MCID: CHP002
MIFTS: 39

Chops Syndrome

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

Aliases & Classifications for Chops Syndrome

MalaCards integrated aliases for Chops Syndrome:

Name: Chops Syndrome 54 50 24 25 56 71 29
Chops 24 71
Cognitive Impairment, Coarse Facies, Heart Defects, Obesity, Pulmonary Involvement, Short Stature, and Skeletal Dysplasia 25
Cognitive Impairment, Coarse Facies, Heart Defects, Obesity, Pulmonary Involvement, Short Stature and Skeletal Dysplasia 24
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
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:

54
Inheritance:
autosomal dominant

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


HPO:

32
chops syndrome:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Chops Syndrome

NIH Rare Diseases : 50 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 chops, is related to diffuse large b-cell lymphoma and follicular lymphoma, and has symptoms including short stature, long eyelashes and brachydactyly. An important gene associated with Chops Syndrome is AFF4 (AF4/FMR2 Family Member 4). The drugs Cyclophosphamide and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and bone.

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.

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 115)
id Related Disease Score Top Affiliating Genes
1 diffuse large b-cell lymphoma 11.3
2 follicular lymphoma 11.2
3 adult t-cell leukemia 11.1
4 lymphoma 10.6
5 b-cell lymphomas 10.5
6 liposarcoma 10.2
7 myxoid liposarcoma 10.1
8 hodgkin lymphoma 10.1
9 peripheral t-cell lymphoma 10.0
10 leukemia 10.0
11 neutropenia 9.9
12 mediastinitis 9.9
13 primary mediastinal large b-cell lymphoma 9.8
14 mantle cell lymphoma 9.8
15 macroglobulinemia 9.8
16 sarcoma 9.7
17 intravascular large b-cell lymphoma 9.7
18 hepatocellular carcinoma 9.7
19 hepatitis 9.7
20 hypoxia 9.7
21 lymphomatoid granulomatosis 9.7
22 t-cell leukemia 9.7
23 thyroiditis 9.7
24 cataract 9.7
25 plasmablastic lymphoma 9.7
26 panniculitis 9.7
27 pancreatitis 9.7
28 adenocarcinoma 9.6
29 pleomorphic liposarcoma 9.6
30 pseudoachondroplasia 9.6
31 castleman disease 9.6
32 histiocytic sarcoma 9.6
33 ischemia 9.6
34 nodular lymphocyte predominant hodgkin lymphoma 9.6
35 cytophagic histiocytic panniculitis 9.6
36 indolent b cell lymphoma 9.6
37 retinitis 9.6
38 neuronitis 9.6
39 bronchiolitis obliterans 9.6
40 myeloid leukemia 9.6
41 lymphoplasmacytic lymphoma 9.6
42 richter's syndrome 9.6
43 thyroid cancer 9.6
44 pneumonia 9.6
45 bronchiolitis 9.6
46 insulin-like growth factor i 9.4
47 hepatitis b 9.4
48 thrombosis 9.4
49 angioimmunoblastic t-cell lymphoma 9.4
50 primary cutaneous diffuse large b-cell lymphoma, leg type 9.4

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:

54

Growth- Height:
short stature

Skeletal- Hands:
brachydactyly

Head And Neck- Face:
coarse facial features
round face

Head And Neck- Nose:
short nose

Genitourinary- Internal Genitalia Male:
cryptorchidism

Cardiovascular- Heart:
septal defects

Growth- Weight:
obesity

Head And Neck- Ears:
hearing loss (1 patient)

Respiratory- Larynx:
laryngomalacia

Skeletal- Spine:
vertebral abnormalities

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

Cardiovascular- Vascular:
patent ductus arteriosus

Abdomen- Gastroin testinal:
gastroesophageal reflux

Genitourinary- Ureters:
vesicoureteral reflux

Head And Neck- Mouth:
downturned corners of the mouth

Respiratory- Airways:
tracheal stenosis

Respiratory- Lung:
chronic lung disease
aspiration pneumonia

Genitourinary- Kidneys:
horseshoe kidney (1 patient)

Skin Nails & Hair- Hair:
thick hair


Clinical features from OMIM:

616368

Human phenotypes related to Chops Syndrome:

