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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:familial periodic paralysis
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Accession:DOID:1029 term browser browse the term
Definition:A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells. (DO)
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.



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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
RGD
PMID:17324964 PMID:19201608 PMID:22581653 PMID:12045162 RGD:1580802 NCBI chr10:96,060,849...96,071,401
Ensembl chr10:96,060,821...96,071,445
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 chr10:91,732,111...91,760,095
Ensembl chr10:91,732,111...91,760,092
JBrowse link
G Ddx5 DEAD-box helicase 5 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:91,723,508...91,732,210
Ensembl chr10:91,723,508...91,732,283
JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:91,326,889...91,421,201
Ensembl chr10:91,330,654...91,421,029
JBrowse link
G Icam2 intercellular adhesion molecule 2 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:91,308,608...91,319,536
Ensembl chr10:91,308,538...91,315,293
JBrowse link
G Lrrc37a leucine rich repeat containing 37A ISO ClinVar Annotator: match by term: Hyperkalemic Periodic Paralysis Type 1 ClinVar PMID:28492532 NCBI chr10:88,395,837...88,433,519
Ensembl chr10:88,396,663...88,433,323
JBrowse link
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
JBrowse link
G Prr29 proline rich 29 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:91,305,820...91,320,661
Ensembl chr10:91,305,723...91,310,439
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: Paramyotonia congenita/hyperkalemic periodic paralysis
ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE
ClinVar Annotator: match by term: Periodic hyperkalemic paralysis
ClinVar Annotator: match by term: Hyperkalemic Periodic Paralysis Type 1
ClinVar Annotator: match by term: GAMSTORP DISEASE
DNA: missense mutation: exon 13 : p.T704M
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:170500
OMIM
ClinVar
CTD
RGD
PMID:1310898 PMID:1316765 PMID:1338909 PMID:1659668 PMID:1659948 More... RGD:13208536 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
JBrowse link
G Smurf2 SMAD specific E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:91,761,798...91,862,485
Ensembl chr10:91,761,807...91,862,488
JBrowse link
G Tex2 testis expressed 2 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:91,436,629...91,546,240
Ensembl chr10:91,436,694...91,546,270
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: HypoPP
ClinVar Annotator: match by term: Hypokalemic periodic paralysis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1982519 PMID:9199552 PMID:9536098 PMID:10590402 PMID:11260227 More... RGD:1300372 NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318
JBrowse link
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO RGD PMID:11207363 RGD:1600040 NCBI chr 1:154,523,903...154,530,865
Ensembl chr 1:154,523,830...154,532,020
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 chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
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 More... NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318
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:1918277 PMID:2173143 More... NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
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
RGD
PMID:1918277 PMID:7695243 PMID:9266738 PMID:10599760 PMID:10851391 More... RGD:13208531, RGD:13208529 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
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 More... NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
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
ClinVar Annotator: match by term: Thyrotoxic periodic paralysis, susceptibility to, 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:15001631 PMID:28492532 NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318
JBrowse link
G RT1-A1 RT1 class Ia, locus A1 ISO protein:increased expression:peripheral blood cell (human) RGD PMID:1752149 RGD:8655904 NCBI chr20:4,905,309...4,914,593 JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO protein:increased expression:peripheral blood cell (human) RGD PMID:1752149 RGD:8655904 NCBI chr20:3,314,984...3,318,037 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      musculoskeletal system disease 6483
        muscular disease 1289
          familial periodic paralysis 17
            Normokalemic Periodic Paralysis, Potassium-Sensitive 1
            hyperkalemic periodic paralysis 12
            hypokalemic periodic paralysis + 5
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        peripheral nervous system disease 2581
          neuropathy 2374
            neuromuscular disease 1889
              muscular disease 1289
                familial periodic paralysis 17
                  Normokalemic Periodic Paralysis, Potassium-Sensitive 1
                  hyperkalemic periodic paralysis 12
                  hypokalemic periodic paralysis + 5
paths to the root