CHOPS
MCID: CHP002
MIFTS: 38

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 58 54 26 60 76 38 30 6 41
Cognitive Impairment, Coarse Facies, Heart Defects, Obesity, Pulmonary Involvement, Short Stature, and Skeletal Dysplasia 58 26
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome 60 17
Chops 58 76

Characteristics:

Orphanet epidemiological data:

60
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;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
chops syndrome:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Chops Syndrome

NIH Rare Diseases : 54 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.

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 b cells, and related phenotypes are hearing impairment and cataract

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 CHOPS syndrome: A syndrome characterized by cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia.

Wikipedia : 77 CHOP is the acronym for a chemotherapy regimen used in the treatment of non-Hodgkin lymphoma. CHOP... more...

Description 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 207)
# Related Disease Score Top Affiliating Genes
1 diffuse large b-cell lymphoma 11.6
2 follicular lymphoma 11.5
3 adult t-cell leukemia 11.4
4 lymphoma 11.0
5 lymphoma, hodgkin, classic 10.6
6 lymphoma, non-hodgkin, familial 10.6
7 liposarcoma 10.5
8 mantle cell lymphoma 10.4
9 myxoid liposarcoma 10.4
10 neutropenia 10.3
11 b-cell lymphomas 10.3
12 peripheral t-cell lymphoma 10.3
13 cataract 10.3
14 leukemia 10.3
15 primary mediastinal b-cell lymphoma 10.1
16 hepatitis 10.0
17 ischemia 10.0
18 macroglobulinemia 10.0
19 hepatocellular carcinoma 10.0
20 lymphoproliferative syndrome 10.0
21 sarcoma 10.0
22 hypoxia 10.0
23 leukemia, chronic lymphocytic 2 10.0
24 colorectal cancer 10.0
25 leukemia, chronic lymphocytic 10.0
26 rheumatoid arthritis 10.0
27 osteogenic sarcoma 10.0
28 pulmonary fibrosis 10.0
29 lymphocytic leukemia 10.0
30 richter's syndrome 10.0
31 t-cell leukemia 10.0
32 leukemia, b-cell, chronic 10.0
33 primary mediastinal large b-cell lymphoma 10.0
34 intravascular large b-cell lymphoma 10.0
35 exudative vitreoretinopathy 1 9.9
36 lymphoma, mucosa-associated lymphoid type 9.9
37 gastric cancer 9.9
38 anaplastic large cell lymphoma 9.9
39 arthritis 9.9
40 diabetes mellitus 9.9
41 lymphomatoid granulomatosis 9.9
42 post-transplant lymphoproliferative disease 9.9
43 waldenstrom macroglobulinemia 9.9
44 angioimmunoblastic t-cell lymphoma 9.9
45 panniculitis 9.9
46 hyperglycemia 9.9
47 hepatitis e 9.9
48 pneumonia 9.9
49 peripheral nervous system disease 9.9
50 myeloid leukemia 9.9

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



Diseases related to Chops Syndrome

Symptoms & Phenotypes for Chops Syndrome

Human phenotypes related to Chops Syndrome:

33 (show all 27)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 occasional (7.5%) HP:0000365
2 cataract 33 occasional (7.5%) HP:0000518
3 optic atrophy 33 occasional (7.5%) HP:0000648
4 horseshoe kidney 33 occasional (7.5%) HP:0000085
5 hypertelorism 33 HP:0000316
6 obesity 33 HP:0001513
7 intellectual disability 33 HP:0001249
8 coarse facial features 33 HP:0000280
9 global developmental delay 33 HP:0001263
10 short nose 33 HP:0003196
11 thick eyebrow 33 HP:0000574
12 short stature 33 HP:0004322
13 gastroesophageal reflux 33 HP:0002020
14 laryngomalacia 33 HP:0001601
15 patent ductus arteriosus 33 HP:0001643
16 cryptorchidism 33 HP:0000028
17 brachydactyly 33 HP:0001156
18 downturned corners of mouth 33 HP:0002714
19 round face 33 HP:0000311
20 vesicoureteral reflux 33 HP:0000076
21 tracheal stenosis 33 HP:0002777
22 proptosis 33 HP:0000520
23 long eyelashes 33 HP:0000527
24 thick hair 33 HP:0100874
25 chronic lung disease 33 HP:0006528
26 aspiration pneumonia 33 HP:0011951
27 abnormal cardiac septum morphology 33 HP:0001671

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
proptosis
long eyelashes
thick eyebrows
optic atrophy (1 patient)
more
Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development

Head And Neck Nose:
short nose

Abdomen Gastrointestinal:
gastroesophageal reflux

Cardiovascular Vascular:
patent ductus arteriosus

Skeletal Hands:
brachydactyly

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:
obesity

Head And Neck Face:
coarse facial features
round face

Growth Height:
short stature

Respiratory Larynx:
laryngomalacia

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary Ureters:
vesicoureteral reflux

Skin Nails Hair Hair:
thick hair

Cardiovascular Heart:
septal defects

Skeletal Spine:
vertebral abnormalities

Genitourinary Kidneys:
horseshoe kidney (1 patient)

Clinical features from OMIM:

616368

Drugs & Therapeutics for Chops Syndrome

Search Clinical Trials , NIH Clinical Center for Chops Syndrome

Genetic Tests for Chops Syndrome

Genetic tests related to Chops Syndrome:

# Genetic test Affiliating Genes
1 Chops Syndrome 30 AFF4

Anatomical Context for Chops Syndrome

MalaCards organs/tissues related to Chops Syndrome:

42
Heart, Lung, B Cells, Kidney, T Cells, Bone, Thyroid

Publications for Chops Syndrome

Articles related to Chops Syndrome:

(show top 50) (show all 83)
# Title Authors Year
1
Clinical and molecular spectrum of CHOPS syndrome. ( 31058441 )
2019
2
Final internal cooking temperature of pork chops influenced consumer eating experience more than visual color and marbling or ultimate pH. ( 30968136 )
2019
3
Consumer visual appraisal and shelf life of leg chops from suckling kids raised with natural milk or milk replacer. ( 29076213 )
2018
4
Dose-Dependent Effects of Green Tea or Maté Extracts on Lipid and Protein Oxidation in Brine-Injected Retail-Packed Pork Chops. ( 29361744 )
2018
5
Characterization of methane emissions from five cold heavy oil production with sands (CHOPS) facilities. ( 29513645 )
2018
6
Influence of feeding thermally peroxidized soybean oil to finishing pigs on carcass characteristics, loin quality, and shelf life of loin chops. ( 29726946 )
2018
7
The effects of ultimate pH and color on sensory traits of pork loin chops cooked to a medium-rare degree of doneness. ( 29982650 )
2018
8
Consumer preferences for pork chops in five Canadian provinces. ( 28268205 )
2017
9
Effect of borage and green tea aqueous extracts on the quality of lamb leg chops displayed under retail conditions. ( 28285116 )
2017
10
The effects of instrumental color and extractable lipid content on sensory characteristics of pork loin chops cooked to a medium-rare degree of doneness. ( 28726999 )
2017
11
Identification of Plasmid-Mediated Quinolone Resistance in Salmonella Isolated from Swine Ceca and Retail Pork Chops in the United States. ( 28784677 )
2017
12
Factors Affecting Detection of Hepatitis E Virus on Canadian Retail Pork Chops and Pork Livers Assayed Using Real-Time RT-PCR. ( 26192650 )
2016
13
Comparative study of mineral composition of beef steak and pork chops depending on the thermal preparation method. ( 27088876 )
2016
14
Antioxidant protection of proteins and lipids in processed pork loin chops through feed supplementation with avocado. ( 27478235 )
2016
15
Consumers dislike boar taint related off-flavours in pork chops regardless of a meal context. ( 27521500 )
2016
16
Effect of different tumbling marinade treatments on the water status and protein properties of prepared pork chops. ( 25363864 )
2015
17
Survival of Porcine teschovirus as a surrogate virus on pork chops during storage at 2°C. ( 25461604 )
2015
18
Effect of different tumbling marination treatments on the quality characteristics of prepared pork chops. ( 25557823 )
2015
19
Utilization of gum tragacanth as bind enhancing agent in extended restructured mutton chops. ( 25745233 )
2015
20
Effect of Different Tumbling Marination Methods and Time on the Water Status and Protein Properties of Prepared Pork Chops. ( 26104408 )
2015
21
Dissolved carbon dioxide and oxygen concentrations in purge of vacuum-packaged pork chops and the relationship to shelf life and models for estimating microbial populations. ( 26143235 )
2015
22
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. ( 25730767 )
2015
23
Survey of Canadian retail pork chops and pork livers for detection of hepatitis E virus, norovirus, and rotavirus using real time RT-PCR. ( 24929681 )
2014
24
Colour, myoglobin denaturation and storage stability of raw and cooked mutton chops at different end point cooking temperature. ( 24803706 )
2014
25
Efficacy of flaxseed flour as bind enhancing agent on the quality of extended restructured mutton chops. ( 25049949 )
2014
26
Evaluation of sensory quality of calf chops: a new methodological approach. ( 23403302 )
2013
27
Chopping Out CHOP Chops the Fate of Neurons. ( 24348111 )
2013
28
Control of Listeria monocytogenes on frankfurters and cooked pork chops by irradiation combined with modified atmosphere packaging. ( 22691473 )
2012
29
"Losing one's chops": clues to the mystery of embouchure dystonia. ( 20513812 )
2010
30
Consumer choice of pork chops in Taiwan. ( 20416840 )
2010
31
Lambda chops: creation of site-directed mutants in insertable fragments utilizing Gateway technology. ( 19301156 )
2009
32
Intramuscular fat content has little influence on the eating quality of fresh pork loin chops. ( 18156359 )
2008
33
Interactive effect of ractopamine and dietary fat source on pork quality characteristics of fresh pork chops during simulated retail display. ( 18502886 )
2008
34
Compression of fractionated sun-cured and dehydrated alfalfa chops into cubes--specific energy models. ( 16442280 )
2007
35
Effects of microbial inhibitors and modified atmosphere packaging on growth of Listeria monocytogenes and Salmonella enterica Typhimurium and on quality attributes of injected pork chops and sliced cured ham. ( 17133810 )
2006
36
Instrumental evaluation of pH effects on ability of pork chops to bloom. ( 22061869 )
2006
37
Effect of meat appearance on consumer preferences for pork chops in Greece and Cyprus. ( 22061881 )
2006
38
Effect of carbon monoxide and high oxygen modified atmosphere packaging and phosphate enhanced, case-ready pork chops. ( 22063227 )
2006
39
Role of intrinsic search cues in the formation of consumer preferences and choice for pork chops. ( 22062827 )
2005
40
Tired of beef? Try lamb chops. For an easy, memorable dinner, choose lamb chops. ( 15295807 )
2004
41
Effect of the type of frying culinary fat on volatile compounds isolated in fried pork loin chops by using SPME-GC-MS. ( 15675815 )
2004
42
Oxidative stability of chilled pork chops following long term freeze storage. ( 22062417 )
2004
43
Short-term feeding of vitamin D3 improves color but does not change tenderness of pork-loin chops. ( 12211380 )
2002
44
The effect of pig genetics on palatability, color and physical characteristics of fresh pork loin chops. ( 22060847 )
2002
45
Cooking method and endpoint temperature effects on sensory and color characteristics of pumped pork loin chops. ( 22063643 )
2002
46
Feeding high levels of vitamin D3 does not improve tenderness of callipyge lamb loin chops. ( 11518216 )
2001
47
Marbling effects on quality characteristics of pork loin chops: consumer purchase intent, visual and sensory characteristics. ( 22062673 )
2001
48
Carcass traits and retail display-life of chops from different goat breed types. ( 10834580 )
2000
49
Testing for the RN(-) gene in retail pork chops. ( 22060693 )
2000
50
Knowing chops from chuck: roasting myoD redundancy. ( 9670808 )
1998

Variations for Chops Syndrome

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

76
# 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

ClinVar genetic disease variations for Chops Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AFF4 NM_014423.4(AFF4): c.760A> G (p.Thr254Ala) single nucleotide variant Pathogenic rs786205233 GRCh38 Chromosome 5, 132934305: 132934305
2 AFF4 NM_014423.4(AFF4): c.760A> G (p.Thr254Ala) single nucleotide variant Pathogenic rs786205233 GRCh37 Chromosome 5, 132269997: 132269997
3 AFF4 NM_014423.3(AFF4): c.761C> G (p.Thr254Ser) single nucleotide variant Pathogenic rs786205679 GRCh38 Chromosome 5, 132934304: 132934304
4 AFF4 NM_014423.3(AFF4): c.761C> G (p.Thr254Ser) single nucleotide variant Pathogenic rs786205679 GRCh37 Chromosome 5, 132269996: 132269996
5 AFF4 NM_014423.3(AFF4): c.772C> T (p.Arg258Trp) single nucleotide variant Pathogenic rs786205680 GRCh38 Chromosome 5, 132934293: 132934293
6 AFF4 NM_014423.3(AFF4): c.772C> T (p.Arg258Trp) single nucleotide variant Pathogenic rs786205680 GRCh37 Chromosome 5, 132269985: 132269985
7 AFF4 NM_014423.3(AFF4): c.1270_1271insACT (p.Asn423_Ser424insTyr) insertion Uncertain significance rs764600828 GRCh37 Chromosome 5, 132234040: 132234041
8 AFF4 NM_014423.3(AFF4): c.1270_1271insACT (p.Asn423_Ser424insTyr) insertion Uncertain significance rs764600828 GRCh38 Chromosome 5, 132898348: 132898349
9 AFF4 NM_014423.3(AFF4): c.3099+2T> C single nucleotide variant Uncertain significance rs1554073525 GRCh38 Chromosome 5, 132886308: 132886308
10 AFF4 NM_014423.3(AFF4): c.3099+2T> C single nucleotide variant Uncertain significance rs1554073525 GRCh37 Chromosome 5, 132222000: 132222000

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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