Lipoprotein glomerulopathy
Synonyms: LPG
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare genetic renal disease characterized by the formation of intraglomerular lipoprotein thrombi due to lipid deposition in severely dilated glomerular capillaries. Laboratory examination reveals abnormal serum lipid profiles, in particular markedly elevated apolipoprotein E. Clinical manifestations include proteinuria or nephrotic syndrome with hypertension and potential progression to chronic renal failure. Systemic complications of dyslipidemia are not observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lipoprotein glomerulopathy | LPG |
| fr | Glomérulopathie lipoprotéinique | LPG · Glomérulopathie à lipoprotéines |
| de | Lipoprotein-Glomerulopathie | = en |
| es | Glomerulopatía por lipoproteínas | = en |
| it | Glomerulopatia da lipoproteine | = en |
| nl | Lipoproteïne-glomerulopathie | = en |
| pt | Glomerulopatia por lipoproteínas | |
| pl | Glomerulopatia lipoproteinowa | = en |
| cs | Lipoproteinová glomerulopatie | = en |
| uk | Ліпопротеїдна гломерулопатія | = en |
| zh | 脂蛋白肾小球病 | LPG病 |
| tr | Lipoprotein glomerülopati | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611771 | E | validated | |
| ICD-10 | N07.8 | NTBT | attributed | validated |
| ICD-11 | MF82 | E | specific | validated |
| MONDO | 0012725 | E | validated | |
| MeSH | C567089 | E | validated | |
| UMLS | C2673196 | 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 (3):
- ORPHA:183586Genetic glomerular disease
rare genetic diseases - ORPHA:93548Glomerular disease
rare renal diseases; rare transplant-related disorders - ORPHA:181437Rare syndromic dyslipidemia
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 |
|---|---|---|---|---|---|---|---|---|
| APOE | Disease-causing germline mutation(s) in | Assessed | HGNC:613 | ENSG00000130203 | 107741 | 19q13.32 | apolipoprotein E | 21464714[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24149835[PMID] |
| Cases/families | 150 cases | Worldwide | Case(s) | Validated | 24149835[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329481
- This record as JSON: /data/d/329481.json