loading...| Preferred Name |
Paralysis, Hyperkalemic Periodic |
| Synonyms |
Hyperkaliemic Periodic Paralysis Type 2 |
| 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) |
| ID |
http://purl.bioontology.org/ontology/MESH/D020513 |
| altLabel |
Hyperkaliemic Periodic Paralysis Type 2 Familial Hyperkalemic Periodic Paralysis Disease, Gamstorp Myotonic Periodic Paralysis HyperKPP Sodium Channel Muscle Disease Hyperkalemic Periodic Paralysis, Familial HyperPP Gamstorp Episodic Adynamy Adynamia Episodica Hereditaria with or without Myotonia Paralysis, Periodic, Hyperkalemic, Familial Adynamia Episodica Hereditaria Hyperkalemic Periodic Paralysis Type 2 Primary Hyperkalemic Periodic Paralysis Hyperkalemic Periodic Paralysis Gamstorp Disease |
| 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 |
| cui |
C3489447 C0238357 |
| DC |
1 |
| 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) |
| DX |
20000101 |
| FX |
D062553 D006947 |
| HN |
2000 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Inverse of SIB | |
| Machine permutation |
2000 |
| MDA |
19991103 |
| MMR |
20130708 |
| MN |
C18.452.648.618.711.600 C16.320.565.618.711.600 C05.651.701.600 C10.668.491.650.600 |
| notation |
D020513 |
| prefLabel |
Paralysis, Hyperkalemic Periodic |
| TERMUI |
T817415 T817411 T372444 T372448 T843491 T358224 T817409 T817412 T372449 T817410 T843490 T843009 T372445 T372446 T372450 T372447 |
| TH |
NLM (2013) NLM (2000) NLM (2014) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |