Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
Synonyms: Hyperlipidemia due to HL deficiency · Hyperlipidemia due to HTGL deficiency · Hyperlipidemia due to hepatic lipase deficiency · Hyperlipidemia due to hepatic triglyceride lipase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- No data available
- Status
- active
A rare hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperlipidemia due to hepatic triacylglycerol lipase deficiency | Hyperlipidemia due to HL deficiency · Hyperlipidemia due to HTGL deficiency · Hyperlipidemia due to hepatic lipase deficiency · Hyperlipidemia due to hepatic triglyceride lipase deficiency |
| fr | Hyperlipidémie par déficit en triglycéride lipase hépatique | Hyperlipidémie par déficit en lipase hépatique |
| de | Hyperlipidämie durch hepatischen Triglycerid-Lipase-Mangel | Hyperlipidämie durch HL-Mangel · Hyperlipidämie durch HTGL-Mangel · Hyperlipidämie durch hepatische Lipase-Mangel · Hyperlipidämie durch hepatischen Triacylglycerol-Lipase-Mangel |
| es | Hiperlipidemia por deficiencia de triacilglicerol lipasa hepática | Hiperlipidemia por deficiencia de LH · Hiperlipidemia por deficiencia de TLH · Hiperlipidemia por deficiencia de lipasa hepática · Hiperlipidemia por deficiencia de triglicérido lipasa hepática |
| it | Iperlipidemia da deficit di triglicerido-lipasi epatica | |
| nl | Hyperlipidemie door hepatische triacylglycerollipasedeficiëntie | Hyperlipidemie door HL-deficiëntie · Hyperlipidemie door HTGL-deficiëntie · Hyperlipidemie door hepatische lipasedeficiëntie · Hyperlipidemie door hepatische triglyceridelipasedeficiëntie |
| pt | Hiperlipidemia por deficiência de triacilglicerol lipase hepática | |
| pl | Hiperlipidemia z powodu niedoboru wątrobowej lipazy triglicerydowej | = en |
| cs | Hyperlipidémie způsobená deficitem jaterní triglyceridové lipázy | = en |
| uk | Гіперліпідемія через дефіцит печінкової триацилгліцеролліпази | Гіперліпідемія внаслідок дефіциту печінкової ліпази · Гіперліпідемія через дефіцит печінкової тригліцеридліпази · Гіперліпідемія внаслідок дефіциту ПЛ · Гіперліпідемія внаслідок дефіциту ПТГЛ |
| zh | 肝脂酶缺乏症 | 肝三酰甘油脂肪酶缺陷所致高脂血症 |
| tr | Hepatik triaçilgliserol lipaz eksikliğine bağlı hiperlipidemi | HL eksikliğine bağlı hiperlipidemi · HTGL eksikliğine bağlı hiperlipidemi · Karaciğer lipaz eksikliğine bağlı hiperlipidemi · Hepatik trigliserid lipaz eksikliğine bağlı hiperlipidemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614025 | E | validated | |
| ICD-10 | E78.4 | NTBT | attributed | validated |
| ICD-11 | 5C80.2 | NTBT | attributed | validated |
| MONDO | 0013533 | E | validated | |
| UMLS | C3151466 | E | validated | |
| GARD | 12864 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:181422Rare hyperlipidemia
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LIPC | Disease-causing germline mutation(s) in | Assessed | HGNC:6619 | ENSG00000166035 | 151670 | 15q21.3 | lipase C, hepatic type | 1301939[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
5 annotations · validated 2016-11-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002155 | Hypertriglyceridemia | |
| HP:0012184 | Increased HDL cholesterol concentration | |
| Very frequent (99-80%) | ||
| HP:0001013 | Eruptive xanthomas | |
| Frequent (79-30%) | ||
| HP:0001681 | Angina pectoris | |
| HP:0005181 | Premature coronary artery atherosclerosis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 1968704[PMID]_6961921[PMID]_1671786[PMID]_12777476[PMID]_22798447[PMID]_1933710[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/140905
- This record as JSON: /data/d/140905.json