Chylomicron Retention Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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

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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:

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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

Sources

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

Synonyms:

(+)-Ascorbate

(+)-Ascorbic acid

(+)-Sodium L-ascorbate

[<sup>14</sup>C]-ascorbic acid

3-keto-L-Gulofuranolactone

3-oxo-L-Gulofuranolactone

AA

Acid, ascorbic

Acid, L-ascorbic

Acide ascorbique

Acido ascorbico

ácido ascórbico

Acidum ascorbicum

Acidum ascorbinicum

Adenex

Allercorb

Antiscorbic vitamin

Antiscorbutic vitamin

arco-Cee

Ascoltin

ASCOR

Ascorb

Ascor-b.i.d.

Ascorbajen

Ascorbate

Ascorbate radical

Ascorbate, ferrous

Ascorbate, magnesium

Ascorbate, sodium

ASCORBIC ACID

Ascorbic acid radical

Ascorbic acid, monosodium salt

Ascorbicab

Ascorbicap

Ascorbicin

Ascorbin

Ascorbinsaeure

Ascorbinsäure

Ascorbutina

Ascorin

Ascorteal

Ascorvit

Cantan

Cantaxin

Catavin C

Ce lent

Cebicure

Cebid

Cebion

Cebione

Cecon

Cee-caps TD

Cee-vite

Cegiolan

Ceglion

Ceklin

Celaskon

Celin

Cell C

Cemagyl

Ce-mi-lin

Cemill

Cenetone

Cenolate

Cereon

Cergona

Cescorbat

Cetamid

Cetane

Cetane-caps TC

Cetane-caps TD

Cetebe

Cetemican

Cevalin

Cevatine

Cevex

Cevi-bid

Cevimin

Ce-vi-sol

Cevital

Cevitamate

Cevitamic acid

Cevitamin

Cevitan

Cevitex

Cewin

Chewcee

Ciamin

Cipca

Citriscorb

Citrovit

C-Level

C-Long

Colascor

Concemin

C-Quin

C-Span

C-Vimin

Davitamon C

Di-L-ascorbate, magnesium

Dora-C-500

Duoscorb

e 300

e300

e-300

Ferrous ascorbate

gamma-Lactone L-threo-hex-2-enonate

gamma-Lactone L-threo-hex-2-enonic acid

HiCee

Hybrin

ido-C

Juvamine

Kangbingfeng

Kyselina askorbova

L Ascorbic acid

L(+)-Ascorbate

L-(+)-Ascorbate

L(+)-Ascorbic acid

L-(+)-Ascorbic acid

L-3-Ketothreohexuronic acid lactone

Laroscorbine

L-Ascorbate

L-Ascorbic acid

Lemascorb

Liqui-cee

L-Lyxoascorbate

L-Lyxoascorbic acid

L-threo-Ascorbic acid

L-Xyloascorbate

L-Xyloascorbic acid

Magnesium ascorbate

Magnesium ascorbicum

Magnesium di L ascorbate

Magnesium di-L-ascorbate

Magnorbin

Meri-c

Monodehydroascorbate radical

Monodehydroascorbic acid radical

Natrascorb

Natrascorb injectable

Planavit C

Proscorbin

Redoxon

Ribena

Ronotec 100

Rontex 100

Roscorbic

Rovimix C

Scorbacid

Scorbu C

Scorbu-C

Secorbate

Semidehydroascorbate

Semidehydroascorbic acid

Sodascorbate

Sodium ascorbate

Suncoat VC 40

Testascorbic

VASC

Vicelat

Vicin

Vicomin C

Viforcit

Viscorin

Viscorin 100m

Vitace

Vitacee

Vitacimin

Vitacin

Vitamin C

Vitamina C

Vitamisin

Vitascorbol

Xitix

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

Sources

Genetic Tests for Chylomicron Retention Disease

Genetic tests related to Chylomicron Retention Disease:

