THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2

General Information (adopted from Orphanet):

Synonyms, Signs: TTPP2
Number of Symptoms 24
OrphanetNr:
OMIM Id: 613239
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Heterogeneous
[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:0000836) Hyperthyroidism 25 / 7739
3
(HPO:0000853) Goiter 39 / 7739
4
(HPO:0001962) Palpitations 62 / 7739
5
(HPO:0001324) Muscle weakness 859 / 7739
6
(OMIM) Tremor due to hyperthyroidism 2 / 7739
7
(OMIM) Muscle paralysis, episodic 2 / 7739
8
(OMIM) Attacks may present during or after sleep 4 / 7739
9
(OMIM) Muscle weakness, episodic 2 / 7739
10
(OMIM) Hypokalemia during attacks 2 / 7739
11
(OMIM) Proximal muscles more often affected 2 / 7739
12
(OMIM) Increased thyroid hormone 2 / 7739
13
(OMIM) Exophthalmos due to hyperthyroidism 2 / 7739
14
(OMIM) Increased sweating due to hyperthyroidism 2 / 7739
15
(OMIM) Decreased TSH 2 / 7739
16
(OMIM) Enlarged thyroid gland 3 / 7739
17
(OMIM) Tachycardia due to hyperthyroidism 2 / 7739
18
(OMIM) Lower limbs more often affected 2 / 7739
19
(HPO:0001425) Heterogeneous 132 / 7739
20
(OMIM) Muscle aches, cramps 2 / 7739
21
(OMIM) Recovery between attacks 2 / 7739
22
(OMIM) Attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise 4 / 7739
23
(OMIM) Weight loss due to hyperthyroidism 2 / 7739
24
(OMIM) Hypo- or areflexia during attacks 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ryan et al. (2010) evaluated patients with TTPP, as characterized by episodic flaccid paralysis, hypokalemia during the attacks, and laboratory evidence of thyrotoxicosis.
Molecular genetics OMIM Ryan et al. (2010) identified 6 different mutations in the KCNJ18 gene in patients with thyrotoxic periodic paralysis. Four of the mutations (613236.0001-613236.0004) were found to confer susceptibility to the disorder. Although the 2 other mutations were identified ...