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CMRD
MCID: CHY002
MIFTS: 63

Chylomicron Retention Disease (CMRD)

Categories: Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Chylomicron Retention Disease

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MalaCards integrated aliases for Chylomicron Retention Disease:

Name: Chylomicron Retention Disease 57 12 53 25 59 74 37 29 13 55 6 44 15 40 72
Cmrd 57 12 53 25 59 74
Anderson Disease 57 12 25 59 74
Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein in Intestinal Cells 57 53 25 74
Lipid Transport Defect of Intestine 57 53 25 74
Malabsorption Syndrome 17 72
Andd 57 74
Malabsorption Syndromes 44
Anderson Disease; Andd 57
Anderson Syndrome 25
Andersons Disease 55
Crd 59

Characteristics:

Orphanet epidemiological data:

59
chylomicron retention disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

32
chylomicron retention disease:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Gastrointestinal diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare gastroenterological diseases
Inborn errors of metabolism
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0060357
OMIM 57 246700
KEGG 37 H00927
ICD10 33 E78.3 K90.4
MESH via Orphanet 45 C535460
ICD10 via Orphanet 34 E78.6
UMLS via Orphanet 73 C0795956
Orphanet 59 ORPHA71
MedGen 42 C0795956
UMLS 72 C0024523 C0795956
Sources

Summaries for Chylomicron Retention Disease

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NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 71DefinitionChylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.EpidemiologyAbout 55 cases have been described to date.Clinical descriptionChylomicron retention disease manifests in infancy or early childhood. Features include an abnormal lipid profile, failure to thrive, chronic malabsorptive diarrhea, vomiting and abdominal distension in early infancy (1-6 months), and vitamin E deficiency. Cardiomyopathy and muscular manifestations have also been described. Essential fatty acid (EFA) deficiency is especially severe early in life. Poor mineralization and delayed bone maturation can occur. Hepatic steatosis is common and hepatomegaly is reported to occur in about 20% of CRD patients. Neurologic complications (areflexia, ataxia, myopathy, sensory neuropathy) and ophthalmologic complications (minor visual abnormalities) are less severe in CRD than in other types of familial hypocholesterolemia.EtiologyThe SAR1B gene has been identified as the cause of CRD. More than 14 different mutations in about 30 patients have been described. This gene encodes the Sar1b protein, which is involved in the transport of chylomicrons (carriers of dietary lipids) from the endoplasmic reticulum to the Golgi apparatus. This mutation results in accumulation of pre-chylomicron transport vesicles in the cytoplasm of enterocytes. Genotyping has revealed that Anderson's disease and CRD are in fact the same condition.Diagnostic methodsDiagnosis is often delayed because symptoms are nonspecific and hypocholesterolemia may be attributed to malnutrition secondary to chronic diarrhea. Diagnosis is based on a history of chronic diarrhea with fat malabsorption and a characteristic abnormal lipid profile: generally a 50% decrease in total cholesterol, LDL-cholesterol (LDL-C) and high-density lipoprotein-cholesterol (HDL-C) in the presence of normal triglycerides. Upper endoscopy and histology reveal fat-laden enterocytes. Elevated creatine kinase (CK) in patients with hypocholesterolemia may be suggestive of CRD. Genotyping makes it possible to identify the SAR1B gene mutations. Parental lipid screening may clarify the diagnosis. An absence of hypocholesterolemia in both parents favors CRD. Consanguinity is frequent in patients with the disorder.Differential diagnosisDifferential diagnosis includes abetalipoproteinemia and other genetic hypocholesterolemias characterized by decreased LDL-C, such as homozygous hypobetalipoproteinemia (HBL; see these terms), and acquired disorders associated with low HDL-C.Genetic counselingThe disease follows an autosomal recessive pattern of inheritance.Management and treatmentFollow-up should be directed toward monitoring nutrition and growth, and treatment compliance. Management should focus on prevention and early detection of complications (hepatic, neuromuscular, retinal and bone). Control of vitamin E deficiency plays a key role in preventing neurological complications. Treatment includes fat-soluble vitamin supplements and large amounts of vitamin E. Vitamin A, in combination with vitamin E, may help to prevent ophthalmologic complications. Early vitamin D treatment makes it possible to prevent osteopenia. Vomiting, diarrhea and abdominal distension improve on a low-long chain fat diet. Dietary counseling is needed not only to monitor fat intake and improve symptoms, but also to maintain sufficient caloric and EFA intake.PrognosisVery long-term follow-up into adulthood is poorly documented.Visit the Orphanet disease page for more resources.

MalaCards based summary : Chylomicron Retention Disease, also known as cmrd, is related to hypobetalipoproteinemia, familial, 2 and hypolipoproteinemia, and has symptoms including nausea and vomiting, constipation and vomiting. An important gene associated with Chylomicron Retention Disease is SAR1B (Secretion Associated Ras Related GTPase 1B), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and Metabolism. The drugs chenodeoxycholic acid and Liraglutide have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and heart, and related phenotypes are diarrhea and hypocholesterolemia

Disease Ontology : 12 A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has material basis in mutations in the SAR1B gene on chromosome 5q31.1.

Genetics Home Reference : 25 Chylomicron retention disease is an inherited disorder that impairs the normal absorption of fats, cholesterol, and certain vitamins from food. The features of chylomicron retention disease primarily affect the gastrointestinal system and nervous system. Chylomicron retention disease begins in infancy or early childhood. Affected children have slow growth and weight gain, frequent (chronic) diarrhea, and foul-smelling stools (steatorrhea). They also have reduced blood cholesterol levels (hypocholesterolemia). Some individuals with chylomicron retention disease develop an abnormal buildup of fats in the liver called hepatic stenosis and can have an enlarged liver. Other features of chylomicron retention disease develop later in childhood and often impair the function of the nervous system. Affected people may develop decreased reflexes (hyporeflexia) and a decreased ability to sense vibrations. Rarely, affected individuals have heart abnormalities or muscle wasting (amyotrophy).

OMIM : 57 Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy (Dannoura et al., 1999). (246700)

KEGG : 37
Chylomicron retention disease (CRD) is a rare autosomal recessive disorder characterized by malabsorption, failure to thrive (FTT), developmental difficulties, mental retardation, abnormal vibration sense, and hyporeflexia. CRD is caused by a mutation in the SAR1B gene, which codes for an essential component of the vesicular coat protein complex II (COPII) necessary for endoplasmic reticulum to Golgi transport.

UniProtKB/Swiss-Prot : 74 Chylomicron retention disease: An autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. The condition is characterized by deficiency of fat-soluble vitamins, low blood cholesterol levels, and a selective absence of chylomicrons from blood. Affected individuals accumulate chylomicron-like particles in membrane-bound compartments of enterocytes, which contain large cytosolic lipid droplets.

Wikipedia : 75 Chylomicron retention disease is a disorder of fat absorption. It is associated with SAR1B. Mutations in... more...

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Related Diseases for Chylomicron Retention Disease

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Diseases related to Chylomicron Retention Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 335)
# Related Disease Score Top Affiliating Genes
1 hypobetalipoproteinemia, familial, 2 32.5 APOB APOA1
2 hypolipoproteinemia 31.5 SAR1B MTTP APOB APOA1
3 steatorrhea 30.4 SLC10A2 MTTP
4 vitamin e, familial isolated deficiency of 30.4 APOB APOA1
5 hypobetalipoproteinemia, familial, 1 30.3 SAR1B MTTP APOB
6 fatty liver disease, nonalcoholic 1 30.3 MTTP FABP1
7 abetalipoproteinemia 30.1 SAR1B MTTP APOB APOA1
8 inherited metabolic disorder 29.6 APOB APOA1
9 methionine malabsorption syndrome 12.3
10 lysine malabsorption syndrome 12.3
11 partington-anderson syndrome 12.3
12 cone-rod dystrophy 2 12.3
13 spondylometaphyseal dysplasia with cone-rod dystrophy 12.0
14 cortisone reductase deficiency 11.7
15 tropical sprue 11.5
16 cortisone reductase deficiency 1 11.4
17 cortisone reductase deficiency 2 11.4
18 goiter, multinodular, cystic renal disease, and digital anomalies 11.2
19 refsum disease, classic 11.2
20 daneman davy mancer syndrome 11.2
21 homozygous familial hypercholesterolemia 10.3 MTTP APOB
22 leukodystrophy, hypomyelinating, 3 10.3 APOB APOA1
23 hyperlipoproteinemia, type v 10.3 APOB APOA1
24 chronic kidney disease 10.3
25 dysbaric osteonecrosis 10.3 APOB APOA1
26 fetal macrosomia 10.3 APOB APOA1
27 pericarditis 10.3
28 hypertriglyceridemia, familial 10.2 APOB APOA1
29 sitosterolemia 10.2 MTTP APOB
30 breast cancer 10.2
31 hyperlipoproteinemia, type iii 10.2 APOB APOA1
32 overgrowth syndrome 10.2
33 arcus corneae 10.2 APOB APOA1
34 hyperalphalipoproteinemia 1 10.2 APOB APOA1
35 coronary stenosis 10.2 APOB APOA1
36 lymphoma 10.2
37 celiac disease 1 10.2
38 marinesco-sjogren syndrome 10.2
39 diarrhea 10.2
40 lecithin:cholesterol acyltransferase deficiency 10.2 APOB APOA1
41 giardiasis 10.1
42 agammaglobulinemia 10.1
43 intestinal disease 10.1
44 colorectal cancer 10.1
45 meningioma, radiation-induced 10.1
46 allergic rhinitis 10.1
47 microphthalmia 10.1
48 sarcoma 10.1
49 basal cell carcinoma 10.1
50 mesenchymal cell neoplasm 10.1

