CMRD
MCID: CHY002
MIFTS: 65

Chylomicron Retention Disease (CMRD)

Categories: Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Chylomicron Retention Disease

MalaCards integrated aliases for Chylomicron Retention Disease:

Name: Chylomicron Retention Disease 56 12 52 25 58 73 36 29 13 54 6 43 15 39 71
Cmrd 56 12 52 25 58 73
Anderson Disease 56 12 25 58 73
Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein in Intestinal Cells 56 52 25 73
Lipid Transport Defect of Intestine 56 52 25 73
Malabsorption Syndrome 17 71
Andd 56 73
Malabsorption Syndromes 43
Anderson Disease; Andd 56
Anderson Syndrome 25
Andersons Disease 54
Crd 58

Characteristics:

Orphanet epidemiological data:

58
chylomicron retention disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

31
chylomicron retention disease:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Inborn errors of metabolism
Rare endocrine diseases


Summaries for Chylomicron Retention Disease

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 71 Definition Chylomicron 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. Epidemiology About 55 cases have been described to date. Clinical description Chylomicron 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. Etiology The 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 methods Diagnosis 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 diagnosis Differential 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 counseling The disease follows an autosomal recessive pattern of inheritance. Management and treatment Follow-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. Prognosis Very 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 hypolipoproteinemia and tropical sprue, and has symptoms including vomiting, nausea and vomiting and abdominal pain. 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 hypocholesterolemia and diarrhea

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 : 56 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 : 36 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 : 73 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 : 74 Chylomicron retention disease is a disorder of fat absorption. It is associated with SAR1B. Mutations in... more...

Related Diseases for Chylomicron Retention Disease

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

(show top 50) (show all 355)
# Related Disease Score Top Affiliating Genes
1 hypolipoproteinemia 32.4 SAR1B MTTP APOB APOA1
2 tropical sprue 32.3 PYY LCT
3 abetalipoproteinemia 30.9 SAR1B MTTP APOB APOA1
4 fatty liver disease, nonalcoholic 1 30.5 MTTP FABP1
5 pancreatic agenesis 1 30.0 PNLIP CFTR
6 osmotic diarrhea 29.9 SLC5A1 LCT
7 functional diarrhea 29.9 SLC10A2 LCT
8 hypobetalipoproteinemia, familial, 1 29.8 SAR1B MTTP MIA2 APOB APOA4
9 diarrhea 29.4 SLC5A1 SLC10A2 PYY LCT CFTR
10 kidney disease 29.1 GCG FABP1 CFTR APOB APOA1
11 inherited metabolic disorder 28.8 MTTP MIA2 GCG APOB APOA1
12 body mass index quantitative trait locus 11 27.3 SLC5A1 PYY PNLIP MTTP GCG FABP1
13 methionine malabsorption syndrome 12.3
14 lysine malabsorption syndrome 12.3
15 cone-rod dystrophy 2 12.3
16 partington-anderson syndrome 12.3
17 spondylometaphyseal dysplasia with cone-rod dystrophy 12.0
18 cortisone reductase deficiency 11.8
19 cortisone reductase deficiency 1 11.4
20 cortisone reductase deficiency 2 11.4
21 hypobetalipoproteinemia, familial, 2 11.4
22 goiter, multinodular, cystic renal disease, and digital anomalies 11.4
23 refsum disease, classic 11.2
24 silent myocardial infarction 10.4 APOB APOA1
25 arcus corneae 10.4 APOB APOA1
26 hepatic lipase deficiency 10.4 PNLIP APOA1
27 fanconi-like syndrome 10.3 SLC5A1 CUBN
28 fetal macrosomia 10.3 APOB APOA1
29 homozygous familial hypercholesterolemia 10.3 APOB APOA1
30 sitosterolemia 10.3 MTTP APOB APOA1
31 hyperlipoproteinemia, type i 10.3 PNLIP APOB APOA1
32 familial lipoprotein lipase deficiency 10.3 PNLIP APOB APOA1
33 chronic kidney disease 10.3
34 pericarditis 10.3
35 hyperlipoproteinemia, type iv 10.2 SLC10A2 APOB APOA1
36 hyperlipoproteinemia, type v 10.2 APOB APOA1
37 hypertriglyceridemia, familial 10.2 SLC10A2 APOB APOA1
38 overgrowth syndrome 10.2
39 breast cancer 10.2
40 celiac disease 1 10.2
41 marinesco-sjogren syndrome 10.2
42 lymphoma 10.2
43 giardiasis 10.2
44 agammaglobulinemia 10.2
45 intestinal disease 10.2
46 sucrase-isomaltase deficiency, congenital 10.1 SLC5A1 LCT
47 protein-losing enteropathy 10.1
48 colorectal cancer 10.1
49 meningioma, radiation-induced 10.1
50 exudative vitreoretinopathy 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

Symptoms & Phenotypes for Chylomicron Retention Disease

Human phenotypes related to Chylomicron Retention Disease:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypocholesterolemia 58 31 obligate (100%) Obligate (100%) HP:0003146
2 diarrhea 58 31 obligate (100%) Obligate (100%) HP:0002014
3 retinopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000488
4 elevated hepatic transaminase 58 31 hallmark (90%) Very frequent (99-80%) HP:0002910
5 steatorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002570
6 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
7 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
8 growth delay 58 31 frequent (33%) Frequent (79-30%) HP:0001510
9 abdominal distention 58 31 frequent (33%) Frequent (79-30%) HP:0003270
10 increased hepatocellular lipid droplets 58 31 frequent (33%) Frequent (79-30%) HP:0006565
11 abnormality of vitamin metabolism 58 31 frequent (33%) Frequent (79-30%) HP:0100508
12 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
13 hepatic steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001397
14 emg: myopathic abnormalities 58 31 occasional (7.5%) Occasional (29-5%) HP:0003458
15 areflexia 58 31 very rare (1%) Very rare (<4-1%) HP:0001284
16 acanthocytosis 58 31 very rare (1%) Very rare (<4-1%) HP:0001927
17 impaired proprioception 58 31 very rare (1%) Very rare (<4-1%) HP:0010831
18 intellectual disability 31 HP:0001249
19 myopathy 58 Very rare (<4-1%)
20 hypertriglyceridemia 58 Excluded (0%)
21 reduced tendon reflexes 31 HP:0001315
22 fat malabsorption 58 Very frequent (99-80%)
23 hypoalbuminemia 31 HP:0003073
24 decreased ldl cholesterol concentration 31 HP:0003563
25 hypotriglyceridemia 31 HP:0012153
26 impaired vibratory sensation 31 HP:0002495
27 malnutrition 31 HP:0004395

Symptoms via clinical synopsis from OMIM:

56
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
steatorrhea
fat malabsorption
malnutrition
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:


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

GenomeRNAi Phenotypes related to Chylomicron Retention Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.44 GCG SAR1A SLC10A2 SLC5A1
2 Decreased viability GR00381-A-1 9.44 PYY SLC5A1
3 Decreased viability GR00386-A-1 9.44 APOB GCG SEC13
4 Decreased viability GR00402-S-2 9.44 MIA2 PYY SEC13 SLC10A2

MGI Mouse Phenotypes related to Chylomicron Retention Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.77 APOA1 APOA4 APOB CFTR CUBN FABP1
2 liver/biliary system MP:0005370 9.17 APOA1 APOB CFTR FABP1 MTTP PNLIP

Drugs & Therapeutics for Chylomicron Retention Disease

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

(show top 50) (show all 100)
# 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 27284 23925
4
Colestipol Approved Phase 4 26658-42-4
5 Glucagon-Like Peptide 1 Phase 4
6 Laxatives Phase 4
7 Cathartics Phase 4
8 Gastrointestinal Agents Phase 4
9 Hormone Antagonists Phase 4
10 Hypoglycemic Agents Phase 4
11 Incretins Phase 4
12 Hematinics Phase 4
13 Dextrans Phase 4
14 Anticoagulants Phase 4
15 Iron Supplement Phase 4
16 Plasma Substitutes Phase 4
17 Blood Substitutes Phase 4
18 Iron-Dextran Complex Phase 4
19 Cholestyramine Resin Phase 4
20 Hypolipidemic Agents Phase 4
21 Lipid Regulating Agents Phase 4
22 Anticholesteremic Agents Phase 4
23 Colesevelam Hydrochloride Phase 4
24 Antimetabolites Phase 4
25 Bile Acids and Salts Phase 4
26
Levoleucovorin Approved, Investigational Phase 3 68538-85-2
27
Gemcitabine Approved Phase 3 95058-81-4 60750
28
leucovorin Approved Phase 3 58-05-9 6006 143
29
Fluorouracil Approved Phase 3 51-21-8 3385
30
Irinotecan Approved, Investigational Phase 3 97682-44-5, 100286-90-6 60838
31
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 43805 6857599 5310940 9887054
32
Pancrelipase Approved, Investigational Phase 3 53608-75-6
33
Propofol Approved, Investigational, Vet_approved Phase 3 2078-54-8 4943
34
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
35
tannic acid Approved Phase 3 1401-55-4
36
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
37
Clonidine Approved Phase 3 4205-90-7 2803
38
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
39 Anti-Infective Agents Phase 3
40 Antiviral Agents Phase 3
41 Immunosuppressive Agents Phase 3
42 Folate Phase 3
43 Vitamin B9 Phase 3
44 Pharmaceutical Solutions Phase 3
45 pancreatin Phase 3
46 Sodium Channel Blockers Phase 3
47 Anesthetics Phase 3
48 Anti-Arrhythmia Agents Phase 3
49 Diuretics, Potassium Sparing Phase 3
50 Anesthetics, Local Phase 3

Interventional clinical trials:

(show top 50) (show all 74)
# 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 Market Research - Acceptability Study for a Range of New MCT Based Products (Dr Schär - Kanso) Kanso DeliMCT 53% (Cream) Kanso DeliMCT 28% (Tomato or Mushroom) Kanso DeliMCT 21% (Cacaobar) Completed NCT04309214
35 A Study to Monitor the Use of an Amino Acid-Based Infant Formula Completed NCT02953223
36 Malabsorption as a Cause of Iron Treatment Failure in Infants - A Clinical Observational Study Completed NCT00456729 Metronidazole
37 Market Research - Acceptability Study for a Range of New MCT Based Products (Dr Schär - Kanso MCT) Kanso MCT 100% Oil Kanso MCT 77% Oil Kanso MCT 83% Margarine Completed NCT04309149
38 Detection of Celiac Disease in Patients With Hypothyroidism Completed NCT01862510
39 Validation of Carbohydrate Intolerance Questionnaire Completed NCT03138902
40 Mobile Technologies Assisting Patients & Family Caregivers in Healthy Living Completed NCT01900288
41 Evaluation du Niveau d'activité Physique Quotidien, Chez Des Patientes Porteuses d'un Cancer du Sein en période Post thérapeutique Completed NCT02013921
42 Plasma Citrulline as Quantitative Biomarker of HIV Associate Villous Atrophy in a Tropical Enteropathy Population Completed NCT00816842
43 Validation of Breath Tests in Diagnosing Small Bowel Bacterial Overgrowth Completed NCT00872092
44 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
45 Efficacy of Fructose Metabolizing Enzymatic Product Fructosin(R) in Patients With Fructose Malabsorption Completed NCT00916487
46 Effect of UGIR on Quality of Life in Adults With Compromised Gut Function and Malabsorption Completed NCT03011593
47 Pilot Clinical Trial to Evaluate the Pharmacokinetics of Orally Administered 25-hydroxyvitamin D3 and Vitamin D3 in Healthy Adults and Adults With a History of Intestinal Malabsorption Completed NCT03401541 Early Phase 1 Calcifediol;Calciferol
48 Vitamin D Substitution for Patients With Chronic Pancreatitis and Malabsorption Completed NCT01141998 Calcium, Dietary;Cholecalciferol;Cholecalciferol
49 Belgian Screening Project for the Detection of Anderson-Fabry Disease in Hypertrophic Cardiomyopathy Completed NCT01198899
50 Obesity, Iron Regulation and Colorectal Cancer Risk Completed NCT03548948

Search NIH Clinical Center for Chylomicron Retention Disease

Cochrane evidence based reviews: malabsorption syndromes

Genetic Tests for Chylomicron Retention Disease

Genetic tests related to Chylomicron Retention Disease:

# Genetic test Affiliating Genes
1 Chylomicron Retention Disease 29 SAR1B

Anatomical Context for Chylomicron Retention Disease

MalaCards organs/tissues related to Chylomicron Retention Disease:

