34945514 2021
23
The Effect of Cooking Method and Cooked Color on Consumer Acceptability of Boneless Pork Chops. 62
35010231 2021
24
Chemical Genetics Applied to Elucidate the Physiological Role of Stress-Signaling Molecules on the Wound-Induced Accumulation of Glucosinolates in Broccoli. 62
34961133 2021
25
A Comparison of Fresh Pork Colour Measurements by Using Four Commercial Handheld Devices. 62
34828796 2021
26
Influence of freeze-thawed cycles on pork quality. 62
33171034 2021
27
Oxidative stress and postmortem meat quality in crossbred lambs. 62
33991192 2021
28
Contamination of Retail Meat Samples with Multidrug-Resistant Organisms in Relation to Organic and Conventional Production and Processing: A Cross-Sectional Analysis of Data from the United States National Antimicrobial Resistance Monitoring System, 2012-2017. 62
33978452 2021
29
The Effect of Electrospun Polycaprolactone Nonwovens Containing Chitosan and Propolis Extracts on Fresh Pork Packaged in Linear Low-Density Polyethylene Films. 62
34067772 2021
30
Hemin from porcine blood effectively stabilized color appearance and odor of prepared pork chops upon repeated freeze-thaw cycles. 62
33453553 2021
31
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. 62
33961779 2021
32
Vascular infusion with concurrent vascular rinsing on color, tenderness, and lipid oxidation of hog meat. 62
33373849 2021
33
The Choice Point Model of Acceptance and Commitment Therapy With Inpatient Substance Use and Co-occurring Populations: A Pilot Study. 62
34777161 2021
34
Pork Loin Chop Quality and Muscle Fiber Characteristics as Affected by the Direction of Cut. 62
33375235 2020
35
Application of Neutral Electrolyzed Water on pork chops and its impact on meat quality. 62
33199806 2020
36
Characterizing the amount and variability of intramuscular fat deposition throughout pork loins using barrows and gilts from two sire lines. 62
32845331 2020
37
Meat quality attributes and oxidation stability of loin chops from finishing gilts and cull sows. 62
32624615 2020
38
Effects of repeated retrieval on keyword mediator use: shifting to direct retrieval predicts better learning outcomes. 62
32723148 2020
39
Evaluation of the changes in composition of pork chops during cooking. 62
32904975 2020
40
Effects of Chitosan Coating with Green Tea Aqueous Extract on Lipid Oxidation and Microbial Growth in Pork Chops during Chilled Storage. 62
32532034 2020
41
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. 62
32504491 2020
42
Northeastern U.S. Salmonella Strains from Retail Meat Are More Prevalent and More Resistant to Antimicrobials. 62
31913707 2020
43
Characterizing membrane phospholipid hydrolysis of pork loins throughout three aging periods. 62
31986363 2020
44
Effect of porcine reproductive and respiratory syndrome virus infection and soy isoflavone supplementation on carcass cutability and meat quality of pigs. 62
32166330 2020
45
Occupational Exposure and Carriage of Antimicrobial Resistance Genes (tetW, ermB) in Pig Slaughterhouse Workers. 62
31883001 2020
46
Why do we eat cereal but not lamb chops at breakfast? Investigating Americans' beliefs about breakfast foods. 62
31526837 2020
47
The effects of the LIPEX finishing diet regimen on pork quality, fatty acid profile, palatability, and color stability. 62
32704994 2020
48
An outbreak of monophasic Salmonella Typhimurium associated with raw pork sausage and other pork products, Denmark 2018-19. 62
31813408 2019
49
Effect of a dual enteric and respiratory pathogen challenge on swine growth, efficiency, carcass composition, and pork quality1. 62
31634906 2019
50
The expanding phenotypes of cohesinopathies: one ring to rule them all! 62
31516082 2019

Variations for Chops Syndrome

ClinVar genetic disease variations for Chops Syndrome:

