Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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 periodic paralysis
go back to main search page
Accession:DOID:1029 term browser browse the term
Definition:A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)
Synonyms:exact_synonym: familial periodic paralyses;   normokalemic periodic paralyses;   normokalemic periodic paralysis
 primary_id: MESH:D010245
 xref: GARD:6422;   NCI:C84709
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
familial periodic paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO DNA:missense mutation:192T>A (human)
ClinVar Annotator: match by term: Familial periodic paralysis
ClinVar PMID:17324964 PMID:19201608 PMID:22581653, PMID:12045162 RGD:1580802 NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
JBrowse link
hyperkalemic periodic paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep95 centrosomal protein 95 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:94,988,362...95,017,774
Ensembl chr10:94,988,362...95,016,344
JBrowse link
G Ddx5 DEAD-box helicase 5 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:94,979,759...94,988,461
Ensembl chr10:94,980,928...94,988,461
JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:94,588,555...94,682,072
Ensembl chr10:94,588,555...94,681,914
JBrowse link
G Icam2 intercellular adhesion molecule 2 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:94,569,889...94,581,218
Ensembl chr10:94,569,890...94,576,512
JBrowse link
G Lrrc37a leucine rich repeat containing 37A ISO ClinVar Annotator: match by term: Hyperkalemic Periodic Paralysis Type 1 ClinVar PMID:28492532 NCBI chr10:91,548,704...91,581,537
Ensembl chr10:91,544,417...91,581,232
JBrowse link
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:94,944,243...94,961,795
Ensembl chr10:94,944,436...94,961,791
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:94,968,836...94,979,259
Ensembl chr10:94,968,836...94,979,259
JBrowse link
G Prr29 proline rich 29 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:94,565,498...94,569,926
Ensembl chr10:94,566,928...94,569,366
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis
ClinVar Annotator: match by term: Periodic hyperkalemic paralysis
ClinVar Annotator: match by term: Hyperkalemic Periodic Paralysis Type 1
ClinVar Annotator: match by term: Paramyotonia congenita/hyperkalemic periodic paralysis
ClinVar Annotator: match by term: GAMSTORP DISEASE
DNA: missense mutation: exon 13 : p.T704M
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE
ClinVar Annotator: match by OMIM:170500
OMIM
ClinVar
CTD
PMID:1310898 PMID:1316765 PMID:1338909 PMID:1659668 PMID:1659948 PMID:2649440 PMID:7473241 PMID:7533571 PMID:7676326 PMID:7689382 PMID:7695243 PMID:7767090 PMID:7809121 PMID:7980103 PMID:8005599 PMID:8044656 PMID:8058156 PMID:8110459 PMID:8242056 PMID:8308722 PMID:8382500 PMID:8542048 PMID:8580427 PMID:8583225 PMID:8619545 PMID:8740371 PMID:8902732 PMID:8910215 PMID:8985730 PMID:9130156 PMID:9131651 PMID:9266738 PMID:9339683 PMID:9392583 PMID:9508833 PMID:9660885 PMID:9771789 PMID:9886942 PMID:10200418 PMID:10206477 PMID:10218481 PMID:10227633 PMID:10366610 PMID:10381583 PMID:10599760 PMID:10851391 PMID:10944223 PMID:11102465 PMID:11309455 PMID:11422459 PMID:11558801 PMID:11591859 PMID:11723275 PMID:11744749 PMID:11757950 PMID:11912116 PMID:11971097 PMID:12483017 PMID:12552059 PMID:12562902 PMID:12766226 PMID:12872329 PMID:12898257 PMID:12933953 PMID:14504341 PMID:14518676 PMID:14557559 PMID:14617673 PMID:15221887 PMID:15389891 PMID:15482957 PMID:15534250 PMID:15557532 PMID:15596759 PMID:15642860 PMID:15645704 PMID:15774523 PMID:15790667 PMID:16392038 PMID:16624558 PMID:16786525 PMID:16801039 PMID:16832098 PMID:16890191 PMID:17212350 PMID:17330043 PMID:17334961 PMID:17395131 PMID:17823953 PMID:17898326 PMID:17998485 PMID:18033047 PMID:18041053 PMID:18046642 PMID:18162704 PMID:18166706 PMID:18203179 PMID:18317596 PMID:18337100 PMID:18337730 PMID:18414213 PMID:18690054 PMID:18824591 PMID:19015492 PMID:19052238 PMID:19065518 PMID:19077043 PMID:19118277 PMID:19201608 PMID:19221125 PMID:19225109 PMID:19290024 