Comorbidity relations with Chylomicron Retention Disease via Phenotypic Disease Network (PDN): (show all 12)


Active Peptic Ulcer Disease Acute Cystitis
Celiac Disease 1 Deficiency Anemia
Esophagitis Heart Disease
Intestinal Obstruction Iron Deficiency Anemia
Osteoporosis Pancreatitis, Hereditary
Paralytic Ileus Protein-Energy Malnutrition

Graphical network of the top 20 diseases related to Chylomicron Retention Disease:



Diseases related to Chylomicron Retention Disease
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Symptoms & Phenotypes for Chylomicron Retention Disease

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Human phenotypes related to Chylomicron Retention Disease:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diarrhea 59 32 obligate (100%) Obligate (100%) HP:0002014
2 hypocholesterolemia 59 32 obligate (100%) Obligate (100%) HP:0003146
3 retinopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000488
4 elevated hepatic transaminase 59 32 hallmark (90%) Very frequent (99-80%) HP:0002910
5 steatorrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002570
6 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
7 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
8 growth delay 59 32 frequent (33%) Frequent (79-30%) HP:0001510
9 abdominal distention 59 32 frequent (33%) Frequent (79-30%) HP:0003270
10 increased hepatocellular lipid droplets 59 32 frequent (33%) Frequent (79-30%) HP:0006565
11 abnormality of vitamin metabolism 59 32 frequent (33%) Frequent (79-30%) HP:0100508
12 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
13 hepatic steatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001397
14 emg: myopathic abnormalities 59 32 occasional (7.5%) Occasional (29-5%) HP:0003458
15 areflexia 59 32 very rare (1%) Very rare (<4-1%) HP:0001284
16 impaired proprioception 59 32 very rare (1%) Very rare (<4-1%) HP:0010831
17 acanthocytosis 59 32 very rare (1%) Very rare (<4-1%) HP:0001927
18 intellectual disability 32 HP:0001249
19 myopathy 59 Very rare (<4-1%)
20 hypertriglyceridemia 59 Excluded (0%)
21 reduced tendon reflexes 32 HP:0001315
22 impaired vibratory sensation 32 HP:0002495
23 malnutrition 32 HP:0004395
24 hypoalbuminemia 32 HP:0003073
25 fat malabsorption 59 Very frequent (99-80%)
26 hypotriglyceridemia 32 HP:0012153
27 decreased ldl cholesterol concentration 32 HP:0003563

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive
growth retardation

Neurologic Peripheral Nervous System:
peripheral neuropathy
neurologic deficits may occur secondarily to malabsorption
diminished or absent deep tendon reflexes
diminished vibratory sense

Abdomen Gastrointestinal:
vomiting
malnutrition
steatorrhea
fat malabsorption
severe diarrhea
more
Laboratory Abnormalities:
hypocholesterolemia
deficiency of fat-soluble vitamins
normal serum triglycerides
absence of chylomicrons in lymph and plasma
defect in chylomicron secretion
more

Clinical features from OMIM:

246700

UMLS symptoms related to Chylomicron Retention Disease:


nausea and vomiting, constipation, vomiting, abdominal pain, diarrhea, icterus, dyspepsia, heartburn, gastrointestinal gas, severe diarrhea

MGI Mouse Phenotypes related to Chylomicron Retention Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.56 APOA1 APOB CUBN FABP1 MTTP SAR1B
2 liver/biliary system MP:0005370 9.02 APOA1 APOB FABP1 MTTP SLC10A2
Sources