5 (show top 50) (show all 140)
# 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.773G>A (p.Arg258Gln) SNV Likely Pathogenic
1320248 GRCh37: 5:132269984-132269984
GRCh38: 5:132934292-132934292
5 AFF4 NM_014423.4(AFF4):c.778A>G (p.Met260Val) SNV Likely Pathogenic
1698778 GRCh37: 5:132269979-132269979
GRCh38: 5:132934287-132934287
6 AFF4 NM_014423.4(AFF4):c.473A>G (p.Asn158Ser) SNV Uncertain Significance
847269 rs1022009453 GRCh37: 5:132270284-132270284
GRCh38: 5:132934592-132934592
7 AFF4 NM_014423.4(AFF4):c.455A>G (p.Asp152Gly) SNV Uncertain Significance
1054576 GRCh37: 5:132270302-132270302
GRCh38: 5:132934610-132934610
8 AFF4 NM_014423.4(AFF4):c.647C>G (p.Pro216Arg) SNV Uncertain Significance
1368539 GRCh37: 5:132270110-132270110
GRCh38: 5:132934418-132934418
9 AFF4 NM_014423.4(AFF4):c.1204A>G (p.Met402Val) SNV Uncertain Significance
1389457 GRCh37: 5:132234818-132234818
GRCh38: 5:132899126-132899126
10 AFF4 NM_014423.4(AFF4):c.2590C>G (p.Gln864Glu) SNV Uncertain Significance
1404015 GRCh37: 5:132227903-132227903
GRCh38: 5:132892211-132892211
11 AFF4 NM_014423.4(AFF4):c.1865G>A (p.Arg622Gln) SNV Uncertain Significance
1408575 GRCh37: 5:132232457-132232457
GRCh38: 5:132896765-132896765
12 AFF4 NM_014423.4(AFF4):c.767A>G (p.Tyr256Cys) SNV Uncertain Significance
1398040 GRCh37: 5:132269990-132269990
GRCh38: 5:132934298-132934298
13 AFF4 NM_014423.4(AFF4):c.2027T>G (p.Val676Gly) SNV Uncertain Significance
1398199 GRCh37: 5:132232295-132232295
GRCh38: 5:132896603-132896603
14 AFF4 NM_014423.4(AFF4):c.587G>A (p.Arg196Lys) SNV Uncertain Significance
1363791 GRCh37: 5:132270170-132270170
GRCh38: 5:132934478-132934478
15 AFF4 NM_014423.4(AFF4):c.3170T>C (p.Val1057Ala) SNV Uncertain Significance
1419414 GRCh37: 5:132219226-132219226
GRCh38: 5:132883534-132883534
16 AFF4 NM_014423.4(AFF4):c.316A>G (p.Ser106Gly) SNV Uncertain Significance
1473674 GRCh37: 5:132270441-132270441
GRCh38: 5:132934749-132934749
17 AFF4 NM_014423.4(AFF4):c.71G>T (p.Gly24Val) SNV Uncertain Significance
1435575 GRCh37: 5:132272811-132272811
GRCh38: 5:132937119-132937119
18 AFF4 NM_014423.4(AFF4):c.3353A>G (p.Lys1118Arg) SNV Uncertain Significance
1443854 GRCh37: 5:132219043-132219043
GRCh38: 5:132883351-132883351
19 AFF4 NM_014423.4(AFF4):c.1122C>G (p.His374Gln) SNV Uncertain Significance
1490737 GRCh37: 5:132238145-132238145
GRCh38: 5:132902453-132902453
20 AFF4 NM_014423.4(AFF4):c.2236G>C (p.Glu746Gln) SNV Uncertain Significance
1465644 GRCh37: 5:132232086-132232086
GRCh38: 5:132896394-132896394
21 AFF4 NM_014423.4(AFF4):c.830G>T (p.Ser277Ile) SNV Uncertain Significance
1445144 GRCh37: 5:132269927-132269927
GRCh38: 5:132934235-132934235
22 AFF4 NM_014423.4(AFF4):c.40C>T (p.Arg14Trp) SNV Uncertain Significance
1498559 GRCh37: 5:132272842-132272842
GRCh38: 5:132937150-132937150
23 AFF4 NM_014423.4(AFF4):c.1237C>A (p.Pro413Thr) SNV Uncertain Significance
1448623 GRCh37: 5:132234074-132234074
GRCh38: 5:132898382-132898382
24 AFF4 NM_014423.4(AFF4):c.3218C>T (p.Ala1073Val) SNV Uncertain Significance
1346486 GRCh37: 5:132219178-132219178
GRCh38: 5:132883486-132883486
25 AFF4 NM_014423.4(AFF4):c.2446G>A (p.Ala816Thr) SNV Uncertain Significance
1347626 GRCh37: 5:132228047-132228047
GRCh38: 5:132892355-132892355
26 AFF4 NM_014423.4(AFF4):c.2796+1G>A SNV Uncertain Significance
1343216 GRCh37: 5:132223788-132223788
GRCh38: 5:132888096-132888096
27 AFF4 NM_014423.4(AFF4):c.178G>A (p.Asp60Asn) SNV Uncertain Significance
1354161 GRCh37: 5:132270579-132270579
GRCh38: 5:132934887-132934887
