CMRD
MCID: CHY002
MIFTS: 62

Chylomicron Retention Disease (CMRD)

Categories: Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Chylomicron Retention Disease

MalaCards integrated aliases for Chylomicron Retention Disease:

Name: Chylomicron Retention Disease 57 11 24 19 42 58 73 28 12 53 5 43 14 38 71 75
Anderson Disease 57 11 24 42 58 73
Cmrd 57 11 19 42 58 73
Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein in Intestinal Cells 57 19 42 73
Lipid Transport Defect of Intestine 57 19 42 73
Andd 57 73
Malabsorption Syndrome 71
Anderson Syndrome 42
Andersons Disease 53
Crd 58

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Childhood,Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy


Classifications:

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


Summaries for Chylomicron Retention Disease

MedlinePlus Genetics: 42 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).

MalaCards based summary: Chylomicron Retention Disease, also known as anderson disease, is related to hypolipoproteinemia and hypobetalipoproteinemia, familial, 2, 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 Metabolism and Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs Lidocaine and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and bone, and related phenotypes are hypocholesterolemia and diarrhea

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

GARD: 19 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.

Orphanet: 58 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.

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) (Updated 08-Dec-2022)

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

GeneReviews: NBK578949

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 158)
# Related Disease Score Top Affiliating Genes
1 hypolipoproteinemia 32.4 SAR1B MTTP APOB
2 hypobetalipoproteinemia, familial, 2 32.4 SAR1B MTTP APOB
3 abetalipoproteinemia 31.2 SAR1B MTTP APOB
4 hypobetalipoproteinemia, familial, 1 31.1 SAR1B MTTP APOB
5 non-alcoholic fatty liver disease 30.5 MTTP GCG FABP1 APOB
6 diarrhea 30.4 TGM2 SLC5A1 SLC10A2 PYY LCT CFTR
7 celiac disease 1 30.2 TGM2 PYY LCT GCG
8 irritable bowel syndrome 30.0 TGM2 PYY LCT GCG
9 cone-rod dystrophy 2 11.4
10 partington-anderson syndrome 11.2
11 cortisone reductase deficiency 1 11.2
12 spondylometaphyseal dysplasia with cone-rod dystrophy 11.2
13 goiter, multinodular, cystic renal disease, and digital anomalies 11.1
14 refsum disease, classic 11.0
15 hyperlipoproteinemia, type iv 10.3 SLC10A2 APOB
16 hyperlipoproteinemia, type i 10.3 PNLIP MTTP APOB
17 arcus corneae 10.3 MTTP APOB
18 pancreatic colloid cystadenoma 10.3 SLC5A2 SLC5A1
19 silent myocardial infarction 10.3 SLC5A2 APOB
20 hypoalphalipoproteinemia, primary, 2 10.3
21 balanoposthitis 10.2 SLC5A2 SLC5A1
22 osteogenesis imperfecta, type xix 10.2 SEC24B MIA2
23 osmotic diarrhea 10.2 SLC5A1 LCT
24 bronchiectasis 3 10.2 LCT CFTR
25 cone-rod dystrophy 1 10.2
26 familial lipoprotein lipase deficiency 10.2 PNLIP APOB
27 fanconi-like syndrome 10.2 SLC5A2 SLC5A1 CUBN
28 abdominal obesity-metabolic syndrome 1 10.2 MTTP GCG APOB
29 non-alcoholic steatohepatitis 10.2 MTTP GCG APOB
30 postgastrectomy syndrome 10.2 PYY GCG
31 alcoholic ketoacidosis 10.2 SLC5A2 GCG
32 gluten allergy 10.2 TGM2 LCT
33 aspirin allergy 10.2 TGM2 GCG
34 maturity-onset diabetes of the young, type 3 10.2 MIA2 GCG FABP1
35 respiratory failure 10.2
36 meckel diverticulum 10.2 SLC5A1 GCG
37 lactose intolerance 10.2 TGM2 SLC5A1 LCT
38 ataxia with vitamin e deficiency 10.2
39 lymphocytic colitis 10.2 TGM2 PYY
40 vulvovaginitis 10.2 SLC5A2 SLC5A1 GCG
41 renal glucosuria 10.2 SLC5A2 SLC5A1 GCG
42 diabetes mellitus, ketosis-prone 10.2 SLC5A2 SLC5A1 GCG
43 lactase deficiency, congenital 10.2 SLC5A1 LCT
44 urinary tract infection 10.1 SLC5A2 SLC5A1 GCG
45 anemia, congenital dyserythropoietic, type ii 10.1 SEC24B SEC13 SAR1B MIA2
46 volvulus of midgut 10.1 PYY GCG
47 chronic kidney disease 10.1
48 chronic bilirubin encephalopathy 10.1
49 fatty liver disease 10.1 MTTP GCG FABP1 APOB
50 sucrase-isomaltase deficiency, congenital 10.1 SLC5A1 LCT

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

UMLS symptoms related to Chylomicron Retention Disease:


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

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.19 APOB CFTR CUBN DCDC2 FABP1 GCG
2 no effect GR00402-S-2 10.19 APOB CFTR CUBN DCDC2 FABP1 GCG

MGI Mouse Phenotypes related to Chylomicron Retention Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 APOB CFTR CUBN FABP1 GCG MIA2
2 liver/biliary system MP:0005370 9.86 APOB CFTR FABP1 MIA2 MTTP PNLIP
3 growth/size/body region MP:0005378 9.8 APOB CFTR CUBN GCG MIA2 MTTP
4 digestive/alimentary MP:0005381 9.17 CFTR GCG PNLIP SAR1B SLC10A2 SLC5A1

Drugs & Therapeutics for Chylomicron Retention Disease

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
2
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
3
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
4
Propofol Approved, Investigational, Vet_approved Phase 3 2078-54-8 4943
5 Anti-Arrhythmia Agents Phase 3
6 Sodium Channel Blockers Phase 3
7 Anesthetics, Local Phase 3
8 Anesthetics Phase 3
9 Diuretics, Potassium Sparing Phase 3
10 Bile Acids and Salts Phase 2
11 Pharmaceutical Solutions Phase 2
12
Ascorbic acid Approved, Nutraceutical 50-81-7 54676860 54670067 5785
13
Lutein Approved, Investigational, Nutraceutical 127-40-2 5281243
14 Vitamins
15 Carotenoids
16 Antioxidants
17 Superoxide Dismutase
18 Protective Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of Topical Lidocaine Spray as Adjuvant to Upper Gastrointestinal Endoscopy in Children and Teenagers Completed NCT00521703 Phase 3 Lidocaine;Tannic acid
2 A Randomized, Double-Blind, Placebo Controlled Trial of Aldafermin (NGM282) for Treatment of Chronic Diarrhea Due to Bile Acid Malabsorption (BAM) Recruiting NCT05130047 Phase 2 Aldafermin;Placebo
3 Improved Quality of Life in Children With Intestinal Failure - a Randomised Intervention Trial Recruiting NCT04981262
4 Characterization of the Density of Macular Pigment in Patients With Primary Intestinal Hypocholesterolemia and Its Relation to Their Carotenoid and Anti-oxidant Status. Not yet recruiting NCT05208879
5 Intestinal Ultrasound Versus Double Balloon Enteroscopy (DBE) in Diagnosis of Malabsorption Syndrome Not yet recruiting NCT04777682

Search NIH Clinical Center for Chylomicron Retention Disease

Cochrane evidence based reviews: chylomicron retention disease

Genetic Tests for Chylomicron Retention Disease

Genetic tests related to Chylomicron Retention Disease:

# Genetic test Affiliating Genes
1 Chylomicron Retention Disease 28 SAR1B

Anatomical Context for Chylomicron Retention Disease

Organs/tissues related to Chylomicron Retention Disease:

MalaCards : Liver, Heart, Bone, Prostate, Colon, Myeloid, Eye

Publications for Chylomicron Retention Disease

Articles related to Chylomicron Retention Disease:

