CMRD
MCID: CHY002
MIFTS: 55

Chylomicron Retention Disease (CMRD)

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

Aliases & Classifications for Chylomicron Retention Disease

MalaCards integrated aliases for Chylomicron Retention Disease:

Name: Chylomicron Retention Disease 57 12 53 25 59 75 37 29 13 55 6 44 15 40 73
Cmrd 57 12 53 25 59 75
Anderson Disease 57 12 25 59 75
Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein in Intestinal Cells 57 53 25 75
Lipid Transport Defect of Intestine 57 53 25 75
Andd 57 75
Malabsorption Syndromes 44
Anderson Disease; Andd 57
Malabsorption Syndrome 73
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:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Chylomicron Retention Disease

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 71Disease definitionChylomicron 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. Affiliated tissues include bone, eye and lung, and related phenotypes are failure to thrive and visual impairment

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.

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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 114)
# Related Disease Score Top Affiliating Genes
1 hypobetalipoproteinemia, familial, 2 32.0 APOA1 APOB
2 hypolipoproteinemia 31.6 APOA1 APOB MTTP SAR1B
3 abetalipoproteinemia 30.0 APOA1 APOB MTTP SAR1B
4 steatorrhea 29.7 MTTP SLC10A2
5 inherited metabolic disorder 29.6 APOA1 APOB
6 methionine malabsorption syndrome 12.2
7 lysine malabsorption syndrome 12.2
8 cone-rod dystrophy 2 12.1
9 partington-anderson syndrome 12.1
10 cortisone reductase deficiency 1 11.3
11 cortisone reductase deficiency 2 11.3
12 spondylometaphyseal dysplasia with cone-rod dystrophy 11.2
13 neuroectodermal endocrine syndrome 11.0
14 goiter, multinodular, cystic renal disease, and digital anomalies 11.0
15 refsum disease, classic 11.0
16 daneman davy mancer syndrome 11.0
17 tropical sprue 11.0
18 bowenoid papulosis 10.2
19 diarrhea 10.2
20 homozygous familial hypercholesterolemia 10.1 MTTP APOB
21 leukodystrophy, hypomyelinating, 3 10.1 APOB APOA1
22 hyperlipoproteinemia, type v 10.1 APOB APOA1
23 hyperlipidemia, familial combined 10.1 APOB APOA1
24 dysbaric osteonecrosis 10.1 APOB APOA1
25 ischemic heart disease 10.1 APOB APOA1
26 fetal macrosomia 10.1 APOB APOA1
27 hypoalphalipoproteinemia, primary 10.1 APOB APOA1
28 vitamin e, familial isolated deficiency of 10.1 APOB APOA1
29 microphthalmia 10.1
30 hypertriglyceridemia, familial 10.1 APOA1 APOB
31 sitosterolemia 10.1 APOB MTTP
32 hyperlipoproteinemia, type iii 10.1 APOA1 APOB
33 arcus corneae 10.1 APOA1 APOB
34 hyperalphalipoproteinemia 1 10.1 APOA1 APOB
35 fatty liver disease, nonalcoholic 1 10.1 MTTP FABP1
36 coronary stenosis 10.1 APOA1 APOB
37 lecithin:cholesterol acyltransferase deficiency 10.1 APOA1 APOB
38 carotid artery disease 10.1 APOA1 APOB
39 tangier disease 10.0 APOA1 APOB
40 gallbladder disease 10.0 APOA1 APOB
41 hypobetalipoproteinemia, familial, 1 10.0 APOB MTTP SAR1B
42 peripheral vascular disease 10.0 APOA1 APOB
43 dystonia 10.0
44 tremor 10.0
45 vaginal cancer 10.0 SLC10A2 SAR1B
46 hyperlipoproteinemia, type iv 10.0 SLC10A2 APOB
47 familial hyperlipidemia 10.0 APOA1 APOB
48 lipid metabolism disorder 10.0 MTTP APOB APOA1
49 triiodothyronine receptor auxiliary protein 9.9
50 basal cell carcinoma 1 9.9

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

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
steatorrhea
fat malabsorption
malnutrition
severe diarrhea
more
Laboratory Abnormalities:
hypocholesterolemia
hypobetalipoproteinemia
deficiency of fat-soluble vitamins
normal serum triglycerides
absence of chylomicrons in lymph and plasma
more

Clinical features from OMIM:

246700

Human phenotypes related to Chylomicron Retention Disease:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
2 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
3 retinopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000488
4 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
5 growth delay 59 32 frequent (33%) Frequent (79-30%) HP:0001510
6 hepatic steatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001397
7 impaired proprioception 59 32 very rare (1%) Very rare (<4-1%) HP:0010831
8 areflexia 59 32 very rare (1%) Very rare (<4-1%) HP:0001284
9 diarrhea 59 32 obligate (100%) Obligate (100%) HP:0002014
10 abdominal distention 59 32 frequent (33%) Frequent (79-30%) HP:0003270
11 steatorrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002570
12 hypocholesterolemia 59 32 obligate (100%) Obligate (100%) HP:0003146
13 increased hepatocellular lipid droplets 59 32 frequent (33%) Frequent (79-30%) HP:0006565
14 abnormality of vitamin metabolism 59 32 frequent (33%) Frequent (79-30%) HP:0100508
15 acanthocytosis 59 32 very rare (1%) Very rare (<4-1%) HP:0001927
16 intellectual disability 32 HP:0001249
17 myopathy 59 Very rare (<4-1%)
18 abnormality of the eye 32 HP:0000478
19 hypertriglyceridemia 59 Excluded (0%)
20 elevated hepatic transaminases 59 Very frequent (99-80%)
21 reduced tendon reflexes 32 HP:0001315
22 emg: myopathic abnormalities 59 Occasional (29-5%)
23 abnormality of blood and blood-forming tissues 32 HP:0001871
24 impaired vibratory sensation 32 HP:0002495
25 hypoalbuminemia 32 HP:0003073
26 fat malabsorption 59 Very frequent (99-80%)
27 malnutrition 32 HP:0004395
28 elevated hepatic transaminase 32 hallmark (90%) HP:0002910
29 emg 32 occasional (7.5%) HP:0003458
30 decreased ldl cholesterol concentration 32 HP:0003563

UMLS symptoms related to Chylomicron Retention Disease:


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

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

Drugs & Therapeutics for Chylomicron Retention Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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

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:

41
Bone, Eye, Lung, Kidney, Liver, Heart

Publications for Chylomicron Retention Disease

Articles related to Chylomicron Retention Disease:

(show all 28)
# Title Authors Year
1
Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease. ( 29713611 )
2018
2
Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease. ( 30021760 )
2018
3
Understanding Chylomicron Retention Disease Through Sar1b Gtpase Gene Disruption: Insight From Cell Culture. ( 28982670 )
2017
4
Establishment of reference values of I+-tocopherol in plasma, red blood cells and adipose tissue in healthy children to improve the management of chylomicron retention disease, a rare genetic hypocholesterolemia. ( 27520363 )
2016
5
Chylomicron retention disease: A rare cause of chronic diarrhea. ( 27266643 )
2016
6
Studying lipoprotein trafficking in zebrafish, the case of chylomicron retention disease. ( 25572701 )
2015
7
An infant with vomiting, diarrhea, and failure to thrive. Chylomicron retention disease. ( 24560855 )
2014
8
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. ( 23043934 )
2013
9
Chylomicron retention disease. ( 22959141 )
2013
10
Low rate of production of apolipoproteins B100 and AI in 2 patients with Anderson disease (chylomicron retention disease). ( 22441101 )
2012
11
Chylomicron retention disease: report of two cases from a Greek Island. ( 23329770 )
2012
12
Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease). ( 21235735 )
2011
13
Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence. ( 22104167 )
2011
14
Chylomicron retention disease: dystonia as a new clinical feature. ( 20589877 )
2010
15
Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers. ( 20920215 )
2010
16
Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene. ( 19846172 )
2010
17
Chylomicron retention disease: a long term study of two cohorts. ( 19285442 )
2009
18
Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease. ( 19274794 )
2009
19
Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities. ( 18786134 )
2008
20
Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein. ( 17945526 )
2008
21
Chylomicron retention disease--the role of ultrastructural examination in differential diagnosis. ( 11770019 )
2001
22
Vitamin E deficiency due to chylomicron retention disease in Marinesco-SjAPgren syndrome. ( 10665502 )
2000
23
Chylomicron retention disease: exclusion of apolipoprotein B gene defects and detection of mRNA editing in an affected family. ( 7980720 )
1994
24
Chylomicron retention disease. ( 3335330 )
1988
25
Intestinal apoB synthesis, lipids, and lipoproteins in chylomicron retention disease. ( 3430059 )
1987
26
Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B. Chylomicron retention disease. ( 3792776 )
1987
27
Action tremor as a manifestation of chylomicron retention disease. ( 6651243 )
1983
28
Anemia of premature infant: the glucose-6-phosphate dehydrogenase activity in erythrocytes of cmrd blood from premature and full-term infants. ( 13918876 )
1962

