ORPHA:275761
Lysosomal acid lipase deficiency
Synonyms: LAL deficiency · LALD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
A rare, progressive metabolic liver disease due to marked to complete lysosomal acid lipase deficiency and characterized by dyslipidemia and massive lipid accumulation leading to hepatomegaly and liver dysfunction, splenomegaly, accelerated atherosclerosis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lysosomal acid lipase deficiency | LAL deficiency · LALD |
| fr | Déficit en lipase acide lysosomale | Déficit en LAL |
| de | Lysosomale saure Lipase-Mangel | LAL-Mangel |
| es | Deficiencia de lipasa ácida lisosomal | Deficiencia de LAL |
| it | Deficit della lipasi acida lisosomiale | Deficit di LAL |
| nl | Deficiëntie van lysosomale zure lipase | LAL-deficiëntie |
| pt | Deficiência de lipase ácida lisossomal | |
| pl | Niedobór kwaśnej lipazy lizosomalnej | Niedobór LAL |
| cs | Deficit lyzozomální kyselé lipázy | Deficit LAL |
| uk | Дефіцит лізосомальної кислої ліпази | Дефіцит LAL · LALD |
| zh | 溶酶体酸性脂肪酶缺乏症 | LAL缺乏症 |
| tr | Lizozomal asit lipaz eksikliği | LAL eksikliği |
Definition in:
2
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 | 800449 | E | validated | |
| UMLS | C5574740 | E | validated | |
| GARD | 12097 | E | validated | |
| MedDRA | 10077267 | 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:79204Lipid storage disease
rare inborn errors of metabolism; rare genetic diseases; rare transplant-related disorders - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases - ORPHA:181437Rare syndromic dyslipidemia
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases
4
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| LIPA | ORPHA:75233Wolman disease | 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] |
| LIPA | ORPHA:75234Cholesteryl ester storage disease | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.27 / 100 000 | Czech Republic | Value and class | Validated | 20490927[PMID] |
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2015[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
49 annotations · validated 2016-03-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0002027 | Abdominal pain | |
| HP:0010512 | Adrenal calcification | |
| HP:0100543 | Cognitive impairment | |
| HP:0001410 | Decreased liver function | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0006583 | Fatal liver failure in infancy | |
| HP:0001399 | Hepatic failure | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0000952 | Jaundice | |
| HP:0001414 | Microvesicular hepatic steatosis | |
| HP:0002017 | Nausea and vomiting | |
| HP:0002570 | Steatorrhea | |
| HP:0001922 | Vacuolated lymphocytes | |
| HP:0000991 | Xanthomatosis | |
| Frequent (79-30%) | ||
| HP:0001677 | Coronaryartery atherosclerosis | |
| HP:0002014 | Diarrhea | |
| HP:0002040 | Esophageal varix | |
| HP:0004416 | Precocious atherosclerosis | |
| HP:0001297 | Stroke | |
| HP:0001824 | Weight loss | |
| HP:0001114 | Xanthelasma | |
| Occasional (29-5%) | ||
| HP:0012598 | Abnormal urine potassium concentration | |
| HP:0001941 | Acidosis | |
| HP:0001903 | Anemia | |
| HP:0001541 | Ascites | |
| HP:0004333 | Bone-marrow foam cells | |
| HP:0004326 | Cachexia | |
| HP:0001944 | Dehydration | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0002153 | Hyperkalemia | |
| HP:0012605 | Hypernatriuria | |
| HP:0001971 | Hypersplenism | |
| HP:0002902 | Hyponatremia | |
| HP:0002615 | Hypotension | |
| HP:0011106 | Hypovolemia | |
| HP:0004395 | Malnutrition | |
| HP:0008207 | Primary adrenal insufficiency | |
| HP:0000989 | Pruritus | |
| HP:0002361 | Psychomotor deterioration | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0000127 | Renal salt wasting | |
| HP:0002013 | Vomiting | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 3565483[PMID]_5787090[PMID]_3740103[PMID]_6478639[PMID]_5642714[PMID]_1516222[PMID]_142699714[PMID]_14008104[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/275761
- This record as JSON: /data/d/275761.json