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Chylomicron retention disease(CMRD)

MedGen UID:
208651
Concept ID:
C0795956
Disease or Syndrome
Synonyms: CMRD; Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells; Lipid transport defect of intestine
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Chylomicron retention disease (702364003); Lipid transport defect of intestine (702364003); Anderson syndrome (702364003)
 
Gene (location): SAR1B (5q31.1)
OMIM®: 246700
Orphanet: ORPHA71

Definition

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

Additional description

From GHR
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.The signs and symptoms of chylomicron retention disease appear in the first few months of life. They can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; and fatty, foul-smelling stools (steatorrhea). Other features of this disorder may develop later in childhood and often impair the function of the nervous system. Affected people may eventually develop decreased reflexes (hyporeflexia) and a decreased ability to feel vibrations.  https://ghr.nlm.nih.gov/condition/chylomicron-retention-disease

Clinical features

Congenital anomaly of eye
MedGen UID:
4623
Concept ID:
C0015393
Disease or Syndrome
Congenital absence of or defects in structures of the eye; may also be hereditary.
Failure to thrive
MedGen UID:
115900
Concept ID:
C0231246
Finding
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Growth delay
MedGen UID:
765377
Concept ID:
C3552463
Finding
A deficiency or slowing down of growth pre- and postnatally.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Diarrhea means that you have loose, watery stools more than three times in one day. You may also have cramps, bloating, nausea and an urgent need to have a bowel movement. . Causes of diarrhea include bacteria, viruses or parasites, certain medicines, food intolerances and diseases that affect the stomach, small intestine or colon. In many cases, no cause can be found. . Although usually not harmful, diarrhea can become dangerous or signal a more serious problem. You should talk to your doctor if you have a strong pain in your abdomen or rectum, a fever, blood in your stools, severe diarrhea for more than three days or symptoms of dehydration. If your child has diarrhea, do not hesitate to call the doctor for advice. Diarrhea can be dangerous in children. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Malnutrition
MedGen UID:
56429
Concept ID:
C0162429
Disease or Syndrome
Food provides the energy and nutrients you need to be healthy. If you don't get enough nutrients -- including proteins, carbohydrates, fats, vitamins, and minerals - you may suffer from malnutrition. Causes of malnutrition include:. -Lack of specific nutrients in your diet. Even the lack of one vitamin can lead to malnutrition. -An unbalanced diet. -Certain medical problems, such as malabsorption syndromes and cancers. Symptoms may include fatigue, dizziness, and weight loss. Or, you may have no symptoms. To diagnose the cause of the problem, your doctor may do blood tests and a nutritional assessment. Treatment may include replacing the missing nutrients and treating the underlying cause.
Abnormality of blood and blood-forming tissues
MedGen UID:
893091
Concept ID:
C4020864
Anatomical Abnormality
An abnormality of the hematopoietic system.
Hypoalbuminemia
MedGen UID:
68694
Concept ID:
C0239981
Finding
Reduced serum albumin concentration

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChylomicron retention disease
Follow this link to review classifications for Chylomicron retention disease in Orphanet.

Recent clinical studies

Etiology

Ramasamy I
Clin Chim Acta 2016 Feb 15;454:143-85. Epub 2015 Nov 4 doi: 10.1016/j.cca.2015.10.033. PMID: 26546829
Okada T, Miyashita M, Fukuhara J, Sugitani M, Ueno T, Samson-Bouma ME, Aggerbeck LP
Orphanet J Rare Dis 2011 Nov 21;6:78. doi: 10.1186/1750-1172-6-78. PMID: 22104167Free PMC Article
Peretti N, Sassolas A, Roy CC, Deslandres C, Charcosset M, Castagnetti J, Pugnet-Chardon L, Moulin P, Labarge S, Bouthillier L, Lachaux A, Levy E; Department of Nutrition-Hepatogastroenterology, Hôpital Femme Mère Enfant, Bron, Université Lyon 1.; Department of Pediatrics, CHU Sainte-Justine Research Center, Université de Montréal.
Orphanet J Rare Dis 2010 Sep 29;5:24. doi: 10.1186/1750-1172-5-24. PMID: 20920215Free PMC Article
Peretti N, Roy CC, Sassolas A, Deslandres C, Drouin E, Rasquin A, Seidman E, Brochu P, Vohl MC, Labarge S, Bouvier R, Samson-Bouma ME, Charcosset M, Lachaux A, Levy E
Mol Genet Metab 2009 Jun;97(2):136-42. Epub 2009 Feb 20 doi: 10.1016/j.ymgme.2009.02.003. PMID: 19285442
Boldrini R, Biselli R, Bosman C
Pathol Res Pract 2001;197(11):753-7. doi: 10.1078/0344-0338-00154. PMID: 11770019

