CMRD
MCID: CHY002
MIFTS: 53

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 58 12 54 26 60 76 38 30 13 56 6 45 15 41 74
Cmrd 58 12 54 26 60 76
Anderson Disease 58 12 26 60 76
Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein in Intestinal Cells 58 54 26 76
Lipid Transport Defect of Intestine 58 54 26 76
Malabsorption Syndrome 17 74
Andd 58 76
Malabsorption Syndromes 45
Anderson Disease; Andd 58
Anderson Syndrome 26
Andersons Disease 56
Crd 60

Characteristics:

Orphanet epidemiological data:

60
chylomicron retention disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

33
chylomicron retention disease:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Chylomicron Retention Disease

NIH Rare Diseases : 54 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 and eye, 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 : 26 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 : 58 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 : 76 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 : 77 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 140)
# Related Disease Score Top Affiliating Genes
1 hypobetalipoproteinemia, familial, 2 32.1 APOA1 APOB
2 hypolipoproteinemia 31.5 APOA1 APOB MTTP SAR1B
3 abetalipoproteinemia 29.9 APOA1 APOB MTTP SAR1B
4 steatorrhea 29.6 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 12.2
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 11.1
14 goiter, multinodular, cystic renal disease, and digital anomalies 11.1
15 refsum disease, classic 11.1
16 daneman davy mancer syndrome 11.1
17 tropical sprue 11.0
18 bowenoid papulosis 10.3
19 homozygous familial hypercholesterolemia 10.2 APOB MTTP
20 hyperlipoproteinemia, type v 10.2 APOA1 APOB
21 leukodystrophy, hypomyelinating, 3 10.2 APOA1 APOB
22 hyperlipidemia, familial combined 10.2 APOA1 APOB
23 dysbaric osteonecrosis 10.2 APOA1 APOB
24 ischemic heart disease 10.2 APOA1 APOB
25 fetal macrosomia 10.2 APOA1 APOB
26 hypoalphalipoproteinemia, primary 10.2 APOA1 APOB
27 vitamin e, familial isolated deficiency of 10.2 APOA1 APOB
28 diarrhea 10.2
29 hypertriglyceridemia, familial 10.1 APOA1 APOB
30 sitosterolemia 10.1 APOB MTTP
31 hyperlipoproteinemia, type iii 10.1 APOA1 APOB
32 arcus corneae 10.1 APOA1 APOB
33 hyperalphalipoproteinemia 1 10.1 APOA1 APOB
34 fatty liver disease, nonalcoholic 1 10.1 FABP1 MTTP
35 coronary stenosis 10.1 APOA1 APOB
36 retinoblastoma 10.1
37 microphthalmia 10.1
38 rhinitis 10.1
39 lecithin:cholesterol acyltransferase deficiency 10.1 APOA1 APOB
40 carotid artery disease 10.1 APOA1 APOB
41 gallbladder disease 10.1 APOA1 APOB
42 tangier disease 10.1 APOA1 APOB
43 hypobetalipoproteinemia, familial, 1 10.0 APOB MTTP SAR1B
44 dystonia 10.0
45 tremor 10.0
46 peripheral vascular disease 10.0 APOA1 APOB
47 vaginal cancer 10.0 SAR1B SLC10A2
48 hyperlipoproteinemia, type iv 10.0 APOB SLC10A2
49 familial hyperlipidemia 10.0 APOA1 APOB
50 lipid metabolism disorder 10.0 APOA1 APOB MTTP

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:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diarrhea 60 33 obligate (100%) Obligate (100%) HP:0002014
2 hypocholesterolemia 60 33 obligate (100%) Obligate (100%) HP:0003146
3 retinopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000488
4 steatorrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0002570
5 elevated hepatic transaminase 33 hallmark (90%) HP:0002910
6 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
7 vomiting 60 33 frequent (33%) Frequent (79-30%) HP:0002013
8 growth delay 60 33 frequent (33%) Frequent (79-30%) HP:0001510
9 abdominal distention 60 33 frequent (33%) Frequent (79-30%) HP:0003270
10 increased hepatocellular lipid droplets 60 33 frequent (33%) Frequent (79-30%) HP:0006565
11 abnormality of vitamin metabolism 60 33 frequent (33%) Frequent (79-30%) HP:0100508
12 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
13 hepatic steatosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001397
14 emg: myopathic abnormalities 60 33 occasional (7.5%) Occasional (29-5%) HP:0003458
15 impaired proprioception 60 33 very rare (1%) Very rare (<4-1%) HP:0010831
16 areflexia 60 33 very rare (1%) Very rare (<4-1%) HP:0001284
17 acanthocytosis 60 33 very rare (1%) Very rare (<4-1%) HP:0001927
18 intellectual disability 33 HP:0001249
19 myopathy 60 Very rare (<4-1%)
20 abnormality of the eye 33 HP:0000478
21 hypertriglyceridemia 60 Excluded (0%)
22 elevated hepatic transaminases 60 Very frequent (99-80%)
23 reduced tendon reflexes 33 HP:0001315
24 abnormality of blood and blood-forming tissues 33 HP:0001871
25 impaired vibratory sensation 33 HP:0002495
26 hypoalbuminemia 33 HP:0003073
27 fat malabsorption 60 Very frequent (99-80%)
28 malnutrition 33 HP:0004395
29 decreased ldl cholesterol concentration 33 HP:0003563