(show top 50) (show all 273)
# Title Authors PMID Year
1
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. 24 57 5
12692552 2003
2
Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome. 62 57 5
10665502 2000
3
Chylomicron retention disease: a long term study of two cohorts. 62 24 5
19285442 2009
4
Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities. 62 24 57
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. 62 24 5
17945526 2008
6
SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases. 57 5
17309654 2007
7
Intestinal apoB synthesis, lipids, and lipoproteins in chylomicron retention disease. 62 57
3430059 1987
8
Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B. Chylomicron retention disease. 62 57
3792776 1987
9
Lipids Responsible for Intestinal or Hepatic Disorder: When to Suspect a Familial Intestinal Hypocholesterolemia? 62 24
33853111 2021
10
Chylomicron retention disease: genetics, biochemistry, and clinical spectrum. 62 24
30640893 2019
11
Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. 5
27469900 2016
12
Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers. 62 24
20920215 2010
13
ER-to-Golgi transport: COP I and COP II function (Review). 57
12893528 2003
14
Anderson's disease: exclusion of apolipoprotein and intracellular lipid transport genes. 57
10521380 1999
15
Studies on lipoprotein metabolism in a family with jejunal chylomicron retention. 57
7601203 1995
16
Anderson's disease: no linkage to the apo B locus. 57
8492252 1993
17
Anderson's disease: genetic exclusion of the apolipoprotein-B gene in two families. 57
1985110 1991
18
Hypobetalipoproteinemia with accumulation of an apoprotein B-like protein in intestinal cells. Immunoenzymatic and biochemical characterization of seven cases of Anderson's disease. 57
2426307 1986
19
From Congenital Disorders of Fat Malabsorption to Understanding Intra-Enterocyte Mechanisms Behind Chylomicron Assembly and Secretion. 24
33584351 2021
20
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
21
Using genetically engineered mice to understand apolipoprotein-B deficiency syndromes in humans. 53 62
9824535 1998
22
Guidance for the diagnosis and treatment of hypolipidemia disorders. 62
36243606 2022
23
Size-specific dose estimates for pediatric head CT protocols based on the AAPM report TG-293. 62
35717776 2022
24
[Cardiac imaging in infiltrative cardiomyopathies. What cardiovascular imaging modalities to propose in hypertrophic cardiomyopathies ?] 62
35184821 2022
25
Gilteritinib clinical activity in relapsed/refractory FLT3 mutated acute myeloid leukemia previously treated with FLT3 inhibitors. 62
34981560 2022
26
Chylomicron Retention Disease 62
35344313 2022
27
Investigation of hydrogen peroxide-acetic acid pretreatment to enhance the enzymatic digestibility of bamboo residues. 62
34678451 2022
28
Self-Reported Overall Adherence and Correct Inhalation Technique Discordance in Chronic Obstructive Pulmonary Disease Population. 62
36034870 2022
29
Puff-Resolved Analysis and Selected Quantification of Chemicals in the Gas Phase of E-Cigarettes, Heat-Not-Burn Devices, and Conventional Cigarettes Using Single-Photon Ionization Time-of-Flight Mass Spectrometry (SPI-TOFMS): A Comparative Study. 62
33993304 2021
30
Chylomicron retention disease caused by a new pathogenic variant in sar1b protein: a rare case report from Syria. 62
34629076 2021
31
Patient-specific microdosimetry: a proof of concept. 62
34384070 2021
32
Coexistence ofs- andd-wave gaps due to pair-hopping and exchange interactions. 62
34233300 2021
33
Introducing a new prognostic instrument for long-term mortality prediction in COPD patients: the CADOT index. 62
32955038 2021
34
A Case of Hypokalemic Periodic Paralysis in a Young Athlete. 62
34188982 2021
35
[Factors Predicting Difficulty of Morcellation during Holmium Laser Enucleation of the Prostate]. 62
33957029 2021
36
The Relation Between Clinical Phenotypes, GOLD Groups/Stages and Mortality in COPD Patients - A Prospective Multicenter Study. 62
33953554 2021
37
Sar1b mutant mice recapitulate gastrointestinal abnormalities associated with chylomicron retention disease. 62
33964306 2021
38
Inhibition of Sar1b, the Gene Implicated in Chylomicron Retention Disease, Impairs Migration and Morphogenesis of Developing Cortical Neurons. 62
33002559 2020
39
Impact of an axial non-confocal antenna on the on-orbit lasercom receiver analyzed by the simplified combination method of ray tracing and diffraction theory. 62
32672160 2020
40
Chylomicron Retention Disease in A Male Infant: A Rare Case from Pakistan. 62
32257723 2020
41
Unusual Clinical Presentation of Periodic Paralysis: Case Report and Literature Review. 62
32274285 2020
42
Novel mutations of SAR1B gene in four children with chylomicron retention disease. 62
31253576 2019
43
Identification of SNPs and copy number variations in mitochondrial genes related to the reproductive capacity of the cultured Asian yellow pond turtle (Mauremys mutica). 62
31036307 2019
44
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. 62
30782561 2019
45
Breathing Out Completely Before Inhalation: The Most Problematic Step in Application Technique in Patients With Non-Mild Chronic Obstructive Pulmonary Disease. 62
30914956 2019
46
[A Case of Gallbladder Jejunal Anastomosis and Duodenal Jejunal Anastomosis to Maintain QOL for an Elderly Patient with Pancreatic Cancer]. 62
30692364 2018
47
[Evaluation of Eligibility Criteria for Elderly Patients of Pancreaticoduodenectomy]. 62
30692416 2018
48
Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease. 62
30021760 2018
49
Antibody Epitope of Human α-Galactosidase A Revealed by Affinity Mass Spectrometry: A Basis for Reversing Immunoreactivity in Enzyme Replacement Therapy of Fabry Disease. 62
29473701 2018
50
Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease. 62
29713611 2018