40
Liver, Bone, Heart, Testes, Brain, Lung, Eye

Publications for Chylomicron Retention Disease

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. 6 56 61
10665502 2000
2
SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases. 56 6
17309654 2007
3
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. 56 6
12692552 2003
4
Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities. 61 56
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. 6 61
17945526 2008
6
Intestinal apoB synthesis, lipids, and lipoproteins in chylomicron retention disease. 56 61
3430059 1987
7
Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B. Chylomicron retention disease. 61 56
3792776 1987
8
ER-to-Golgi transport: COP I and COP II function (Review). 56
12893528 2003
9
Anderson's disease: exclusion of apolipoprotein and intracellular lipid transport genes. 56
10521380 1999
10
Studies on lipoprotein metabolism in a family with jejunal chylomicron retention. 56
7601203 1995
11
Anderson's disease: no linkage to the apo B locus. 56
8492252 1993
12
Anderson's disease: genetic exclusion of the apolipoprotein-B gene in two families. 56
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. 56
2426307 1986
14
Using genetically engineered mice to understand apolipoprotein-B deficiency syndromes in humans. 61 54
9824535 1998
15
Chylomicron Retention Disease in A Male Infant: A Rare Case from Pakistan. 61
32257723 2020
16
Novel mutations of SAR1B gene in four children with chylomicron retention disease. 61
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. 61
30782561 2019
18
Chylomicron retention disease: genetics, biochemistry, and clinical spectrum. 61
30640893 2019
19
Breathing Out Completely Before Inhalation: The Most Problematic Step in Application Technique in Patients With Non-Mild Chronic Obstructive Pulmonary Disease. 61
30914956 2019
20
Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease. 61
30021760 2018
21
Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease. 61
29713611 2018
22
Complex genetic architecture in severe hypobetalipoproteinemia. 61
29540175 2018
23
Understanding Chylomicron Retention Disease Through Sar1b Gtpase Gene Disruption: Insight From Cell Culture. 61
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. 61
27520363 2016
25
Design and rationale of the STRIVE trial to improve cardiometabolic health among children and families. 61
27417980 2016
26
Chylomicron retention disease: A rare cause of chronic diarrhea. 61
27266643 2016
27
Update on the molecular biology of dyslipidemias. 61
26546829 2016
28
Complex multireference configuration interaction calculations for the K-vacancy Auger states of N(q+) (q = 2-5) ions. 61
26851920 2016
29
Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B. 61
26612772 2016
30
Animal model of Sar1b deficiency presents lipid absorption deficits similar to Anderson disease. 61
25559265 2015
31
Studying lipoprotein trafficking in zebrafish, the case of chylomicron retention disease. 61
25572701 2015
32
Sar1b transgenic male mice are more susceptible to high-fat diet-induced obesity, insulin insensitivity and intestinal chylomicron overproduction. 61
24657056 2014
33
An infant with vomiting, diarrhea, and failure to thrive. Chylomicron retention disease. 61
24560855 2014
34
Tissue distribution and regulation of the small Sar1b GTPase in mice. 61
24969168 2014
35
Quantification of age-related and per diopter accommodative changes of the lens and ciliary muscle in the emmetropic human eye. 61
23287789 2013
36
Trans-Golgi proteins participate in the control of lipid droplet and chylomicron formation. 61
23033902 2013
37
Chylomicron retention disease. 61
22959141 2013
38
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. 61
23043934 2013
39
Role of the gut in lipid homeostasis. 61
22811425 2012
40
Low rate of production of apolipoproteins B100 and AI in 2 patients with Anderson disease (chylomicron retention disease). 61
22441101 2012
41
Ubiquitin-dependent regulation of COPII coat size and function. 61
22358839 2012
42
Chylomicron retention disease: report of two cases from a Greek Island. 61
23329770 2012
43
Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence. 61
22104167 2011
44
[Acupuncture resources in Cochrane Library]. 61
21823303 2011
45
Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease). 61
21235735 2011
46
Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum. 61
21874758 2011
47
[Primary and secondary hypocholesterolemia]. 61
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. 61
20920215 2010
49
Chylomicron retention disease: dystonia as a new clinical feature. 61
20589877 2010
50
CFTR depletion results in changes in fatty acid composition and promotes lipogenesis in intestinal Caco 2/15 cells. 54
20463919 2010

