THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1

General Information (adopted from Orphanet):

Synonyms, Signs: TTPP1
Number of Symptoms 21
OrphanetNr:
OMIM Id: 188580
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:0000853) Goiter 39 / 7739
2
(HPO:0000836) Hyperthyroidism 25 / 7739
3
(HPO:0001962) Palpitations 62 / 7739
4
(OMIM) Enlarged thyroid gland 3 / 7739
5
(OMIM) Hypo- or areflexia during attacks 2 / 7739
6
(OMIM) Increased thyroid hormone 2 / 7739
7
(OMIM) Recovery between attacks 2 / 7739
8
(OMIM) Muscle aches, cramps 2 / 7739
9
(OMIM) Decreased TSH 2 / 7739
10
(OMIM) Tremor due to hyperthyroidism 2 / 7739
11
(OMIM) Muscle weakness, episodic 2 / 7739
12
(OMIM) Tachycardia due to hyperthyroidism 2 / 7739
13
(OMIM) Hypokalemia during attacks 2 / 7739
14
(OMIM) Muscle paralysis, episodic 2 / 7739
15
(OMIM) Attacks may present during or after sleep 4 / 7739
16
(OMIM) Lower limbs more often affected 2 / 7739
17
(OMIM) Proximal muscles more often affected 2 / 7739
18
(OMIM) Increased sweating due to hyperthyroidism 2 / 7739
19
(OMIM) Weight loss due to hyperthyroidism 2 / 7739
20
(OMIM) Exophthalmos due to hyperthyroidism 2 / 7739
21
(OMIM) Attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Thyrotoxic periodic paralysis is a sporadic muscle disorder characterized by episodic attacks of weakness associated with hypokalemia in individuals with hyperthyroidism. The paralysis resolves upon treatment of hyperthyroidism. The disorder is most common among males of Asian descent, ...
Clinical Description OMIM Among 1,366 consecutive Southern Chinese patients with thyrotoxicosis, McFadzean and Yeung (1967) found that 25 had a history of 1 or more attacks of periodic paralysis, and that 23 of the 25 were male.

Bernard et ...

Molecular genetics OMIM Kung et al. (2004) studied 97 male patients with thyrotoxic periodic paralysis, 77 male Graves disease patients without thyrotoxic periodic paralysis, and 100 normal male subjects, all Chinese. They detected 12 single-nucleotide polymorphisms (SNPs) in the Cav1.1 gene ...
Population genetics OMIM The overall incidence of TTPP in Chinese and Japanese thyrotoxic patients had been estimated at 1.8 and 1.9%, respectively. In North America, the incidence is much lower, at about 0.1 to 0.2% in thyrotoxic patients. The male to ...