Chylomicron Retention Disease

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

Aliases & Classifications for Chylomicron Retention Disease

MalaCards integrated aliases for Chylomicron Retention Disease:

Name: Chylomicron Retention Disease 54 12 50 24 25 56 71 29 13 52 42 14 69
Cmrd 12 50 24 25 56 71
Anderson Disease 12 24 25 56 71
Lipid Transport Defect of Intestine 50 24 25 71
Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein in Intestinal Cells 50 25 71
Andd 24 71
Hypobetaliproteinemia with Accumulation of Apolipoprotein B-Like Protein in Intestinal Cells 24
Malabsorption Syndromes 42
Malabsorption Syndrome 69
Anderson Syndrome 25
Andersons Disease 52
Crd 56


Orphanet epidemiological data:

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


autosomal recessive

onset in infancy


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


Summaries for Chylomicron Retention Disease

NIH Rare Diseases : 50 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 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. last updated: 3/15/2011

MalaCards based summary : Chylomicron Retention Disease, also known as cmrd, is related to cone-rod dystrophy and cortisone reductase deficiency 1, and has symptoms including failure to thrive, visual impairment and diarrhea. 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 Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include bone and eye, and related phenotypes are homeostasis/metabolism and liver/biliary system

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 25 Chylomicron retention disease is an inherited disorder that affects the absorption of dietary fats, cholesterol, and certain fat-soluble vitamins. As food is digested after a meal, molecules called chylomicrons are formed to carry fat and cholesterol from the intestine into the bloodstream. Chylomicrons are also necessary for the absorption of certain fat-soluble vitamins, such as vitamin E and vitamin D. A lack of chylomicron transport causes severely decreased absorption (malabsorption) of dietary fats and fat-soluble vitamins. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth and development.

OMIM : 54
Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy (Dannoura et al., 1999). (246700)

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.

Wikipedia : 72 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 70)
id Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 11.8
2 cortisone reductase deficiency 1 11.6
3 cortisone reductase deficiency 2 11.0
4 hypobetalipoproteinemia, familial, 2 11.0
5 hypolipoproteinemia 11.0
6 spondylometaphyseal dysplasia with cone-rod dystrophy 10.9
7 neuroectodermal endocrine syndrome 10.8
8 andersen syndrome type 1 10.8
9 daneman davy mancer syndrome 10.8
10 refsum disease 10.8
11 tropical sprue 10.7
12 migraine with or without aura 1 10.4 APOA1 APOB
13 otospondylomegaepiphyseal dysplasia 10.4 APOA1 APOB
14 legg-calve-perthes disease 10.4 APOA1 APOB
15 islet cell tumor 10.4 APOA1 APOB
16 fetal parvovirus syndrome 10.4 APOA1 APOB
17 joubert syndrome 21 10.4 APOA1 APOB
18 alzheimer disease-2 10.3 APOA1 APOB
19 chondrocalcinosis with early-onset osteoarthritis 10.3 APOA1 APOB
20 stone in bladder diverticulum 10.3 APOA1 APOB
21 dental anomalies and short stature 10.3 APOA1 APOB
22 sitosterolemia 10.3 APOB MTTP
23 pontocerebellar hypoplasia 10.3 APOA1 APOB
24 melorheostosis 10.3 APOA1 APOB
25 fish-eye disease 10.2 APOA1 APOB
26 glossopharyngeal nerve disease 10.2 APOA1 APOB
27 hyperlipidemia, familial combined 10.2 APOA1 APOB
28 apolipoprotein c-iii deficiency 10.1 APOA1 APOB
29 hypobetalipoproteinemia 10.1 APOB MTTP SAR1B
30 acute apical periodontitis 10.1 APOA1 APOB
31 obesity, hyperphagia, and developmental delay 10.0 APOA1 APOB
32 angina pectoris 10.0 APOA1 APOB
33 wolfram syndrome 2 10.0 APOA1 APOB MTTP
34 skin squamous cell carcinoma 10.0 APOA1 APOB MTTP
35 codas syndrome 10.0 APOA1 APOB MTTP
36 diarrhea 10.0
37 lactose intolerance 9.9 MTTP SLC10A2
38 lissencephaly 6, with microcephaly 9.9 APOA1 APOB
39 microphthalmia 9.9
40 melanoma 9.9
41 dystonia 9.8
42 abetalipoproteinemia 9.8
43 tremor 9.8
44 ovarian clear cell malignant adenofibroma 9.7 APOA1 APOB
45 basal cell carcinoma 9.7
46 hiv-1 9.7
47 rhinitis 9.7
48 leukemia 9.7
49 breast cancer 9.7
50 hypoxia 9.7

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

Active Peptic Ulcer Disease Acute Cystitis
Celiac Disease 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:


Growth- Other:
failure to thrive
growth retardation

Abdomen- Gastroin testinal:
fat malabsorption
severe diarrhea
Neurologic- Peripheral Nervous System:
peripheral neuropathy
neurologic deficits may occur secondarily to malabsorption
diminished or absent deep tendon reflexes
diminished vibratory sense

Laboratory- Abnormalities:
deficiency of fat-soluble vitamins
normal serum triglycerides
absence of chylomicrons in lymph and plasma

Clinical features from OMIM:


Human phenotypes related to Chylomicron Retention Disease:

56 32 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 frequent (33%) Frequent (79-30%) HP:0001508
2 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
3 diarrhea 56 32 obligate (100%) Obligate (100%) HP:0002014
4 vomiting 56 32 frequent (33%) Frequent (79-30%) HP:0002013
5 areflexia 56 32 very rare (1%) Very rare (<4-1%) HP:0001284
6 hepatic steatosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001397
7 acanthocytosis 56 32 very rare (1%) Very rare (<4-1%) HP:0001927
8 abdominal distention 56 32 frequent (33%) Frequent (79-30%) HP:0003270
9 retinopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0000488
10 steatorrhea 56 32 hallmark (90%) Very frequent (99-80%) HP:0002570
11 hypocholesterolemia 56 32 obligate (100%) Obligate (100%) HP:0003146
12 impaired proprioception 56 32 very rare (1%) Very rare (<4-1%) HP:0010831
13 growth delay 56 32 frequent (33%) Frequent (79-30%) HP:0001510
14 elevated hepatic transaminases 56 32 hallmark (90%) Very frequent (99-80%) HP:0002910
15 increased hepatocellular lipid droplets 56 32 frequent (33%) Frequent (79-30%) HP:0006565
16 abnormality of vitamin metabolism 56 32 frequent (33%) Frequent (79-30%) HP:0100508
17 hypertriglyceridemia 56 Excluded (0%)
18 intellectual disability 32 HP:0001249
19 myopathy 56 Very rare (<4-1%)
20 hypoalbuminemia 32 HP:0003073
21 hypobetalipoproteinemia 32 HP:0003563
22 malnutrition 32 HP:0004395
23 fat malabsorption 56 Very frequent (99-80%)
24 abnormality of the eye 32 HP:0000478
25 reduced tendon reflexes 32 HP:0001315
26 abnormality of blood and blood-forming tissues 32 HP:0001871
27 emg: myopathic abnormalities 56 Occasional (29-5%)
28 impaired vibratory sensation 32 HP:0002495
29 emg 32 occasional (7.5%) HP:0003458

UMLS symptoms related to Chylomicron Retention Disease:

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

MGI Mouse Phenotypes related to Chylomicron Retention Disease:

id 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 FABP1 MTTP SLC10A2 APOA1 APOB

Drugs & Therapeutics for Chylomicron Retention Disease

Interventional clinical trials:

id 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:

id Genetic test Affiliating Genes
1 Chylomicron Retention Disease 29 24 SAR1B

Anatomical Context for Chylomicron Retention Disease

MalaCards organs/tissues related to Chylomicron Retention Disease:

Bone, Eye

Publications for Chylomicron Retention Disease

Articles related to Chylomicron Retention Disease:

(show all 25)
id Title Authors Year
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 )
Chylomicron retention disease: A rare cause of chronic diarrhea. ( 27266643 )
Studying lipoprotein trafficking in zebrafish, the case of chylomicron retention disease. ( 25572701 )
An infant with vomiting, diarrhea, and failure to thrive. Chylomicron retention disease. ( 24560855 )
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. ( 23043934 )
Chylomicron retention disease. ( 22959141 )
Chylomicron retention disease: report of two cases from a Greek Island. ( 23329770 )
Low rate of production of apolipoproteins B100 and AI in 2 patients with Anderson disease (chylomicron retention disease). ( 22441101 )
Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease). ( 21235735 )
Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence. ( 22104167 )
Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers. ( 20920215 )
Chylomicron retention disease: dystonia as a new clinical feature. ( 20589877 )
Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene. ( 19846172 )
Chylomicron retention disease: a long term study of two cohorts. ( 19285442 )
Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease. ( 19274794 )
Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities. ( 18786134 )
Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein. ( 17945526 )
SIL1 and SARA2 mutations in Marinesco-Sjogren and chylomicron retention diseases. ( 17309654 )
Chylomicron retention disease--the role of ultrastructural examination in differential diagnosis. ( 11770019 )
Vitamin E deficiency due to chylomicron retention disease in Marinesco-SjAPgren syndrome. ( 10665502 )
Chylomicron retention disease: exclusion of apolipoprotein B gene defects and detection of mRNA editing in an affected family. ( 7980720 )
Chylomicron retention disease. ( 3335330 )
Intestinal apoB synthesis, lipids, and lipoproteins in chylomicron retention disease. ( 3430059 )
Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B. Chylomicron retention disease. ( 3792776 )
Action tremor as a manifestation of chylomicron retention disease. ( 6651243 )

Variations for Chylomicron Retention Disease

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

id 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

ClinVar genetic disease variations for Chylomicron Retention Disease:

id 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.409G> A (p.Asp137Asn) single nucleotide variant Pathogenic rs28942109 GRCh37 Chromosome 5, 133944133: 133944133
3 SAR1B SAR1B, 2-BP DEL, 75TG deletion Pathogenic
4 SAR1B NM_001033503.2(SAR1B): c.537T> A (p.Ser179Arg) single nucleotide variant Pathogenic rs28942110 GRCh37 Chromosome 5, 133942700: 133942700
5 SAR1B SAR1B, 4-BP DUP, 555TTAC duplication Pathogenic
6 SAR1B SAR1B, 349, G-C, -1 single nucleotide variant Pathogenic
7 SAR1B NM_001033503.2(SAR1B): c.364G> T (p.Glu122Ter) single nucleotide variant Pathogenic rs137853125 GRCh37 Chromosome 5, 133944178: 133944178
8 SAR1B NM_001033503.2(SAR1B): c.554G> T (p.Gly185Val) single nucleotide variant Pathogenic rs137853126 GRCh37 Chromosome 5, 133942683: 133942683

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:

id Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
Show member pathways
Show member pathways
6 11.31 APOA1 FABP1
7 11.28 SLC10A2 SLC5A1
Show member pathways
9 10.78 APOA1 FABP1
10 10.71 APOA1 APOB CUBN

GO Terms for Chylomicron Retention Disease

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

id Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.61 CUBN SLC10A2 SLC5A1
2 endoplasmic reticulum lumen GO:0005788 9.58 APOA1 APOB MTTP
3 endocytic vesicle GO:0030139 9.46 APOA1 CUBN
4 very-low-density lipoprotein particle GO:0034361 9.37 APOA1 APOB
5 endocytic vesicle lumen GO:0071682 9.32 APOA1 APOB
6 low-density lipoprotein particle GO:0034362 9.26 APOA1 APOB
7 chylomicron GO:0042627 9.16 APOA1 APOB
8 intermediate-density lipoprotein particle GO:0034363 8.96 APOA1 APOB
9 brush border membrane GO:0031526 8.8 CUBN MTTP SLC5A1

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

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.85 APOA1 APOB CUBN MTTP
2 receptor-mediated endocytosis GO:0006898 9.75 APOA1 APOB CUBN
3 lipid transport GO:0006869 9.71 APOA1 APOB MTTP
4 steroid metabolic process GO:0008202 9.7 APOA1 APOB CUBN
5 cholesterol metabolic process GO:0008203 9.63 APOA1 APOB CUBN
6 retinoid metabolic process GO:0001523 9.59 APOA1 APOB
7 phospholipid transport GO:0015914 9.58 APOA1 MTTP
8 cholesterol homeostasis GO:0042632 9.58 APOA1 APOB MTTP
9 cholesterol transport GO:0030301 9.57 APOA1 APOB
10 cholesterol efflux GO:0033344 9.56 APOA1 APOB
11 very-low-density lipoprotein particle assembly GO:0034379 9.51 APOB MTTP
12 triglyceride catabolic process GO:0019433 9.5 APOA1 APOB FABP1
13 chylomicron remodeling GO:0034371 9.49 APOA1 APOB
14 high-density lipoprotein particle clearance GO:0034384 9.48 APOA1 CUBN
15 lipoprotein biosynthetic process GO:0042158 9.43 APOA1 APOB
16 lipoprotein metabolic process GO:0042157 9.43 APOA1 APOB MTTP
17 positive regulation of hydrolase activity GO:0051345 9.37 APOA1 FABP1
18 lipoprotein transport GO:0042953 9.33 APOB CUBN MTTP
19 transport GO:0006810 9.23 APOA1 APOB CUBN FABP1 MTTP SAR1B
20 chylomicron assembly GO:0034378 9.13 APOA1 APOB MTTP

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

id Name GO ID Score Top Affiliating Genes
1 transporter activity GO:0005215 9.54 CUBN FABP1 SLC5A1
2 phospholipid binding GO:0005543 9.33 APOA1 APOB FABP1
3 cholesterol transporter activity GO:0017127 9.32 APOA1 APOB
4 phospholipid transporter activity GO:0005548 9.26 APOA1 MTTP
5 lipid binding GO:0008289 9.26 APOA1 APOB FABP1 MTTP
6 drug binding GO:0008144 9.1 FABP1
7 lipid transporter activity GO:0005319 8.8 APOA1 APOB MTTP

Sources for Chylomicron Retention Disease

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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