PMID:19770477 PMID:19840739 PMID:19876661 PMID:19882638 PMID:20038812 PMID:20076800 PMID:20445432 PMID:20495927 PMID:20522878 PMID:20660662 PMID:20681998 PMID:20713951 PMID:20981092 PMID:21189962 PMID:21220685 PMID:21221019 PMID:21387378 PMID:21490317 PMID:21664816 PMID:21665479 PMID:21698652 PMID:21708955 PMID:21841462 PMID:21881211 PMID:22094069 PMID:22106717 PMID:22250216 PMID:22253644 PMID:22253645 PMID:22257501 PMID:22507243 PMID:22643347 PMID:22653516 PMID:22914841 PMID:22926674 PMID:23019082 PMID:23516313 PMID:23589580 PMID:23771340 PMID:23801527 PMID:23810313 PMID:23884711 PMID:24324661 PMID:24549961 PMID:24682880 PMID:24714718 PMID:24778431 PMID:24939454 PMID:24943082 PMID:25024265 PMID:25088311 PMID:25213595 PMID:25311598 PMID:25326635 PMID:25348405 PMID:25348630 PMID:25454733 PMID:25707578 PMID:25724373 PMID:25741868 PMID:25755818 PMID:25839108 PMID:25961944 PMID:26036855 PMID:26080010 PMID:26252573 PMID:26256659 PMID:26423924 PMID:26427606 PMID:26467025 PMID:26494408 PMID:26621775 PMID:26633542 PMID:26659129 PMID:26700687 PMID:26702073 PMID:26834636 PMID:26885337 PMID:26944947 PMID:26986070 PMID:27060299 PMID:27164696 PMID:27199537 PMID:27415035 PMID:27486940 PMID:27714768 PMID:27858759 PMID:27922499 PMID:28003497 PMID:28024841 PMID:28150151 PMID:28325641 PMID:28330959 PMID:28492532 PMID:28779239 PMID:28877545 PMID:28967683 PMID:29111379 PMID:29391559 PMID:29419865 PMID:29605429 PMID:29606556 PMID:29946067 PMID:30369941 PMID:31068157, PMID:12933953 RGD:13208536 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
JBrowse link
G Smurf2 SMAD specific E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:95,018,050...95,118,107
Ensembl chr10:95,018,059...95,062,987
JBrowse link
G Tex2 testis expressed 2 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:94,697,962...94,807,544
Ensembl chr10:94,697,016...94,807,499
JBrowse link
hypokalemic periodic paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO DNA, protein:missense mutations:cds:p.R528H,R1239H (human)
ClinVar Annotator: match by term: Hypokalemic periodic paralysis
ClinVar Annotator: match by term: HypoPP
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1982519 PMID:9199552 PMID:10590402 PMID:11260227 PMID:11912116 PMID:12411788 PMID:19822448 PMID:19825159 PMID:20431982 PMID:22547813 PMID:22992668 PMID:23662824 PMID:25637381 PMID:25741868 PMID:26467025 PMID:28492532, PMID:7847370 RGD:1300372 NCBI chr13:52,889,570...52,964,558
Ensembl chr13:52,889,737...52,964,155
JBrowse link
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO RGD PMID:11207363 RGD:1600040 NCBI chr 1:165,189,934...165,196,949
Ensembl chr 1:165,189,985...165,196,948
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: HypoPP
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11912116 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
JBrowse link
Hypokalemic Periodic Paralysis, Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis 1
ClinVar Annotator: match by OMIM:170400
OMIM
ClinVar
PMID:1982519 PMID:3037387 PMID:7650604 PMID:7847370 PMID:7897626 PMID:7987325 PMID:8004673 PMID:8605978 PMID:9066893 PMID:9132138 PMID:9199552 PMID:9512357 PMID:9852570 PMID:10074484 PMID:10523403 PMID:10590402 PMID:10639629 PMID:11034874 PMID:11260227 PMID:11328898 PMID:11555352 PMID:11808349 PMID:11940049 PMID:12411788 PMID:15711422 PMID:15716625 PMID:15726306 PMID:17418573 PMID:18162704 PMID:18229654 PMID:18325191 PMID:18835861 PMID:19118277 PMID:19225109 PMID:19779499 PMID:19825159 PMID:20431982 PMID:20681998 PMID:20861472 PMID:21841462 PMID:21855088 PMID:22547813 PMID:22992668 PMID:23187123 PMID:23662824 PMID:24033266 PMID:24055113 PMID:24088041 PMID:24195946 PMID:24240197 PMID:24784157 PMID:25132214 PMID:25213595 PMID:25430699 PMID:25637381 PMID:25658027 PMID:25735680 PMID:25741868 PMID:26247046 PMID:26332594 PMID:26433613 PMID:26467025 PMID:26633545 PMID:27066551 PMID:27147545 PMID:28008999 PMID:28011884 PMID:28012042 PMID:28326467 PMID:28492532 PMID:28857175 PMID:29048924 PMID:29193480 PMID:29212769 PMID:29572832 PMID:29792937 PMID:30236257 NCBI chr13:52,889,570...52,964,558
Ensembl chr13:52,889,737...52,964,155
