ORPHA:412
Dysbetalipoproteinemia
Synonyms: Broad-beta disease · Familial dyslipidemia type 3 · HLP type 3 · Hyperlipidemia type 3 · Hyperlipoproteinemia type 3 · Remnant hyperlipoproteinemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Multigenic/multifactorial
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare combined hyperlipidemia (HLP type 3) characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of progressive atherosclerosis and premature cardiovascular disease.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dysbetalipoproteinemia | Broad-beta disease · Familial dyslipidemia type 3 · HLP type 3 · Hyperlipidemia type 3 · Hyperlipoproteinemia type 3 · Remnant hyperlipoproteinemia |
| fr | Dysbêtalipoprotéinémie | Dyslipidémie familiale de type 3 · Dyslipoprotéinémie à broad-bêta · HLP de type 3 · Hyperlipidémie de type 3 · Hyperlipoprotéinemie de type 3 |
| de | Dysbetalipoproteinämie | Broad-beta-Lipoproteinämie · Familiäre Dyslipidämie Typ 3 · HLP Typ 3 · Hyperlipidämie Typ 3 · Hyperlipoproteinämie Typ 3 · Remnant-Hyperlipidämie · Remnant-Krankheit |
| es | Disbetalipoproteinemia | Dislipidemia familiar tipo 3 · Enfermedad de beta ancha · HLP tipo 3 · Hiperlipidemia tipo 3 · Hiperlipoproteinemia remanente · Hiperlipoproteinemia tipo 3 |
| it | Disbetalipoproteinemia | Dislipidemia familiare tipo 3 · HLP, tipo 3 · Iperlipidemia, tipo 3 · Iperlipoproteinemia di Remnant · Iperlipoproteinemia, tipo 3 |
| nl | Dysbètalipoproteïnemie | Brede bètaband-ziekte · Familiale dyslipidemie type 3 · HLP type 3 · Hyperlipoproteïnemie type 3 · Restant-hyperlipoproteïnemie |
| pt | Disbetalipoproteinemia | Dislipidemia familiar tipo 3 · HLP tipo3 · Hiperlipidemia tipo 3 · Hiperlipoproteinemia tipo 3 |
| pl | Dysbetalipoproteinemia | Betalipoproteinemia szeroka · Choroba Remnanta · Dysbetalipoproteinemia rodzinna · Dyslipidemia typu 3 · Hiperlipidemia typu 3 · HLP typu 3 · Rodzinna hiperlipoproteinemia typu 3 |
| cs | Hyperlipoproteinémie, typ 3 | = en |
| uk | Дисбеталіпопротеїнемія | Хвороба широкої бета-лінійки · Сімейна дисліпідемія типу 3 · HLP тип 3 · Гіперліпідемія типу 3 · Гіперліпопротеїнемія типу 3 · Залишкова гіперліпопротеїнемія |
| zh | β脂蛋白异常 | 残粒性血脂蛋白过多症 |
| tr | Disbetalipoproteinemi | HLP tip 3 · Broad-beta hastalığı · Hiperlipidemi tip 3 · Hiperlipoproteinemi tip 3 · Ailesel dislipidemi tip 3 · Kalıntı hiperlipoproteinemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617347 | E | validated | |
| ICD-10 | E78.2 | NTBT | inclusion | validated |
| ICD-11 | 5C80.2 | NTBT | index | validated |
| MONDO | 0018473 | E | validated | |
| MeSH | D006952 | E | validated | |
| UMLS | C0020479 | E | validated | |
| GARD | 6703 | E | validated | |
| MedDRA | 10060751 | 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:181422Rare hyperlipidemia
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| APOE | Major susceptibility factor in | Assessed | HGNC:613 | ENSG00000130203 | 107741 | 19q13.32 | apolipoprotein E | 24405372[PMID]_21463987[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 7.8 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Worldwide | Value and class | Validated | 21354122[PMID]_24314366[PMID] |
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
26 annotations · validated 2024-03-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000951 | Abnormality of the skin | |
| HP:0003233 | Decreased HDL cholesterol concentration | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0003141 | Increased LDL cholesterol concentration | |
| Frequent (79-30%) | ||
| HP:0002635 | Atheromatosis | |
| HP:0001084 | Corneal arcus | |
| HP:0000819 | Diabetes mellitus | |
| HP:0001013 | Eruptive xanthomas | |
| HP:0001397 | Hepatic steatosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0000660 | Lipemia retinalis | |
| HP:0001513 | Obesity | |
| HP:0010874 | Tendon xanthomatosis | |
| HP:0031290 | Tuberous xanthoma | |
| HP:0001114 | Xanthelasma | |
| HP:0025530 | Xanthomas of the palmar creases | Pathognomonic sign |
| Occasional (29-5%) | ||
| HP:0004943 | Accelerated atherosclerosis | |
| HP:0001735 | Acute pancreatitis | |
| HP:0001681 | Angina pectoris | |
| HP:0012397 | Aortic atherosclerosis | |
| HP:0001997 | Gout | |
| HP:0000821 | Hypothyroidism | |
| HP:0004950 | Peripheral arterial stenosis | |
| HP:0005181 | Premature coronary artery atherosclerosis | |
| HP:0000799 | Renal steatosis | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 32255405[PMID]_25768710[PMID]_1531990[PMID]_1728471[PMID]_20452521[PMID]_8185134[PMID]_25111166[PMID]_26103610[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/412
- This record as JSON: /data/d/412.json