Symptoms via clinical synopsis from OMIM:

58
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

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:

47
# 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 30 SAR1B

Anatomical Context for Chylomicron Retention Disease

MalaCards organs/tissues related to Chylomicron Retention Disease:

42
Bone, Eye

Publications for Chylomicron Retention Disease

Articles related to Chylomicron Retention Disease:

(show all 29)
# Title Authors Year
1
Chylomicron retention disease: genetics, biochemistry, and clinical spectrum. ( 30640893 )
2019
2
Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease. ( 29713611 )
2018
3
Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease. ( 30021760 )
2018
4
Understanding Chylomicron Retention Disease Through Sar1b Gtpase Gene Disruption: Insight From Cell Culture. ( 28982670 )
2017
5
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
6
Chylomicron retention disease: A rare cause of chronic diarrhea. ( 27266643 )
2016
7
Studying lipoprotein trafficking in zebrafish, the case of chylomicron retention disease. ( 25572701 )
2015
8
An infant with vomiting, diarrhea, and failure to thrive. Chylomicron retention disease. ( 24560855 )
2014
9
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. ( 23043934 )
2013
10
Chylomicron retention disease. ( 22959141 )
2013
11
Low rate of production of apolipoproteins B100 and AI in 2 patients with Anderson disease (chylomicron retention disease). ( 22441101 )
2012
12
Chylomicron retention disease: report of two cases from a Greek Island. ( 23329770 )
2012
13
Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease). ( 21235735 )
2011
14
Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence. ( 22104167 )
2011
15
Chylomicron retention disease: dystonia as a new clinical feature. ( 20589877 )
2010
16
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
17
Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene. ( 19846172 )
2010
18
Chylomicron retention disease: a long term study of two cohorts. ( 19285442 )
2009
19
Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease. ( 19274794 )
2009
20
Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities. ( 18786134 )
2008
21
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
22
Chylomicron retention disease--the role of ultrastructural examination in differential diagnosis. ( 11770019 )
2001
23
Vitamin E deficiency due to chylomicron retention disease in Marinesco-SjAPgren syndrome. ( 10665502 )
2000
24
Chylomicron retention disease: exclusion of apolipoprotein B gene defects and detection of mRNA editing in an affected family. ( 7980720 )
1994
25
Chylomicron retention disease. ( 3335330 )
1988
26
Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B. Chylomicron retention disease. ( 3792776 )
1987
27
Intestinal apoB synthesis, lipids, and lipoproteins in chylomicron retention disease. ( 3430059 )
1987
28
Action tremor as a manifestation of chylomicron retention disease. ( 6651243 )
1983
29
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:

76
# 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 NM_001033503.2(SAR1B): c.109G> A (p.Gly37Arg) single nucleotide variant Pathogenic rs121917846 GRCh37 Chromosome 5, 133956692: 133956692
2 SAR1B NM_001033503.2(SAR1B): c.109G> A (p.Gly37Arg) single nucleotide variant Pathogenic rs121917846 GRCh38 Chromosome 5, 134621002: 134621002
3 SAR1B NM_001033503.2(SAR1B): c.409G> A (p.Asp137Asn) single nucleotide variant Pathogenic/Likely pathogenic rs28942109 GRCh37 Chromosome 5, 133944133: 133944133
4 SAR1B NM_001033503.2(SAR1B): c.409G> A (p.Asp137Asn) single nucleotide variant Pathogenic/Likely pathogenic rs28942109 GRCh38 Chromosome 5, 134608443: 134608443
5 SAR1B SAR1B, 2-BP DEL, 75TG deletion Pathogenic
6 SAR1B NM_001033503.2(SAR1B): c.537T> A (p.Ser179Arg) single nucleotide variant Pathogenic rs28942110 GRCh37 Chromosome 5, 133942700: 133942700
7 SAR1B NM_001033503.2(SAR1B): c.537T> A (p.Ser179Arg) single nucleotide variant Pathogenic rs28942110 GRCh38 Chromosome 5, 134607010: 134607010
8 SAR1B SAR1B, 4-BP DUP, 555TTAC duplication Pathogenic
9 SAR1B SAR1B, 349, G-C, -1 single nucleotide variant Pathogenic
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:

38
# 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 9.13 APOA1 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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