Chops Syndrome (CHOPS)

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

Aliases & Classifications for Chops Syndrome

MalaCards integrated aliases for Chops Syndrome:

Name: Chops Syndrome 57 53 25 59 74 37 29 6 40
Cognitive Impairment, Coarse Facies, Heart Defects, Obesity, Pulmonary Involvement, Short Stature, and Skeletal Dysplasia 57 25
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome 59 17
Chops 57 74


Orphanet epidemiological data:

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


autosomal dominant

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


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


External Ids:

OMIM 57 616368
KEGG 37 H01569
MeSH 44 D000015
ICD10 via Orphanet 34 Q87.8
Orphanet 59 ORPHA444077

Summaries for Chops Syndrome

Genetics Home Reference : 25 CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). The name "CHOPS" is an abbreviation for a list of features of the disorder including cognitive impairment, coarse facial features, heart defects, obesity, lung (pulmonary) involvement, short stature, and skeletal abnormalities. Children with CHOPS syndrome have intellectual disability and delayed development of skills such as sitting and walking. Characteristic facial features include a round face; thick hair; thick eyebrows that grow together in the middle (synophrys); wide-set, bulging eyes with long eyelashes; a short nose; and down-turned corners of the mouth. Most affected individuals are born with a heart defect called patent ductus arteriosus (PDA). The ductus arteriosus is a connection between two major arteries, the aorta and the pulmonary artery. This connection is open during fetal development and normally closes shortly after birth. However, the ductus arteriosus remains open, or patent, in babies with PDA. If untreated, this heart defect causes infants to breathe rapidly, feed poorly, and gain weight slowly; in severe cases, it can lead to heart failure. Multiple heart abnormalities have sometimes been found in children with CHOPS syndrome. In addition to PDA, affected individuals may have ventricular septal defect, which is a defect in the muscular wall (septum) that separates the right and left sides of the heart's lower chamber. People with CHOPS syndrome have abnormalities of the throat and airways that cause momentary cessation of breathing while asleep (obstructive sleep apnea). These abnormalities can also cause affected individuals to breathe food or fluids into the lungs accidentally, which can lead to a potentially life-threatening bacterial lung infection (aspiration pneumonia) and chronic lung disease. Affected individuals are shorter than more than 97 percent of their peers and are overweight for their height. They also have skeletal differences including unusually short fingers and toes (brachydactyly) and abnormally-shaped spinal bones (vertebrae). Other features that can occur in CHOPS syndrome include a small head size (microcephaly); hearing loss; clouding of the lens of the eye (cataract); a single, horseshoe-shaped kidney; and, in affected males, undescended testes (cryptorchidism).

MalaCards based summary : Chops Syndrome, also known as cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia, is related to diffuse large b-cell lymphoma and follicular lymphoma. An important gene associated with Chops Syndrome is AFF4 (AF4/FMR2 Family Member 4). Affiliated tissues include heart, lung and kidney, and related phenotypes are hearing impairment and cataract

NIH Rare Diseases : 53 CHOPS syndrome is rare condition that affects many different parts of the body. "CHOPS" is an acronym for the primary signs and symptoms associated with the condition, including cognitive impairment, coarse facial features, heart defects, obesity, pulmonary (lung) problems, short stature, and skeletal abnormalities. CHOPS syndrome is caused by changes (mutations) in the AFF4 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.

KEGG : 37
CHOPS syndrome is a congenital disorder involving multiple abnormalities. The symptoms include cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia. The gain-of-function mutations in the AFF4 gene, encoding a critical component of the super elongation complex (SEC), cause CHOPS syndrome. While CHOPS syndrome and Cornelia de Lange syndrome are clinically recognizable distinct entities there is some phenotypic overlap between these two diagnoses.

UniProtKB/Swiss-Prot : 74 CHOPS syndrome: 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 454)
# Related Disease Score Top Affiliating Genes
1 diffuse large b-cell lymphoma 11.7
2 follicular lymphoma 11.6
3 myxoid liposarcoma 11.6
4 adult t-cell leukemia 11.5
5 b-cell lymphoma 11.0
6 lymphoma 10.8
7 neutropenia 10.7
8 lymphoma, non-hodgkin, familial 10.7
9 lymphoma, hodgkin, classic 10.7
10 liposarcoma 10.6
11 cataract 10.5
12 peripheral t-cell lymphoma 10.4
13 mantle cell lymphoma 10.4
14 b-cell non-hodgkin lymphoma 10.3
15 neuropathy 10.3
16 peripheral nervous system disease 10.3
17 alopecia 10.3
18 lymphoproliferative syndrome 10.2
19 lymphocytic leukemia 10.2
20 colorectal cancer 10.2
21 primary mediastinal b-cell lymphoma 10.2
22 leukemia, chronic lymphocytic 10.2
23 leukemia, b-cell, chronic 10.2
24 mucositis 10.2
25 thrombocytopenia 10.2
26 macroglobulinemia 10.2
27 anaplastic large cell lymphoma 10.2
28 aggressive b-cell non-hodgkin lymphoma 10.2
29 hepatocellular carcinoma 10.1
30 angioimmunoblastic t-cell lymphoma 10.1
31 cellular myxoid liposarcoma 10.1
32 burkitt lymphoma 10.1
33 leukemia, acute myeloid 10.1
34 severe combined immunodeficiency 10.1
35 splenomegaly 10.1
36 hematopoietic stem cell transplantation 10.1
37 primary mediastinal large b-cell lymphoma 10.1
38 corneal edema 10.1
39 constipation 10.1
40 lymphopenia 10.1
41 senile cataract 10.1
42 post-transplant lymphoproliferative disease 10.1
43 ischemia 10.0
44 congestive heart failure 10.0
45 t-cell leukemia 10.0
46 myeloid leukemia 10.0
47 granulocytopenia 10.0
48 indolent b cell lymphoma 10.0
49 leukemia, t-cell, chronic 10.0
50 spinal cord injury 10.0

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:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 occasional (7.5%) HP:0000365
2 cataract 32 occasional (7.5%) HP:0000518
3 optic atrophy 32 occasional (7.5%) HP:0000648
4 horseshoe kidney 32 occasional (7.5%) HP:0000085
5 hypertelorism 32 HP:0000316
6 obesity 32 HP:0001513
7 intellectual disability 32 HP:0001249
8 coarse facial features 32 HP:0000280
9 global developmental delay 32 HP:0001263
10 short nose 32 HP:0003196
11 thick eyebrow 32 HP:0000574
12 short stature 32 HP:0004322
13 gastroesophageal reflux 32 HP:0002020
14 laryngomalacia 32 HP:0001601
15 patent ductus arteriosus 32 HP:0001643
16 cryptorchidism 32 HP:0000028
17 vesicoureteral reflux 32 HP:0000076
18 brachydactyly 32 HP:0001156
19 downturned corners of mouth 32 HP:0002714
20 round face 32 HP:0000311
21 proptosis 32 HP:0000520
22 tracheal stenosis 32 HP:0002777
23 long eyelashes 32 HP:0000527
24 thick hair 32 HP:0100874
25 chronic lung disease 32 HP:0006528
26 aspiration pneumonia 32 HP:0011951
27 abnormal cardiac septum morphology 32 HP:0001671

Symptoms via clinical synopsis from OMIM:

Head And Neck Eyes:
long eyelashes
thick eyebrows
optic atrophy (1 patient)
Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development

Head And Neck Nose:
short nose

Abdomen Gastrointestinal:
gastroesophageal reflux

Cardiovascular Vascular:
patent ductus arteriosus

Genitourinary Ureters:
vesicoureteral reflux

Respiratory Airways:
tracheal stenosis

Respiratory Lung:
chronic lung disease
aspiration pneumonia

Head And Neck Mouth:
downturned corners of the mouth

Head And Neck Ears:
hearing loss (1 patient)

Growth Weight:

Head And Neck Face:
coarse facial features
round face

Growth Height:
short stature

Respiratory Larynx:

Genitourinary Internal Genitalia Male:

Skeletal Hands:

Skin Nails Hair Hair:
thick hair

Cardiovascular Heart:
septal defects

Skeletal Spine:
vertebral abnormalities

Genitourinary Kidneys:
horseshoe kidney (1 patient)

Clinical features from OMIM:


Drugs & Therapeutics for Chops Syndrome

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Benefits of Traditional and Golf-specific Resistance Training in Amateur Female Golfers Completed NCT03247777

Search NIH Clinical Center for Chops Syndrome

Genetic Tests for Chops Syndrome

Genetic tests related to Chops Syndrome:

# Genetic test Affiliating Genes
1 Chops Syndrome 29 AFF4

Anatomical Context for Chops Syndrome

MalaCards organs/tissues related to Chops Syndrome:

Heart, Lung, Kidney, Bone, Testes, Eye, Liver

Publications for Chops Syndrome

Articles related to Chops Syndrome:

(show top 50) (show all 395)
# Title Authors PMID Year
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. 38 8 71
25730767 2015
Potassium carbonate improves fresh pork quality characteristics. 38
31226650 2019
Tannin-rich sainfoin pellet supplementation reduces fat volatile indoles content and delays digestive parasitism in lambs grazing alfalfa. 38
30614428 2019
Effects of feeding juniper as a roughage on feedlot performance, carcass measurements, meat sensory attributes, and volatile aroma compounds of yearling Rambouillet wethers1,2. 38
31100114 2019
Clinical and molecular spectrum of CHOPS syndrome. 38
31058441 2019
TECHNICAL NOTE: A method for detection of differences in cook loss and tenderness of aged pork chops cooked to differing degrees of doneness using sous-vide. 38
31190071 2019
Disinfectant and Antimicrobial Susceptibility Profiles of Campylobacter coli Isolated in 1998 to 1999 and 2015 from Swine and Commercial Pork Chops. 38
31116418 2019
A Chemical Strategy for Protease Substrate Profiling. 38
31006619 2019
Final internal cooking temperature of pork chops influenced consumer eating experience more than visual color and marbling or ultimate pH. 38
30968136 2019
Monitoring of pork liver and meat products on the Dutch market for the presence of HEV RNA. 38
30849707 2019
Meat quality of pork loins from Hereford×Berkshire female and intact male pigs reared in an alternative production system. 38
30744332 2019
Special-Fed Veal: Separable components, proximate composition, and nutrient analysis of selected raw and cooked, wholesale and retail cuts. 38
30292700 2019
Different methods of chopping in cataract surgery. 38
30334824 2019
Whole-Genome Sequence Analysis of CTX-M Containing Escherichia coli Isolates from Retail Meats and Cattle in the United States. 38
30148698 2018
Evaluation of the antimicrobial efficacy of neutral electrolyzed water on pork products and the formation of viable but nonculturable (VBNC) pathogens. 38
29526207 2018
The effects of ultimate pH and color on sensory traits of pork loin chops cooked to a medium-rare degree of doneness. 38
29982650 2018
Characterization of methane emissions from five cold heavy oil production with sands (CHOPS) facilities. 38
29513645 2018
Influence of feeding thermally peroxidized soybean oil to finishing pigs on carcass characteristics, loin quality, and shelf life of loin chops. 38
29726946 2018
Display stability of fresh and thawed lamb supplemented with vitamin E or sprayed with an antioxidant borage seed extract. 38
29143965 2018
Effect of packaging type during postmortem aging and degree of doneness on pork chop sensory traits of loins selected to vary in color and marbling. 38
29509888 2018
Consumer visual appraisal and shelf life of leg chops from suckling kids raised with natural milk or milk replacer. 38
29076213 2018
Fatty acid composition of intramuscular fat and odour-active compounds of lamb commercialized in northern Spain. 38
29459300 2018
Impact of Cooking Procedures and Storage Practices at Home on Consumer Exposure to Listeria Monocytogenes and Salmonella Due to the Consumption of Pork Meat. 38
28846810 2018
Reduction of androstenone perception in pan-fried boar meat by different masking strategies. 38
28981163 2018
Substituting ground woody plants for cottonseed hulls in lamb feedlot diets: carcass characteristics, adipose tissue fatty acid composition, and sensory panel traits. 38
29385610 2018
Interactions of organic acids with Campylobacter coli from swine. 38
30096155 2018
Protein Oxidation and Sensory Quality of Brine-Injected Pork Loins Added Ascorbate or Extracts of Green Tea or Maté during Chill-Storage in High-Oxygen Modified Atmosphere. 38
29342928 2018
Dose-Dependent Effects of Green Tea or Maté Extracts on Lipid and Protein Oxidation in Brine-Injected Retail-Packed Pork Chops. 38
29361744 2018
Effect of dietary vitamin E on physicochemical and fatty acid stability of fresh and thawed lamb. 38
28873514 2018
Risk Profile of Hepatitis E Virus from Pigs or Pork in Canada. 38
27718330 2017
Comparisons of Airborne Measurements and Inventory Estimates of Methane Emissions in the Alberta Upstream Oil and Gas Sector. 38
29039181 2017
Effect of hot carcass weight on loin, ham, and belly quality from pigs sourced from a commercial processing facility,. 38
29293702 2017
Effects of reducing dietary crude protein levels and replacement with crystalline amino acids on growth performance, carcass composition, and fresh pork quality of finishing pigs fed ractopamine hydrochloride. 38
29293731 2017
Identification of Plasmid-Mediated Quinolone Resistance in Salmonella Isolated from Swine Ceca and Retail Pork Chops in the United States. 38
28784677 2017
Effect of dietary kapok oil supplementation on growth performance, carcass traits, meat quality and sensory traits of pork in finishing-pigs. 38
27891709 2017
Effect of borage and green tea aqueous extracts on the quality of lamb leg chops displayed under retail conditions. 38
28285116 2017
Consumer preferences for pork chops in five Canadian provinces. 38
28268205 2017
A comparison of intact and degraded desmin in cooked and uncooked pork longissimus thoracis and their relationship to pork quality. 38
28267646 2017
The effects of instrumental color and extractable lipid content on sensory characteristics of pork loin chops cooked to a medium-rare degree of doneness. 38
28726999 2017
Stability of Bioactive Compounds in Broccoli as Affected by Cutting Styles and Storage Time. 38
28420123 2017
Postmortem protein degradation is a key contributor to fresh pork loin tenderness. 38
28464104 2017
Effects of Anesthetic Fluid Injectates on Lesion Sizes in Cooled Radiofrequency Ablation. 38
27310024 2017
A decade of major vascular trauma: Lessons learned from gang and civilian warfare. 38
27659372 2017
Effects of liquid feeding of corn condensed distiller's solubles and whole stillage on growth performance, carcass characteristics, and sensory traits of pigs. 38
28116075 2017
Omega-3 fatty acids, nutrient retention values, and sensory meat eating quality in cooked and raw Australian lamb. 38
27642709 2017
Evaluation of alkaline electrolyzed water to replace traditional phosphate enhancement solutions: Effects on water holding capacity, tenderness, and sensory characteristics. 38
27770674 2017
Consumers dislike boar taint related off-flavours in pork chops regardless of a meal context. 38
27521500 2016
An evaluation of the effectiveness of FreshCase technology to extend the storage life of whole-muscle pork and ground pork sausage. 38
27898937 2016
Predicting pork loin chop yield using carcass and loin characteristics. 38
27898928 2016
Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes. 38
27867341 2016

Variations for Chops Syndrome

ClinVar genetic disease variations for Chops Syndrome:

# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 AFF4 NM_014423.4(AFF4): c.760A> G (p.Thr254Ala) single nucleotide variant Pathogenic rs786205233 5:132269997-132269997 5:132934305-132934305
2 AFF4 NM_014423.4(AFF4): c.761C> G (p.Thr254Ser) single nucleotide variant Pathogenic rs786205679 5:132269996-132269996 5:132934304-132934304
3 AFF4 NM_014423.4(AFF4): c.772C> T (p.Arg258Trp) single nucleotide variant Pathogenic rs786205680 5:132269985-132269985 5:132934293-132934293
4 AFF4 NM_014423.4(AFF4): c.1268_1270dup (p.Ser424_Arg425insTyr) duplication Uncertain significance rs764600828 5:132234040-132234041 5:132898348-132898349
5 AFF4 NM_014423.4(AFF4): c.3099+2T> C single nucleotide variant Uncertain significance rs1554073525 5:132222000-132222000 5:132886308-132886308

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

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

Expression for Chops Syndrome

Search GEO for disease gene expression data for Chops Syndrome.

Pathways for Chops Syndrome

GO Terms for Chops Syndrome

Sources for Chops Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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