MCID: CHP002
MIFTS: 31

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 57 53 25 59 75 37 29 6 40
Cognitive Impairment, Coarse Facies, Heart Defects, Obesity, Pulmonary Involvement, Short Stature, and Skeletal Dysplasia 57 25
Chops 57 75
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
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 : 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.

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 hypertelorism and obesity

UniProtKB/Swiss-Prot : 75 CHOPS syndrome: A syndrome characterized by cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia.

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.

Wikipedia : 76 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 137)
# 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 10.8
5 b-cell lymphomas 10.6
6 liposarcoma 10.4
7 lymphoma, hodgkin, classic 10.2
8 myxoid liposarcoma 10.2
9 lymphoma, non-hodgkin, familial 10.2
10 peripheral t-cell lymphoma 10.1
11 leukemia 10.1
12 mediastinitis 10.1
13 neutropenia 10.0
14 aging 9.9
15 mantle cell lymphoma 9.9
16 primary mediastinal b-cell lymphoma 9.9
17 macroglobulinemia 9.9
18 primary mediastinal large b-cell lymphoma 9.9
19 hepatitis 9.9
20 leukemia, chronic lymphocytic 2 9.8
21 hepatocellular carcinoma 9.8
22 leukemia, chronic lymphocytic 9.8
23 sarcoma 9.8
24 leukemia, b-cell, chronic 9.8
25 hypoxia 9.8
26 intravascular large b-cell lymphoma 9.8
27 lymphoma, mucosa-associated lymphoid type 9.8
28 cataract 9.8
29 lymphomatoid granulomatosis 9.8
30 panniculitis 9.8
31 ischemia 9.8
32 pancreatitis 9.8
33 pneumonia 9.8
34 cellular myxoid liposarcoma 9.8
35 t-cell leukemia 9.8
36 thyroiditis 9.8
37 plasmablastic lymphoma 9.8
38 pseudoachondroplasia 9.7
39 lung cancer 9.7
40 leukemia, acute myeloid 9.7
41 bronchiolitis obliterans 9.7
42 lymphoplasmacytic lymphoma 9.7
43 castleman disease 9.7
44 richter's syndrome 9.7
45 thyroid cancer 9.7
46 bronchiolitis 9.7
47 adenocarcinoma 9.7
48 retinitis 9.7
49 pleomorphic liposarcoma 9.7
50 neuronitis 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:

57
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

GenitourinaryInternal GenitaliaMale:
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:

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

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 29 AFF4

Anatomical Context for Chops Syndrome

MalaCards organs/tissues related to Chops Syndrome:

41
Heart, Lung, Kidney, Bone

Publications for Chops Syndrome

Variations for Chops Syndrome

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

75
# 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.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 GRCh38 Chromosome 5, 132886308: 132886308
10 AFF4 NM_014423.3(AFF4): c.3099+2T> C single nucleotide variant Uncertain significance 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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