Variations for Chylomicron Retention Disease

ClinVar genetic disease variations for Chylomicron Retention Disease:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SAR1B NM_016103.4(SAR1B):c.75_76del (p.Thr25_Gly26insTer)deletion Pathogenic 2924 5:133956725-133956726 5:134621035-134621036
2 SAR1B NM_016103.4(SAR1B):c.537T>A (p.Ser179Arg)SNV Pathogenic 2925 rs28942110 5:133942700-133942700 5:134607010-134607010
3 SAR1B NM_016103.4(SAR1B):c.555_558dup (p.Gly187fs)duplication Pathogenic 2926 5:133942678-133942679 5:134606988-134606989
4 SAR1B NM_016103.4(SAR1B):c.349-1G>CSNV Pathogenic 2927 5:133944194-133944194 5:134608504-134608504
5 SAR1B NM_016103.4(SAR1B):c.364G>T (p.Glu122Ter)SNV Pathogenic 2928 rs137853125 5:133944178-133944178 5:134608488-134608488
6 SAR1B NM_016103.4(SAR1B):c.554G>T (p.Gly185Val)SNV Pathogenic 2929 rs137853126 5:133942683-133942683 5:134606993-134606993
7 SAR1B NM_016103.4(SAR1B):c.109G>A (p.Gly37Arg)SNV Pathogenic 2922 rs121917846 5:133956692-133956692 5:134621002-134621002
8 SAR1B NM_016103.4(SAR1B):c.409G>A (p.Asp137Asn)SNV Pathogenic/Likely pathogenic 2923 rs28942109 5:133944133-133944133 5:134608443-134608443
9 SAR1B NM_016103.4(SAR1B):c.280A>C (p.Asn94His)SNV Uncertain significance 522346 rs755835349 5:133945329-133945329 5:134609639-134609639

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

73
# 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

Expression for Chylomicron Retention Disease

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

Pathways for Chylomicron Retention Disease

Pathways related to Chylomicron Retention Disease according to KEGG:

36
# 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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 SLC5A1 SLC10A2 SEC24C SEC24B SAR1B PNLIP
2
Show member pathways
13.64 SEC24C SEC24B SEC13 SAR1B MIA2 GCG
3
Show member pathways
13.22 SEC24C SEC24B SEC13 SAR1B MIA2 CFTR
4
Show member pathways
12.54 PNLIP CUBN APOB APOA4 APOA1
5
Show member pathways
12.29 SAR1B PNLIP MTTP FABP1 CUBN APOB
6
Show member pathways
12.27 SEC24C SEC24B SEC13 SAR1B SAR1A CFTR
7
Show member pathways
12.21 PNLIP CUBN APOB APOA4 APOA1
8 12.05 SEC24C SEC24B SEC13 SAR1B SAR1A
9
Show member pathways
11.9 MTTP APOB APOA4 APOA1
10 11.86 CFTR APOA4 APOA1
11 11.81 SEC24C SEC24B SEC13 SAR1B
12
Show member pathways
11.73 SEC24C SEC24B SAR1B
13 11.68 SLC5A1 SLC10A2 CFTR
14 11.52 SEC24C SEC24B SEC13 SAR1B SAR1A
15 11.02 SEC24C SEC24B SEC13 SAR1B
16 10.91 CFTR APOA4 APOA1
17
Show member pathways
10.76 PNLIP MTTP FABP1 APOB APOA4 APOA1
18 10.73 PNLIP CUBN APOB APOA4 APOA1

GO Terms for Chylomicron Retention Disease

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 10.04 SEC24C SEC24B SEC13 SAR1B MIA2 CFTR
2 endoplasmic reticulum GO:0005783 9.9 SEC24C SEC24B SEC13 SAR1B SAR1A MTTP
3 apical plasma membrane GO:0016324 9.88 SLC5A1 SLC10A2 LCT CUBN CFTR
4 endoplasmic reticulum lumen GO:0005788 9.85 MTTP GCG APOB APOA4 APOA1
5 early endosome GO:0005769 9.83 SLC5A1 CFTR APOB APOA4 APOA1
6 brush border membrane GO:0031526 9.7 SLC5A1 MTTP CUBN
7 high-density lipoprotein particle GO:0034364 9.58 APOB APOA4 APOA1
8 ER to Golgi transport vesicle membrane GO:0012507 9.56 SEC24C SEC24B SEC13 SAR1B
9 endocytic vesicle lumen GO:0071682 9.55 APOB APOA1
10 low-density lipoprotein particle GO:0034362 9.54 APOB APOA1
11 very-low-density lipoprotein particle GO:0034361 9.54 APOB APOA4 APOA1
12 intermediate-density lipoprotein particle GO:0034363 9.51 APOB APOA1
13 chylomicron GO:0042627 9.5 APOB APOA4 APOA1
14 COPII vesicle coat GO:0030127 9.35 SEC24C SEC24B SEC13 SAR1B SAR1A
15 endoplasmic reticulum exit site GO:0070971 9.1 SEC24C SEC24B SAR1B SAR1A MIA2 APOB