Drugs & Therapeutics for Chylomicron Retention Disease

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Drugs for Chylomicron Retention Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 113)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
chenodeoxycholic acid Approved Phase 4 474-25-9 10133
2
Liraglutide Approved Phase 4 204656-20-2 44147092
3
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 23925 27284
4
Colestipol Approved Phase 4 26658-42-4
5 Glucagon-Like Peptide 1 Phase 4
6 Cathartics Phase 4
7 Laxatives Phase 4
8 Micronutrients Phase 4
9 Trace Elements Phase 4
10 Nutrients Phase 4
11 Incretins Phase 4
12 Hormone Antagonists Phase 4
13 Hypoglycemic Agents Phase 4
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
15 Dextrans Phase 4
16 Hematinics Phase 4
17 Iron-Dextran Complex Phase 4
18 Iron Supplement Phase 4
19 Plasma Substitutes Phase 4
20 Anticoagulants Phase 4
21 Blood Substitutes Phase 4
22 Cholestyramine Resin Phase 4
23 Gastrointestinal Agents Phase 4
24 Lipid Regulating Agents Phase 4
25 Colesevelam Hydrochloride Phase 4
26 Hypolipidemic Agents Phase 4
27 Bile Acids and Salts Phase 4
28 Antimetabolites Phase 4
29 Anticholesteremic Agents Phase 4
30
Gemcitabine Approved Phase 3 95058-81-4 60750
31
Levoleucovorin Approved, Investigational Phase 3 68538-85-2
32
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 43805 6857599
33
Fluorouracil Approved Phase 3 51-21-8 3385
34
leucovorin Approved Phase 3 58-05-9 143 6006
35
Irinotecan Approved, Investigational Phase 3 100286-90-6, 97682-44-5 60838
36
Pancrelipase Approved, Investigational Phase 3 53608-75-6
37
tannic acid Approved Phase 3 1401-55-4
38
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
39
Propofol Approved, Investigational, Vet_approved Phase 3 2078-54-8 4943
40
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
41
Clonidine Approved Phase 3 4205-90-7 2803
42
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
43 Vitamin B9 Phase 3
44 Folate Phase 3
45 Immunosuppressive Agents Phase 3
46 Antiviral Agents Phase 3
47 Pharmaceutical Solutions Phase 3
48 pancreatin Phase 3
49 Anesthetics, Intravenous Phase 3
50 Anesthetics, Local Phase 3

Interventional clinical trials:

(show top 50) (show all 76)
# Name Status NCT ID Phase Drugs
1 Bileacid Malabsorption and GLP-1 Secretion Completed NCT03009916 Phase 4 "cholestagel®" (Colesevelam);Placebos
2 Validation of Stimulated ∆FGF19 for Diagnosing Bile Acid Diarrhoea Completed NCT03059537 Phase 4 Oral chenodeoxycholic acid stimulation
3 Changes in Bile Acid Homeostasis and Stool Habits After Cholecystectomy Completed NCT03168555 Phase 4 chenodeoxycholic acid
4 MALABSORPTION BLOOD TEST: Toward a Novel Approach to Quantify Steatorrhea Completed NCT00572975 Phase 4
5 Treatment of Bile Acid Malabsorption With Liraglutide Recruiting NCT03955575 Phase 4 Liraglutide 6 MG/ML;Colesevelam
6 Intravenous Iron for Iron-deficiency Anemia in Pregnancy: a Randomized Controlled Trial Recruiting NCT03438227 Phase 4 Iron dextran;Ferrous sulfate 325mg
7 Treatment Effect of Colesevelam for Bile Acid Diarrhoea - a Randomised Placebo-controlled Trial Recruiting NCT03876717 Phase 4 Colesevelam Hydrochloride;Placebo oral capsule
8 Colesevelam for the Treatment of Bile Acid Malabsorption in Patients With Crohn's Disease Terminated NCT01203254 Phase 4 Colesevelam;Placebo
9 Placebo-controlled Randomized Trial to Investigate the Breath Hydrogen Exhalation After a Test Meal Containing Isomaltulose (Palatinose™) or Sucrose in Infants Aged 6-12 Months Unknown status NCT02247102 Phase 3
10 Phase III Italian Multicenter Study Comparing the Combination of 5-fluorouracil/Folinic Acid, Oxaliplatin and Irinotecan (Folfoxiri) Versus Gemcitabine as Adjuvant Treatment for Resected Pancreatic Cancer Unknown status NCT02355119 Phase 3 FOLFOXIRI;Gemcitabine
11 Fructose Malabsorption in Northern Norway. Fructose Malabsorption and Irritable Bowel Syndrome. Completed NCT00555191 Phase 2, Phase 3
12 A Randomized Double-blind (Withdrawal) Phase 3 Study to Evaluate the Efficacy and Tolerability of Pancrelipase MT Capsules Compared With Placebo in the Treatment of Subjects With Cystic Fibrosis-dependent Exocrine Pancreatic Insufficiency Completed NCT00662675 Phase 3 Pancrease MT 10.5, or MT 21;Placebo for Pancrease MT 10.5 or MT 21
13 Evaluation of Topical Lidocaine Spray as Adjuvant to Upper Gastrointestinal Endoscopy in Children and Teenagers Completed NCT00521703 Phase 3 Lidocaine;Tannic acid
14 An Expertise-based Randomized Controlled Trial Comparing Midline Excision Versus Karydakis Operation at Surgery for Pilonidal Sinus Completed NCT00412659 Phase 2, Phase 3
15 Efficacy of Albumin Administration for Volume Replacement in Patients With Severe Sepsis or Septic Shock - the ALBumin Italian Outcome Sepsis (ALBIOS) Study Completed NCT00707122 Phase 3
16 A Placebo Controlled Study of Colesevelam in Fecal Incontinence Recruiting NCT02628626 Phase 3 Colesevelam;Clonidine
17 A Multi-center, Double-blind, Randomized, Three-Arm, Parallel-Group, Placebo Controlled Study to Assess the Efficacy and Safety of NTRA-2112 on Intestinal Malabsorption in Preterm Infants Active, not recruiting NCT02510560 Phase 3 NTRA-2112;Placebo
18 Wheat Flour Subjected to Microbial Transglutaminase Enzymatic Treatment in the Presence of Lysine Ethyl Ester for Alimentary Use in the Treatment of Celiac Disease. Unknown status NCT02472119 Phase 2
19 A Phase II Study of Gefitinib in Benefited Patients With Asymptomatic Brain Metastasis Advanced Non-Small Cell Lung Cancer by Chemotherapy Unknown status NCT00614809 Phase 2 gefitinib
20 A Phase II, Placebo-controlled, Multi-centre, Dose-finding Efficacy and Safety Study of a Range of Doses of A3384 in Patients With Bile Acid Malabsorption (BAM)/Bile Acid Diarrhoea (BAD) Completed NCT02078856 Phase 2 A3384
21 Randomized, Double Blinded, Placebo Controlled Trial to Understand Efficacy of Colesevelam in Diarrhea Predominant IBS Patients With Bile Acid Malabsorption Completed NCT03270085 Phase 2 Colesevelam
22 A Phase II, Randomized, Investigator-Blinded, Parallel-Group, Pilot Study Evaluating the Safety, Palatability and Effectiveness of Four Doses of Pancrelipase Microtablets in the Treatment of Infants and Toddlers With Cystic Fibrosis-Related Pancreatic Insufficiency and Fat Malabsorption Completed NCT00217204 Phase 2 Pancrelipase microtablets