Variations for Chylomicron Retention Disease

ClinVar genetic disease variations for Chylomicron Retention Disease:

5 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SAR1B NM_016103.4(SAR1B):c.109G>A (p.Gly37Arg) SNV Pathogenic
2922 rs121917846 GRCh37: 5:133956692-133956692
GRCh38: 5:134621002-134621002
2 SAR1B NM_016103.4(SAR1B):c.75_76del (p.Thr25_Gly26insTer) DEL Pathogenic
2924 rs1580653772 GRCh37: 5:133956725-133956726
GRCh38: 5:134621035-134621036
3 SAR1B NM_016103.4(SAR1B):c.555_558dup (p.Gly187fs) DUP Pathogenic
2926 rs1580645070 GRCh37: 5:133942678-133942679
GRCh38: 5:134606988-134606989
4 SAR1B NM_016103.4(SAR1B):c.349-1G>C SNV Pathogenic
2927 rs1580645999 GRCh37: 5:133944194-133944194
GRCh38: 5:134608504-134608504
5 SAR1B NM_016103.4(SAR1B):c.364G>T (p.Glu122Ter) SNV Pathogenic
2928 rs137853125 GRCh37: 5:133944178-133944178
GRCh38: 5:134608488-134608488
6 DCDC2 NM_016356.5(DCDC2):c.346G>T (p.Glu116Ter) SNV Pathogenic
1162261 GRCh37: 6:24353799-24353799
GRCh38: 6:24353571-24353571
7 SAR1B NM_016103.4(SAR1B):c.537T>A (p.Ser179Arg) SNV Pathogenic
2925 rs28942110 GRCh37: 5:133942700-133942700
GRCh38: 5:134607010-134607010
8 SAR1B NM_016103.4(SAR1B):c.554G>T (p.Gly185Val) SNV Pathogenic
2929 rs137853126 GRCh37: 5:133942683-133942683
GRCh38: 5:134606993-134606993
9 SAR1B NM_016103.4(SAR1B):c.409G>A (p.Asp137Asn) SNV Likely Pathogenic
2923 rs28942109 GRCh37: 5:133944133-133944133
GRCh38: 5:134608443-134608443
10 SAR1B NM_016103.4(SAR1B):c.247C>T (p.Arg83Ter) SNV Likely Pathogenic
1325033 GRCh37: 5:133945362-133945362
GRCh38: 5:134609672-134609672
11 SAR1B NM_016103.4(SAR1B):c.280A>C (p.Asn94His) SNV Uncertain Significance
522346 rs755835349 GRCh37: 5:133945329-133945329
GRCh38: 5:134609639-134609639
12 SAR1B NM_016103.4(SAR1B):c.133C>T (p.Leu45=) SNV Benign
1170812 GRCh37: 5:133956668-133956668
GRCh38: 5:134620978-134620978

