Chylomicron retention disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HYPOBETALIPOPROTEINEMIA WITH ACCUMULATION OF APOLIPOPROTEIN B-LIKE PROTEIN IN INTESTINAL CELLS LIPID TRANSPORT DEFECT OF INTESTINE CRD CMRD ANDD anderson disease |
| Number of Symptoms | 26 |
| OrphanetNr: | 71 |
| OMIM Id: |
246700
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| ICD-10: |
E78.6 |
| UMLs: |
C0795956 |
| MeSH: |
C535460 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Infancy Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic intestinal disease due to fat malabsorption
-Rare genetic disease Hypobetalipoproteinemia -Rare endocrine disease -Rare genetic disease Intestinal disease due to fat malabsorption -Rare gastroenterologic disease |
Symptom Information:
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(HPO:0000478) | Abnormality of the eye | 126 / 7739 | ||||
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(HPO:0001315) | Reduced tendon reflexes | 160 / 7739 | ||||
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(HPO:0009830) | Peripheral neuropathy | 206 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0002495) | Impaired vibratory sensation | 26 / 7739 | ||||
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(HPO:0004395) | Malnutrition | 12 / 7739 | ||||
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(HPO:0002570) | Steatorrhea | 31 / 7739 | ||||
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(HPO:0002013) | Vomiting | 191 / 7739 | ||||
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(HPO:0002014) | Diarrhea | 225 / 7739 | ||||
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(HPO:0002630) | Fat malabsorption | 11 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0001510) | Growth delay | 295 / 7739 | ||||
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(HPO:0001871) | Abnormality of blood and blood-forming tissues | 37 / 7739 | ||||
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(HPO:0003146) | Hypocholesterolemia | 9 / 7739 | ||||
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(HPO:0003073) | Hypoalbuminemia | 40 / 7739 | ||||
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(HPO:0003563) | Hypobetalipoproteinemia | 9 / 7739 | ||||
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(OMIM) | Severe diarrhea | 1 / 7739 | ||||
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(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Neurologic deficits may occur secondarily to malabsorption | 1 / 7739 | ||||
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(OMIM) | Absence of chylomicrons in lymph and plasma | 1 / 7739 | ||||
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(OMIM) | Jejunal endoscopy shows white epithelium | 1 / 7739 | ||||
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(OMIM) | Small bowel enterocytes accumulate lipid droplets in membrane-bound compartments or in the cytoplasm | 1 / 7739 | ||||
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(OMIM) | Defect in chylomicron secretion | 1 / 7739 | ||||
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(OMIM) | Normal serum triglycerides | 1 / 7739 | ||||
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(OMIM) | Deficiency of fat-soluble vitamins | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) | Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy (Dannoura et al., 1999). |
| Clinical Description OMIM |
Anderson et al. (1961), Lamy et al. (1967) and Silverberg et al. (1968) described infants with severe steatorrhea. An intestinal defect in lipid transport and a failure of chylomicron formation was suggested, similar to that observed in abetalipoproteinemia ... |
| Molecular genetics OMIM |
- Mutations in the SAR1B Gene Jones et al. (2003) identified a region of apparent homozygosity on chromosome 5q31.1 that segregated with affected status in 4 families with CMRD. In 10 affected individuals from 7 families ... |