23 Diagnosing Pancreatic-Based Malabsorption in Patients With Chronic Pancreatitis Completed NCT02849704 Phase 2 Creon36™
24 Obeticholic Acid Treatment in Patients With Bile Acid Diarrhoea: an Open-label, Pilot Study of Mechanisms, Safety and Symptom Response. Completed NCT01585025 Phase 2 Obeticholic acid
25 A Phase 2 Randomized, Double-blind, Placebo-controlled Study in HLA-DQ2.5+ Adults With Celiac Disease to Assess the Effect of Nexvax2 on Symptoms After Masked Gluten Food Challenge Active, not recruiting NCT03644069 Phase 2
26 Combined Phase I/II Study of Epirubicin (Pharmorubicin®), Carboplatin (Paraplatin®) and Capecitabine (Xeloda®) (ECC) in the Treatment of Unresectable Locally Advanced or Metastatic Gastric/Gastroesophageal Junction Cancer With Pharmacogenetic Correlates Terminated NCT00130936 Phase 1, Phase 2 Epirubicin;Carboplatin;Capecitabine
27 A Phase 1 Study of Nexvax2 Administered Subcutaneously After a Screening Gluten Food Challenge That Compares Relative Bioavailability With Intradermal Administration in Non-homozygous HLA-DQ2.5+ Adults With Celiac Disease Completed NCT03543540 Phase 1
28 The Early Nasojejunal Tube to Meet Energy Requirements in Intensive Care Study Unknown status NCT00163813
29 Confocal Laser Endomicroscopy in Patients With Diarrhea Unknown status NCT01072110
30 Effect of Whole Milk Intake on the Cardio-metabolic Risk Factors of Healthy Person With or Without Lactose Maldigestion Unknown status NCT02798718
31 An Audit on Management of Chronic Diarrhea Unknown status NCT03269305
32 Ultraviolet Light and Vitamin D in Subjects With Fat Malabsorption or After Gastric Bypass Surgery Completed NCT01910792
33 An Evaluation of the Use of a Peptide-based Formula in an Adult Population Completed NCT02750787
34 Malabsorption as a Cause of Iron Treatment Failure in Infants - A Clinical Observational Study Completed NCT00456729 Metronidazole
35 A Study to Monitor the Use of an Amino Acid-Based Infant Formula Completed NCT02953223
36 Prognostic Indicators as Provided by the EPIC ClearView Completed NCT01476995
37 Measuring the Glycemic Index of Pulse Based Breads Completed NCT03015506
38 Mobile Technologies Assisting Patients & Family Caregivers in Healthy Living Completed NCT01900288
39 Detection of Celiac Disease in Patients With Hypothyroidism Completed NCT01862510
40 Validation of Carbohydrate Intolerance Questionnaire Completed NCT03138902
41 Effect of Genetic Variation in Starch-digesting Enzymes on Digestibility and Glycemic Index of Rice Prepared in Different Ways Completed NCT03667963
42 Evaluation du Niveau d'activité Physique Quotidien, Chez Des Patientes Porteuses d'un Cancer du Sein en période Post thérapeutique Completed NCT02013921
43 Validation of Breath Tests in Diagnosing Small Bowel Bacterial Overgrowth Completed NCT00872092
44 Plasma Citrulline as Quantitative Biomarker of HIV Associate Villous Atrophy in a Tropical Enteropathy Population Completed NCT00816842
45 Effect of UGIR on Quality of Life in Adults With Compromised Gut Function and Malabsorption Completed NCT03011593
46 Discovering Carbohydrate Metabolism Alterations in Normoglycemic Obese Patients Study Completed NCT03506581
47 Efficacy of Fructose Metabolizing Enzymatic Product Fructosin(R) in Patients With Fructose Malabsorption Completed NCT00916487
48 A Combination of Yoghurt Bacteria and Acid Lactase From Aspergillus Oryzae Improves Lactose Digestion in Lactose Malabsorbers More Reliably Than Preparations Containing Acid Lactase or Yoghurt Bacteria Alone Completed NCT01593631
49 Vitamin D Substitution for Patients With Chronic Pancreatitis and Malabsorption Completed NCT01141998 Calcium, Dietary;Cholecalciferol;Cholecalciferol
50 Belgian Screening Project for the Detection of Anderson-Fabry Disease in Hypertrophic Cardiomyopathy Completed NCT01198899

