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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
 xref: ICD9CM:272.6;   NCI:C97093
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 susceptibility ISO RGD PMID:11967537 RGD:1598785 NCBI chr 3:4,044,741...4,055,384
Ensembl chr 3:4,044,542...4,055,806
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO CGL2, OMIM:269700, DNA:frameshift:exon
CTD Direct Evidence: marker/mechanism
CTD PMID:25462787, PMID:11479539 RGD:1600601 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO RGD PMID:16697654 RGD:1581157 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ebf1 EBF transcription factor 1 ISS OMIM:608709 MouseDO NCBI chr10:23,654,849...24,051,627
Ensembl chr10:23,661,013...24,050,209
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO RGD PMID:24011075 RGD:10401088 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Insr insulin receptor ISO RGD PMID:14722613 RGD:1302525 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Lmna lamin A/C ISO DNA:missense mutation:cds:p.R482Q, p.R482W (human)
ClinVar Annotator: match by term: Lipodystrophy
ClinVar PMID:10441578, PMID:10587585, PMID:10662742, PMID:10739751, PMID:10814726, PMID:10939567, PMID:11342468, PMID:12015247, PMID:12628721, PMID:12788894, PMID:12920062, PMID:12927431, PMID:14607793, PMID:15148145, PMID:15219508, PMID:15317753, PMID:15668447, PMID:15688064, PMID:15770669, PMID:15843403, PMID:15996213, PMID:16816143, PMID:16838330, PMID:17139325, PMID:17377071, PMID:18256394, PMID:18551513, PMID:18585512, PMID:18611980, PMID:19095983, PMID:19283854, PMID:19589617, PMID:19764019, PMID:20074070, PMID:20127487, PMID:22103508, PMID:22199124, PMID:22918509, PMID:23071165, PMID:23183350, PMID:23666920, PMID:24033266, PMID:25327215, PMID:25741868, PMID:26332594, PMID:27919367, PMID:28074886, PMID:28255936, PMID:28492532, PMID:28663758, PMID:29047356, PMID:29791652, PMID:30123186, PMID:12524233 RGD:2306123 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Lpin1 lipin 1 ISS OMIM:608709 MouseDO NCBI chr 6:41,796,214...41,905,149
Ensembl chr 6:41,799,749...41,870,046
JBrowse link
G Parp2 poly (ADP-ribose) polymerase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21417348 NCBI chr15:27,739,416...27,749,650
Ensembl chr15:27,739,251...27,749,648
JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chr 1:100,538,066...100,554,105
Ensembl chr 1:100,537,900...100,554,488
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO FPLD3,OMIM:604367;DNA:point mutation:exon:P467L
ClinVar Annotator: match by term: Lipodystrophy
ClinVar PMID:10622252, PMID:15254591, PMID:22461176, PMID:25157153, PMID:10622252 RGD:1601445 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12913070, PMID:21828285 RGD:10043099 NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
JBrowse link
congenital generalized lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Berardinelli-Seip congenital lipodystrophy
CTD
ClinVar
PMID:19187773 RGD:10047097 NCBI chr 3:4,044,741...4,055,384
Ensembl chr 3:4,044,542...4,055,806
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Lipodystrophy, Congenital Generalized
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:28492532 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
congenital generalized lipodystrophy type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 1 ClinVar
OMIM
PMID:11967537, PMID:12765973, PMID:14557463, PMID:14715872, PMID:15181077, PMID:15629135, PMID:18640396, PMID:19026526, PMID:21744063, PMID:22831748, PMID:24498038, PMID:25195639, PMID:25741868, PMID:26336158, PMID:27144933, PMID:28492532 NCBI chr 3:4,044,741...4,055,384
Ensembl chr 3:4,044,542...4,055,806
JBrowse link
congenital generalized lipodystrophy type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 ClinVar
OMIM
