ORPHA:75234
Cholesteryl ester storage disease
Synonyms: Cholesterol ester storage disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cholesteryl ester storage disease | Cholesterol ester storage disease |
| fr | Maladie de stockage des esters du cholestérol | Maladie de surcharge en cholestérol estérifié |
| de | Cholesterinester-Speicherkrankheit | |
| es | Enfermedad por almacenamiento de ésteres de colesterol | Enfermedad de acumulación de colesterol éster |
| it | Malattia da accumulo degli esteri del colesterolo | |
| nl | Cholesterylesterstapelingsziekte | Cholesterolesterstapelingsziekte |
| pt | Doença de armazenamento de ésteres de colesterol | |
| pl | Choroba spichrzania estrów cholesterolu | Choroba spichrzania estrów cholesterolu |
| cs | Nemoc ze střádání cholesteryl esteru | Nemoc ze střádání esteru cholesterolu |
| uk | Хвороба накопичення ефірів холестерину | Хвороба накопичення ефірів холестерину |
| zh | 胆固醇酯贮积病 | 胆固醇酯贮积病 |
| tr | Kolesteril ester depo hastalığı | Kolesterol ester depo hastalığı |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 278000 | E | validated | |
| ICD-10 | E75.5 | NTBT | attributed | validated |
| ICD-11 | 5C56.0Y | NTBT | index | validated |
| MONDO | 0019149 | E | validated | |
| MeSH | D015217 | E | validated | |
| UMLS | C0008384 | E | validated | |
| GARD | 12099 | 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 (1):
- ORPHA:275761Lysosomal acid lipase deficiency
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare endocrine diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LIPA | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6617 | ENSG00000107798 | 613497 | 10q23.31 | lipase A, lysosomal acid type | 22227072[PMID]_26225414[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.5 / 100 000 | Germany | Value and class | Validated | 17634524[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.8 / 100 000 | Specific population | Value and class | Validated | 23424026[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002240 | Hepatomegaly | |
| Frequent (79-30%) | ||
| HP:0002634 | Arteriosclerosis | |
| HP:0002014 | Diarrhea | |
| HP:0001399 | Hepatic failure | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0002017 | Nausea and vomiting | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0010512 | Adrenal calcification | |
| HP:0001394 | Cirrhosis | |
| HP:0002040 | Esophageal varix | |
| HP:0000952 | Jaundice | |
| HP:0000989 | Pruritus | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 25852113[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/75234
- This record as JSON: /data/d/75234.json