Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:familial partial lipodystrophy
go back to main search page
Accession:DOID:0050440 term browser browse the term
Definition:A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. (DO)
Synonyms:exact_synonym: Koberling Dunnigan Syndrome;   familial partial lipodystrophies;   reverse partial lipodystrophies;   reverse partial lipodystrophy
 narrow_synonym: lipoatrophy with diabetes, hepatic steatosis, hypertrophic cardiomyopathy, and leukomelanodermic papules
 primary_id: MESH:D052496
 xref: GARD:11962;   NCI:C84708;   OMIM:PS151660;   ORDO:98306
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
familial partial lipodystrophy term browser
Symbol Object Name 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: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
ClinVar Annotator: match by term: Lipodystrophy, reverse partial
ClinVar Annotator: match by term: Familial partial lipodystrophy
DNA:missense mutations:cds:multiple (human)
CTD
ClinVar
PMID:10587585 PMID:10612827 PMID:10655060 PMID:10739751 PMID:10999791 PMID:11078466 PMID:11342468 PMID:11344241 PMID:11503164 PMID:12628721 PMID:12629077 PMID:12844477 PMID:12920062 PMID:12927431 PMID:14510863 PMID:14597414 PMID:14615128 PMID:14749366 PMID:15060110 PMID:15140538 PMID:15475483 PMID:15531479 PMID:15998779 PMID:16174718 PMID:16241930 PMID:16278265 PMID:16440304 PMID:16809772 PMID:17250669 PMID:17274801 PMID:17377071 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18795223 PMID:18926329 PMID:19169477 PMID:19220582 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19793595 PMID:19859838 PMID:20130076 PMID:20625965 PMID:20848652 PMID:20980393 PMID:21465660 PMID:21520333 PMID:21883346 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22464770 PMID:22700598 PMID:22918509 PMID:23183350 PMID:23328570 PMID:23853504 PMID:23861362 PMID:24001739 PMID:24002959 PMID:24033266 PMID:24055113 PMID:24503780 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24846508 PMID:25163546 PMID:25214167 PMID:25351510 PMID:25367549 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:27707468 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27854218 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28531892 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28785654 PMID:28874324 PMID:29040816 PMID:29078011 PMID:29149195 PMID:29237675 PMID:29438482 PMID:29693488 PMID:29791652 PMID:30165862 PMID:30420677 PMID:31525256 PMID:32004434, 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan
ClinVar Annotator: match by term: Lipodystrophy, familial, of limbs and lower trunk
OMIM
ClinVar
PMID:12628721 PMID:12920062 PMID:15060110 PMID:15140538 PMID:15475483 PMID:15998779 PMID:16278265 PMID:16809772 PMID:17250669 PMID:17377071 PMID:18414213 PMID:18549403 PMID:18795223 PMID:18926329 PMID:19169477 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19589617 PMID:19638735 PMID:19680556 PMID:20848652 PMID:21465660 PMID:21883346 PMID:22224630 PMID:22266370 PMID:22464770 PMID:22700598 PMID:22918509 PMID:23183350 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:27532257 PMID:27585670 PMID:27707468 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:30420677 PMID:31525256 PMID:32004434 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 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 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 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 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 PMID:28492532 NCBI chr 1:82,248,031...82,266,727
Ensembl chr 1:82,248,046...82,266,727
JBrowse link
Lipodystrophy with Congenital Cataracts and Neurodegeneration term browser
Symbol Object Name 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        lipid metabolism disorder 925
          lipodystrophy 37
            partial lipodystrophy 11
              familial partial lipodystrophy 10
                Lipodystrophy with Congenital Cataracts and Neurodegeneration 1
                familial partial lipodystrophy type 1 0
                familial partial lipodystrophy type 2 1
                familial partial lipodystrophy type 3 2
                familial partial lipodystrophy type 4 1
                familial partial lipodystrophy type 5 1
                familial partial lipodystrophy type 6 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          skin disease 2741
            Metabolic Skin Diseases 37
              lipodystrophy 37
                partial lipodystrophy 11
                  familial partial lipodystrophy 10
                    Lipodystrophy with Congenital Cataracts and Neurodegeneration 1
                    familial partial lipodystrophy type 1 0
                    familial partial lipodystrophy type 2 1
                    familial partial lipodystrophy type 3 2
                    familial partial lipodystrophy type 4 1
                    familial partial lipodystrophy type 5 1
                    familial partial lipodystrophy type 6 2
paths to the root