#	Genetic test	Affiliating Genes
1	Chylomicron Retention Disease ²⁸	SAR1B

Sources

Anatomical Context for Chylomicron Retention Disease

Organs/tissues related to Chylomicron Retention Disease:

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

Sources

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	Jones B...Shoulders CC	12692552	2003
2	Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome. ⁶² ⁵⁷ ⁵	Aguglia U...Quattrone A	10665502	2000
3	Chylomicron retention disease: a long term study of two cohorts. ⁶² ²⁴ ⁵	Peretti N...Levy E	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	Silvain M...Samson-Bouma ME	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	Charcosset M...Lachaux A	17945526	2008
6	SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases. ⁵⁷ ⁵	Annesi G...Quattrone A	17309654	2007
7	Intestinal apoB synthesis, lipids, and lipoproteins in chylomicron retention disease. ⁶² ⁵⁷	Levy E...Roy CC	3430059	1987
8	Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B. Chylomicron retention disease. ⁶² ⁵⁷	Roy CC...Deckelbaum RJ	3792776	1987
9	Lipids Responsible for Intestinal or Hepatic Disorder: When to Suspect a Familial Intestinal Hypocholesterolemia? ⁶² ²⁴	Sissaoui S...Peretti N	33853111	2021
10	Chylomicron retention disease: genetics, biochemistry, and clinical spectrum. ⁶² ²⁴	Levy E...Spahis S	30640893	2019
11	Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. ⁵	Grammatikopoulos T...Thompson RJ	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	Peretti N...Department of Pediatrics, CHU Sainte-Justine Research Center, Universite de Montreal	20920215	2010
13	ER-to-Golgi transport: COP I and COP II function (Review). ⁵⁷	Duden R	12893528	2003
14	Anderson's disease: exclusion of apolipoprotein and intracellular lipid transport genes. ⁵⁷	Dannoura AH...Aggerbeck LP	10521380	1999
15	Studies on lipoprotein metabolism in a family with jejunal chylomicron retention. ⁵⁷	Nemeth A...Angelin B	7601203	1995
16	Anderson's disease: no linkage to the apo B locus. ⁵⁷	Strich D...Freier S	8492252	1993
17	Anderson's disease: genetic exclusion of the apolipoprotein-B gene in two families. ⁵⁷	Pessah M...Infante R	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	Bouma ME...Schmitz J	2426307	1986
19	From Congenital Disorders of Fat Malabsorption to Understanding Intra-Enterocyte Mechanisms Behind Chylomicron Assembly and Secretion. ²⁴	Levy E...Spahis S	33584351	2021
20	Parental influence on human germline de novo mutations in 1,548 trios from Iceland. ²⁴	Jonsson H...Stefansson K	28959963	2017
21	Using genetically engineered mice to understand apolipoprotein-B deficiency syndromes in humans. ⁵³ ⁶²	Raabe M...Young SG	9824535	1998
22	Guidance for the diagnosis and treatment of hypolipidemia disorders. ⁶²	Bredefeld C...Peretti N	36243606	2022
23	Size-specific dose estimates for pediatric head CT protocols based on the AAPM report TG-293. ⁶²	Sapignoli S...De Monte F	35717776	2022
24	[Cardiac imaging in infiltrative cardiomyopathies. What cardiovascular imaging modalities to propose in hypertrophic cardiomyopathies ?] ⁶²	Pasteur-Rousseau A...Damy T	35184821	2022
