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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:Laminopathies
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Accession:DOID:9006138 term browser browse the term
Definition:Genetic diseases caused by mutations of the lamin A/C gene (LMNA): dystrophies of skeletal and/or cardiac muscles, and partial lipodystrophies.
Synonyms:exact_synonym: laminopathy
 primary_id: MESH:D000083083
For additional species annotation, visit the Alliance of Genome Resources.


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Laminopathies 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: Laminopathy ClinVar PMID:2007407 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 More... NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
JBrowse link
autosomal dominant Emery-Dreifuss muscular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO OMIM NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
JBrowse link
autosomal recessive Emery-Dreifuss muscular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO OMIM NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
JBrowse link
Charcot-Marie-Tooth disease type 2B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO OMIM NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
JBrowse link
congenital muscular dystrophy due to LMNA mutation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO OMIM NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
JBrowse link
Congenital Progeroid Syndrome, Petty Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a24 solute carrier family 25 member 24 ISO OMIM NCBI chrNW_004955435:11,895,475...11,933,153
Ensembl chrNW_004955435:11,895,405...11,933,153
JBrowse link
dilated cardiomyopathy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:24439875 PMID:25741868 PMID:27532257 PMID:28166811 More... NCBI chrNW_004955413:17,385,966...17,510,220
Ensembl chrNW_004955413:17,382,564...17,510,132
JBrowse link
G Actc1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 NCBI chrNW_004955416:2,139,541...2,144,678
Ensembl chrNW_004955416:2,137,101...2,145,416
JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 NCBI chrNW_004955492:3,483,704...3,554,831
Ensembl chrNW_004955492:3,483,511...3,555,190
JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 More... NCBI chrNW_004955425:2,258,554...2,267,699
Ensembl chrNW_004955425:2,258,392...2,267,878
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar PMID:21353195 PMID:24033266 PMID:25741868 PMID:28436997 PMID:28492532 More... NCBI chrNW_004955551:446,322...468,329
Ensembl chrNW_004955551:446,605...469,207
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955453:14,039,502...14,046,572
Ensembl chrNW_004955453:14,039,502...14,047,246
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:18957847 PMID:23863954 PMID:23911551 PMID:24033266 PMID:25741868 More... NCBI chrNW_004955402:18,465,631...18,496,948
Ensembl chrNW_004955402:18,464,989...18,489,475
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955402:18,826,400...18,876,188 JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar PMID:20716751 PMID:23292937 PMID:23861362 PMID:24033266 PMID:24125834 More... NCBI chrNW_004955465:6,356,970...6,391,206
Ensembl chrNW_004955465:6,356,863...6,392,207
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 NCBI chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904
JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:26676105 NCBI chrNW_004955403:33,478,034...33,481,613
Ensembl chrNW_004955403:33,478,924...33,481,608
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 PMID:19377068 More... NCBI chrNW_004955510:5,738,254...5,793,643
Ensembl chrNW_004955510:5,738,041...5,790,557
JBrowse link
G Lmna lamin A/C ISO OMIM NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:11499718 PMID:11815426 PMID:12110947 PMID:12707239 PMID:12818575 More... NCBI chrNW_004955422:888,529...902,074
Ensembl chrNW_004955422:888,589...901,725
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955425:20,461,654...20,545,626
Ensembl chrNW_004955425:20,471,047...20,544,105
JBrowse link
G Nexn nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955423:15,278,526...15,299,654
Ensembl chrNW_004955423:15,278,526...15,299,659
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955505:2,878,001...2,959,299
Ensembl chrNW_004955505:2,878,081...2,958,404
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar PMID:16783378 PMID:19712804 PMID:20301718 PMID:20590677 PMID:22004663 More... NCBI chrNW_004955485:590,094...769,604
Ensembl chrNW_004955485:586,373...769,635
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:16712702 PMID:18508782 PMID:19716085 PMID:22581653 PMID:23631430 More... NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552
JBrowse link
G Sgcd sarcoglycan delta ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25637381 PMID:25741868 NCBI chrNW_004955408:10,273,344...10,820,108
Ensembl chrNW_004955408:10,273,223...10,819,072
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955580:915,668...921,703
Ensembl chrNW_004955580:915,188...922,791
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A
ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ClinVar PMID:9536098 PMID:17444505 PMID:17576681 PMID:21520333 PMID:22335739 More... NCBI chrNW_004955403:18,057,344...18,328,389 JBrowse link
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO OMIM NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
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 OMIM NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
JBrowse link
Heart-Hand Syndrome, Slovenian Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO OMIM NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
JBrowse link
lethal restrictive dermopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO OMIM NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO OMIM NCBI chrNW_004955537:82,724...134,609
Ensembl chrNW_004955537:81,920...134,609
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 OMIM NCBI chrNW_004955559:712,375...730,551
Ensembl chrNW_004955559:712,321...725,661
JBrowse link
Mandibuloacral Dysplasia Progeroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtx2 metaxin 2 ISO OMIM NCBI chrNW_004955403:20,359,524...20,412,473
Ensembl chrNW_004955403:20,359,527...20,412,742
JBrowse link
Neonatal Progeroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a RNA polymerase III subunit A ISO OMIM NCBI chrNW_004955437:14,446,059...14,483,336
Ensembl chrNW_004955437:14,446,024...14,483,336
JBrowse link
Nestor-Guillermo Progeria Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Banf1 BAF nuclear assembly factor 1 ISO OMIM NCBI chrNW_004955422:19,337,038...19,338,824
Ensembl chrNW_004955422:19,337,038...19,338,824
JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome ClinVar NCBI chrNW_004955422:19,339,111...19,343,673
Ensembl chrNW_004955422:19,339,111...19,345,109
JBrowse link
Penttinen-Aula Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO OMIM NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587
JBrowse link
progeria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank3 ankyrin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27217151 NCBI chrNW_004955425:13,522,233...13,851,286 JBrowse link
G Eef1e1 eukaryotic translation elongation factor 1 epsilon 1 ISO RGD PMID:20726853 RGD:10401221 NCBI chrNW_004955465:5,878,055...5,895,232 JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Hutchinson-Gilford syndrome ClinVar PMID:8797827 PMID:9579555 PMID:20221251 PMID:21228398 PMID:21612988 More... NCBI chrNW_004955442:4,833,453...4,861,201
Ensembl chrNW_004955442:4,831,721...4,861,122
JBrowse link
G Igf1 insulin like growth factor 1 treatment ISO RGD PMID:20805469 RGD:10003141 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
JBrowse link
G Lmna lamin A/C ISO OMIM NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19648921 NCBI chrNW_004955506:1,231,874...1,236,550
Ensembl chrNW_004955506:1,231,863...1,236,550
JBrowse link
G Sprtn SprT-like N-terminal domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:25261934 NCBI chrNW_004955492:7,463,228...7,476,683
Ensembl chrNW_004955492:7,464,959...7,476,458
JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 severity ISO RGD PMID:22541428 RGD:10044242 NCBI chrNW_004955460:8,560,824...8,619,142
Ensembl chrNW_004955460:8,579,460...8,617,705
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23217256 NCBI chrNW_004955537:82,724...134,609
Ensembl chrNW_004955537:81,920...134,609
JBrowse link
Progeria Syndrome, Childhood-Onset 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: Hutchinson-gilford progeria syndrome, childhood-onset
ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, childhood-onset
ClinVar PMID:11015599 PMID:11503164 PMID:11792811 PMID:12629077 PMID:12927431 More... NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
JBrowse link
Ruijs-Aalfs syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sprtn SprT-like N-terminal domain ISO OMIM NCBI chrNW_004955492:7,463,228...7,476,683
Ensembl chrNW_004955492:7,464,959...7,476,458
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12762
    Developmental Disease 9675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8432
        genetic disease 8008
          Laminopathies 38
            Autosomal Emery-Dreifuss Muscular Dystrophy + 1
            Charcot-Marie-Tooth disease type 2B1 1
            Heart-Hand Syndrome, Slovenian Type 1
            congenital muscular dystrophy due to LMNA mutation 1
            dilated cardiomyopathy 1A 23
            dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 1
            familial partial lipodystrophy type 2 1
            lethal restrictive dermopathy 2
            progeria + 16
paths to the root