ORPHA:71
Chylomicron retention disease
Synonyms: Anderson disease · CMRD · CRD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chylomicron retention disease | Anderson disease · CMRD · CRD |
| fr | Maladie de rétention des chylomicrons | CMRD · CRD · MRC · Maladie d'Anderson |
| de | Chylomikronen-Retentions-Krankheit | Anderson-Krankheit · CMRD · CRD |
| es | Enfermedad de retención de quilomicrones | CMRD · CRD · Enfermedad de Anderson |
| it | Malattia da ritenzione dei chilomicroni | CMRD · CRD · Malattia di Anderson |
| nl | Chylomicronretentieziekte | CMRD · CRD · Ziekte van Anderson |
| pt | Doença de retenção dos quilomicrons | |
| pl | Zespół chylomikronemii | Choroba Andersona · CMRD · CRD |
| cs | Choroba z retence chylomikronů | Andersenova nemoc · CMRD · CRD |
| uk | Хвороба затримки хіломікронів | Хвороба Андерсона · CMRD · CRD |
| zh | 乳糜微粒潴留病 | Anderson病 |
| tr | Şilomikron tutulumu hastalığı | CRD · CMRD · Anderson hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 246700 | E | validated | |
| ICD-10 | E78.6 | NTBT | attributed | validated |
| ICD-11 | 5C81.1 | NTBT | index | validated |
| MONDO | 0009528 | E | validated | |
| MeSH | C535460 | E | validated | |
| UMLS | C0795956 | E | validated | |
| GARD | 9683 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:363306Genetic intestinal disease due to fat malabsorption
rare genetic diseases - ORPHA:31154Hypobetalipoproteinemia
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases - ORPHA:104005Intestinal disease due to fat malabsorption
rare gastroenterological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SAR1B | Disease-causing germline mutation(s) in | Assessed | HGNC:10535 | ENSG00000152700 | 607690 | 5q31.1 | secretion associated Ras related GTPase 1B | 21235735[PMID]_18786134[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 55 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
20 annotations · validated 2016-11-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002014 | Diarrhea | |
| HP:0003146 | Hypocholesterolemia | |
| Very frequent (99-80%) | ||
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002630 | Fat malabsorption | |
| HP:0000488 | Retinopathy | |
| HP:0002570 | Steatorrhea | |
| Frequent (79-30%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0100508 | Abnormality of vitamin metabolism | |
| HP:0001508 | Failure to thrive | |
| HP:0001510 | Growth delay | |
| HP:0006565 | Increased hepatocellular lipid droplets | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0001397 | Hepatic steatosis | |
| HP:0000505 | Visual impairment | |
| Very rare (<4-1%) | ||
| HP:0001927 | Acanthocytosis | |
| HP:0001284 | Areflexia | |
| HP:0010831 | Impaired proprioception | |
| HP:0003198 | Myopathy | |
| Excluded (0%) | ||
| HP:0002155 | Hypertriglyceridemia | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 20920215[PMID]_24560855[PMID]_2426307[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/71
- This record as JSON: /data/d/71.json