PMID:11479539, PMID:11916958, PMID:12030893, PMID:15126564, PMID:15181077, PMID:18057387, PMID:18093937, PMID:19041432, PMID:19226263, PMID:23564749, PMID:23963299, PMID:23989774, PMID:25588603, PMID:25741868, PMID:26282322, PMID:26467025, PMID:27144933, PMID:28492532 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISS OMIM:269700 MouseDO NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
congenital generalized lipodystrophy type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1 ISO ClinVar Annotator: match by OMIM:612526 OMIM
ClinVar
PMID:18211975, PMID:25356970, PMID:25898808 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
congenital generalized lipodystrophy type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cavin1 caveolae associated protein 1 ISO ClinVar Annotator: match by term: Lipodystrophy, congenital generalized, type 4
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:12116229, PMID:18698612, PMID:19726876, PMID:20300641, PMID:20684003, PMID:25741868, PMID:28492532 NCBI chr10:88,862,513...88,874,495
Ensembl chr10:88,860,733...88,874,528
JBrowse link
familial partial lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt2 AKT serine/threonine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19793595 NCBI chr 1:84,400,939...84,451,223
Ensembl chr 1:84,411,726...84,450,162
JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19793595 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:145,377,482...145,390,497
Ensembl chr 4:145,377,431...145,390,497
JBrowse link
G Lipe lipase E, hormone sensitive type ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:82,248,031...82,266,727
Ensembl chr 1:82,248,046...82,266,727
JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lipodystrophy, reverse partial
ClinVar Annotator: match by term: Familial partial lipodystrophy
ClinVar Annotator: match by term: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
DNA:missense mutations:cds:multiple (human)
CTD
ClinVar
PMID:10441578, PMID:10587585, PMID:10612827, PMID:10655060, PMID:10662742, PMID:10739751, PMID:10814726, PMID:10939567, PMID:10999791, PMID:11342468, PMID:11344241, PMID:11503164, PMID:12015247, PMID:12628721, PMID:12629077, PMID:12788894, PMID:12844477, PMID:12920062, PMID:12927431, PMID:14510863, PMID:14597414, PMID:14607793, PMID:14615128, PMID:14749366, PMID:15140538, PMID:15148145, PMID:15205219, PMID:15219508, PMID:15317753, PMID:15475483, PMID:15531479, PMID:15668447, PMID:15688064, PMID:15770669, PMID:15843403, PMID:15996213, PMID:15998779, PMID:16174718, PMID:16241930, PMID:16278265, PMID:16440304, PMID:16809772, PMID:16816143, PMID:16838330, PMID:17139325, PMID:17250669, PMID:17274801, PMID:17377071, PMID:18256394, PMID:18396274, PMID:18414213, PMID:18549403, PMID:18551513, PMID:18585512, PMID:18611980, PMID:18795223, PMID:18926329, PMID:19220582, PMID:19283854, PMID:19318026, PMID:19418082, PMID:19424285, PMID:19427440, PMID:19589617, PMID:19622949, PMID:19638735, PMID:19680556, PMID:19764019, PMID:19793595, PMID:19859838, PMID:20074070, PMID:20127487, PMID:20130076, PMID:20625965, PMID:20848652, PMID:20980393, PMID:21520333, PMID:22103508, PMID:22199124, PMID:22224630, PMID:22266370, PMID:22326558, PMID:22464770, PMID:22918509, PMID:23071165, PMID:23183350, PMID:23328570, PMID:23853504, PMID:23861362, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24503780, PMID:24642510, PMID:24721642, PMID:24768879, PMID:24846508, PMID:25214167, PMID:25524705, PMID:25637381, PMID:25741868, PMID:25885670, PMID:26183555, PMID:26332594, PMID:26467025, PMID:26602028, PMID:26662654, PMID:26752647, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27813223, PMID:27854218, PMID:27896052, PMID:27919367, PMID:28074886, PMID:28255936, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28531892, PMID:28663758, PMID:28679633, PMID:28785654, PMID:28874324, PMID:29040816, PMID:29149195, PMID:29237675, PMID:29693488, PMID:29791652, PMID:30165862, PMID:30311386, PMID:30420677, PMID:10655060 RGD:12791019 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Plin1 perilipin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:141,458,907...141,470,927
Ensembl chr 1:141,458,181...141,471,010
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:19793595 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISS OMIM:151660 | OMIM:604367 | OMIM:608600 | OMIM:613877 | OMIM:615238 MouseDO NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
JBrowse link
familial partial lipodystrophy type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Lipodystrophy, familial, of limbs and lower trunk
ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan
OMIM
ClinVar
PMID:2007407, PMID:10441578, PMID:10587585, PMID:10655060, PMID:10662742, PMID:10739751, PMID:10810087, PMID:10814726, PMID:10868844, PMID:10939567, PMID:10999791, PMID:10999845, PMID:11078466, PMID:11136544, PMID:11342468, PMID:11792809, PMID:12015247, PMID:12628721, PMID:12788894, PMID:12920062, PMID:12927424, PMID:12927431, PMID:14607793, PMID:15140538, PMID:15148145, PMID:15205219, PMID:15219508, PMID:15317753, PMID:15475483, PMID:15668447, PMID:15688064, PMID:15770669, PMID:15843403, PMID:15996213, PMID:15998779, PMID:16181372, PMID:16278265, PMID:16364671, PMID:16415042, PMID:16809772, PMID:16816143, PMID:16838330, PMID:17139325, PMID:17250669, PMID:17377071, PMID:18256394, PMID:18414213, PMID:18549403, PMID:18551513, PMID:18585512, PMID:18611980, PMID:18728124, PMID:18795223, PMID:18926329, PMID:19011997, PMID:19201734, PMID:19283854, PMID:19318026, PMID:19418082, PMID:19424285, PMID:19427440, PMID:19589617, PMID:19638735, PMID:19680556, PMID:19764019, PMID:19859838, PMID:20074070, PMID:20127487, PMID:20130076, PMID:20625965, PMID:20848652, PMID:21883346, PMID:22103508, PMID:22199124, PMID:22224630, PMID:22266370, PMID:22464770, PMID:22700598, PMID:22918509, PMID:23071165, PMID:23183350, PMID:23313286, PMID:23427149, PMID:23853504, PMID:23861362, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24503780, PMID:24721642, PMID:24846508, PMID:25163546, PMID:25214167, PMID:25351510, PMID:25367549, PMID:25637381, PMID:25741868, PMID:26332594, PMID:26467025, PMID:26602028, PMID:26662654, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27841971, PMID:27896052, PMID:27919367, PMID:28074886, PMID:28255936, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28663758, PMID:28785654, PMID:28874324, PMID:29078011, PMID:29149195, PMID:29237675, PMID:29693488, PMID:29791652, PMID:30165862, PMID:30311386, PMID:30420677 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
familial partial lipodystrophy type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS ClinVar NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO ClinVar Annotator: match by term: Lipodystrophy, familial partial, type 3
ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS
ClinVar
OMIM
PMID:9467001, PMID:9792554, PMID:10523018, PMID:10622252, PMID:10851250, PMID:11788685, PMID:12453919, PMID:14671186, PMID:15254591, PMID:17299075, PMID:17356052, PMID:22461176, PMID:25157153, PMID:25741868, PMID:28492532 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
familial partial lipodystrophy type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plin1 perilipin 1 ISO ClinVar Annotator: match by term: Lipodystrophy, familial partial, type 4
ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PLIN1 MUTATIONS
ClinVar
OMIM
PMID:21345103, PMID:25741868, PMID:28492532 NCBI chr 1:141,458,907...141,470,927
Ensembl chr 1:141,458,181...141,471,010
JBrowse link
familial partial lipodystrophy type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cidec cell death-inducing DFFA-like effector c ISO ClinVar Annotator: match by OMIM:615238 OMIM
ClinVar
PMID:18654663, PMID:20049731 NCBI chr 4:145,377,482...145,390,497
Ensembl chr 4:145,377,431...145,390,497
JBrowse link
familial partial lipodystrophy type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cela2a chymotrypsin like elastase 2A ISO ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH LIPE MUTATIONS ClinVar PMID:31358993 NCBI chr 5:160,374,031...160,383,782
Ensembl chr 5:160,374,031...160,383,782
JBrowse link
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH LIPE MUTATIONS ClinVar
OMIM
PMID:25741868 NCBI chr 1:82,248,031...82,266,727
Ensembl chr 1:82,248,046...82,266,727
JBrowse link
HIV-Associated Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:12876073 RGD:8694470 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:10930169 RGD:5684895 NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) RGD PMID:20331838, PMID:15353983 RGD:8655915, RGD:8655934 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO DNA:SNP RGD PMID:20852404 RGD:8549721 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18230615 NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
JBrowse link
JMP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psma3 proteasome 20S subunit alpha 3 ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC ClinVar PMID:21953331, PMID:26524591 NCBI chr 6:93,423,029...93,444,223
Ensembl chr 6:93,423,002...93,444,240
JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:26524591 NCBI chr 2:196,043,546...196,046,320
Ensembl chr 2:196,043,618...196,046,311
JBrowse link
G Psmb8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1
ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC
OMIM
ClinVar
PMID:8495043, PMID:20159315, PMID:20534754, PMID:21129723, PMID:21852578, PMID:21881205, PMID:21953331, PMID:24033266, PMID:25741868, PMID:26524591, PMID:28492532 NCBI chr20:3,990,809...3,993,772
Ensembl chr20:3,990,613...3,993,769
JBrowse link
Keppen-Lubinsky Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO ClinVar Annotator: match by term: Keppen-Lubinsky syndrome OMIM
ClinVar
PMID:19610118, PMID:25620207, PMID:25741868 NCBI chr11:35,011,007...35,262,362
Ensembl chr11:35,024,196...35,099,383
JBrowse link
lipoatrophic diabetes mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:liver,serum: RGD PMID:19277603 RGD:8657358
G Insr insulin receptor ISO RGD PMID:14722613 RGD:1302525 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Familial partial lipodystrophy 2
ClinVar Annotator: match by term: Lipoatrophic diabetes
ClinVar PMID:2007407, PMID:2270059, PMID:10080180, PMID:10441578, PMID:10580070, PMID:10587585, PMID:10612827, PMID:10655060, PMID:10662742, PMID:10739751, PMID:10810087, PMID:10814726, PMID:10868844, PMID:10939567, PMID:10999791, PMID:10999845, PMID:11015599, PMID:11078466, PMID:11136544, PMID:11231979, PMID:11342468, PMID:11344241, PMID:11503164, PMID:11792809, PMID:11792811, PMID:12015247, PMID:12075506, PMID:12196663, PMID:12628721, PMID:12629077, PMID:12647844, PMID:12702809, PMID:12788894, PMID:12920062, PMID:12927424, PMID:12927431, PMID:14597414, PMID:14607793, PMID:14615128, PMID:14627682, PMID:14684700, PMID:14749366, PMID:15140538, PMID:15148145, PMID:15205219, PMID:15219508, PMID:15317753, PMID:15475483, PMID:15531479, PMID:15668447, PMID:15688064, PMID:15770669, PMID:15843403, PMID:15996213, PMID:15998779, PMID:16174718, PMID:16181372, PMID:16218190, PMID:16278265, PMID:16364671, PMID:16415042, PMID:16440304, PMID:16636128, PMID:16809772, PMID:16816143, PMID:16838330, PMID:17139325, PMID:17250669, PMID:17250699, PMID:17274801, PMID:17377071, PMID:17711925, PMID:18035086, PMID:18256394, PMID:18396274, PMID:18414213, PMID:18549403, PMID:18551513, PMID:18585512, PMID:18604166, PMID:18611980, PMID:18728124, PMID:18795223, PMID:18926329, PMID:19011997, PMID:19084400, PMID:19201734, PMID:19220582, PMID:19283854, PMID:19318026, PMID:19418082, PMID:19424285, PMID:19427440, PMID:19432833, PMID:19589617, PMID:19622949, PMID:19638735, PMID:19680556, PMID:19764019, PMID:19859838, PMID:19933576, PMID:20041886, PMID:20074070, PMID:20127487, PMID:20130076, PMID:20160190, PMID:20376791, PMID:20625965, PMID:20848652, PMID:20980393, PMID:21346069, PMID:21520333, PMID:22103508, PMID:22199124, PMID:22224630, PMID:22266370, PMID:22326558, PMID:22464770, PMID:22700598, PMID:22918509, PMID:23071165, PMID:23183350, PMID:23243001, PMID:23313286, PMID:23328570, PMID:23349452, PMID:23427149, PMID:23497705, PMID:23783098, PMID:23853504, PMID:23861362, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24080738, PMID:24375749, PMID:24503780, PMID:24642510, PMID:24721642, PMID:24768879, PMID:24846508, PMID:25163546, PMID:25214167, PMID:25286833, PMID:25324471, PMID:25524705, PMID:25637381, PMID:25741868, PMID:25819867, PMID:25823658, PMID:25885670, PMID:26165385, PMID:26183555, PMID:26332594, PMID:26467025, PMID:26602028, PMID:26662654, PMID:26752647, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27813223, PMID:27854218, PMID:27896052, PMID:27919367, PMID:28074886, PMID:28255936, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28531892, PMID:28620495, PMID:28641778, PMID:28663758, PMID:28679633, PMID:28785654, PMID:28874324, PMID:29040816, PMID:29149195, PMID:29237675, PMID:29693488, PMID:29791652, PMID:30012837, PMID:30165862, PMID:30311386, PMID:30420677, PMID:30488537, PMID:12196663 RGD:1580516 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
Lipodystrophy with Congenital Cataracts and Neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1 ISO ClinVar Annotator: match by term: Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome OMIM
ClinVar
PMID:11739396, PMID:18237401, PMID:25356970, PMID:25898808 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome OMIM
ClinVar
PMID:25637381, PMID:25741868, PMID:25938944, PMID:26467025, PMID:26648449, PMID:28492532, PMID:30827058 NCBI chr 1:100,538,066...100,554,105
Ensembl chr 1:100,537,900...100,554,488
JBrowse link
Mandibuloacral Dysplasia with Type A Lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia
ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy
ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical
ClinVar Annotator: match by term: Mandibuloacral dysostosis
ClinVar Annotator: match by term: CRANIOMANDIBULAR DERMATODYSOSTOSIS
DNA:missense mutation:cds:p.R527H (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:248370
OMIM
ClinVar
CTD
PMID:10080180, PMID:10612827, PMID:10655060, PMID:10999845, PMID:11503164, PMID:12075506, PMID:12628721, PMID:12629077, PMID:12768443, PMID:12784312, PMID:12788894, PMID:12920062, PMID:12927431, PMID:14597414, PMID:14615128, PMID:14627682, PMID:14749366, PMID:15140538, PMID:15205219, PMID:15286156, PMID:15475483, PMID:15998779, PMID:16174718, PMID:16278265, PMID:16440304, PMID:16772334, PMID:16809772, PMID:17250669, PMID:17274801, PMID:17377071, PMID:17848409, PMID:17935239, PMID:18348272, PMID:18396274, PMID:18414213, PMID:18549403, PMID:18604166, PMID:18795223, PMID:18796515, PMID:18926329, PMID:19084400, PMID:19318026, PMID:19424285, PMID:19427440, PMID:19432833, PMID:19589617, PMID:19638735, PMID:19680556, PMID:19764019, PMID:19875404, PMID:20848652, PMID:20980393, PMID:21520333, PMID:22224630, PMID:22266370, PMID:22326558, PMID:22464770, PMID:22918509, PMID:23183350, PMID:23328570, PMID:23497705, PMID:23853504, PMID:23861362, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24503780, PMID:24623722, PMID:24642510, PMID:24721642, PMID:24768879, PMID:24846508, PMID:25214167, PMID:25286833, PMID:25324471, PMID:25637381, PMID:25741868, PMID:25823658, PMID:25982065, PMID:26183555, PMID:26332594, PMID:26467025, PMID:26602028, PMID:26752647, PMID:27199538, PMID:27532257, PMID:27585670, PMID:27723096, PMID:27813223, PMID:27854218, PMID:27896052, PMID:27919367, PMID:28074886, PMID:28255936, PMID:28341588, PMID:28416588, PMID:28492532, PMID:28531892, PMID:28663758, PMID:28679633, PMID:28785654, PMID:28874324, PMID:29040816, PMID:29149195, PMID:29237675, PMID:29693488, PMID:29791652, PMID:29943882, PMID:30137533, PMID:30165862, PMID:30311386, PMID:30420677, PMID:30901896, PMID:16046620 RGD:12791023 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18554282 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Mandibuloacral dysostosis ClinVar NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
JBrowse link
Mandibuloacral Dysplasia with Type B Lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy
ClinVar Annotator: match by term: Lipodystrophy, type B, associated with mandibuloacral dysplasia
ClinVar Annotator: match by OMIM:608612
OMIM
ClinVar
PMID:3840649, PMID:8152880, PMID:12913070, PMID:15317753, PMID:15843403, PMID:15937076, PMID:16297189, PMID:17152860, PMID:18414213, PMID:18435794, PMID:19020898, PMID:19139791, PMID:19504603, PMID:19645629, PMID:19680556, PMID:20034068, PMID:20635340, PMID:20814950, PMID:21108632, PMID:21121943, PMID:21831885, PMID:22495976, PMID:22718200, PMID:24169522, PMID:25629449, PMID:25741868, PMID:28492532 NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
JBrowse link
Marfan Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: MARFAN LIPODYSTROPHY SYNDROME
ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME
ClinVar Annotator: match by term: MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME
ClinVar Annotator: match by term: Marfan lipodystrophy syndrome
ClinVar
OMIM
PMID:2005308, PMID:4750422, PMID:7802039, PMID:7870075, PMID:8653794, PMID:8723076, PMID:9338581, PMID:9399842, PMID:9401003, PMID:9837823, PMID:10464652, PMID:10533071, PMID:10633129, PMID:10930463, PMID:11068200, PMID:11524736, PMID:11700157, PMID:11748851, PMID:11826022, PMID:11933199, PMID:11992479, PMID:12068374, PMID:12203987, PMID:12203992, PMID:12446365, PMID:12938084, PMID:14695540, PMID:15054843, PMID:15062093, PMID:15161917, PMID:15241795, PMID:15880509, PMID:16220557, PMID:16222657, PMID:16342915, PMID:16571647, PMID:16677079, PMID:16756980, PMID:16971892, PMID:17253931, PMID:17418587, PMID:17627385, PMID:17657824, PMID:17663468, PMID:17679947, PMID:17701892, PMID:17718856, PMID:18079676, PMID:18087243, PMID:18310266, PMID:18435798, PMID:18615205, PMID:19012347, PMID:19159394, PMID:19161152, PMID:19293843, PMID:19328768, PMID:19353630, PMID:19533785, PMID:19618372, PMID:19839986, PMID:19863550, PMID:19941982, PMID:20375004, PMID:20564469, PMID:20979188, PMID:21542060, PMID:21594992, PMID:21594993, PMID:21883168, PMID:21895641, PMID:21907952, PMID:22772377, PMID:23506379, PMID:23577066, PMID:23608731, PMID:23719250, PMID:23794388, PMID:24033266, PMID:24039054, PMID:24161884, PMID:24613577, PMID:24793577, PMID:24833718, PMID:24941995, PMID:25053872, PMID:25101912, PMID:25326635, PMID:25504618, PMID:25637381, PMID:25644172, PMID:25652356, PMID:25741868, PMID:25812041, PMID:25852444, PMID:25907466, PMID:25944730, PMID:26272055, PMID:26333736, PMID:26498160, PMID:26621581, PMID:26787436, PMID:27087445, PMID:27146836, PMID:27153395, PMID:27353645, PMID:27437668, PMID:27582083, PMID:27611364, PMID:27930701, PMID:28050602, PMID:28098115, PMID:28492532, PMID:28539832, PMID:28650953, PMID:28655553, PMID:28659821, PMID:28847661, PMID:28973303, PMID:29357934, PMID:29510914, PMID:29543232, PMID:29848614, PMID:29907982, PMID:30311386, PMID:30675029, PMID:30739908, PMID:31163209, PMID:31211626 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
Nasu-Hakola disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trem2 triggering receptor expressed on myeloid cells 2 ISO ClinVar Annotator: match by OMIM:221770
ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
ClinVar PMID:12080485, PMID:12754369, PMID:12925681, PMID:15883308, PMID:18546367, PMID:21834902, PMID:23399524, PMID:25615530, PMID:25741868, PMID:27995897, PMID:28492532, PMID:28768830, PMID:29142083 NCBI chr 9:14,611,541...14,618,076
Ensembl chr 9:14,611,561...14,618,013
JBrowse link
G Tyrobp transmembrane immune signaling adaptor Tyrobp ISO ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:221770
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:10888890, PMID:11109371, PMID:12370476, PMID:15883308, PMID:17125796, PMID:17430113, PMID:20500450, PMID:22082900, PMID:27658901, PMID:28492532, PMID:28620717 NCBI chr 1:88,875,370...88,879,305
Ensembl chr 1:88,875,375...88,879,303
JBrowse link
partial lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb2 lamin B2 susceptibility ISO ClinVar Annotator: match by OMIM:608709
ClinVar Annotator: match by term: Acquired partial lipodystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16826530, PMID:22768673, PMID:22995991, PMID:25741868, PMID:26467025, PMID:27535533, PMID:28492532 NCBI chr 7:11,657,870...11,676,936
Ensembl chr 7:11,660,934...11,675,472
JBrowse link
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trem2 triggering receptor expressed on myeloid cells 2 ISO ClinVar Annotator: match by term: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 ClinVar
OMIM
PMID:6681564, PMID:12080485, PMID:12754369, PMID:12925681, PMID:15883308, PMID:19019460, PMID:23150934, PMID:23399524, PMID:24119542, PMID:24685331, PMID:24899047, PMID:25186855, PMID:25615530, PMID:25741868, PMID:25886450, PMID:27067662, PMID:27995897, PMID:28376694, PMID:28492532, PMID:28768830, PMID:29142083 NCBI chr 9:14,611,541...14,618,076
Ensembl chr 9:14,611,561...14,618,013
JBrowse link
Progressive Encephalopathy, with or without Lipodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by OMIM:615924
ClinVar Annotator: match by term: Encephalopathy, progressive, with or without lipodystrophy
ClinVar
OMIM
PMID:11479539, PMID:18093937, PMID:23564749, PMID:26282322, PMID:28492532 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomp proteasome maturation protein ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 ClinVar
OMIM
PMID:12022327, PMID:25741868, PMID:26524591, PMID:29805043 NCBI chr12:8,746,948...8,759,433
Ensembl chr12:8,746,855...8,759,599
JBrowse link
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 ClinVar
OMIM
PMID:21953331, PMID:26524591 NCBI chr 2:196,043,546...196,046,320
Ensembl chr 2:196,043,618...196,046,311
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 ClinVar
OMIM
PMID:26524591 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        lipid metabolism disorder 899
          lipodystrophy 35
            HIV-Associated Lipodystrophy Syndrome 6
            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 3
            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
            Proteasome-Associated Autoinflammatory Syndromes + 5
            complete generalized lipodystrophy + 5
            lipoatrophic diabetes mellitus + 3
            partial lipodystrophy + 11
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          skin disease 2765
            Metabolic Skin Diseases 35
              lipodystrophy 35
                HIV-Associated Lipodystrophy Syndrome 6
                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 3
                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
                Proteasome-Associated Autoinflammatory Syndromes + 5
                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.