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ONTOLOGY REPORT - ANNOTATIONS


Term:familial periodic paralysis
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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: Normokalemic Periodic Paralyses;   Normokalemic Periodic Paralysis;   familial periodic paralyses
 primary_id: MESH:D010245;   RDO:0006279
 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 JBrowse Chr Start Stop Reference
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 JBrowse link 10 99,429,337 99,442,520 RGD:1580802
RGD:8554872
hyperkalemic periodic paralysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep95 centrosomal protein 95 JBrowse link 10 94,988,362 95,017,774 RGD:8554872
G Ddx5 DEAD-box helicase 5 JBrowse link 10 94,979,759 94,988,461 RGD:8554872
G Ern1 endoplasmic reticulum to nucleus signaling 1 JBrowse link 10 94,588,555 94,682,072 RGD:8554872
G Icam2 intercellular adhesion molecule 2 JBrowse link 10 94,569,889 94,581,218 RGD:8554872
G Lrrc37a leucine rich repeat containing 37A JBrowse link 10 91,548,704 91,581,537 RGD:8554872
G Milr1 mast cell immunoglobulin-like receptor 1 JBrowse link 10 94,944,243 94,961,795 RGD:8554872
G Pecam1 platelet and endothelial cell adhesion molecule 1 JBrowse link 10 94,850,971 94,913,202 RGD:8554872
G Polg2 DNA polymerase gamma 2, accessory subunit JBrowse link 10 94,968,836 94,979,259 RGD:8554872
G Prr29 proline rich 29 JBrowse link 10 94,565,498 94,569,926 RGD:8554872
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:7240710
RGD:8554872
RGD:13208536
RGD:11554173
G Smurf2 SMAD specific E3 ubiquitin protein ligase 2 JBrowse link 10 95,018,050 95,118,107 RGD:8554872
G Tex2 testis expressed 2 JBrowse link 10 94,697,962 94,807,544 RGD:8554872
hypokalemic periodic paralysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1s calcium voltage-gated channel subunit alpha1 S JBrowse link 13 52,889,570 52,964,558 RGD:1300372
RGD:8554872
RGD:11554173
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 JBrowse link 1 165,189,934 165,196,949 RGD:1600040
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:8554872
RGD:11554173
Hypokalemic Periodic Paralysis, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1s calcium voltage-gated channel subunit alpha1 S JBrowse link 13 52,889,570 52,964,558 RGD:7240710
RGD:8554872
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:8554872
RGD:11554173
Hypokalemic Periodic Paralysis, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:7240710
RGD:8554872
RGD:13208531
RGD:13208529
Normokalemic Periodic Paralysis, Potassium-Sensitive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:8554872
Thyrotoxic Periodic Paralysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1s calcium voltage-gated channel subunit alpha1 S JBrowse link 13 52,889,570 52,964,558 RGD:8554872
RGD:11554173
RGD:7240710
G RT1-CE13 RT1 class I, locus CE13 RGD:8655904

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        muscular disease 957
          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 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              muscular disease 957
                familial periodic paralysis 16
                  Normokalemic Periodic Paralysis, Potassium-Sensitive 1
                  hyperkalemic periodic paralysis 12
                  hypokalemic periodic paralysis + 4
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.