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypokalemic periodic paralysis 1
CTD
ClinVar
PMID:1310898 PMID:1659668 PMID:1659948 PMID:7533571 PMID:7767090 PMID:7809121 PMID:8044656 PMID:8058156 PMID:8242056 PMID:8382500 PMID:8583225 PMID:8740371 PMID:8910215 PMID:8985730 PMID:9130156 PMID:9131651 PMID:9392583 PMID:9886942 PMID:10206477 PMID:10218481 PMID:10366610 PMID:10599760 PMID:10944223 PMID:11102465 PMID:11309455 PMID:11558801 PMID:11591859 PMID:11744749 PMID:11912116 PMID:12872329 PMID:12933953 PMID:14504341 PMID:14518676 PMID:14617673 PMID:15221887 PMID:15482957 PMID:15534250 PMID:15557532 PMID:15596759 PMID:15642860 PMID:15645704 PMID:15790667 PMID:16890191 PMID:17330043 PMID:17334961 PMID:17395131 PMID:18041053 PMID:18046642 PMID:18162704 PMID:18166706 PMID:18317596 PMID:18337100 PMID:18337730 PMID:18824591 PMID:19077043 PMID:19118277 PMID:19225109 PMID:19290024 PMID:19770477 PMID:19840739 PMID:19882638 PMID:20445432 PMID:20660662 PMID:21189962 PMID:21220685 PMID:21387378 PMID:21490317 PMID:21665479 PMID:21708955 PMID:21841462 PMID:21881211 PMID:22253644 PMID:22253645 PMID:22653516 PMID:22926674 PMID:23019082 PMID:23771340 PMID:23801527 PMID:23810313 PMID:24714718 PMID:24943082 PMID:25024265 PMID:25213595 PMID:25348630 PMID:25724373 PMID:25741868 PMID:25839108 PMID:26252573 PMID:26256659 PMID:26423924 PMID:26427606 PMID:26467025 PMID:26621775 PMID:26702073 PMID:26834636 PMID:27199537 PMID:28325641 PMID:28492532 PMID:29419865 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
JBrowse link
Hypokalemic Periodic Paralysis, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 2
DNA: missense mutation : exon : p.R663H
DNA : missense mutation : exon : p.R672S
OMIM
ClinVar
PMID:7695243 PMID:9266738 PMID:10599760 PMID:10851391 PMID:10944223 PMID:11102465 PMID:11558801 PMID:11591859 PMID:11912116 PMID:12898257 PMID:14504341 PMID:14557559 PMID:15482957 PMID:15534250 PMID:15557532 PMID:15596759 PMID:15645704 PMID:15774523 PMID:16890191 PMID:17330043 PMID:17898326 PMID:18041053 PMID:18046642 PMID:18162704 PMID:18337100 PMID:18337730 PMID:18414213 PMID:18824591 PMID:19118277 PMID:19225109 PMID:19882638 PMID:20522878 PMID:20660662 PMID:20681998 PMID:20981092 PMID:21189962 PMID:21221019 PMID:21490317 PMID:21841462 PMID:21881211 PMID:22253645 PMID:23019082 PMID:23516313 PMID:23884711 PMID:24549961 PMID:25024265 PMID:25213595 PMID:25348405 PMID:25454733 PMID:25741868 PMID:26252573 PMID:26423924 PMID:26467025 PMID:26986070 PMID:27714768 PMID:27858759 PMID:28492532 PMID:29419865 PMID:29606556, PMID:21881211, PMID:15645704 RGD:13208531, RGD:13208529 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
JBrowse link
Normokalemic Periodic Paralysis, Potassium-Sensitive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Normokalemic periodic paralysis, potassium-sensitive ClinVar PMID:15596759 PMID:18046642 PMID:19052238 PMID:19065518 PMID:19201608 PMID:19225109 PMID:22926674 PMID:23516313 PMID:24682880 PMID:25326635 PMID:25741868 PMID:25839108 PMID:26467025 PMID:28492532 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
JBrowse link
Thyrotoxic Periodic Paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1s calcium voltage-gated channel subunit alpha1 S susceptibility ISO ClinVar Annotator: match by term: Thyrotoxic periodic paralysis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:15001631 NCBI chr13:52,889,570...52,964,558
Ensembl chr13:52,889,737...52,964,155
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO protein:increased expression:peripheral blood cell (human) RGD PMID:1752149 RGD:8655904

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        muscular disease 1168
          familial periodic paralysis 16
            Normokalemic Periodic Paralysis, Potassium-Sensitive 1
            hyperkalemic periodic paralysis 12
            hypokalemic periodic paralysis + 4
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                familial periodic paralysis 16
                  Normokalemic Periodic Paralysis, Potassium-Sensitive 1
                  hyperkalemic periodic paralysis 12
                  hypokalemic periodic paralysis + 4
paths to the root