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 rs1254114609

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 GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 SLC10A2 SEC24B SEC13 SAR1B PNLIP GCG
2
Show member pathways
13.08 APOB CFTR CUBN MTTP SAR1B SLC5A1
3
Show member pathways
13.03 SEC24B SEC13 SAR1B PREB MIA2 CFTR
4
Show member pathways
12.82 SEC24B SEC13 SAR1B PREB MIA2
5 12.3 SLC5A2 SLC5A1 GCG FABP1
6
Show member pathways
12.25 SAR1B MTTP CUBN APOB
7
Show member pathways
12.2 SLC5A2 SLC5A1 SEC13 CFTR
8
Show member pathways
12.19 SLC10A2 SEC24B SEC13 SAR1B SAR1A CUBN
9
Show member pathways
11.86 SEC24B SEC13 SAR1B SAR1A PREB CFTR
10
Show member pathways
11.51 SLC5A1 PNLIP LCT
11
Show member pathways
11.03 SEC24B SEC13 SAR1B PREB MIA2
12
Show member pathways
10.9 SLC5A2 SLC5A1
13 10.9 SEC24B SEC13 SAR1B
14 10.83 MTTP APOB
15 10.1 PYY GCG

GO Terms for Chylomicron Retention Disease

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 10.03 APOB CFTR CUBN MIA2 MTTP PREB
2 apical plasma membrane GO:0016324 10 SLC5A2 SLC5A1 SLC10A2 LCT CUBN CFTR
3 brush border membrane GO:0031526 9.85 SLC5A1 MTTP CUBN
4 ER to Golgi transport vesicle membrane GO:0012507 9.8 SEC24B SEC13 SAR1B
5 COPII vesicle coat GO:0030127 9.56 SEC24B SEC13 SAR1B SAR1A
6 endoplasmic reticulum exit site GO:0070971 9.4 SEC24B SAR1B SAR1A PREB MIA2 APOB

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 establishment of localization in cell GO:0051649 10.08 MTTP CUBN CFTR APOB
2 protein secretion GO:0009306 10 PREB MTTP MIA2
3 protein transport GO:0015031 9.99 SEC24B SEC13 SAR1B SAR1A PREB CUBN
4 endoplasmic reticulum to Golgi vesicle-mediated transport GO:0006888 9.96 MIA2 PREB SAR1A SAR1B SEC24B
5 very-low-density lipoprotein particle assembly GO:0034379 9.85 MTTP APOB
6 vesicle-mediated transport GO:0016192 9.85 SEC24B SEC13 SAR1B SAR1A PREB
7 positive regulation of protein exit from endoplasmic reticulum GO:0070863 9.84 SAR1B SAR1A
8 glucose import across plasma membrane GO:0098708 9.8 SLC5A1 SLC5A2
9 COPII-coated vesicle cargo loading GO:0090110 9.8 SEC24B SEC13 SAR1A
10 transepithelial water transport GO:0035377 9.73 CFTR SLC5A1
11 renal glucose absorption GO:0035623 9.71 SLC5A1 SLC5A2
12 alpha-glucoside transport GO:0000017 9.67 SLC5A2 SLC5A1
13 protein exit from endoplasmic reticulum GO:0032527 9.55 SEC13 PREB MIA2
14 regulation of COPII vesicle coating GO:0003400 9.43 SAR1B SAR1A PREB
15 lipoprotein transport GO:0042953 9.23 SAR1B MTTP CUBN APOB

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

# Name GO ID Score Top Affiliating Genes
1 D-glucose transmembrane transporter activity GO:0055056 9.46 SLC5A2 SLC5A1
2 glucose:sodium symporter activity GO:0005412 9.26 SLC5A2 SLC5A1
3 alpha-glucoside transmembrane transporter activity GO:0015151 8.92 SLC5A2 SLC5A1

Sources for Chylomicron Retention Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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