Link to this page
Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/D020513
http://purl.bioontology.org/ontology/MESH/D020513
|
|---|---|
| Preferred Name | Paralysis, Hyperkalemic Periodic |
| Definitions |
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 |
Hyperkaliemic Periodic Paralysis Type 2
HyperKPP
Hyperkalemic Periodic Paralysis
Adynamia Episodica Hereditaria
Gamstorp Episodic Adynamy
Hyperkalemic Periodic Paralysis Type 2
Myotonic Periodic Paralysis
Gamstorp Disease
HyperPP
Primary Hyperkalemic Periodic Paralysis
Sodium Channel Muscle Disease
Paralysis, Periodic, Hyperkalemic, Familial
Hyperkalemic Periodic Paralysis, Familial
Adynamia Episodica Hereditaria with or without Myotonia
Familial Hyperkalemic Periodic Paralysis
Disease, Gamstorp
See more
See less
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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) |
|---|---|
| altLabel |
Hyperkaliemic Periodic Paralysis Type 2
HyperKPP
Hyperkalemic Periodic Paralysis
Adynamia Episodica Hereditaria
Gamstorp Episodic Adynamy
Hyperkalemic Periodic Paralysis Type 2
Myotonic Periodic Paralysis
Gamstorp Disease
HyperPP
Primary Hyperkalemic Periodic Paralysis
Sodium Channel Muscle Disease
Paralysis, Periodic, Hyperkalemic, Familial
Hyperkalemic Periodic Paralysis, Familial
Adynamia Episodica Hereditaria with or without Myotonia
Familial Hyperkalemic Periodic Paralysis
Disease, Gamstorp
See more
See less
|
| prefLabel | Paralysis, Hyperkalemic Periodic
|
| Machine permutation | 2000
|
| HN | 2000
|
| type | |
| tui | T047
|
| TERMUI |
T843490
T372444
T358224
T817415
T817412
T817409
T843009
T372450
T843491
T372446
T372448
T817411
T817410
T372445
T372449
T372447
See more
See less
|
| TH |
OMIM (2013)
NLM (2000)
NLM (2013)
GHR (2014)
NLM (2014)
ORD (2010)
See more
See less
|
| MMR | 20130708
|
| notation | D020513
|
| Inverse of RO | |
| Semantic type UMLS property | |
| Inverse of AQ |
See more
See less
|
| FX |
D006947
D062553
|
| DX | 20000101
|
| cui |
C3489447
C0238357
|
| DC | 1
|
| MN |
C10.668.491.650.600
C05.651.701.600
C18.452.648.618.711.600
C16.320.565.618.711.600
|
| AQL | BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
|
| MDA | 19991012
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |