PedAM
Pediatric Disease Annotations & Medicines
| lipodystrophy | ||||
| Disease ID | 264 |
|---|---|
| Disease | lipodystrophy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:8) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) C0242339 | dyslipidemia | 4 C2711227 | hepatic steatosis | 2 C0021655 | insulin resistance syndrome | 1 |
Manually Genotype(Total Text Mining 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) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:2) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0023787 | ritonavir | D019438 | - | lipodystrophy | MESH:D008060 | marker/mechanism | 16269669 | ||
| C0023787 | zidovudine | D015215 | 30516-87-1 | lipodystrophy | MESH:D008060 | marker/mechanism | 22293411 | ||
FDA approved drug and dosage information(Total Drugs:10) | ||||||||
|---|---|---|---|---|---|---|---|---|
| DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
| MESH:D008060 | norvir | ritonavir | 80MG/ML | SOLUTION;ORAL | Prescription | None | Yes | Yes |
| MESH:D008060 | norvir | ritonavir | 100MG | CAPSULE;ORAL | Discontinued | None | No | No |
| MESH:D008060 | norvir | ritonavir | 100MG | CAPSULE;ORAL | Prescription | None | Yes | Yes |
| MESH:D008060 | norvir | ritonavir | 100MG | TABLET;ORAL | Prescription | AB | Yes | Yes |
| MESH:D008060 | retrovir | zidovudine | 100MG | CAPSULE;ORAL | Prescription | AB | Yes | Yes |
| MESH:D008060 | retrovir | zidovudine | 50MG/5ML | SYRUP;ORAL | Prescription | AA | Yes | Yes |
| MESH:D008060 | retrovir | zidovudine | 10MG/ML | INJECTABLE;INJECTION | Prescription | AP | Yes | Yes |
| MESH:D008060 | retrovir | zidovudine | 200MG | TABLET;ORAL | Discontinued | None | No | No |
| MESH:D008060 | zidovudine | zidovudine | 60MG | TABLET;ORAL | Discontinued | None | No | No |
| MESH:D008060 | zidovudine | zidovudine | 60MG | TABLET;ORAL | Discontinued | None | No | No |
FDA labeling changes(Total Drugs:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DiseaseID | Pediatric_Labeling_Date | Trade_Name | Generic_Name_or_Proper_Name | Indications Studied | Label Changes Summary | Product Labeling | BPCA(B) | PREA(P) | BPCA(B) and PREA(P) | Pediatric Rule (R) | Sponsor | Pediatric Exclusivity Granted Date | NNPS |
| MESH:D008060 | 6/10/2005 | norvir | ritonavir | Treatment of HIV-infection in combination with other antiretroviral agents | Extended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parameters | Labeling | B | - | - | - | Abbott | 06/14/2005 | FALSE' |
| MESH:D008060 | 6/10/2005 | norvir | ritonavir | Treatment of HIV-infection in combination with other antiretroviral agents | Extended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parameters | Labeling | B | - | - | - | Abbott | 06/14/2005 | FALSE' |
| MESH:D008060 | 6/10/2005 | norvir | ritonavir | Treatment of HIV-infection in combination with other antiretroviral agents | Extended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parameters | Labeling | B | - | - | - | Abbott | 06/14/2005 | FALSE' |
| MESH:D008060 | 6/10/2005 | norvir | ritonavir | Treatment of HIV-infection in combination with other antiretroviral agents | Extended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parameters | Labeling | B | - | - | - | Abbott | 06/14/2005 | FALSE' |
| MESH:D008060 | 6/11/2009 | retrovir | zidovudine | Treatment of HIV-1 infection in combination with other antiretroviral agents | Provided dosing recommendations for patients 4 weeks to < 6 weeks of age and weighing 4 kg to < 9 kg | Labeling | - | P | - | - | GlaxoSmithKline | - | TRUE' |
| MESH:D008060 | 6/11/2009 | retrovir | zidovudine | Treatment of HIV-1 infection in combination with other antiretroviral agents | Provided dosing recommendations for patients 4 weeks to < 6 weeks of age and weighing 4 kg to < 9 kg | Labeling | - | P | - | - | GlaxoSmithKline | - | TRUE' |
| MESH:D008060 | 6/11/2009 | retrovir | zidovudine | Treatment of HIV-1 infection in combination with other antiretroviral agents | Provided dosing recommendations for patients 4 weeks to < 6 weeks of age and weighing 4 kg to < 9 kg | Labeling | - | P | - | - | GlaxoSmithKline | - | TRUE' |
| MESH:D008060 | 6/11/2009 | retrovir | zidovudine | Treatment of HIV-1 infection in combination with other antiretroviral agents | Provided dosing recommendations for patients 4 weeks to < 6 weeks of age and weighing 4 kg to < 9 kg | Labeling | - | P | - | - | GlaxoSmithKline | - | TRUE' |
| MESH:D008060 | 09/19/2008 | retrovir syrup, capsules and tablets | zidovudine | Used in combination with 18 other antiretroviral agents for the treatment of HIV-1 infection | Dosing and administration information provided to children 6 weeks to less than 18 years of age Macrocytosis was reported in the majority of pediatric patients receiving Retrovir 180 mg/m2 every 6 hours in open-label studies New dosing regimen | Labeling | - | P | - | - | GlaxoSmithKline | - | TRUE' |
| MESH:D008060 | 6/11/2009 | retrovir | zidovudine | Treatment of HIV-1 infection in combination with other antiretroviral agents | Provided dosing recommendations for patients 4 weeks to < 6 weeks of age and weighing 4 kg to < 9 kg | Labeling | - | P | - | - | GlaxoSmithKline | - | TRUE' |