28 AFF4 NM_014423.4(AFF4):c.3116C>T (p.Ser1039Phe) SNV Uncertain Significance
1369040 GRCh37: 5:132220795-132220795
GRCh38: 5:132885103-132885103
29 AFF4 NM_014423.4(AFF4):c.2995A>G (p.Thr999Ala) SNV Uncertain Significance
1356977 GRCh37: 5:132223223-132223223
GRCh38: 5:132887531-132887531
30 AFF4 NM_014423.4(AFF4):c.123+3A>G SNV Uncertain Significance
1373344 GRCh37: 5:132272756-132272756
GRCh38: 5:132937064-132937064
31 AFF4 NM_014423.4(AFF4):c.1709C>T (p.Ala570Val) SNV Uncertain Significance
1374999 GRCh37: 5:132232613-132232613
GRCh38: 5:132896921-132896921
32 AFF4 NM_014423.4(AFF4):c.1133+3A>G SNV Uncertain Significance
974988 rs1760573869 GRCh37: 5:132238131-132238131
GRCh38: 5:132902439-132902439
33 AFF4 NM_014423.4(AFF4):c.454G>A (p.Asp152Asn) SNV Uncertain Significance
1353899 GRCh37: 5:132270303-132270303
GRCh38: 5:132934611-132934611
34 AFF4 NM_014423.4(AFF4):c.493A>C (p.Lys165Gln) SNV Uncertain Significance
1399345 GRCh37: 5:132270264-132270264
GRCh38: 5:132934572-132934572
35 AFF4 NM_014423.4(AFF4):c.880C>T (p.His294Tyr) SNV Uncertain Significance
1386984 GRCh37: 5:132269877-132269877
GRCh38: 5:132934185-132934185
36 AFF4 NM_014423.4(AFF4):c.1835A>G (p.Asn612Ser) SNV Uncertain Significance
1394183 GRCh37: 5:132232487-132232487
GRCh38: 5:132896795-132896795
37 AFF4 NM_014423.4(AFF4):c.1589G>T (p.Gly530Val) SNV Uncertain Significance
1405216 GRCh37: 5:132232733-132232733
GRCh38: 5:132897041-132897041
38 AFF4 NM_014423.4(AFF4):c.1067A>G (p.Asn356Ser) SNV Uncertain Significance
1430224 GRCh37: 5:132240080-132240080
GRCh38: 5:132904388-132904388
39 AFF4 NM_014423.4(AFF4):c.844A>C (p.Asn282His) SNV Uncertain Significance
1422477 GRCh37: 5:132269913-132269913
GRCh38: 5:132934221-132934221
40 AFF4 NM_014423.4(AFF4):c.2760A>G (p.Gln920=) SNV Uncertain Significance
1471871 GRCh37: 5:132223825-132223825
GRCh38: 5:132888133-132888133
41 AFF4 NM_014423.4(AFF4):c.2015A>G (p.Asn672Ser) SNV Uncertain Significance
1434325 GRCh37: 5:132232307-132232307
GRCh38: 5:132896615-132896615
42 AFF4 NM_014423.4(AFF4):c.7C>T (p.Arg3Cys) SNV Uncertain Significance
1495722 GRCh37: 5:132272875-132272875
GRCh38: 5:132937183-132937183
43 AFF4 NM_014423.4(AFF4):c.1208C>T (p.Pro403Leu) SNV Uncertain Significance
1447756 GRCh37: 5:132234814-132234814
GRCh38: 5:132899122-132899122
44 AFF4 NM_014423.4(AFF4):c.2303A>G (p.His768Arg) SNV Uncertain Significance
1487936 GRCh37: 5:132232019-132232019
GRCh38: 5:132896327-132896327
45 AFF4 NM_014423.4(AFF4):c.318C>A (p.Ser106Arg) SNV Uncertain Significance
1449609 GRCh37: 5:132270439-132270439
GRCh38: 5:132934747-132934747
46 AFF4 NM_014423.4(AFF4):c.164T>C (p.Met55Thr) SNV Uncertain Significance
1497312 GRCh37: 5:132270593-132270593
GRCh38: 5:132934901-132934901
47 AFF4 NM_014423.4(AFF4):c.3099+2T>C SNV Uncertain Significance
542217 rs1554073525 GRCh37: 5:132222000-132222000
GRCh38: 5:132886308-132886308
48 AFF4 NM_014423.4(AFF4):c.2162A>G (p.Asn721Ser) SNV Uncertain Significance
1027865 rs1003277559 GRCh37: 5:132232160-132232160
GRCh38: 5:132896468-132896468
49 AFF4 NM_014423.4(AFF4):c.2243A>T (p.His748Leu) SNV Uncertain Significance
1027866 rs1760397242 GRCh37: 5:132232079-132232079
GRCh38: 5:132896387-132896387
50 AFF4 NM_014423.4(AFF4):c.2033C>T (p.Pro678Leu) SNV Uncertain Significance
1033695 rs572126510 GRCh37: 5:132232289-132232289
GRCh38: 5:132896597-132896597

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

73
# 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

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
Content
Loading form....