Diagnosis

Ben Ameur S, Aloulou H, Jlidi N, Kamoun F, Chabchoub I, Di Filippo M, Sfaihi L, Hachicha M
Arch Pediatr 2016 Jul;23(7):735-7. Epub 2016 Jun 3 doi: 10.1016/j.arcped.2016.04.010. PMID: 27266643
Mouzaki M, Vresk L, Gonska T
Gastroenterology 2014 Apr;146(4):912, 1137-8. Epub 2014 Feb 19 doi: 10.1053/j.gastro.2013.11.035. PMID: 24560855
Magnolo L, Najah M, Fancello T, Di Leo E, Pinotti E, Brini I, Gueddiche NM, Calandra S, Slimene NM, Tarugi P
Gene 2013 Jan 1;512(1):28-34. Epub 2012 Oct 6 doi: 10.1016/j.gene.2012.09.117. PMID: 23043934
Desaldeleer C, Henno S, Bruneau B, Dabadie A
Dig Liver Dis 2013 Feb;45(2):e3. Epub 2012 Sep 5 doi: 10.1016/j.dld.2012.08.003. PMID: 22959141
Papadogeorgou P, Roma E, Sassolas A, Orfanou I, Malliarou A, Sakka S, Chouliaras G
J Pediatr Endocrinol Metab 2012;25(11-12):1191-4. doi: 10.1515/jpem-2012-0243. PMID: 23329770

Therapy

Marcil V, Seidman E, Sinnett D, Sanchez R, Spahis S, Sané A, Levy E
Cell Physiol Biochem 2014;33(6):1815-26. Epub 2014 Jun 17 doi: 10.1159/000362960. PMID: 24969168
Mouzaki M, Vresk L, Gonska T
Gastroenterology 2014 Apr;146(4):912, 1137-8. Epub 2014 Feb 19 doi: 10.1053/j.gastro.2013.11.035. PMID: 24560855
Papadogeorgou P, Roma E, Sassolas A, Orfanou I, Malliarou A, Sakka S, Chouliaras G
J Pediatr Endocrinol Metab 2012;25(11-12):1191-4. doi: 10.1515/jpem-2012-0243. PMID: 23329770
Ouguerram K, Zaïr Y, Kasbi-Chadli F, Nazih H, Bligny D, Schmitz J, Aparicio T, Chétiveaux M, Magot T, Aggerbeck LP, Samson-Bouma ME, Krempf M
Arterioscler Thromb Vasc Biol 2012 Jun;32(6):1520-5. Epub 2012 Mar 22 doi: 10.1161/ATVBAHA.112.245076. PMID: 22441101

Prognosis

Mouzaki M, Vresk L, Gonska T
Gastroenterology 2014 Apr;146(4):912, 1137-8. Epub 2014 Feb 19 doi: 10.1053/j.gastro.2013.11.035. PMID: 24560855
Magnolo L, Najah M, Fancello T, Di Leo E, Pinotti E, Brini I, Gueddiche NM, Calandra S, Slimene NM, Tarugi P
Gene 2013 Jan 1;512(1):28-34. Epub 2012 Oct 6 doi: 10.1016/j.gene.2012.09.117. PMID: 23043934
Silvain M, Bligny D, Aparicio T, Laforêt P, Grodet A, Peretti N, Ménard D, Djouadi F, Jardel C, Bégué JM, Walker F, Schmitz J, Lachaux A, Aggerbeck LP, Samson-Bouma ME
Clin Genet 2008 Dec;74(6):546-52. Epub 2008 Sep 11 doi: 10.1111/j.1399-0004.2008.01069.x. PMID: 18786134

Clinical prediction guides

Mouzaki M, Vresk L, Gonska T
Gastroenterology 2014 Apr;146(4):912, 1137-8. Epub 2014 Feb 19 doi: 10.1053/j.gastro.2013.11.035. PMID: 24560855
Magnolo L, Najah M, Fancello T, Di Leo E, Pinotti E, Brini I, Gueddiche NM, Calandra S, Slimene NM, Tarugi P
Gene 2013 Jan 1;512(1):28-34. Epub 2012 Oct 6 doi: 10.1016/j.gene.2012.09.117. PMID: 23043934
Ouguerram K, Zaïr Y, Kasbi-Chadli F, Nazih H, Bligny D, Schmitz J, Aparicio T, Chétiveaux M, Magot T, Aggerbeck LP, Samson-Bouma ME, Krempf M
Arterioscler Thromb Vasc Biol 2012 Jun;32(6):1520-5. Epub 2012 Mar 22 doi: 10.1161/ATVBAHA.112.245076. PMID: 22441101
Peretti N, Roy CC, Sassolas A, Deslandres C, Drouin E, Rasquin A, Seidman E, Brochu P, Vohl MC, Labarge S, Bouvier R, Samson-Bouma ME, Charcosset M, Lachaux A, Levy E
Mol Genet Metab 2009 Jun;97(2):136-42. Epub 2009 Feb 20 doi: 10.1016/j.ymgme.2009.02.003. PMID: 19285442
Silvain M, Bligny D, Aparicio T, Laforêt P, Grodet A, Peretti N, Ménard D, Djouadi F, Jardel C, Bégué JM, Walker F, Schmitz J, Lachaux A, Aggerbeck LP, Samson-Bouma ME
Clin Genet 2008 Dec;74(6):546-52. Epub 2008 Sep 11 doi: 10.1111/j.1399-0004.2008.01069.x. PMID: 18786134

Recent systematic reviews

Peretti N, Sassolas A, Roy CC, Deslandres C, Charcosset M, Castagnetti J, Pugnet-Chardon L, Moulin P, Labarge S, Bouthillier L, Lachaux A, Levy E; Department of Nutrition-Hepatogastroenterology, Hôpital Femme Mère Enfant, Bron, Université Lyon 1.; Department of Pediatrics, CHU Sainte-Justine Research Center, Université de Montréal.
Orphanet J Rare Dis 2010 Sep 29;5:24. doi: 10.1186/1750-1172-5-24. PMID: 20920215Free PMC Article

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