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CHOPS
MCID: CHP002
MIFTS: 38
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Chops Syndrome (CHOPS)
Categories:
Bone diseases, Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Chops Syndrome:Characteristics:Orphanet epidemiological data:60
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:58
Inheritance:
autosomal dominant
Miscellaneous:
onset at birth three unrelated patients have been reported (last curated may 2015) HPO:33
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 Respiratory diseases
ICD10:
35
Orphanet: 60
Rare neurological diseases
Rare cardiac malformations
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
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NIH Rare Diseases
:
54
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 b cells, and related phenotypes are hearing impairment and cataract Genetics Home Reference : 26 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 : 76 CHOPS syndrome: A syndrome characterized by cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia. Wikipedia : 77 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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Human phenotypes related to Chops Syndrome:33 (show all 27)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:616368 |
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MalaCards organs/tissues related to Chops Syndrome:42
Heart,
Lung,
B Cells,
Kidney,
T Cells,
Bone,
Thyroid
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Articles related to Chops Syndrome:(show top 50) (show all 83)
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Genes related to Chops Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Chops Syndrome:76
ClinVar genetic disease variations for Chops Syndrome:6
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Search
GEO
for disease gene expression data for Chops Syndrome.
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