Chops Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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: [email protected]
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Cardiovascular diseases Bone diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁸

Rare neurological diseases

Rare cardiac malformations

Rare bone diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 616368

MeSH ⁴³ D000015

ICD10 via Orphanet ³² Q87.8

Orphanet ⁵⁸ ORPHA444077

MedGen ⁴⁰ C4085597 CN230323

EFO ¹⁶ EFO_0009031

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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

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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
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:

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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)

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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

Cyclophosphamide

Approved, Investigational

Phase 4

50-18-0, 6055-19-2

2907

Vincristine

Approved, Investigational

Phase 4

2068-78-2, 57-22-7

5978

Prednisone

Approved, Vet_approved

Phase 4

53-03-2

5865

Doxorubicin

Approved, Investigational

Phase 4

23214-92-8

31703

Etoposide

Approved

Phase 4

33419-42-0

36462

Levoleucovorin

Approved, Experimental, Investigational

Phase 4

68538-85-2, 58-05-9, 73951-54-9

149436 6006

Methotrexate

Approved

Phase 4

1959-05-2, 59-05-2

4112 126941

Ifosfamide

Approved

Phase 4

3778-73-2

3690

Hydrocortisone succinate

Approved

Phase 4

2203-97-6

3643

Hydrocortisone acetate

Approved, Vet_approved

Phase 4

50-03-3

Hydrocortisone

Approved, Vet_approved

Phase 4

50-23-7

3640 5754

Valsartan

Approved, Investigational

Phase 4

137862-53-4

60846

Angiotensin II

Approved, Investigational

Phase 4

68521-88-0, 11128-99-7, 4474-91-3

172198

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 4

59-30-3

6037

Palifosfamide

Investigational

Phase 4

31645-39-3

100427

Pirarubicin

Investigational

Phase 4

72496-41-4

4844

Rivoceranib

Investigational

Phase 4

811803-05-1

11315474

Daclizumab

Investigational, Withdrawn

Phase 4

152923-56-3

Antirheumatic Agents

Phase 4

Liposomal doxorubicin

Phase 4

Immunologic Factors

Phase 4

Antineoplastic Agents, Hormonal

Phase 4

Anti-Bacterial Agents

Phase 4

Alkylating Agents

Phase 4

Antineoplastic Agents, Alkylating

Phase 4

Antimitotic Agents

Phase 4

Hormones

Phase 4

Hormone Antagonists

Phase 4

Tubulin Modulators

Phase 4

Anti-Inflammatory Agents

Phase 4

glucocorticoids

Phase 4

Antibiotics, Antitubercular

Phase 4

Immunosuppressive Agents

Phase 4

Antimetabolites

Phase 4

Etoposide phosphate

Phase 4

16760419

Dermatologic Agents

Phase 4

Folic Acid Antagonists

Phase 4

Folate

Phase 4

Vitamin B9

Phase 4

Vitamin B Complex

Phase 4

Anti-Retroviral Agents

Phase 4

Hydrocortisone 17-butyrate 21-propionate

Phase 4

Antihypertensive Agents

Phase 4

Angiotensinogen

Phase 4

16133225

Angiotensin Receptor Antagonists

Phase 4

Angiotensin II Type 1 Receptor Blockers

Phase 4

Giapreza

Phase 4

Thalidomide

Approved, Investigational, Withdrawn

Phase 3

50-35-1

5426

Rituximab

Approved

Phase 3

174722-31-7

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

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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

Sources

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

Sources

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	Izumi K...Krantz ID	25730767	2015
2	A case of CHOPS syndrome accompanied with moyamoya disease and systemic vasculopathy. ⁶² ⁵	Kim SY...Ko JM	33248856	2021
3	Clinical and molecular spectrum of CHOPS syndrome. ⁶² ⁵	Raible SE...Izumi K	31058441	2019
4	Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network. ⁵	Denomme-Pichon AS...Thauvin-Robinet C	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	Lin C...Shilatifard A	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	Nilson I...Marschalek R	9233580	1997
7	Shelf-Life Evaluation of Pork Loins as Influenced by the Application of Different Antimicrobial Interventions. ⁶²	Vargas DA...Echeverry A	36360077	2022
8	RNA-Seq exploration of the influence of stress on meat quality in Spanish goats. ⁶²	Naldurtiker A...Kannan G	36446782	2022
9	Effects of feeding high oleic soybean oil to growing-finishing pigs on loin and belly quality. ⁶²	Gaffield KN...Harsh BN	36029478	2022
10	Differences in carcass chilling rate underlie differences in sensory traits of pork chops from pigs with heavier carcass weights. ⁶²	Price HE...Dilger AC	35727741	2022
11	Effect of nitric oxide treatment on pork meat quality, microstructure, and total bacterial count during postmortem aging. ⁶²	Liu R...Ge Q	35567902	2022
12	Dataset on the content of vitamin D3 and 25-hydroxyvitamin D3 in 40 pork (Breitov breed) commodities. ⁶²	Othman AJ...Shalankina AD	35515980	2022
13	The association between meat and fish intake by preparation methods and breast cancer in the Carolina Breast Cancer Study (CBCS). ⁶²	Omofuma OO...Troester MA	35275284	2022
14	Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes. ⁶²	Hutchison DM...Mesinkovska NA	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	Dahmer PL...Chao MD	35702176	2022
16	Consumer evaluation of meat quality from barrows, immunocastrates and boars in six countries. ⁶²	Aluwe M...Van den Broeke A	35183012	2022
17	Cardiac Arrest during Cesarean Section - A Case Report and Review of the Differential Diagnosis. ⁶²	Lukac S...Flock F	34674192	2022
18	Biden needs scientists with policy chops. ⁶²	Bernard K	35165433	2022
19	Sweet and sour: A quantitative analysis of methane emissions in contrasting Alberta, Canada, heavy oil developments. ⁶²	Lavoie M...Risk D	34627914	2022
20	Relationship between Inherent Cooking Rate and Warner-Bratzler Shear Force of Pork Chops Cooked to Two Degrees of Doneness. ⁶²	Nethery TN...Dilger AC	35010257	2022
21	The Technique of Phacoemulsification and Intraocular Lens Implantation in Subluxated Cataract Surgery. ⁶²	Jiang H...Xu H	36248257	2022
22	Characteristics of Pork Muscles Cooked to Varying End-Point Temperatures. ⁶²	Cauble RN...Sawyer JT	34945514	2021
23	The Effect of Cooking Method and Cooked Color on Consumer Acceptability of Boneless Pork Chops. ⁶²	Honegger LT...Dilger AC	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	Torres-Contreras AM...Jacobo-Velazquez DA	34961133	2021
25	A Comparison of Fresh Pork Colour Measurements by Using Four Commercial Handheld Devices. ⁶²	Wei X...Juarez M	34828796	2021
26	Influence of freeze-thawed cycles on pork quality. ⁶²	Tippala T...Kayan A	33171034	2021
27	Oxidative stress and postmortem meat quality in crossbred lambs. ⁶²	Herrera NJ...Calkins CR	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	Innes GK...Davis MF	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	Vargas Romero E...Bohrer BM	34067772	2021
30	Hemin from porcine blood effectively stabilized color appearance and odor of prepared pork chops upon repeated freeze-thaw cycles. ⁶²	Zhou K...Xu B	33453553	2021
31	Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. ⁶²	Voisin N...Reymond A	33961779	2021
32	Vascular infusion with concurrent vascular rinsing on color, tenderness, and lipid oxidation of hog meat. ⁶²	Kethavath SC...Claus JR	33373849	2021
33	The Choice Point Model of Acceptance and Commitment Therapy With Inpatient Substance Use and Co-occurring Populations: A Pilot Study. ⁶²	Berman BM...Kurlancheek K	34777161	2021
34	Pork Loin Chop Quality and Muscle Fiber Characteristics as Affected by the Direction of Cut. ⁶²	Song S...Kim GD	33375235	2020
35	Application of Neutral Electrolyzed Water on pork chops and its impact on meat quality. ⁶²	Torres-Rosales E...Cano-Buendia JA	33199806	2020
36	Characterizing the amount and variability of intramuscular fat deposition throughout pork loins using barrows and gilts from two sire lines. ⁶²	Redifer JD...Dilger AC	32845331	2020
37	Meat quality attributes and oxidation stability of loin chops from finishing gilts and cull sows. ⁶²	Song DH...Kim HW	32624615	2020
38	Effects of repeated retrieval on keyword mediator use: shifting to direct retrieval predicts better learning outcomes. ⁶²	Dikmans ME...Klatter-Folmer J	32723148	2020
39	Evaluation of the changes in composition of pork chops during cooking. ⁶²	Gaffield KN...Harsh BN	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	Montano-Sanchez E...Torrescano-Urrutia GR	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	Hodges KM...Woerner DR	32504491	2020
42	Northeastern U.S. Salmonella Strains from Retail Meat Are More Prevalent and More Resistant to Antimicrobials. ⁶²	Nyirabahizi E...Strain E	31913707	2020
43	Characterizing membrane phospholipid hydrolysis of pork loins throughout three aging periods. ⁶²	Chao MD...Lonergan SM	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	Bryan EE...Dilger AC	32166330	2020
45	Occupational Exposure and Carriage of Antimicrobial Resistance Genes (tetW, ermB) in Pig Slaughterhouse Workers. ⁶²	Van Gompel L...Smit LAM	31883001	2020
46	Why do we eat cereal but not lamb chops at breakfast? Investigating Americans' beliefs about breakfast foods. ⁶²	Bian L...Markman EM	31526837	2020
47	The effects of the LIPEX finishing diet regimen on pork quality, fatty acid profile, palatability, and color stability. ⁶²	Gonzalez JM...Azain MJ	32704994	2020
48	An outbreak of monophasic Salmonella Typhimurium associated with raw pork sausage and other pork products, Denmark 2018-19. ⁶²	Helmuth IG...Muller L	31813408	2019
49	Effect of a dual enteric and respiratory pathogen challenge on swine growth, efficiency, carcass composition, and pork quality1. ⁶²	Outhouse AC...Lonergan SM	31634906	2019
50	The expanding phenotypes of cohesinopathies: one ring to rule them all! ⁶²	Piche J...Andelfinger G	31516082	2019

Sources

Genes for Chops Syndrome

Genes related to Chops Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	AFF4	ALF Transcription Elongation Factor 4	Protein Coding	1690.95	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁵ Causative germline mutation (gain of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders Publications (show sections)	25730767 9233580 20159561 (more) 31058441 33248856 34782754

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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