25	Gilteritinib clinical activity in relapsed/refractory FLT3 mutated acute myeloid leukemia previously treated with FLT3 inhibitors. ⁶²	Numan Y...Altman JK	34981560	2022
26	Chylomicron Retention Disease ⁶²	Burnett JR...Hegele RA	35344313	2022
27	Investigation of hydrogen peroxide-acetic acid pretreatment to enhance the enzymatic digestibility of bamboo residues. ⁶²	Meng F...Yang J	34678451	2022
28	Self-Reported Overall Adherence and Correct Inhalation Technique Discordance in Chronic Obstructive Pulmonary Disease Population. ⁶²	Hendrychova T...Koblizek V	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	Heide J...Zimmermann R	33993304	2021
30	Chylomicron retention disease caused by a new pathogenic variant in sar1b protein: a rare case report from Syria. ⁶²	Doya LJ...Houreih MA	34629076	2021
31	Patient-specific microdosimetry: a proof of concept. ⁶²	DeCunha JM...Enger SA	34384070	2021
32	Coexistence ofs- andd-wave gaps due to pair-hopping and exchange interactions. ⁶²	Koikegami S	34233300	2021
33	Introducing a new prognostic instrument for long-term mortality prediction in COPD patients: the CADOT index. ⁶²	Brat K...Koblizek V	32955038	2021
34	A Case of Hypokalemic Periodic Paralysis in a Young Athlete. ⁶²	Abdelmasih R...Nasser H	34188982	2021
35	[Factors Predicting Difficulty of Morcellation during Holmium Laser Enucleation of the Prostate]. ⁶²	Takaoka N...Moroi S	33957029	2021
36	The Relation Between Clinical Phenotypes, GOLD Groups/Stages and Mortality in COPD Patients - A Prospective Multicenter Study. ⁶²	Brat K...Koblizek V	33953554	2021
37	Sar1b mutant mice recapitulate gastrointestinal abnormalities associated with chylomicron retention disease. ⁶²	Auclair N...Levy E	33964306	2021
38	Inhibition of Sar1b, the Gene Implicated in Chylomicron Retention Disease, Impairs Migration and Morphogenesis of Developing Cortical Neurons. ⁶²	Li X...Chen JG	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	Xie X...Ma J	32672160	2020
40	Chylomicron Retention Disease in A Male Infant: A Rare Case from Pakistan. ⁶²	Kumar S...Parkash O	32257723	2020
41	Unusual Clinical Presentation of Periodic Paralysis: Case Report and Literature Review. ⁶²	Katabi A...Ottaviano P	32274285	2020
42	Novel mutations of SAR1B gene in four children with chylomicron retention disease. ⁶²	Simone ML...Tarugi P	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	Wang Y...Zhu X	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	Blanco-Vaca F...Tondo M	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	Vytrisalova M...Koblizek V	30914956	2019
46	[A Case of Gallbladder Jejunal Anastomosis and Duodenal Jejunal Anastomosis to Maintain QOL for an Elderly Patient with Pancreatic Cancer]. ⁶²	Isozaki T...Matsubara H	30692364	2018
47	[Evaluation of Eligibility Criteria for Elderly Patients of Pancreaticoduodenectomy]. ⁶²	Shiozawa S...Naritaka Y	30692416	2018
48	Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease. ⁶²	Cuerq C...Peretti N	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	Kukacka Z...Przybylski M	29473701	2018
50	Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease. ⁶²	Ferreira H...Alvarez Beltran M	29713611	2018

Sources

Genes for Chylomicron Retention Disease

Genes related to Chylomicron Retention Disease (2 elite genes):

(show all 28)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SAR1B	Secretion Associated Ras Related GTPase 1B	Protein Coding	1712.48	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	10665502 12692552 17309654 (more) 17945526 19285442 21235735 18786134
2	DCDC2	Doublecortin Domain Containing 2	Protein Coding	400	Pathogenic ⁵	27469900
3	APOB	Apolipoprotein B	Protein Coding	35.79	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	17517208 18027103 19056372 (more) 11677202 9824535
4	MTTP	Microsomal Triglyceride Transfer Protein	Protein Coding	21.66	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9686820 19056372 19066957
5	MIA2	MIA SH3 Domain ER Export Factor 2	Protein Coding	12.49	DISEASES inferred ¹⁴ ¹⁴
6	SLC5A1	Solute Carrier Family 5 Member 1	Protein Coding	12.14	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9098004 8563765 10036327 (more) 20421923 15449578 14642859 18288487 8244393 8195156 19965550 8116552
7	PNLIP	Pancreatic Lipase	Protein Coding	10.45	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11276376 15528257
8	CUBN	Cubilin	Protein Coding	9.02	Novoseek inferred ⁵³	10552972 9584852 12687456 (more) 16567952 16722557
9	FABP1	Fatty Acid Binding Protein 1	Protein Coding	8.93	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17605029
10	SLC10A2	Solute Carrier Family 10 Member 2	Protein Coding	8.57	Novoseek inferred ⁵³	17171805 11589382 12819193 (more) 11696242 19184108 11396803 9109432 11535543
11	CFTR	CF Transmembrane Conductance Regulator	Protein Coding	8.28	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19808659 16053460 16093768 (more) 18441018 20011209 12897038 20463919 19760545 15528257
12	SAR1A	Secretion Associated Ras Related GTPase 1A	Protein Coding	8.14	DISEASES inferred ¹⁴
13	LCT	Lactase	Protein Coding	7.71	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19208354
14	SEC13	SEC13 Homolog, Nuclear Pore And COPII Coat Complex Component	Protein Coding	7.46	DISEASES inferred ¹⁴
15	PYY	Peptide YY	Protein Coding	7.32	Novoseek inferred ⁵³	16756746 8489548 18609141 (more) 8345132
16	SEC24B	SEC24 Homolog B, COPII Coat Complex Component	Protein Coding	7.3	DISEASES inferred ¹⁴
17	GCG	Glucagon	Protein Coding	7.25	Novoseek inferred ⁵³	15388486 15201402 15625426 (more) 15780430 18609141 16877979 11231933
18	SLC5A2	Solute Carrier Family 5 Member 2	Protein Coding	6.72	Novoseek inferred ⁵³	19965550
19	TGM2	Transglutaminase 2	Protein Coding	6.63	Novoseek inferred ⁵³	18286171
20	PREB	Prolactin Regulatory Element Binding	Protein Coding	6.62	DISEASES inferred ¹⁴
21	SEC23B	SEC23 Homolog B, COPII Coat Complex Component	Protein Coding	6.57	DISEASES inferred ¹⁴
22	APOA4	Apolipoprotein A4	Protein Coding	6.55	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17991756 11555832
23	SI	Sucrase-Isomaltase	Protein Coding	6.49	Novoseek inferred ⁵³	8169404 16329100 16543230
24	GOLPH3	Golgi Phosphoprotein 3	Protein Coding	6.44	DISEASES inferred ¹⁴
25	SEC24D	SEC24 Homolog D, COPII Coat Complex Component	Protein Coding	6.37	DISEASES inferred ¹⁴
26	MIA3	MIA SH3 Domain ER Export Factor 3	Protein Coding	6.21	DISEASES inferred ¹⁴
27	SEC24C	SEC24 Homolog C, COPII Coat Complex Component	Protein Coding	6.2	DISEASES inferred ¹⁴
28	SEC31A	SEC31 Homolog A, COPII Coat Complex Component	Protein Coding	6.18	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Chylomicron Retention Disease

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

Sources

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	Metabolism ⁶⁶ Show member pathways Metabolism of lipids ⁶⁶	13.6	SLC10A2 SEC24B SEC13 SAR1B PNLIP GCG
2	Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁶ Show member pathways Amino acid transport across the plasma membrane ⁶⁶ Bicarbonate transporters ⁶⁶ Cation-coupled Chloride cotransporters ⁶⁶ Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) ⁶⁶ Defective SLC12A1 causes Bartter syndrome 1 (BS1) ⁶⁶ Defective SLC12A3 causes Gitelman syndrome (GS) ⁶⁶ Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) ⁶⁶ Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT) ⁶⁶ Defective SLC17A5 causes Salla disease (SD) and ISSD ⁶⁶ Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25) ⁶⁶ Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1) ⁶⁶ Defective SLC22A12 causes renal hypouricemia 1 (RHUC1) ⁶⁶ Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1) ⁶⁶ Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP) ⁶⁶ Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI) ⁶⁶ Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) ⁶⁶ Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1) ⁶⁶ Defective SLC26A4 causes Pendred syndrome (PDS) ⁶⁶ Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1) ⁶⁶ Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) ⁶⁶ Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG) ⁶⁶ Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) ⁶⁶ Defective SLC6A5 causes hyperekplexia 3 (HKPX3) ⁶⁶ Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) ⁶⁶ Defective SLC9A9 causes autism 16 (AUTS16) ⁶⁶ Inositol transporters ⁶⁶ Multifunctional anion exchangers ⁶⁶ Na+/Cl- dependent neurotransmitter transporters ⁶⁶ Organic anion transport ⁶⁶ Organic anion transporters ⁶⁶ Organic cation transport ⁶⁶ Organic cation/anion/zwitterion transport ⁶⁶ Proton/oligopeptide cotransporters ⁶⁶ Proton-coupled monocarboxylate transport ⁶⁶ Proton-coupled neutral amino acid transporters ⁶⁶ Rhesus glycoproteins mediate ammonium transport. ⁶⁶ SLC-mediated transmembrane transport ⁶⁶ Sodium/Calcium exchangers ⁶⁶ Sodium/Proton exchangers ⁶⁶ Sodium-coupled phosphate cotransporters ⁶⁶ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁶ Transport of bile salts and organic acids, metal ions and amine compounds ⁶⁶ Transport of small molecules ⁶⁶ Type II Na+/Pi cotransporters ⁶⁶ Variant SLC6A14 may confer susceptibility towards obesity ⁶⁶	13.08	APOB CFTR CUBN MTTP SAR1B SLC5A1
3	Vesicle-mediated transport ⁶⁶ Show member pathways Membrane Trafficking ⁶⁶	13.03	SEC24B SEC13 SAR1B PREB MIA2 CFTR
4	Transport to the Golgi and subsequent modification ⁶⁶ Show member pathways Asparagine N-linked glycosylation ⁶⁶ COPI-mediated anterograde transport ⁶⁶ ER to Golgi Anterograde Transport ⁶⁶ N-glycan trimming and elongation in the cis-Golgi ⁶⁶ Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2 ⁶⁶	12.82	SEC24B SEC13 SAR1B PREB MIA2
5	Glucose / Energy Metabolism ³	12.3	SLC5A2 SLC5A1 GCG FABP1
6	Plasma lipoprotein assembly, remodeling, and clearance ⁶⁶ Show member pathways Assembly of active LPL and LIPC lipase complexes ⁶⁶ Chylomicron assembly ⁶⁶ Chylomicron clearance ⁶⁶ Chylomicron remodeling ⁶⁶ Defective ABCA1 causes TGD ⁶⁶ HDL assembly ⁶⁶ HDL clearance ⁶⁶ HDL remodeling ⁶⁶ LDL clearance ⁶⁶ LDL remodeling ⁶⁶ Metabolic pathway of LDL, HDL and TG, including diseases ⁷⁴ Plasma lipoprotein assembly ⁶⁶ Plasma lipoprotein clearance ⁶⁶ Plasma lipoprotein remodeling ⁶⁶ VLDL assembly ⁶⁶ VLDL clearance ⁶⁶ VLDLR internalisation and degradation ⁶⁶	12.25	SAR1B MTTP CUBN APOB
7	Disorders of transmembrane transporters ⁶⁶ Show member pathways SLC transporter disorders ⁶⁶	12.2	SLC5A2 SLC5A1 SEC13 CFTR
8	Metabolism of steroids ⁶⁶ Show member pathways Activation of gene expression by SREBF (SREBP) ⁶⁶ allopregnanolone biosynthesis ⁶¹ androgen biosynthesis ⁶¹ Cholesterol synthesis disorders ⁷⁴ Defective CYP17A1 causes AH5 ⁶⁶ Regulation of cholesterol biosynthesis by SREBP (SREBF) ⁶⁶ Sterol regulatory element-binding proteins (SREBP) signaling ⁷⁴ Vitamin D (calciferol) metabolism ⁶⁶	12.19	SLC10A2 SEC24B SEC13 SAR1B SAR1A CUBN
9	wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) ²² Show member pathways Delta508-CFTR traffic / ER-to-Golgi in CF ²² Normal wtCFTR traffic / ER-to-Golgi ²² RHO GTPases regulate CFTR trafficking ⁶⁶ Transport Clathrin-coated vesicle cycle ²² wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF) ²²	11.86	SEC24B SEC13 SAR1B SAR1A PREB CFTR
10	Digestion and absorption ⁶⁶ Show member pathways Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS) ⁶⁶ Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM) ⁶⁶ Digestion ⁶⁶ Digestion of dietary carbohydrate ⁶⁶ Digestion of dietary lipid ⁶⁶ Intestinal absorption ⁶⁶ Intestinal hexose absorption ⁶⁶ Intestinal lipid absorption ⁶⁶ Intestinal saccharidase deficiencies ⁶⁶	11.51	SLC5A1 PNLIP LCT
11	COPII-mediated vesicle transport ⁶⁶ Show member pathways Cargo concentration in the ER ⁶⁶	11.03	SEC24B SEC13 SAR1B PREB MIA2
12	Cellular hexose transport ⁶⁶ Show member pathways Defective SLC2A10 causes arterial tortuosity syndrome (ATS) ⁶⁶ Defective SLC5A2 causes renal glucosuria (GLYS1) ⁶⁶	10.9	SLC5A2 SLC5A1
13	Antigen Presentation: Folding, assembly and peptide loading of class I MHC ⁶⁶	10.9	SEC24B SEC13 SAR1B
14	FOXA2 pathway ⁷⁴	10.83	MTTP APOB
15	SCFA and skeletal muscle substrate metabolism ⁷⁴	10.1	PYY GCG

