eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| lipodystrophy | ||||
| Disease ID | 697 |
|---|---|
| Disease | lipodystrophy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:8) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) C0242339 | dyslipidemia | 3 C0021655 | insulin resistance syndrome | 1 C2711227 | hepatic steatosis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:29) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs11575937 | 23313286 | 4000 | LMNA | umls:C0023787 | BeFree | Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. | 0.026108077 | 2013 | LMNA | 1 | 156136985 | G | A,T |
| rs11575937 | 10810087 | 4000 | LMNA | umls:C0023787 | BeFree | Thus, LMNA R482Q was associated with lipodystrophy, hyperinsulinemia, dyslipidemia, diabetes, and hypertension. | 0.026108077 | 2000 | LMNA | 1 | 156136985 | G | A,T |
| rs11575937 | 10999845 | 4000 | LMNA | umls:C0023787 | BeFree | The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) aberrant lamin A, and not lamin C, is likely to underlie FPLD, as R584H occurs within LMNA sequence that is specific for lamin A; 3) the V440M mutation may not cause lipodystrophy on its own; 4) compound heterozygosity for V440M and R482Q is associated with a relatively more severe FPLD phenotype, but not with complete lipodystrophy; and 5) variation in the severity of the phenotype might be related to environmental factors. | 0.026108077 | 2000 | LMNA | 1 | 156136985 | G | A,T |
| rs121909244 | 20724579 | 5468 | PPARG | umls:C0023787 | BeFree | The dominant-negative P467L mutation in peroxisome proliferator activated receptor-γ (PPARγ) was identified in insulin-resistant patients with hyperglycemia and lipodystrophy. | 0.00916301 | 2010 | PPARG | 3 | 12434111 | C | T |
| rs121909244 | 20724579 | 3630 | INS | umls:C0023787 | BeFree | The dominant-negative P467L mutation in peroxisome proliferator activated receptor-γ (PPARγ) was identified in insulin-resistant patients with hyperglycemia and lipodystrophy. | 0.002985861 | 2010 | PPARG | 3 | 12434111 | C | T |
| rs121909244 | 15711581 | 5498 | PPOX | umls:C0023787 | BeFree | Other reported FPLD3 patients with mutant PPARgamma were ascertained either directly based on a clinical diagnosis of lipodystrophy (R425C mutation), or based on insulin resistance with subsequent demonstration of lipodystrophy (V290M and P467L mutations). | 0.000271442 | 2005 | PPARG | 3 | 12434111 | C | T |
| rs121909244 | 15711581 | 5468 | PPARG | umls:C0023787 | BeFree | Other reported FPLD3 patients with mutant PPARgamma were ascertained either directly based on a clinical diagnosis of lipodystrophy (R425C mutation), or based on insulin resistance with subsequent demonstration of lipodystrophy (V290M and P467L mutations). | 0.00916301 | 2005 | PPARG | 3 | 12434111 | C | T |
| rs121912493 | 10999845 | 4000 | LMNA | umls:C0023787 | BeFree | The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) aberrant lamin A, and not lamin C, is likely to underlie FPLD, as R584H occurs within LMNA sequence that is specific for lamin A; 3) the V440M mutation may not cause lipodystrophy on its own; 4) compound heterozygosity for V440M and R482Q is associated with a relatively more severe FPLD phenotype, but not with complete lipodystrophy; and 5) variation in the severity of the phenotype might be related to environmental factors. | 0.026108077 | 2000 | LMNA | 1 | 156136374 | G | A |
| rs1800206 | 21877956 | 5465 | PPARA | umls:C0023787 | BeFree | The rare g allele for L162V was found in 15% of patients free of any sign of lipodystrophy and 8% with at least one sign of lipodystrophy (p=0.04) and the rare t allele for H449H was found in 14% of patients free of any sign of lipodystrophy and 23% of patients with at least one sign of lipodystrophy (p=0.05). | 0.000542884 | 2012 | PPARA | 22 | 46218377 | C | G |
| rs1801282 | 19534662 | 5468 | PPARG | umls:C0023787 | BeFree | PPARgamma Pro12Ala polymorphism in HIV-1-infected patients with HAART-related lipodystrophy. | 0.00916301 | 2009 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 25157153 | 5468 | PPARG | umls:C0023787 | BeFree | In rare families, loss-of-function (LOF) mutations in PPARG are known to cosegregate with lipodystrophy and insulin resistance; in the general population, the common P12A variant is associated with a decreased risk of type 2 diabetes (T2D). | 0.00916301 | 2015 | PPARG | 3 | 12351626 | C | G |
| rs1805192 | 25157153 | 5468 | PPARG | umls:C0023787 | BeFree | In rare families, loss-of-function (LOF) mutations in PPARG are known to cosegregate with lipodystrophy and insulin resistance; in the general population, the common P12A variant is associated with a decreased risk of type 2 diabetes (T2D). | 0.00916301 | 2015 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 19534662 | 5468 | PPARG | umls:C0023787 | BeFree | PPARgamma Pro12Ala polymorphism in HIV-1-infected patients with HAART-related lipodystrophy. | 0.00916301 | 2009 | PPARG | 3 | 12379739 | C | G |
| rs2813544 | 22011627 | 2099 | ESR1 | umls:C0023787 | BeFree | Moreover, the ESR1 gene (rs2813544) presented significant sex-specific associations with anthropometric variables, and the ESR2 gene (rs3020450) was associated with an increased risk of developing lipoatrophy. | 0.000271442 | 2012 | NA | 6 | 152104447 | A | G |
| rs2813544 | 22011627 | 2100 | ESR2 | umls:C1280433 | BeFree | Moreover, the ESR1 gene (rs2813544) presented significant sex-specific associations with anthropometric variables, and the ESR2 gene (rs3020450) was associated with an increased risk of developing lipoatrophy. | 0.000271442 | 2012 | NA | 6 | 152104447 | A | G |
| rs2813544 | 22011627 | 2099 | ESR1 | umls:C1280433 | BeFree | Moreover, the ESR1 gene (rs2813544) presented significant sex-specific associations with anthropometric variables, and the ESR2 gene (rs3020450) was associated with an increased risk of developing lipoatrophy. | 0.000271442 | 2012 | NA | 6 | 152104447 | A | G |
| rs2813544 | 22011627 | 2100 | ESR2 | umls:C0023787 | BeFree | Moreover, the ESR1 gene (rs2813544) presented significant sex-specific associations with anthropometric variables, and the ESR2 gene (rs3020450) was associated with an increased risk of developing lipoatrophy. | 0.000271442 | 2012 | NA | 6 | 152104447 | A | G |
| rs3020450 | 22011627 | 2100 | ESR2 | umls:C1280433 | BeFree | Moreover, the ESR1 gene (rs2813544) presented significant sex-specific associations with anthropometric variables, and the ESR2 gene (rs3020450) was associated with an increased risk of developing lipoatrophy. | 0.000271442 | 2012 | ESR2 | 14 | 64301584 | C | T,A |
| rs3020450 | 22011627 | 2099 | ESR1 | umls:C1280433 | BeFree | Moreover, the ESR1 gene (rs2813544) presented significant sex-specific associations with anthropometric variables, and the ESR2 gene (rs3020450) was associated with an increased risk of developing lipoatrophy. | 0.000271442 | 2012 | ESR2 | 14 | 64301584 | C | T,A |
| rs3020450 | 22011627 | 2100 | ESR2 | umls:C0023787 | BeFree | Moreover, the ESR1 gene (rs2813544) presented significant sex-specific associations with anthropometric variables, and the ESR2 gene (rs3020450) was associated with an increased risk of developing lipoatrophy. | 0.000271442 | 2012 | ESR2 | 14 | 64301584 | C | T,A |
| rs3020450 | 22011627 | 2099 | ESR1 | umls:C0023787 | BeFree | Moreover, the ESR1 gene (rs2813544) presented significant sex-specific associations with anthropometric variables, and the ESR2 gene (rs3020450) was associated with an increased risk of developing lipoatrophy. | 0.000271442 | 2012 | ESR2 | 14 | 64301584 | C | T,A |
| rs56657623 | 10999845 | 4000 | LMNA | umls:C0023787 | BeFree | The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) aberrant lamin A, and not lamin C, is likely to underlie FPLD, as R584H occurs within LMNA sequence that is specific for lamin A; 3) the V440M mutation may not cause lipodystrophy on its own; 4) compound heterozygosity for V440M and R482Q is associated with a relatively more severe FPLD phenotype, but not with complete lipodystrophy; and 5) variation in the severity of the phenotype might be related to environmental factors. | 0.026108077 | 2000 | LMNA | 1 | 156138540 | G | A |
| rs57077886 | 19169477 | 4000 | LMNA | umls:C1280433 | BeFree | Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation. | 0.001357209 | 2008 | LMNA | 1 | 156114947 | C | T |
| rs57077886 | 19169477 | 4000 | LMNA | umls:C0023787 | BeFree | Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation. | 0.026108077 | 2008 | LMNA | 1 | 156114947 | C | T |
| rs57520892 | 12788894 | 4000 | LMNA | umls:C0023787 | BeFree | Affected patients from two pedigrees with type A lipodystrophy had the homozygous R527H mutation in LMNA. | 0.026108077 | 2003 | LMNA | 1 | 156137204 | G | A,C |
| rs72551362 | 15711581 | 5468 | PPARG | umls:C0023787 | BeFree | Other reported FPLD3 patients with mutant PPARgamma were ascertained either directly based on a clinical diagnosis of lipodystrophy (R425C mutation), or based on insulin resistance with subsequent demonstration of lipodystrophy (V290M and P467L mutations). | 0.00916301 | 2005 | PPARG | 3 | 12416836 | G | A |
| rs72551362 | 15711581 | 5498 | PPOX | umls:C0023787 | BeFree | Other reported FPLD3 patients with mutant PPARgamma were ascertained either directly based on a clinical diagnosis of lipodystrophy (R425C mutation), or based on insulin resistance with subsequent demonstration of lipodystrophy (V290M and P467L mutations). | 0.000271442 | 2005 | PPARG | 3 | 12416836 | G | A |
| rs72551364 | 15711581 | 5498 | PPOX | umls:C0023787 | BeFree | Other reported FPLD3 patients with mutant PPARgamma were ascertained either directly based on a clinical diagnosis of lipodystrophy (R425C mutation), or based on insulin resistance with subsequent demonstration of lipodystrophy (V290M and P467L mutations). | 0.000271442 | 2005 | PPARG | 3 | 12433900 | C | T |
| rs72551364 | 15711581 | 5468 | PPARG | umls:C0023787 | BeFree | Other reported FPLD3 patients with mutant PPARgamma were ascertained either directly based on a clinical diagnosis of lipodystrophy (R425C mutation), or based on insulin resistance with subsequent demonstration of lipodystrophy (V290M and P467L mutations). | 0.00916301 | 2005 | PPARG | 3 | 12433900 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 697 |
|---|---|
| Disease | lipodystrophy |
| Case | (Waiting for update.) |