Search NIH Clinical Center for Chylomicron Retention Disease

Cochrane evidence based reviews: malabsorption syndromes

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Genetic Tests for Chylomicron Retention Disease

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Genetic tests related to Chylomicron Retention Disease:

# Genetic test Affiliating Genes
1 Chylomicron Retention Disease 29 SAR1B
Sources

Anatomical Context for Chylomicron Retention Disease

About this section

MalaCards organs/tissues related to Chylomicron Retention Disease:

41
Liver, Bone, Heart, Testes, Brain, Lung, Eye
Sources

Publications for Chylomicron Retention Disease

About this section

Articles related to Chylomicron Retention Disease:

(show top 50) (show all 154)
# Title Authors PMID Year
1
Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome. 38 8 71
10665502 2000
2
SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases. 8 71
17309654 2007
3
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. 8 71
12692552 2003
4
Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities. 38 8
18786134 2008
5
Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein. 38 71
17945526 2008
6
Intestinal apoB synthesis, lipids, and lipoproteins in chylomicron retention disease. 38 8
3430059 1987
7
Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B. Chylomicron retention disease. 38 8
3792776 1987
8
ER-to-Golgi transport: COP I and COP II function (Review). 8
12893528 2003
9
Anderson's disease: exclusion of apolipoprotein and intracellular lipid transport genes. 8
10521380 1999
10
Studies on lipoprotein metabolism in a family with jejunal chylomicron retention. 8
7601203 1995
11
Anderson's disease: no linkage to the apo B locus. 8
8492252 1993
12
Anderson's disease: genetic exclusion of the apolipoprotein-B gene in two families. 8
1985110 1991
13
Hypobetalipoproteinemia with accumulation of an apoprotein B-like protein in intestinal cells. Immunoenzymatic and biochemical characterization of seven cases of Anderson's disease. 8
2426307 1986
14
Using genetically engineered mice to understand apolipoprotein-B deficiency syndromes in humans. 9 38
9824535 1998
15
SAR1B IS NECESSARY TO PROTECT INTESTINAL CELLS FROM DISORDERS OF LIPID HOMEOSTASIS, OXIDATIVE STRESS & INFLAMMATION. 38
31409740 2019
16
Novel mutations of SAR1B gene in four children with chylomicron retention disease. 38
31253576 2019
17
Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients. 38
30782561 2019
18
Chylomicron retention disease: genetics, biochemistry, and clinical spectrum. 38
30640893 2019
19
Breathing Out Completely Before Inhalation: The Most Problematic Step in Application Technique in Patients With Non-Mild Chronic Obstructive Pulmonary Disease. 38
30914956 2019
20
Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease. 38
30021760 2018
21
Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease. 38
29713611 2018
22
Complex genetic architecture in severe hypobetalipoproteinemia. 38
29540175 2018
23
Understanding Chylomicron Retention Disease Through Sar1b Gtpase Gene Disruption: Insight From Cell Culture. 38
28982670 2017
24
Establishment of reference values of α-tocopherol in plasma, red blood cells and adipose tissue in healthy children to improve the management of chylomicron retention disease, a rare genetic hypocholesterolemia. 38
27520363 2016
25
Chylomicron retention disease: A rare cause of chronic diarrhea. 38
27266643 2016
26
Design and rationale of the STRIVE trial to improve cardiometabolic health among children and families. 38
27417980 2016
27
Complex multireference configuration interaction calculations for the K-vacancy Auger states of N(q+) (q = 2-5) ions. 38
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Update on the molecular biology of dyslipidemias. 38
26546829 2016
29
Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B. 38
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30
Animal model of Sar1b deficiency presents lipid absorption deficits similar to Anderson disease. 38
25559265 2015
31
Studying lipoprotein trafficking in zebrafish, the case of chylomicron retention disease. 38
25572701 2015
32
Sar1b transgenic male mice are more susceptible to high-fat diet-induced obesity, insulin insensitivity and intestinal chylomicron overproduction. 38
24657056 2014
33
An infant with vomiting, diarrhea, and failure to thrive. Chylomicron retention disease. 38
24560855 2014
34
Tissue distribution and regulation of the small Sar1b GTPase in mice. 38
24969168 2014
35
Trans-Golgi proteins participate in the control of lipid droplet and chylomicron formation. 38
23033902 2013
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Quantification of age-related and per diopter accommodative changes of the lens and ciliary muscle in the emmetropic human eye. 38
23287789 2013
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Chylomicron retention disease. 38
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Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. 38
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Role of the gut in lipid homeostasis. 38
22811425 2012
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Low rate of production of apolipoproteins B100 and AI in 2 patients with Anderson disease (chylomicron retention disease). 38
22441101 2012
41
Ubiquitin-dependent regulation of COPII coat size and function. 38
22358839 2012
42
Chylomicron retention disease: report of two cases from a Greek Island. 38
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Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence. 38
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[Acupuncture resources in Cochrane Library]. 38
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Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease). 38
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46
Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum. 38
21874758 2011
47
[Primary and secondary hypocholesterolemia]. 38
20957025 2010
48
Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers. 38
20920215 2010
49
Chylomicron retention disease: dystonia as a new clinical feature. 38
20589877 2010
50
Regulation of bile acid synthesis by fat-soluble vitamins A and D. 9
20233723 2010
Sources

Variations for Chylomicron Retention Disease

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ClinVar genetic disease variations for Chylomicron Retention Disease:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SAR1B SAR1B, 2-BP DEL, 75TG deletion Pathogenic
2 SAR1B NM_001033503.3(SAR1B): c.537T> A (p.Ser179Arg) single nucleotide variant Pathogenic rs28942110 5:133942700-133942700 5:134607010-134607010
3 SAR1B SAR1B, 4-BP DUP, 555TTAC duplication Pathogenic
4 SAR1B SAR1B, 349, G-C, -1 single nucleotide variant Pathogenic
5 SAR1B NM_001033503.3(SAR1B): c.364G> T (p.Glu122Ter) single nucleotide variant Pathogenic rs137853125 5:133944178-133944178 5:134608488-134608488
6 SAR1B NM_001033503.3(SAR1B): c.554G> T (p.Gly185Val) single nucleotide variant Pathogenic rs137853126 5:133942683-133942683 5:134606993-134606993
7 SAR1B NM_001033503.3(SAR1B): c.109G> A (p.Gly37Arg) single nucleotide variant Pathogenic rs121917846 5:133956692-133956692 5:134621002-134621002
8 SAR1B NM_001033503.3(SAR1B): c.409G> A (p.Asp137Asn) single nucleotide variant Pathogenic/Likely pathogenic rs28942109 5:133944133-133944133 5:134608443-134608443
9 SAR1B NM_001033503.3(SAR1B): c.280A> C (p.Asn94His) single nucleotide variant Uncertain significance rs755835349 5:133945329-133945329 5:134609639-134609639

UniProtKB/Swiss-Prot genetic disease variations for Chylomicron Retention Disease:

74
# Symbol AA change Variation ID SNP ID
1 SAR1B p.Gly37Arg VAR_016806 rs121917846
2 SAR1B p.Asp137Asn VAR_016807 rs28942109
3 SAR1B p.Ser179Arg VAR_016808 rs28942110
4 SAR1B p.Gly11Asp VAR_059051
5 SAR1B p.Asp75Gly VAR_059052 rs125411460

Sources

Expression for Chylomicron Retention Disease

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Search GEO for disease gene expression data for Chylomicron Retention Disease.
Sources

Pathways for Chylomicron Retention Disease

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Pathways related to Chylomicron Retention Disease according to KEGG:

37
# Name Kegg Source Accession
1 Protein processing in endoplasmic reticulum hsa04141

Pathways related to Chylomicron Retention Disease according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.51 SLC5A1 SLC10A2 SAR1B MTTP FABP1 CUBN
2
Metabolism of water-soluble vitamins and cofactors 66
Show member pathways
 12.24 CUBN APOB APOA1
3
Selenium Micronutrient Network 1
Show member pathways
 11.94 CUBN APOB APOA1
4
Metabolism of fat-soluble vitamins 66
Show member pathways
 11.91 CUBN APOB APOA1
5
Lipoprotein metabolism 66
Show member pathways
 11.64 SAR1B MTTP FABP1 CUBN APOB APOA1
6
Statin Pathway 1
Show member pathways
 11.57 MTTP APOB APOA1
7
PPAR signaling pathway 37
11.38 FABP1 APOA1
8
Bile secretion 37
11.33 SLC5A1 SLC10A2
9
Fat digestion and absorption 37
Show member pathways
 10.9 MTTP FABP1 APOB APOA1
10
PPAR Alpha Pathway 1
10.78 FABP1 APOA1
11
Vitamin digestion and absorption 37
10.71 CUBN APOB APOA1
Sources

GO Terms for Chylomicron Retention Disease

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Cellular components related to Chylomicron Retention Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.88 SLC5A1 FABP1 CUBN APOB APOA1
2 endoplasmic reticulum lumen GO:0005788 9.58 MTTP APOB APOA1
3 endocytic vesicle GO:0030139 9.46 CUBN APOA1
4 brush border membrane GO:0031526 9.43 MTTP CUBN
5 endoplasmic reticulum exit site GO:0070971 9.37 SAR1B APOB
6 very-low-density lipoprotein particle GO:0034361 9.32 APOB APOA1
7 endocytic vesicle lumen GO:0071682 9.26 APOB APOA1
8 low-density lipoprotein particle GO:0034362 9.16 APOB APOA1
9 chylomicron GO:0042627 8.96 APOB APOA1
10 intermediate-density lipoprotein particle GO:0034363 8.62 APOB APOA1

Biological processes related to Chylomicron Retention Disease according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.84 MTTP CUBN APOB APOA1
2 receptor-mediated endocytosis GO:0006898 9.73 CUBN APOB APOA1
3 lipid transport GO:0006869 9.7 MTTP APOB APOA1
4 steroid metabolic process GO:0008202 9.69 CUBN APOB APOA1
5 cholesterol homeostasis GO:0042632 9.61 MTTP APOB APOA1
6 retinoid metabolic process GO:0001523 9.58 APOB APOA1
7 phospholipid transport GO:0015914 9.58 MTTP APOA1
8 cholesterol metabolic process GO:0008203 9.58 CUBN APOB APOA1
9 cholesterol transport GO:0030301 9.57 APOB APOA1
10 cholesterol efflux GO:0033344 9.55 APOB APOA1
11 very-low-density lipoprotein particle assembly GO:0034379 9.49 MTTP APOB
12 high-density lipoprotein particle clearance GO:0034384 9.48 CUBN APOA1
13 chylomicron remodeling GO:0034371 9.46 APOB APOA1
14 triglyceride catabolic process GO:0019433 9.43 FABP1 APOB APOA1
15 lipoprotein biosynthetic process GO:0042158 9.37 APOB APOA1
16 lipoprotein transport GO:0042953 9.33 MTTP CUBN APOB
17 positive regulation of hydrolase activity GO:0051345 9.32 FABP1 APOA1
18 response to nutrient GO:0007584 9.29 APOA1
19 lipoprotein metabolic process GO:0042157 9.13 MTTP APOB APOA1
20 chylomicron assembly GO:0034378 8.8 MTTP APOB APOA1

Molecular functions related to Chylomicron Retention Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 drug binding GO:0008144 9.37 FABP1 CUBN
2 phospholipid binding GO:0005543 9.33 FABP1 APOB APOA1
3 phospholipid transporter activity GO:0005548 9.32 MTTP APOA1
4 cholesterol transporter activity GO:0017127 9.26 APOB APOA1
5 lipid binding GO:0008289 9.13 MTTP FABP1 APOA1
6 lipid transporter activity GO:0005319 8.8 MTTP APOB APOA1
Sources

Sources for Chylomicron Retention Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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