Lipoprotein glomerulopathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
LPG |
| Number of Symptoms | 4 |
| OrphanetNr: | 329481 |
| OMIM Id: |
611771
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Primary glomerular disease
-Rare genetic disease -Rare renal disease Rare syndromic dyslipidemia -Rare endocrine disease -Rare genetic disease |
Symptom Information:
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(HPO:0100820) | Glomerulopathy | 18077821 | IBIS | 46 / 7739 | ||
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(HPO:0001966) | Mesangial abnormality | 18077821 | IBIS | 1 / 7739 | ||
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(HPO:0000093) | Proteinuria | 18077821 | IBIS | 169 / 7739 | ||
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(HPO:0000083) | Renal insufficiency | 18077821 | IBIS | 232 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Lipoprotein glomerulopathy is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries (Saito et al., 2006). It mainly affects people of Japanese and Chinese origin; in these populations, it is ... |
| Clinical Description OMIM |
Lipoprotein glomerulopathy is characterized by abnormal lipoprotein deposition in the glomeruli, usually with lipoprotein thrombi distending and occluding the glomerular capillary lumina, a variable degree of mesangial proliferation, dysbetalipoproteinemia, and high levels of APOE and APOE2/3 phenotype in ... |
| Molecular genetics OMIM |
Oikawa et al. (1997) identified 3 Japanese patients with lipoprotein glomerulopathy who were heterozygous for an arg145-to-pro mutation in APOE (R145P; 107741.0032). The authors designated this variant 'APOE Sendai.' Matsunaga et al. (1999) reported a Japanese ... |