Variations for Chylomicron Retention Disease

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

75
# 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

ClinVar genetic disease variations for Chylomicron Retention Disease:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 SAR1B SAR1B, 349, G-C, -1 single nucleotide variant Pathogenic
2 SAR1B SAR1B, 4-BP DUP, 555TTAC duplication Pathogenic
3 SAR1B NM_001033503.2(SAR1B): c.109G> A (p.Gly37Arg) single nucleotide variant Pathogenic rs121917846 GRCh37 Chromosome 5, 133956692: 133956692
4 SAR1B NM_001033503.2(SAR1B): c.109G> A (p.Gly37Arg) single nucleotide variant Pathogenic rs121917846 GRCh38 Chromosome 5, 134621002: 134621002
5 SAR1B NM_001033503.2(SAR1B): c.409G> A (p.Asp137Asn) single nucleotide variant Pathogenic/Likely pathogenic rs28942109 GRCh37 Chromosome 5, 133944133: 133944133
6 SAR1B NM_001033503.2(SAR1B): c.409G> A (p.Asp137Asn) single nucleotide variant Pathogenic/Likely pathogenic rs28942109 GRCh38 Chromosome 5, 134608443: 134608443
7 SAR1B SAR1B, 2-BP DEL, 75TG deletion Pathogenic
8 SAR1B NM_001033503.2(SAR1B): c.537T> A (p.Ser179Arg) single nucleotide variant Pathogenic rs28942110 GRCh37 Chromosome 5, 133942700: 133942700
9 SAR1B NM_001033503.2(SAR1B): c.537T> A (p.Ser179Arg) single nucleotide variant Pathogenic rs28942110 GRCh38 Chromosome 5, 134607010: 134607010
10 SAR1B NM_001033503.2(SAR1B): c.364G> T (p.Glu122Ter) single nucleotide variant Pathogenic rs137853125 GRCh37 Chromosome 5, 133944178: 133944178
11 SAR1B NM_001033503.2(SAR1B): c.364G> T (p.Glu122Ter) single nucleotide variant Pathogenic rs137853125 GRCh38 Chromosome 5, 134608488: 134608488
12 SAR1B NM_001033503.2(SAR1B): c.554G> T (p.Gly185Val) single nucleotide variant Pathogenic rs137853126 GRCh37 Chromosome 5, 133942683: 133942683
13 SAR1B NM_001033503.2(SAR1B): c.554G> T (p.Gly185Val) single nucleotide variant Pathogenic rs137853126 GRCh38 Chromosome 5, 134606993: 134606993
14 SAR1B NM_001033503.2(SAR1B): c.280A> C (p.Asn94His) single nucleotide variant Uncertain significance rs755835349 GRCh37 Chromosome 5, 133945329: 133945329
15 SAR1B NM_001033503.2(SAR1B): c.280A> C (p.Asn94His) single nucleotide variant Uncertain significance rs755835349 GRCh38 Chromosome 5, 134609639: 134609639

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:

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
Show member pathways
13.49 APOA1 APOB CUBN FABP1 MTTP SAR1B
2
Show member pathways
12.24 APOA1 APOB CUBN
3
Show member pathways
11.94 APOA1 APOB CUBN
4
Show member pathways
11.91 APOA1 APOB CUBN
5
Show member pathways
11.64 APOA1 APOB CUBN FABP1 MTTP SAR1B
6
Show member pathways
11.57 APOA1 APOB MTTP
7 11.36 APOA1 FABP1
8 11.33 SLC10A2 SLC5A1
9
Show member pathways
10.9 APOA1 APOB FABP1 MTTP
10 10.78 APOA1 FABP1
11 10.71 APOA1 APOB CUBN

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

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 APOA1 APOB CUBN MTTP
2 receptor-mediated endocytosis GO:0006898 9.73 APOA1 APOB CUBN
3 lipid transport GO:0006869 9.7 APOA1 APOB MTTP
4 steroid metabolic process GO:0008202 9.69 APOA1 APOB CUBN
5 cholesterol homeostasis GO:0042632 9.61 APOA1 APOB MTTP
6 response to nutrient GO:0007584 9.59 APOA1 CUBN
7 retinoid metabolic process GO:0001523 9.58 APOA1 APOB
8 phospholipid transport GO:0015914 9.58 APOA1 MTTP
9 cholesterol metabolic process GO:0008203 9.58 APOA1 APOB CUBN
10 cholesterol transport GO:0030301 9.57 APOA1 APOB
11 cholesterol efflux GO:0033344 9.55 APOA1 APOB
12 very-low-density lipoprotein particle assembly GO:0034379 9.49 APOB MTTP
13 high-density lipoprotein particle clearance GO:0034384 9.48 APOA1 CUBN
14 chylomicron remodeling GO:0034371 9.46 APOA1 APOB
15 triglyceride catabolic process GO:0019433 9.43 APOA1 APOB FABP1
16 lipoprotein biosynthetic process GO:0042158 9.37 APOA1 APOB
17 lipoprotein metabolic process GO:0042157 9.33 APOA1 APOB MTTP
18 positive regulation of hydrolase activity GO:0051345 9.32 APOA1 FABP1
19 lipoprotein transport GO:0042953 9.13 APOB CUBN MTTP
20 chylomicron assembly GO:0034378 8.8 APOA1 APOB MTTP

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 CUBN FABP1
2 phospholipid binding GO:0005543 9.33 APOA1 APOB FABP1
3 phospholipid transporter activity GO:0005548 9.32 APOA1 MTTP
4 cholesterol transporter activity GO:0017127 9.26 APOA1 APOB
5 lipid binding GO:0008289 9.26 APOA1 APOB FABP1 MTTP
6 lipid transporter activity GO:0005319 8.8 APOA1 APOB MTTP

Sources for Chylomicron Retention Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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