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

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.09 SEC24C SEC24B SEC13 SAR1B SAR1A CUBN
2 lipid metabolic process GO:0006629 10.07 PNLIP MTTP CUBN APOB APOA1
3 intracellular protein transport GO:0006886 10 SEC24C SEC24B SEC13 SAR1B SAR1A
4 vesicle-mediated transport GO:0016192 9.96 SEC24C SEC24B SEC13 SAR1B SAR1A
5 lipid transport GO:0006869 9.88 MTTP APOB APOA4 APOA1
6 membrane organization GO:0061024 9.88 SAR1B SAR1A CFTR APOB
7 ER to Golgi vesicle-mediated transport GO:0006888 9.88 SEC24C SEC24B SAR1B SAR1A MIA2
8 steroid metabolic process GO:0008202 9.87 CUBN APOB APOA1
9 lipid catabolic process GO:0016042 9.87 PNLIP APOB APOA4
10 cholesterol homeostasis GO:0042632 9.85 MTTP APOB APOA4 APOA1
11 cholesterol metabolic process GO:0008203 9.84 CUBN APOB APOA4 APOA1
12 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.81 SEC24C SEC24B SEC13 SAR1B
13 cholesterol biosynthetic process GO:0006695 9.77 CFTR APOA4 APOA1
14 COPII vesicle coating GO:0048208 9.73 SEC24C SEC24B SEC13 SAR1B
15 retinoid metabolic process GO:0001523 9.71 PNLIP APOB APOA4 APOA1
16 cholesterol transport GO:0030301 9.7 CFTR APOB APOA1
17 reverse cholesterol transport GO:0043691 9.69 APOA4 APOA1
18 high-density lipoprotein particle remodeling GO:0034375 9.68 APOA4 APOA1
19 positive regulation of lipid biosynthetic process GO:0046889 9.68 APOA4 APOA1
20 phosphatidylcholine metabolic process GO:0046470 9.68 APOA4 APOA1
21 positive regulation of fatty acid biosynthetic process GO:0045723 9.68 APOA4 APOA1
22 vesicle organization GO:0016050 9.67 SAR1B SAR1A
23 high-density lipoprotein particle assembly GO:0034380 9.67 APOA4 APOA1
24 cholesterol efflux GO:0033344 9.67 APOB APOA4 APOA1
25 positive regulation of protein exit from endoplasmic reticulum GO:0070863 9.66 SAR1B SAR1A
26 positive regulation of lipoprotein lipase activity GO:0051006 9.66 APOA4 APOA1
27 very-low-density lipoprotein particle assembly GO:0034379 9.65 MTTP APOB
28 phospholipid efflux GO:0033700 9.65 APOA4 APOA1
29 high-density lipoprotein particle clearance GO:0034384 9.65 CUBN APOA1
30 very-low-density lipoprotein particle remodeling GO:0034372 9.64 APOA4 APOA1
31 positive regulation of triglyceride catabolic process GO:0010898 9.64 APOA4 APOA1
32 positive regulation of cholesterol esterification GO:0010873 9.63 APOA4 APOA1
33 lipoprotein biosynthetic process GO:0042158 9.63 APOB APOA1
34 lipoprotein transport GO:0042953 9.63 MTTP CUBN APOB
35 positive regulation of hydrolase activity GO:0051345 9.62 FABP1 APOA1
36 regulation of intestinal cholesterol absorption GO:0030300 9.62 APOA4 APOA1
37 intermembrane lipid transfer GO:0120009 9.62 MTTP APOB APOA4 APOA1
38 regulation of COPII vesicle coating GO:0003400 9.6 SAR1B SAR1A
39 transepithelial water transport GO:0035377 9.57 SLC5A1 CFTR
40 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.56 SEC24C SEC24B SEC13 SAR1B
41 chylomicron remodeling GO:0034371 9.54 APOB APOA4 APOA1
42 lipoprotein metabolic process GO:0042157 9.46 MTTP APOB APOA4 APOA1
43 cargo loading into COPII-coated vesicle GO:0090110 9.26 SEC24C SEC24B SEC13 SAR1A
44 chylomicron assembly GO:0034378 8.92 MTTP APOB APOA4 APOA1

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

# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.62 MTTP FABP1 APOA4 APOA1
2 phospholipid binding GO:0005543 9.46 FABP1 APOB APOA4 APOA1
3 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.26 APOA4 APOA1
4 intermembrane cholesterol transfer activity GO:0120020 9.13 APOB APOA4 APOA1
5 lipid transporter activity GO:0005319 8.92 MTTP APOB APOA4 APOA1

Sources for Chylomicron Retention Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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