ONTOLOGY REPORT - ANNOTATIONS


Term:lipodystrophy
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Accession:DOID:811 term browser browse the term
Definition:A collection of heterogenous conditions resulting from defective LIPID METABOLISM and characterized by ADIPOSE TISSUE atrophy. Often there is redistribution of body fat resulting in peripheral fat wasting and central adiposity. They include generalized, localized, congenital, and acquired lipodystrophy.
Synonyms:exact_synonym: Lipodystrophies
 primary_id: MESH:D008060;   RDO:0000971
For additional species annotation, visit the Alliance of Genome Resources.


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lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 JBrowse link 3 4,044,741 4,055,384 RGD:1598785
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 1 225,035,956 225,046,137 RGD:1600601
RGD:11554173
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:1581157
G Ebf1 EBF transcription factor 1 JBrowse link 10 23,654,849 24,051,627 RGD:13592920
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:10401088
G Insr insulin receptor JBrowse link 12 1,682,527 1,816,414 RGD:1302525
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:2306123
RGD:8554872
G Lmnb2 lamin B2 JBrowse link 7 11,657,870 11,676,936 RGD:13592920
G Lpin1 lipin 1 JBrowse link 6 41,796,214 41,905,149 RGD:13592920
G Parp2 poly (ADP-ribose) polymerase 2 JBrowse link 15 27,739,416 27,749,650 RGD:11554173
G Pold1 DNA polymerase delta 1, catalytic subunit JBrowse link 1 100,538,066 100,554,105 RGD:11554173
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:1601445
G Zmpste24 zinc metallopeptidase STE24 JBrowse link 5 139,982,404 140,015,541 RGD:10043099
RGD:11554173
congenital generalized lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 JBrowse link 3 4,044,741 4,055,384 RGD:10047097
RGD:11554173
RGD:8554872
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 1 225,035,956 225,046,137 RGD:8554872
RGD:11554173
congenital generalized lipodystrophy type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 JBrowse link 3 4,044,741 4,055,384 RGD:8554872
RGD:7240710
congenital generalized lipodystrophy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 1 225,035,956 225,046,137 RGD:8554872
RGD:7240710
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:13592920
congenital generalized lipodystrophy type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:7240710
RGD:8554872
congenital generalized lipodystrophy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cavin1 caveolae associated protein 1 JBrowse link 10 88,862,513 88,874,495 RGD:7240710
RGD:8554872
familial partial lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt2 AKT serine/threonine kinase 2 JBrowse link 1 84,400,939 84,451,223 RGD:11554173
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:11554173
G Cavin1 caveolae associated protein 1 JBrowse link 10 88,862,513 88,874,495 RGD:8554872
G Cidec cell death-inducing DFFA-like effector c JBrowse link 4 145,377,482 145,390,497 RGD:11554173
G Lipe lipase E, hormone sensitive type JBrowse link 1 82,248,031 82,266,727 RGD:11554173
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:11554173
RGD:8554872
RGD:12791019
G Plin1 perilipin 1 JBrowse link 1 141,458,907 141,470,927 RGD:11554173
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:11554173
RGD:8554872
G Zmpste24 zinc metallopeptidase STE24 JBrowse link 5 139,982,404 140,015,541 RGD:13592920
familial partial lipodystrophy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
RGD:7240710
familial partial lipodystrophy type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 1 225,035,956 225,046,137 RGD:8554872
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:8554872
RGD:7240710
familial partial lipodystrophy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plin1 perilipin 1 JBrowse link 1 141,458,907 141,470,927 RGD:8554872
RGD:7240710
familial partial lipodystrophy type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cidec cell death-inducing DFFA-like effector c JBrowse link 4 145,377,482 145,390,497 RGD:7240710
RGD:8554872
familial partial lipodystrophy type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipe lipase E, hormone sensitive type JBrowse link 1 82,248,031 82,266,727 RGD:8554872
RGD:7240710
HIV-Associated Lipodystrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:8694470
G Adrb3 adrenoceptor beta 3 JBrowse link 16 69,003,541 69,006,632 RGD:5684895
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:8655915
RGD:8655934
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:11554173
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:8549721
G Zmpste24 zinc metallopeptidase STE24 JBrowse link 5 139,982,404 140,015,541 RGD:11554173
JMP syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psma3 proteasome subunit alpha 3 JBrowse link 6 93,423,029 93,444,223 RGD:8554872
G Psmb8 proteasome subunit beta 8 JBrowse link 20 3,990,809 3,993,772 RGD:7240710
RGD:8554872
Keppen-Lubinsky Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj6 potassium voltage-gated channel subfamily J member 6 JBrowse link 11 35,011,007 35,262,362 RGD:7240710
RGD:8554872
lipoatrophic diabetes mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccr2 C-C motif chemokine receptor 2 RGD:8657358
G Insr insulin receptor JBrowse link 12 1,682,527 1,816,414 RGD:1302525
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:1580516
RGD:8554872
Lipodystrophy with Congenital Cataracts and Neurodegeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:7240710
RGD:8554872
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pold1 DNA polymerase delta 1, catalytic subunit JBrowse link 1 100,538,066 100,554,105 RGD:7240710
RGD:8554872
Mandibuloacral Dysplasia with Type A Lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:7240710
RGD:8554872
RGD:12791023
RGD:11554173
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:11554173
Mandibuloacral Dysplasia with Type B Lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zmpste24 zinc metallopeptidase STE24 JBrowse link 5 139,982,404 140,015,541 RGD:7240710
RGD:8554872
Marfan Lipodystrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
RGD:7240710
Nasu-Hakola disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trem2 triggering receptor expressed on myeloid cells 2 JBrowse link 9 14,611,541 14,618,076 RGD:8554872
G Tyrobp Tyro protein tyrosine kinase binding protein JBrowse link 1 88,875,370 88,879,305 RGD:7240710
RGD:8554872
partial lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmnb2 lamin B2 JBrowse link 7 11,657,870 11,676,936 RGD:8554872
RGD:7240710
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trem2 triggering receptor expressed on myeloid cells 2 JBrowse link 9 14,611,541 14,618,076 RGD:8554872
RGD:7240710
Progressive Encephalopathy, with or without Lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 1 225,035,956 225,046,137 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14919
    Nutritional and Metabolic Diseases 4263
      disease of metabolism 4263
        lipid metabolism disorder 726
          lipodystrophy 31
            HIV-Associated Lipodystrophy Syndrome 6
            JMP syndrome 2
            Keppen-Lubinsky Syndrome 1
            Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules 0
            Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
            Mandibuloacral Dysplasia with Type A Lipodystrophy 2
            Mandibuloacral Dysplasia with Type B Lipodystrophy 1
            Marfan Lipodystrophy Syndrome 1
            Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly + 2
            Progressive Encephalopathy, with or without Lipodystrophy 1
            complete generalized lipodystrophy + 5
            lipoatrophic diabetes mellitus + 3
            partial lipodystrophy + 11
Path 2
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      nervous system disease 9147
        sensory system disease 4264
          skin disease 2267
            Metabolic Skin Diseases 31
              lipodystrophy 31
                HIV-Associated Lipodystrophy Syndrome 6
                JMP syndrome 2
                Keppen-Lubinsky Syndrome 1
                Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules 0
                Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 1
                Mandibuloacral Dysplasia with Type A Lipodystrophy 2
                Mandibuloacral Dysplasia with Type B Lipodystrophy 1
                Marfan Lipodystrophy Syndrome 1
                Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly + 2
                Progressive Encephalopathy, with or without Lipodystrophy 1
                complete generalized lipodystrophy + 5
                lipoatrophic diabetes mellitus + 3
                partial lipodystrophy + 11
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.