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ONTOLOGY REPORT - ANNOTATIONS


Term:hyperkalemic periodic paralysis
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Accession:DOID:14451 term browser browse the term
Definition:An autosomal dominant familial disorder which presents in infancy or childhood and is characterized by episodes of weakness associated with hyperkalemia. During attacks, muscles of the lower extremities are initially affected, followed by the lower trunk and arms. Episodes last from 15-60 minutes and typically occur after a period of rest following exercise. A defect in skeletal muscle sodium channels has been identified as the cause of this condition. Normokalemic periodic paralysis is a closely related disorder marked by a lack of alterations in potassium levels during attacks of weakness. (Adams et al., Principles of Neurology, 6th ed, p1481)
Synonyms:exact_synonym: Adynamia Episodica Hereditaria;   Adynamia Episodica Hereditaria with or without Myotonia;   Familial Hyperkalemic Periodic Paralysis;   Gamstorp Disease;   Gamstorp Episodic Adynamy;   HYPERKALEMIC PERIODIC PARALYSIS TYPE 1;   HYPP;   HyperKPP;   HyperPP;   Hyperkalemic Periodic Paralysis Type 2;   Hyperkaliemic Periodic Paralysis Type 2;   Myotonic Periodic Paralysis;   Primary Hyperkalemic Periodic Paralysis;   Sodium Channel Muscle Disease
 narrow_synonym: GAMSTORP DISEASE NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE;   PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS
 primary_id: MESH:D020513
 alt_id: OMIM:170500;   RDO:0000513
 xref: GARD:195;   ICD10CM:G72.3;   NCI:C123429;   ORDO:682
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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:11554173
RGD:13208536
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      musculoskeletal system disease 5541
        muscular disease 1129
          familial periodic paralysis 16
            hyperkalemic periodic paralysis 12
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        peripheral nervous system disease 2368
          neuropathy 2184
            neuromuscular disease 1718
              muscular disease 1129
                familial periodic paralysis 16
                  hyperkalemic periodic paralysis 12
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.