MCID: CHP002
MIFTS: 40

Chops Syndrome

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

Aliases & Classifications for Chops Syndrome

MalaCards integrated aliases for Chops Syndrome:

Name: Chops Syndrome 53 49 24 55 71 36 28
Cognitive Impairment, Coarse Facies, Heart Defects, Obesity, Pulmonary Involvement, Short Stature, and Skeletal Dysplasia 53 24
Chops 53 71
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



Summaries for Chops Syndrome

NIH Rare Diseases : 49 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. Last updated: 12/1/2015

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, and has symptoms including hypertelorism, obesity and intellectual disability. An important gene associated with Chops Syndrome is AFF4 (AF4/FMR2 Family Member 4). Affiliated tissues include heart, lung and kidney.

Genetics Home Reference : 24 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 : 71 CHOPS syndrome: A syndrome characterized by cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia.

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 147)
# Related Disease Score Top Affiliating Genes
1 diffuse large b-cell lymphoma 11.4
2 follicular lymphoma 11.3
3 adult t-cell leukemia 11.2
4 lymphoma 10.7
5 b-cell lymphomas 10.6
6 ring chromosome y syndrome 10.6
7 liposarcoma 10.3
8 myxoid liposarcoma 10.2
9 lymphoma, hodgkin, classic 10.2
10 lymphoma, non-hodgkin, familial 10.2
11 peripheral t-cell lymphoma 10.1
12 leukemia 10.0
13 neutropenia 10.0
14 mediastinitis 10.0
15 blood group, i system 9.9
16 primary mediastinal large b-cell lymphoma 9.9
17 mantle cell lymphoma 9.9
18 macroglobulinemia 9.9
19 hepatocellular carcinoma 9.8
20 aging 9.8
21 hepatitis 9.8
22 sarcoma 9.8
23 hypoxia 9.8
24 intravascular large b-cell lymphoma 9.8
25 fibrosis of extraocular muscles, congenital, 1 9.8
26 lymphoma, mucosa-associated lymphoid type 9.8
27 cataract 9.8
28 lymphomatoid granulomatosis 9.8
29 panniculitis 9.8
30 ischemia 9.8
31 pancreatitis 9.8
32 cellular myxoid liposarcoma 9.8
33 t-cell leukemia 9.8
34 thyroiditis 9.8
35 plasmablastic lymphoma 9.8
36 pseudoachondroplasia 9.7
37 lung cancer 9.7
38 leukemia, acute myeloid 9.7
39 bronchiolitis obliterans 9.7
40 lymphoplasmacytic lymphoma 9.7
41 richter's syndrome 9.7
42 thyroid cancer 9.7
43 bronchiolitis 9.7
44 adenocarcinoma 9.7
45 retinitis 9.7
46 pneumonia 9.7
47 pleomorphic liposarcoma 9.7
48 neuronitis 9.7
49 myeloid leukemia 9.7
50 castleman disease 9.7

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



Diseases related to Chops Syndrome

Symptoms & Phenotypes for Chops Syndrome

Symptoms via clinical synopsis from OMIM:

53
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 Gastroin testinal:
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

Human phenotypes related to Chops Syndrome:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 obesity 31 HP:0001513
3 intellectual disability 31 HP:0001249
4 coarse facial features 31 HP:0000280
5 hearing impairment 31 occasional (7.5%) HP:0000365
6 cataract 31 occasional (7.5%) HP:0000518
7 global developmental delay 31 HP:0001263
8 short nose 31 HP:0003196
9 thick eyebrow 31 HP:0000574
10 optic atrophy 31 occasional (7.5%) HP:0000648
11 short stature 31 HP:0004322
12 gastroesophageal reflux 31 HP:0002020
13 laryngomalacia 31 HP:0001601
14 patent ductus arteriosus 31 HP:0001643
15 cryptorchidism 31 HP:0000028
16 horseshoe kidney 31 occasional (7.5%) HP:0000085
17 brachydactyly 31 HP:0001156
18 downturned corners of mouth 31 HP:0002714
19 round face 31 HP:0000311
20 vesicoureteral reflux 31 HP:0000076
21 tracheal stenosis 31 HP:0002777
22 proptosis 31 HP:0000520
23 long eyelashes 31 HP:0000527
24 thick hair 31 HP:0100874
25 chronic lung disease 31 HP:0006528
26 aspiration pneumonia 31 HP:0011951
27 abnormal cardiac septum morphology 31 HP:0001671

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 28 AFF4

Anatomical Context for Chops Syndrome

MalaCards organs/tissues related to Chops Syndrome:

38
Heart, Lung, Kidney, Bone

Publications for Chops Syndrome

Articles related to Chops Syndrome:

(show top 50) (show all 463)
# Title Authors Year
1
FUS-CHOP Promotes Invasion in Myxoid Liposarcoma through a SRC/FAK/RHO/ROCK-Dependent Pathway. ( 29190494 )
2018
2
Over-activated PD-1/PD-L1 axis facilitates the chemoresistance of diffuse large B-cell lymphoma cells to the CHOP regimen. ( 29435074 )
2018
3
Bendamustine plus Rituximab Versus R-CHOP as First-Line Treatment for Patients with Follicular Lymphoma Grade 3A: Evidence from a Multicenter, Retrospective Study. ( 29317554 )
2018
4
Continued Excellent Outcomes in Previously Untreated Patients With Follicular Lymphoma After Treatment With CHOP Plus Rituximab or CHOP Plus<sup>131</sup>I-Tositumomab: Long-Term Follow-Up of Phase III Randomized Study SWOG-S0016. ( 29356608 )
2018
5
High frequency and prognostic value of<i>MYD88</i>L265P mutation in diffuse large B-cell lymphoma with R-CHOP treatment. ( 29403563 )
2018
6
R-CHOP, radioimmunotherapy, and maintenance rituximab in untreated follicular lymphoma (SWOG S0801): a single-arm, phase 2, multicentre study. ( 29396094 )
2018
7
Obesity negatively impacts outcome in elderly female patients with aggressive B-cell lymphomas treated with R-CHOP: results from prospective trials of the German high grade non-Hodgkin's lymphoma trial group. ( 29193018 )
2018
8
ABCG2 and NCF4 polymorphisms are associated with clinical outcomes in diffuse large B-cell lymphoma patients treated with R-CHOP. ( 28938556 )
2017
9
GPR4 knockout improves renal ischemia-reperfusion injury and inhibits apoptosis via suppressing the expression of CHOP. ( 29089376 )
2017
10
Prognostic Value of the Pretreatment Advanced Lung Cancer Inflammation Index (ALI) in Diffuse Large B Cell Lymphoma Patients Treated with R-CHOP Chemotherapy. ( 28076862 )
2017
11
Complete remission of primary cutaneous intravascular large B-cell lymphoma with R-CHOP followed by rituximab monotherapy. ( 28508527 )
2017
12
Real world data on young patients with high-risk diffuse large B-cell lymphoma treated with R-CHOP or R-CHOEP - MYC, BCL2 and BCL6 as prognostic biomarkers. ( 29088292 )
2017
13
CHOP negatively regulates Polo-like kinase 2 expression via recruiting C/EBPI+ to the upstream-promoter in human osteosarcoma cell line during ER stress. ( 28652211 )
2017
14
Prognostic value of the soluble interleukin-2 receptor level after patients with follicular lymphoma achieve a response to R-CHOP. ( 28413914 )
2017
15
Encouraging activity for R-CHOP in Advanced Stage Nodular Lymphocyte Predominant Hodgkin Lymphoma. ( 28522441 )
2017
16
Clinicopathologic significance of tumor microenvironment CD11c, and FOXP3 expression in diffuse large B-cell lymphoma patients receiving rituximab, cyclophosphamide, anthracycline, vincristine, and prednisone (R-CHOP) combination chemotherapy. ( 26968188 )
2017
17
Human neutrophil elastase induces endothelial cell apoptosis by activating the PERK-CHOP branch of the unfolded protein response. ( 28507169 )
2017
18
Successful treatment with biweekly CHOP for bone marrow relapse of blastic plasmacytoid dendritic cell neoplasm. ( 28321093 )
2017
19
Oxidized high density lipoprotein induces macrophage apoptosis via toll-like receptor 4-dependent CHOP pathway. ( 27895089 )
2017
20
Treatment outcomes of dose-attenuated CHOP chemotherapy in elderly patients with peripheral T cell lymphoma. ( 29333403 )
2017
21
Achievement of the longest survival of paraneoplastic pemphigus with bronchiolitis obliterans associated with follicular lymphoma using R-CHOP chemotherapy. ( 28791608 )
2017
22
The efficacy and safety of gemcitabine, cisplatin, prednisone, thalidomide versus CHOP in patients with newly diagnosed peripheral T-cell lymphoma with analysis of biomarkers. ( 28597542 )
2017
23
Combination of ofatumumab and reduced-dose CHOP for diffuse large B-cell lymphomas in patients aged 80 years or older: an open-label, multicentre, single-arm, phase 2 trial from the LYSA group. ( 28041583 )
2017
24
Recombinant human endostatin in combination with CHOP regimen for peripheral T cell lymphoma. ( 28053548 )
2017
25
GRP78 inhibition enhances ATF4-induced cell death by the deubiquitination and stabilization of CHOP in human osteosarcoma. ( 28947141 )
2017
26
Patterns of growth factor usage and febrile neutropenia among older patients with diffuse large B-cell non-Hodgkin lymphoma treated with CHOP or R-CHOP: the Intergroup experience (CALGB 9793; ECOG-SWOG 4494). ( 27967294 )
2016
27
Diagnostic dilemmas of high-grade transformation (Richter's syndrome) of chronic lymphocytic leukaemia: results of the phase II National Cancer Research Institute CHOP-OR clinical trial specialist haemato-pathology central review. ( 27345622 )
2016
28
Prognosis of patients with peripheral T cell lymphoma who achieve complete response after CHOP/CHOP-like chemotherapy without autologous stem cell transplantation as an initial treatment. ( 27928587 )
2016
29
RU486 Induces Pro-Apoptotic Endoplasmic Reticulum Stress Through the Induction of CHOP Expression by Enhancing C/EBPI' Expression in Human Renal Carcinoma Caki Cells. ( 26174226 )
2016
30
Chop Deficiency Protects Mice Against Bleomycin-induced Pulmonary Fibrosis by Attenuating M2 Macrophage Production. ( 26883801 )
2016
31
Safety and efficacy of Obinutuzumab with CHOP or bendamustine in previously untreated follicular lymphoma. ( 28011903 )
2016
32
FAM3A attenuates ER stress-induced mitochondrial dysfunction and apoptosis via CHOP-Wnt pathway. ( 26939760 )
2016
33
Expression of activation-induced cytidine deaminase is associated with a poor prognosis of diffuse large B cell lymphoma patients treated with CHOP-based chemotherapy. ( 26077666 )
2016
34
Multiplex polymerase chain reaction-based prognostic models in diffuse large B-cell lymphoma patients treated with R-CHOP. ( 27196819 )
2016
35
PET/CT in primary mediastinal large B-cell lymphoma responding to rituximab-CHOP: An analysis of 106 patients regarding prognostic significance and implications for subsequent radiotherapy. ( 25971363 )
2016
36
Plasmablastic lymphoma: successful management with CHOP and lenalidomide in resource constraint settings. ( 27324386 )
2016
37
Huaiqihuang may protect from proteinuria by resisting MPC5 podocyte damage via targeting p-ERK/CHOP pathway. ( 27186971 )
2016
38
PET/CT in primary mediastinal large B-cell lymphoma responding to rituximab-CHOP. ( 27183879 )
2016
39
Crosstalk between C/EBP homologous protein (CHOP) and glucocorticoid receptor in lung cancer. ( 27496643 )
2016
40
A phase II study of everolimus (RAD001), an mTOR inhibitor plus CHOP for newly diagnosed peripheral T-cell lymphomas. ( 26861608 )
2016
41
Prognostic value of interim FDG-PET in R-CHOP-treated diffuse large B-cell lymphoma: Systematic review and meta-analysis. ( 27637352 )
2016
42
PEITC in End-Stage B-Cell Prolymphocytic Leukemia: Case Report of Possible Sensitization to Salvage R-CHOP. ( 27168399 )
2016
43
Phase II study of amrubicin (SM-5887), a synthetic 9-aminoanthracycline, as first line treatment in patients with metastatic or unresectable soft tissue sarcoma: durable response in myxoid liposarcoma with TLS-CHOP translocation. ( 26897615 )
2016
44
Caffeic acid phenethyl ester enhances TRAIL-mediated apoptosis via CHOP-induced death receptor 5 upregulation in hepatocarcinoma Hep3B cells. ( 27260301 )
2016
45
FOXP2-positive diffuse large B-cell lymphomas exhibit a poor response to R-CHOP therapy and distinct biological signatures. ( 27224915 )
2016
46
Prognostic Role of Pre-Radiation Therapy (18)F-Fluorodeoxyglucose Positron Emission Tomography for Primary Mediastinal B-Cell Lymphomas Treated with R-CHOP or R-CHOP-Like Chemotherapy Plus Radiation. ( 27130796 )
2016
47
Short-course R-CHOP followed by (90)Y-Ibritumomab tiuxetan in previously untreated high-risk elderly diffuse large B-cell lymphoma patients: 7-year long-term results. ( 27176801 )
2016
48
Down-regulation of C/EBP homologous protein (CHOP) expression in gastric cardia adenocarcinoma: Their relationship with clinicopathological parameters and prognostic significance. ( 25582300 )
2015
49
IDH1, a CHOP and C/EBPI^-responsive gene under ER stress, sensitizes human melanoma cells to hypoxia-induced apoptosis. ( 26049021 )
2015
50
Low expression of miRNA-224 predicts poor clinical outcome in diffuse large B-cell lymphoma treated with R-CHOP. ( 26301883 )
2015

Variations for Chops Syndrome

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

71
# 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_014423.3(AFF4): c.760A> G (p.Thr254Ala) single nucleotide variant Pathogenic rs786205233 GRCh38 Chromosome 5, 132934305: 132934305
2 AFF4 NM_014423.3(AFF4): c.761C> G (p.Thr254Ser) single nucleotide variant Pathogenic rs786205679 GRCh38 Chromosome 5, 132934304: 132934304
3 AFF4 NM_014423.3(AFF4): c.772C> T (p.Arg258Trp) single nucleotide variant Pathogenic rs786205680 GRCh38 Chromosome 5, 132934293: 132934293

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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