Sources

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

Sources for Chylomicron Retention Disease

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

CMRD MCID: CHY002 MIFTS: 62	Chylomicron Retention Disease (CMRD) Categories: Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Chylomicron Retention Disease (CMRD)

Aliases & Classifications for Chylomicron Retention Disease

MalaCards integrated aliases for Chylomicron Retention Disease:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

OMIM®:

Classifications:

External Ids:

Summaries for Chylomicron Retention Disease

Related Diseases for Chylomicron Retention Disease

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

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

Graphical network of the top 20 diseases related to Chylomicron Retention Disease:

Symptoms & Phenotypes for Chylomicron Retention Disease

Human phenotypes related to Chylomicron Retention Disease:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Chylomicron Retention Disease:

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

MGI Mouse Phenotypes related to Chylomicron Retention Disease:

Drugs & Therapeutics for Chylomicron Retention Disease

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

Interventional clinical trials:

Cochrane evidence based reviews: chylomicron retention disease

Genetic Tests for Chylomicron Retention Disease

Genetic tests related to Chylomicron Retention Disease:

Anatomical Context for Chylomicron Retention Disease

Organs/tissues related to Chylomicron Retention Disease:

Publications for Chylomicron Retention Disease

Articles related to Chylomicron Retention Disease:

Genes for Chylomicron Retention Disease

Genes related to Chylomicron Retention Disease (2 elite genes):

Variations for Chylomicron Retention Disease

ClinVar genetic disease variations for Chylomicron Retention Disease:

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

Expression for Chylomicron Retention Disease

Pathways for Chylomicron Retention Disease

Pathways related to Chylomicron Retention Disease according to GeneCards Suite gene sharing:

GO Terms for Chylomicron Retention Disease

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

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

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

Sources for Chylomicron Retention Disease