eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| familial partial lipodystrophy | ||||
| Disease ID | 530 |
|---|---|
| Disease | familial partial lipodystrophy |
| Definition | Inherited conditions characterized by the partial loss of ADIPOSE TISSUE, either confined to the extremities with normal or increased fat deposits on the face, neck and trunk (type 1), or confined to the loss of SUBCUTANEOUS FAT from the limbs and trunk (type 2). Type 3 is associated with mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA. |
| Synonym | familial lipodystrophy of limbs and trunk familial lipodystrophy of limbs and/or trunk familial partial lipodystrophies familial partial lipodystrophy (disorder) kobberling-dunnigan syndrome koberling dunnigan syndrome koberling-dunnigan syndrome lipodystrophies, familial partial lipodystrophy, familial partial lipodystrophy, familial partial [disease/finding] partial lipodystrophies, familial partial lipodystrophy, familial |
| Orphanet | |
| DOID | |
| UMLS | C0271694 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:32) 51099 | ABHD5 | 1.572 | DISEASES 10555 | AGPAT2 | 4.731 | DISEASES 208 | AKT2 | 2.942 | DISEASES 270 | AMPD1 | 2.775 | DISEASES 27329 | ANGPTL3 | 1.698 | DISEASES 26580 | BSCL2 | 4.527 | DISEASES 11132 | CAPN10 | 1.144 | DISEASES 825 | CAPN3 | 1.175 | DISEASES 857 | CAV1 | 2.443 | DISEASES 63924 | CIDEC | 4.055 | DISEASES 1382 | CRABP2 | 1.522 | DISEASES 1734 | DIO2 | 1.375 | DISEASES 1735 | DIO3 | 1.894 | DISEASES 196385 | DNAH10 | 3.826 | DISEASES 2010 | EMD | 5.127 | DISEASES 5167 | ENPP1 | 1.06 | DISEASES 8087 | FXR1 | 1.842 | DISEASES 23463 | ICMT | 1.988 | DISEASES 84456 | L3MBTL3 | 3.061 | DISEASES 4000 | LMNA | 7.704 | DISEASES 84823 | LMNB2 | 4.126 | DISEASES 57591 | MKL1 | 1.387 | DISEASES 7101 | NR2E1 | 2.504 | DISEASES 5498 | PPOX | 1.486 | DISEASES 5696 | PSMB8 | 2.253 | DISEASES 284119 | PTRF | 2.75 | DISEASES 6258 | RXRG | 2.105 | DISEASES 6720 | SREBF1 | 2.912 | DISEASES 7341 | SUMO1 | 1.15 | DISEASES 7068 | THRB | 1.915 | DISEASES 10587 | TXNRD2 | 1.257 | DISEASES 10269 | ZMPSTE24 | 4.62 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 530 |
|---|---|
| Disease | familial partial lipodystrophy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 530 |
|---|---|
| Disease | familial partial lipodystrophy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:21) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs11575937 | 14597414 | 4000 | LMNA | umls:C0271694 | BeFree | Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription. | 0.157432691 | 2003 | LMNA | 1 | 156136985 | G | A,T |
| rs11575937 | 14597414 | 2010 | EMD | umls:C0271694 | BeFree | Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription. | 0.000271442 | 2003 | LMNA | 1 | 156136985 | G | A,T |
| rs11575937 | 10587585 | 4000 | LMNA | umls:C0271694 | BeFree | Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. | 0.157432691 | 2000 | LMNA | 1 | 156136985 | G | A,T |
| rs11575937 | 23313286 | 4000 | LMNA | umls:C0271694 | BeFree | We describe the first cases of AR-EDMD and autosomal dominant familial partial lipodystrophy (FPLD) in the Hutterite population resulting from homozygous or heterozygous R482Q mutations in the lamin A/C gene (LMNA). | 0.157432691 | 2013 | LMNA | 1 | 156136985 | G | A,T |
| rs11575937 | 18728124 | 4000 | LMNA | umls:C0271694 | BeFree | Both sisters were found to be heterozygous for the R482Q mutation in the lamin A/C gene (LMNA) gene, establishing the definitive diagnosis as Dunnigan-type familial partial lipodystrophy complicated by severe insulin resistance and secondary PCOS. | 0.157432691 | 2008 | LMNA | 1 | 156136985 | G | A,T |
| rs267607545 | 15748902 | 4000 | LMNA | umls:C0271694 | BeFree | In search of a structural cause for the variety of inherited diseases caused by A-type lamin mutations, we have studied the molecular organization of GFP-tagged lamin A and lamin C mutants R453W and R386K, found in Emery-Dreifuss muscular dystrophy (EDMD), and lamin A and lamin C mutant R482W, found in patients with Dunnigan-type familial partial lipodystrophy (FPLD). | 0.157432691 | 2005 | LMNA | 1 | 156136121 | G | A,T |
| rs28928902 | 18041775 | 4000 | LMNA | umls:C0271694 | BeFree | The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy. | 0.157432691 | 2007 | LMNA | 1 | 156136951 | C | G,T |
| rs57747780 | 11525883 | 4000 | LMNA | umls:C0271694 | BeFree | Gene analysis of the proband revealed Tyr481His mutation in the exon 8 of lamin A/C (LMNA) gene which is adjacent to the codon mutated in reported cases of familial partial lipodystrophy. | 0.157432691 | 2001 | LMNA | 1 | 156136981 | T | C |
| rs57830985 | 11078466 | 4000 | LMNA | umls:C0271694 | BeFree | Although FPLD mutations are predominantly localized in exon 8 of LMNA, the finding of a novel mutation at codon 584, together with the R582H heterozygous substitution recently described, confirms that the C-terminal region specific to the lamin A isoform is a second susceptibility region for mutations in FPLD. | 0.157432691 | 2000 | LMNA | 1 | 156138534 | G | A |
| rs57920071 | 21993218 | 4000 | LMNA | umls:C0271694 | BeFree | In addition, the tail regions of A-type lamin variants that occur in Dunnigan-type familial partial lipodystrophy of (R482W) and Hutchison Gilford progeria syndrome (∆607-656) bind to the SREBP1 polypeptide in vitro, and the corresponding FLAG-tagged full-length lamin variants co-immunoprecipitate the SREBP1 polypeptide in cells. | 0.157432691 | 2011 | LMNA | 1 | 156136984 | C | T |
| rs57920071 | 25524705 | 4000 | LMNA | umls:C0271694 | BeFree | Dunnigan type familial partial lipodystrophy (FPLD2; OMIM | |||||||
| 151660) is caused in most cases by the A-type lamin R482W mutation. | 0.157432691 | 2016 | LMNA | 1 | 156136984 | C | T | ||||||
| rs57920071 | 21993218 | 6720 | SREBF1 | umls:C0271694 | BeFree | In addition, the tail regions of A-type lamin variants that occur in Dunnigan-type familial partial lipodystrophy of (R482W) and Hutchison Gilford progeria syndrome (∆607-656) bind to the SREBP1 polypeptide in vitro, and the corresponding FLAG-tagged full-length lamin variants co-immunoprecipitate the SREBP1 polypeptide in cells. | 0.000814326 | 2011 | LMNA | 1 | 156136984 | C | T |
| rs57920071 | 12669268 | 4000 | LMNA | umls:C0271694 | BeFree | Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation. | 0.157432691 | 2003 | LMNA | 1 | 156136984 | C | T |
| rs57920071 | 11792810 | 4000 | LMNA | umls:C0271694 | BeFree | By contrast, lamin A and C molecules harboring a point mutation (R482W), which gives rise to a dominant form of familial partial lipodystrophy, behave in a manner that is indistinguishable from wild-type lamins A and C, at least with respect to targeting and assembly within the nuclear lamina. | 0.157432691 | 2001 | LMNA | 1 | 156136984 | C | T |
| rs57920071 | 15748902 | 4000 | LMNA | umls:C0271694 | BeFree | In search of a structural cause for the variety of inherited diseases caused by A-type lamin mutations, we have studied the molecular organization of GFP-tagged lamin A and lamin C mutants R453W and R386K, found in Emery-Dreifuss muscular dystrophy (EDMD), and lamin A and lamin C mutant R482W, found in patients with Dunnigan-type familial partial lipodystrophy (FPLD). | 0.157432691 | 2005 | LMNA | 1 | 156136984 | C | T |
| rs57920071 | 19574635 | 4000 | LMNA | umls:C0271694 | BeFree | Structure of the lamin A/C R482W mutant responsible for dominant familial partial lipodystrophy (FPLD). | 0.157432691 | 2009 | LMNA | 1 | 156136984 | C | T |
| rs57920071 | 12832318 | 4000 | LMNA | umls:C0271694 | BeFree | Twenty-six subjects (9.7%) were positive for a beta-cell antibody, one subject had familial partial lipodystrophy and the lamin A/C mutation R482W, and two subjects had the mitochondrial mutation A3243G. | 0.157432691 | 2003 | LMNA | 1 | 156136984 | C | T |
| rs58932704 | 15748902 | 4000 | LMNA | umls:C0271694 | BeFree | In search of a structural cause for the variety of inherited diseases caused by A-type lamin mutations, we have studied the molecular organization of GFP-tagged lamin A and lamin C mutants R453W and R386K, found in Emery-Dreifuss muscular dystrophy (EDMD), and lamin A and lamin C mutant R482W, found in patients with Dunnigan-type familial partial lipodystrophy (FPLD). | 0.157432691 | 2005 | LMNA | 1 | 156136413 | C | T |
| rs72551363 | 25004973 | 5468 | PPARG | umls:C0271694 | BeFree | Structural basis of the transactivation deficiency of the human PPARγ F360L mutant associated with familial partial lipodystrophy. | 0.12706742 | 2014 | PPARG | 3 | 12417048 | T | A |
| rs72551363 | 12453919 | 5468 | PPARG | umls:C0271694 | BeFree | PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. | 0.12706742 | 2002 | PPARG | 3 | 12417048 | T | A |
| rs72551364 | 17312272 | 5468 | PPARG | umls:C0271694 | BeFree | Impaired peroxisome proliferator-activated receptor gamma function through mutation of a conserved salt bridge (R425C) in familial partial lipodystrophy. | 0.12706742 | 2007 | 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.) |
| Disease ID | 530 |
|---|---|
| Disease | familial partial lipodystrophy |
| Case | (Waiting for update.) |