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

Drugs & Therapeutics for Chops Syndrome

Drugs for Chops Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 122)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1 50-18-0, 6055-19-2 2907
2
Methotrexate Approved Phase 4,Phase 3,Phase 2 1959-05-2, 59-05-2 126941
3
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3 53-03-2 5865
4
Vincristine Approved, Investigational Phase 4,Phase 3,Phase 2 2068-78-2, 57-22-7 5978
5
Cytarabine Approved, Investigational Phase 4,Phase 3,Phase 2 147-94-4 6253
6
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754 657311
7
rituximab Approved Phase 4,Phase 2 174722-31-7 10201696
8 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Early Phase 1
9 Cortisol succinate Phase 4
10 Hydrocortisone 17-butyrate 21-propionate Phase 4
11 Hydrocortisone acetate Phase 4
12
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
13
Levoleucovorin Approved Phase 3,Phase 2 68538-85-2
14
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
15
Asparaginase Approved Phase 3 9015-68-3
16
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
17
Pegaspargase Approved, Investigational Phase 3 130167-69-0
18
Thioguanine Approved Phase 3 154-42-7 2723601
19
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
20
leucovorin Approved, Nutraceutical Phase 3,Phase 2 58-05-9 143 6006
21
Doxil Approved June 1999 Phase 3,Phase 2 31703
22 Dermatologic Agents Phase 3,Phase 2
23 Anti-Bacterial Agents Phase 3,Phase 2
24 Antibiotics, Antitubercular Phase 3,Phase 2
25 Antidotes Phase 3,Phase 2
26 Antimetabolites Phase 3,Phase 2,Early Phase 1
27 Antimetabolites, Antineoplastic Phase 3,Phase 2,Early Phase 1
28 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
29 Calcium, Dietary Phase 3,Phase 2
30 Folic Acid Antagonists Phase 3,Phase 2
31 Immunosuppressive Agents Phase 3,Phase 2,Early Phase 1
32 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2
33 Protective Agents Phase 3,Phase 2
34 Topoisomerase Inhibitors Phase 3,Phase 2
35 Vitamin B Complex Phase 3,Phase 2
36 Etoposide phosphate Phase 2, Phase 3
37 Peripheral Nervous System Agents Phase 3
38 Alkylating Agents Phase 3,Phase 2,Early Phase 1
39 Anti-Allergic Agents Phase 3
40 Anti-Asthmatic Agents Phase 3
41 Anti-Inflammatory Agents Phase 3,Phase 2
42 Autonomic Agents Phase 3
43 Bronchodilator Agents Phase 3
44
Fluticasone Phase 3 90566-53-3, 80474-14-2 62924 22833648
45 Respiratory System Agents Phase 3
46 2-Aminopurine Phase 3
47 6-Mercaptopurine Phase 3
48 Antiemetics Phase 3
49 Anti-Infective Agents Phase 3,Phase 2,Early Phase 1
50 Antimitotic Agents Phase 3,Phase 2

Interventional clinical trials:

(show all 37)

id Name Status NCT ID Phase Drugs
1 LINFOTARGAM: Treatment With Chemotherapy Plus Rituximab and Highly Active Antiretroviral Therapy in Patients With Diffuse Large B Cell Lymphoma 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
2 Steroids for Pediatric Apnea Research in Kids Recruiting NCT02180672 Phase 3 Nasal Fluticasone;Placebo
3 Risk-Adapted Chemotherapy in Treating Younger Patients With Newly Diagnosed Standard-Risk Acute Lymphoblastic Leukemia or Localized B-Lineage Lymphoblastic Lymphoma Recruiting NCT01190930 Phase 3 Cyclophosphamide;Cytarabine;Dexamethasone;Doxorubicin Hydrochloride;Leucovorin Calcium;Mercaptopurine;Methotrexate;Pegaspargase;Thioguanine;Vincristine Sulfate
4 Combination Chemotherapy With or Without Etoposide in Treating Older Patients With Non-Hodgkin's Lymphoma Terminated NCT00060385 Phase 2, Phase 3 CHOP regimen;EPOCH regimen;cyclophosphamide;doxorubicin hydrochloride;etoposide;prednisone;vincristine sulfate
5 Study of Cyclophosphamide, Hydroxydaunorubicin, Oncovin, Prednisone (CHOP) With Ofatumumab in Patients With Richter's Syndrome Unknown status NCT01171378 Phase 2 Ofatumumab
6 Combination Chemotherapy in Patients With Advanced or Recurrent Mycosis Fungoides Unknown status NCT00002557 Phase 2 CHOP regimen;doxorubicin hydrochloride;etoposide;leucovorin calcium;methotrexate
7 High Dose Therapy and Peripheral Blood Stem Cell Transplantation in HIV Related Non Hodgkin Lymphoma (NHL) at High Risk Completed NCT01045889 Phase 2
8 Study of Ibrutinib & Obinutuzumab With/Without CHOP for Richter's Transformation or Richter's Syndrome Patients Recruiting NCT03145480 Phase 2 Obinutuzumab;Ibrutinib
9 Use of Pancreatic Enzymes in Short Bowel Syndrome Recruiting NCT03097029 Phase 2 Pancreatic Enzyme
10 Smart Start: Study of Rituximab, Lenalidomide, and Ibrutinib Combined With Chemotherapy For Patients With High Risk Diffuse Large B-Cell Lymphoma Recruiting NCT02636322 Phase 2 Rituximab;Ibrutinib;Lenalidomide;Etoposide;Prednisone;Vincristine;Cyclophosphamide;Doxorubicin
11 Alpha/Beta T and CD19+ Depleted Peripheral Stem Cells for Patients With Primary Immunodeficiencies Recruiting NCT02990819 Phase 2
12 Tocilizumab and Hemophagocytic Lymphohistiocytosis (HLH) Recruiting NCT02007239 Phase 2 tocilizumab
13 Intranasal Oxytocin in Hypothalamic Obesity Recruiting NCT02849743 Phase 2 Syntocinon;Placebo (for Syntocinon)
14 PEEP and V/Q Mismatch in Premature Infants Recruiting NCT03109613 Phase 1, Phase 2
15 Romidepsin and Lenalidomide in Treating Patients With Previously Untreated Peripheral T-Cell Lymphoma Recruiting NCT02232516 Phase 2 romidepsin;lenalidomide
16 Allogeneic Stem Cell Transplant With Alpha/Beta T AND B Cell Depletion for Hematologic Malignancies Recruiting NCT02323867 Phase 2
17 Reduced Intensity Conditioning (RIC) Regimen for Patients With Non-malignant Disorders Recruiting NCT01050855 Phase 2 RIC: Distal Campath;RIC:Intermediate Campath;RIC: Mini Busulfan
18 Fat Malabsorption in Chronic Pancreatitis Recruiting NCT02849704 Phase 2 Creon36™
19 Peripheral Blood Stem Cell Transplantation Using the CliniMACS Device Active, not recruiting NCT01071226 Phase 2
20 CD22 Redirected Autologous T Cells for ALL Recruiting NCT02650414 Phase 1
21 Children Follow-up of PCOS Women Completed NCT01767051
22 Evaluation of Panel Reactive Antibody in Children Following Stage I Palliation for Hypoplastic Left Heart Syndrome Completed NCT01135485
23 Pharmacologic Impact on Sedation Assessments Completed NCT01105663
24 Down Syndrome Metabolic Health Study Recruiting NCT01821300
25 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1
26 Cerebral Anatomy, Hemodynamics and Metabolism Recruiting NCT02919956
27 CBF and Childhood OSAS Recruiting NCT02995837
28 Study of the Tocilizumab Optimization Timing for CART19 Associated Cytokine Release Syndrome Recruiting NCT02906371 Tocilizumab;Tocilizumab
29 Unrelated And Partially Matched Related Donor PSCT w/ TCR αβ Depletion for Patients With BMF Recruiting NCT03047746
30 Hypothermia's Impact on Pharmacology Recruiting NCT01560338
31 Impact of CPAP Level on V/Q Mismatch in Premature Infants Recruiting NCT02983825
32 Expanded Access Protocol Using CD3+/CD19+ Depleted PBSC Recruiting NCT02356653 Early Phase 1
33 Exercise in Genetic Cardiovascular Conditions Recruiting NCT02549664
34 Compassionate Use of Omegaven for Pediatric Patients With Parenteral Nutrition Associated Liver Disease Available NCT01297933 Omegaven
35 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia Available NCT01916148 18F-DOPA
36 Expanded Access Protocol Using Alpha/Beta T and CD19+ Depleted PBSC Available NCT03145545
37 Combination Chemotherapy and Denileukin Diftitox in Treating Patients With Newly Diagnosed T-Cell Non-Hodgkin Lymphoma Withdrawn NCT00513188 cyclophosphamide;cytarabine;doxorubicin hydrochloride;leucovorin calcium;methotrexate;prednisone;vincristine sulfate

Search NIH Clinical Center for Chops Syndrome

Genetic Tests for Chops Syndrome

Genetic tests related to Chops Syndrome:

id Genetic test Affiliating Genes
1 Chops Syndrome 29 24 AFF4

Anatomical Context for Chops Syndrome

MalaCards organs/tissues related to Chops Syndrome:

39
Heart, Lung, Bone, T Cells, B Cells, Liver, Kidney

Publications for Chops Syndrome

Variations for Chops Syndrome

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

71
id 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
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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