HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2

General Information (adopted from Orphanet):

Synonyms, Signs: HOKPP2
Number of Symptoms 18
OrphanetNr:
OMIM Id: 613345
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003768) Periodic paralysis 9 / 7739
2
(HPO:0002900) Hypokalemia 45 / 7739
3
(HPO:0003752) Episodic flaccid weakness 3 / 7739
4
(HPO:0003198) Myopathy 151 / 7739
5
(OMIM) Attacks usually decrease or disappear after age 40 years 2 / 7739
6
(OMIM) Attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise 4 / 7739
7
(OMIM) Progressive interictal weakness is common 2 / 7739
8
(OMIM) Myotonia is usually not seen 2 / 7739
9
(OMIM) Hypokalemia occurs during paralytic attacks 2 / 7739
10
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
(OMIM) Acetazolamide may worsen symptoms 2 / 7739
12
(HPO:0003812) Phenotypic variability 129 / 7739
13
(OMIM) Attacks last 4 to 24 hours 2 / 7739
14
(OMIM) Attacks relieved by potassium administration 2 / 7739
15
(OMIM) Flaccid weakness or paralysis, episodic attacks 3 / 7739
16
(OMIM) Vacuolar myopathy may occur 2 / 7739
17
(OMIM) Tubular aggregates in muscle fibers may occur 2 / 7739
18
(OMIM) Attacks may present during or after sleep 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bulman et al. (1999) reported 2 cousins with HOKPP. The proband experienced a first paralytic attack at age 14 on awakening in the morning, and was found to have a serum potassium of 2.2 mmol/L. Myotonia was not ...
Molecular genetics OMIM Studying families in which linkage to the CACNL1A3 gene had been excluded, Bulman et al. (1999) identified a mutation in the SCN4A gene (603967.0015), and Jurkat-Rott et al. (2000) identified other mutations (603967.0016 and 603967.0017) in the same ...