Chops Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Neuronal diseases Cardiovascular diseases Bone diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁹

Rare neurological diseases

Rare cardiac malformations

Rare bone diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 616368

Orphanet ⁵⁹ ORPHA444077

ICD10 via Orphanet ³⁴ Q87.8

MedGen ⁴² C4085597 CN230323

MeSH ⁴⁴ D000015

KEGG ³⁷ H01569

SNOMED-CT via HPO ⁶⁹ 263681008 204878001 197811007 more

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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

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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
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:

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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

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Drugs & Therapeutics for Chops Syndrome

Search Clinical Trials , NIH Clinical Center for Chops Syndrome

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Genetic Tests for Chops Syndrome

Genetic tests related to Chops Syndrome:

#	Genetic test	Affiliating Genes
1	Chops Syndrome ²⁹	AFF4

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Anatomical Context for Chops Syndrome

MalaCards organs/tissues related to Chops Syndrome:

⁴¹

Heart, Lung, Kidney, Bone

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Publications for Chops Syndrome

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Genes for Chops Syndrome

Genes related to Chops Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	AFF4	AF4/FMR2 Family Member 4	Protein Coding	1677.29	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (gain of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	25730767

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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

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Expression for Chops Syndrome

Search GEO for disease gene expression data for Chops Syndrome.

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Pathways for Chops Syndrome

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GO Terms for Chops Syndrome

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Sources for Chops Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia