CHOPS
MCID: CHP002
MIFTS: 44

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 56 52 25 58 73 36 29 6 39
Cognitive Impairment, Coarse Facies, Heart Defects, Obesity, Pulmonary Involvement, Short Stature, and Skeletal Dysplasia 56 25
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome 58 17
Chops 56 73

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal dominant

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


HPO:

31
chops syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:

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


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 bone, and related phenotypes are intellectual disability and global developmental delay

NIH Rare Diseases : 52 CHOPS syndrome is rare condition that affects many different parts of the body. "CHOPS" is an acronym for the primary signs and symptoms associated with the condition, including cognitive impairment, coarse facial features, heart defects , obesity, pulmonary (lung) problems, short stature , and skeletal abnormalities. CHOPS syndrome is caused by changes (mutations ) in the AFF4 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.

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

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

Wikipedia : 74 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 452)
# 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 lymphoma, non-hodgkin, familial 10.7
8 neutropenia 10.7
9 lymphoma, hodgkin, classic 10.7
10 liposarcoma 10.6
11 peripheral t-cell lymphoma 10.5
12 cataract 10.5
13 mantle cell lymphoma 10.5
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 primary mediastinal b-cell lymphoma 10.2
20 colorectal cancer 10.2
21 leukemia, chronic lymphocytic 10.2
22 anaplastic large cell lymphoma 10.2
23 mucositis 10.2
24 thrombocytopenia 10.2
25 macroglobulinemia 10.2
26 aggressive b-cell non-hodgkin lymphoma 10.2
27 angioimmunoblastic t-cell lymphoma 10.2
28 hepatocellular carcinoma 10.1
29 cellular myxoid liposarcoma 10.1
30 primary mediastinal large b-cell lymphoma 10.1
31 burkitt lymphoma 10.1
32 leukemia, acute myeloid 10.1
33 corneal edema 10.1
34 constipation 10.1
35 severe combined immunodeficiency 10.1
36 lymphosarcoma 10.1
37 splenomegaly 10.1
38 ischemia 10.1
39 congestive heart failure 10.1
40 lymphopenia 10.1
41 senile cataract 10.1
42 glioma 10.1
43 indolent b cell lymphoma 10.1
44 post-transplant lymphoproliferative disease 10.1
45 glial tumor 10.1
46 osteogenic sarcoma 10.1
47 marginal zone b-cell lymphoma 10.1
48 t-cell lymphoblastic leukemia/lymphoma 10.1
49 myeloid leukemia 10.1
50 granulocytopenia 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 31 (show top 50) (show all 86)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
6 highly arched eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002553
7 synophrys 58 31 hallmark (90%) Very frequent (99-80%) HP:0000664
8 long eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000527
9 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
10 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
11 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
12 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
13 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
14 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
15 round face 58 31 frequent (33%) Frequent (79-30%) HP:0000311
16 thick hair 58 31 frequent (33%) Frequent (79-30%) HP:0100874
17 aspiration pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0011951
18 gastrostomy tube feeding in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0011471
19 chronic lung disease 58 31 frequent (33%) Frequent (79-30%) HP:0006528
20 macroglossia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000158
21 hearing impairment 58 31 occasional (7.5%) Frequent (79-30%) HP:0000365
22 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
23 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
24 thick eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0000574
25 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
26 full cheeks 58 31 occasional (7.5%) Occasional (29-5%) HP:0000293
27 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
28 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
29 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
30 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
31 hypoplastic toenails 58 31 occasional (7.5%) Occasional (29-5%) HP:0001800
32 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
33 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
34 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
35 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
36 downturned corners of mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0002714
37 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
38 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
39 laryngomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001601
40 thin upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000219
41 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
42 amblyopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000646
43 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
44 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
45 asthma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002099
46 glossoptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000162
47 gynecomastia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000771
48 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
49 small hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0200055
50 wormian bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0002645

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
coarse facial features
round face

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 Lung:
aspiration pneumonia
chronic lung disease

Head And Neck Mouth:
downturned corners of the mouth

Head And Neck Ears:
hearing loss (1 patient)

Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development

Head And Neck Nose:
short nose

Abdomen Gastrointestinal:
gastroesophageal reflux

Growth Weight:
obesity

Cardiovascular Vascular:
patent ductus arteriosus

Respiratory Larynx:
laryngomalacia

Respiratory Airways:
tracheal stenosis

Cardiovascular Heart:
septal defects

Skeletal Spine:
vertebral abnormalities

Genitourinary Kidneys:
horseshoe kidney (1 patient)

Clinical features from OMIM:

616368

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:

40
Heart, Lung, Bone, Kidney, Testes, Eye, Liver

Publications for Chops Syndrome

Articles related to Chops Syndrome:

(show top 50) (show all 407)
# Title Authors PMID Year
1
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. 61 6 56
25730767 2015
2
Effects of Chitosan Coating with Green Tea Aqueous Extract on Lipid Oxidation and Microbial Growth in Pork Chops during Chilled Storage. 61
32532034 2020
3
Replacing cottonseed meal and sorghum grain with corn dried distillers' grains with solubles in lamb feedlot diets: carcass, trained sensory panel, and volatile aroma compounds traits. 61
32504491 2020
4
Characterizing membrane phospholipid hydrolysis of pork loins throughout three aging periods. 61
31986363 2020
5
Northeastern U.S. Salmonella Strains from Retail Meat Are More Prevalent and More Resistant to Antimicrobials. 61
31913707 2020
6
Effect of porcine reproductive and respiratory syndrome virus infection and soy isoflavone supplementation on carcass cutability and meat quality of pigs. 61
32166330 2020
7
Occupational Exposure and Carriage of Antimicrobial Resistance Genes (tetW, ermB) in Pig Slaughterhouse Workers. 61
31883001 2020
8
Why do we eat cereal but not lamb chops at breakfast? Investigating Americans' beliefs about breakfast foods. 61
31526837 2020
9
An outbreak of monophasic Salmonella Typhimurium associated with raw pork sausage and other pork products, Denmark 2018-19. 61
31813408 2019
10
Effect of a dual enteric and respiratory pathogen challenge on swine growth, efficiency, carcass composition, and pork quality1. 61
31634906 2019
11
The expanding phenotypes of cohesinopathies: one ring to rule them all! 61
31516082 2019
12
Food Service Pork Chops from Three U.S. Regions Harbor Similar Levels of Antimicrobial Resistance Regardless of Antibiotic Use Claims. 61
31532250 2019
13
Potassium carbonate improves fresh pork quality characteristics. 61
31226650 2019
14
Implementation of a model of care for hospitalised older persons with cognitive impairment (the Confused Hospitalised Older Persons program) in six New South Wales hospitals. 61
31496063 2019
15
Tannin-rich sainfoin pellet supplementation reduces fat volatile indoles content and delays digestive parasitism in lambs grazing alfalfa. 61
30614428 2019
16
Meat quality of pork loins from Hereford×Berkshire female and intact male pigs reared in an alternative production system. 61
30744332 2019
17
TECHNICAL NOTE: A method for detection of differences in cook loss and tenderness of aged pork chops cooked to differing degrees of doneness using sous-vide. 61
31190071 2019
18
Clinical and molecular spectrum of CHOPS syndrome. 61
31058441 2019
19
Effects of feeding juniper as a roughage on feedlot performance, carcass measurements, meat sensory attributes, and volatile aroma compounds of yearling Rambouillet wethers1,2. 61
31100114 2019
20
Disinfectant and Antimicrobial Susceptibility Profiles of Campylobacter coli Isolated in 1998 to 1999 and 2015 from Swine and Commercial Pork Chops. 61
31116418 2019
21
A Chemical Strategy for Protease Substrate Profiling. 61
31006619 2019
22
Final internal cooking temperature of pork chops influenced consumer eating experience more than visual color and marbling or ultimate pH. 61
30968136 2019
23
Monitoring of pork liver and meat products on the Dutch market for the presence of HEV RNA. 61
30849707 2019
24
Special-Fed Veal: Separable components, proximate composition, and nutrient analysis of selected raw and cooked, wholesale and retail cuts. 61
30292700 2019
25
Different methods of chopping in cataract surgery. 61
30334824 2019
26
The effects of ultimate pH and color on sensory traits of pork loin chops cooked to a medium-rare degree of doneness. 61
29982650 2018
27
Whole-Genome Sequence Analysis of CTX-M Containing Escherichia coli Isolates from Retail Meats and Cattle in the United States. 61
30148698 2018
28
Evaluation of the antimicrobial efficacy of neutral electrolyzed water on pork products and the formation of viable but nonculturable (VBNC) pathogens. 61
29526207 2018
29
Characterization of methane emissions from five cold heavy oil production with sands (CHOPS) facilities. 61
29513645 2018
30
Influence of feeding thermally peroxidized soybean oil to finishing pigs on carcass characteristics, loin quality, and shelf life of loin chops. 61
29726946 2018
31
Display stability of fresh and thawed lamb supplemented with vitamin E or sprayed with an antioxidant borage seed extract. 61
29143965 2018
32
Fatty acid composition of intramuscular fat and odour-active compounds of lamb commercialized in northern Spain. 61
29459300 2018
33
Effect of packaging type during postmortem aging and degree of doneness on pork chop sensory traits of loins selected to vary in color and marbling. 61
29509888 2018
34
Consumer visual appraisal and shelf life of leg chops from suckling kids raised with natural milk or milk replacer. 61
29076213 2018
35
Reduction of androstenone perception in pan-fried boar meat by different masking strategies. 61
28981163 2018
36
Impact of Cooking Procedures and Storage Practices at Home on Consumer Exposure to Listeria Monocytogenes and Salmonella Due to the Consumption of Pork Meat. 61
28846810 2018
37
Substituting ground woody plants for cottonseed hulls in lamb feedlot diets: carcass characteristics, adipose tissue fatty acid composition, and sensory panel traits. 61
29385610 2018
38
Interactions of organic acids with Campylobacter coli from swine. 61
30096155 2018
39
Effect of dietary vitamin E on physicochemical and fatty acid stability of fresh and thawed lamb. 61
28873514 2018
40
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. 61
29342928 2018
41
Dose-Dependent Effects of Green Tea or Maté Extracts on Lipid and Protein Oxidation in Brine-Injected Retail-Packed Pork Chops. 61
29361744 2018
42
Risk Profile of Hepatitis E Virus from Pigs or Pork in Canada. 61
27718330 2017
43
Effect of hot carcass weight on loin, ham, and belly quality from pigs sourced from a commercial processing facility,. 61
29293702 2017
44
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. 61
29293731 2017
45
Comparisons of Airborne Measurements and Inventory Estimates of Methane Emissions in the Alberta Upstream Oil and Gas Sector. 61
29039181 2017
46
Identification of Plasmid-Mediated Quinolone Resistance in Salmonella Isolated from Swine Ceca and Retail Pork Chops in the United States. 61
28784677 2017
47
Effect of dietary kapok oil supplementation on growth performance, carcass traits, meat quality and sensory traits of pork in finishing-pigs. 61
27891709 2017
48
Effect of borage and green tea aqueous extracts on the quality of lamb leg chops displayed under retail conditions. 61
28285116 2017
49
Consumer preferences for pork chops in five Canadian provinces. 61
28268205 2017
50
A comparison of intact and degraded desmin in cooked and uncooked pork longissimus thoracis and their relationship to pork quality. 61
28267646 2017

Variations for Chops Syndrome

ClinVar genetic disease variations for Chops Syndrome:

6 (show all 23) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AFF4 NM_014423.4(AFF4):c.760A>G (p.Thr254Ala)SNV Pathogenic 190329 rs786205233 5:132269997-132269997 5:132934305-132934305
2 AFF4 NM_014423.4(AFF4):c.761C>G (p.Thr254Ser)SNV Pathogenic 190330 rs786205679 5:132269996-132269996 5:132934304-132934304
3 AFF4 NM_014423.4(AFF4):c.772C>T (p.Arg258Trp)SNV Pathogenic/Likely pathogenic 190331 rs786205680 5:132269985-132269985 5:132934293-132934293
4 AFF4 NM_014423.4(AFF4):c.473A>G (p.Asn158Ser)SNV Uncertain significance 847269 5:132270284-132270284 5:132934592-132934592
5 AFF4 NM_014423.4(AFF4):c.1268_1270dup (p.Ser424_Arg425insTyr)duplication Uncertain significance 523059 rs764600828 5:132234040-132234041 5:132898348-132898349
6 AFF4 NM_014423.4(AFF4):c.3099+2T>CSNV Uncertain significance 542217 rs1554073525 5:132222000-132222000 5:132886308-132886308
7 AFF4 NM_014423.4(AFF4):c.2189C>G (p.Pro730Arg)SNV Uncertain significance 802155 5:132232133-132232133 5:132896441-132896441
8 AFF4 NM_014423.4(AFF4):c.2108C>T (p.Ser703Leu)SNV Likely benign 802156 5:132232214-132232214 5:132896522-132896522
9 AFF4 NM_014423.4(AFF4):c.918T>C (p.Asp306=)SNV Likely benign 720624 5:132269839-132269839 5:132934147-132934147
10 AFF4 NM_014423.4(AFF4):c.3261G>A (p.Gln1087=)SNV Likely benign 735255 5:132219135-132219135 5:132883443-132883443
11 AFF4 NM_014423.4(AFF4):c.3450G>A (p.Gln1150=)SNV Likely benign 797723 5:132216793-132216793 5:132881101-132881101
12 AFF4 NM_014423.4(AFF4):c.2470C>T (p.Pro824Ser)SNV Likely benign 772608 5:132228023-132228023 5:132892331-132892331
13 AFF4 NM_014423.4(AFF4):c.830G>C (p.Ser277Thr)SNV Likely benign 766774 5:132269927-132269927 5:132934235-132934235
14 AFF4 NM_014423.4(AFF4):c.3216G>A (p.Gly1072=)SNV Likely benign 707434 5:132219180-132219180 5:132883488-132883488
15 AFF4 NM_014423.4(AFF4):c.3000A>G (p.Val1000=)SNV Benign 707544 5:132223218-132223218 5:132887526-132887526
16 AFF4 NM_014423.4(AFF4):c.2892A>G (p.Lys964=)SNV Benign 707057 5:132223579-132223579 5:132887887-132887887
17 AFF4 NM_014423.4(AFF4):c.810G>A (p.Leu270=)SNV Benign 707612 5:132269947-132269947 5:132934255-132934255
18 AFF4 NM_014423.4(AFF4):c.554A>T (p.Gln185Leu)SNV Benign 707051 5:132270203-132270203 5:132934511-132934511
19 AFF4 NM_014423.4(AFF4):c.406A>C (p.Thr136Pro)SNV Benign 707492 5:132270351-132270351 5:132934659-132934659
20 AFF4 NM_014423.4(AFF4):c.3319A>G (p.Thr1107Ala)SNV Benign 766939 5:132219077-132219077 5:132883385-132883385
21 AFF4 NM_014423.4(AFF4):c.819G>A (p.Glu273=)SNV Benign 766844 5:132269938-132269938 5:132934246-132934246
22 AFF4 NM_014423.4(AFF4):c.339C>T (p.Pro113=)SNV Benign 772337 5:132270418-132270418 5:132934726-132934726
23 AFF4 NM_014423.4(AFF4):c.1968T>C (p.Ser656=)SNV Benign 791092 5:132232354-132232354 5:132896662-132896662

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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