Central Core Myopathy malady

NIH Rare Diseases: Central core disease (CCD) is an inherited condition that involves muscle weakness, skeletal abnormalities, and an increased chance of having a severe reaction to some anesthesia medications.  Muscle weakness ranges from mild to severe and typically affects muscles in the trunk and upper legs, though muscles in the neck and face can also be affected.  Muscle weakness in CCD usually does not worsen over time.  Skeletal abnormalities may include curving of the spine (scoliosis), dislocation of the hip, or restricted motion in certain joints (contractures).  Some individuals with CCD have an increased chance of having a severe reaction to anesthesia, called malignant hyperthermia, which may cause muscle rigidity or break-down (rhabdomyolysis), a high fever, or a rapid heart beat.  RYR1 is the only gene associated with CCD and clinical testing is available to look for disease-causing alterations in this gene known as mutations.³⁰

MalaCards: Central Core Myopathy, also known as central core disease, is related to malignant hyperthermia and malignant hyperthermia susceptibility. An important gene associated with Central Core Myopathy is CACNA1S (calcium channel, voltage-dependent, L type, alpha 1S subunit), and among its related pathways are nNOS Signaling in Skeletal Muscle and Netrin Signaling. The compounds nifedipine and dihydropyridine have been mentioned in the context of this disorder. Affiliated tissues include heart and skeletal muscle, and related mouse phenotypes are limbs/digits/tail and adipose tissue.

Genetics Home Reference: Central core disease is a disorder that affects muscles used for movement (skeletal muscles). This condition causes muscle weakness that ranges from almost unnoticeable to very severe.¹⁷

Wikipedia: Central core disease (CCD), also known as central core myopathy, is an autosomal dominantcongenital...⁴⁴ more...

OMIM: 117000

GeneReviews summary for cco

Aliases & Descriptions:

central core myopathy 6 8 central core disease 6 7 15 30 16 17 33 32 myopathy, central core 30 17 shy-magee syndrome 30 17 cco 30 17 ccd 30 17 central core myopathy (disorder) 43

central core disease (disorder) 6 central core disease of muscle 30 muscular central core disease 30 myopathy, central fibrillar 30 muscle core disease 30 myopathy 43

Diseases related to central core myopathy by text searches and GeneDecks gene sharing:

(show top 50)    (show all 323)

id	Related Disease	Score	Top Affiliating Genes
1	malignant hyperthermia	33.7	RYR1, CACNA1S
2	malignant hyperthermia susceptibility	29.6	CACNA1S, RYR1
3	myopathy	28.7	RYR1, CACNA1S
4	hypokalemic periodic paralysis	24.8	RYR1, CACNA1S
5	paralysis	24.7	CACNA1S, RYR1
6	myasthenia gravis	24.6	RYR1, CACNA1S
7	mayer-rokitansky-kuster-hauser syndrome	12.3	RYR1, CACNA1S
8	congenital myasthenic syndrome	12.2	RYR1, CACNA1S
9	secondary hyperparathyroidism of renal origin	12.1	CACNA1S, RYR1
10	hyperparathyroidism	12.0	RYR1, CACNA1S
11	dmd-associated dilated cardiomyopathy	11.8	RYR1, CACNA1S
12	nemaline myopathy	10.2
13	inclusion body myopathy	9.8
14	centronuclear myopathy	9.6
15	myofibrillar myopathy	9.1
16	inclusion body myopathy 2	9.1
17	bethlem myopathy	8.9
18	miyoshi myopathy	8.7
19	muscular dystrophy	8.4
20	laing distal myopathy	8.2
21	vacuolar myopathy	8.2
22	dementia	7.9
23	inclusion body myopathy with early-onset paget disease and frontotemporal dementia	7.9
24	myopathy congenital	7.9
25	distal myopathy with vocal cord weakness	7.8
26	frontotemporal dementia	7.8
27	hereditary myopathy with early respiratory failure	7.6
28	myositis	7.6
29	x-linked centronuclear myopathy	7.6
30	inclusion body myositis	7.5
31	limb-girdle muscular dystrophy	7.5
32	myopathy with deficiency of iron-sulfur cluster assembly enzyme	7.5
33	neutral lipid storage disease with myopathy	7.5
34	paget's disease of bone	7.5
35	actin-accumulation myopathy	7.4
36	multiminicore disease	7.4
37	myopathy with deficiency of iscu	7.4
38	rod myopathy	7.4
39	salih myopathy	7.4
40	mitochondrial encephalomyopathy	7.3
41	mitochondrial myopathy and sideroblastic anemia	7.3
42	x-linked dominant scapuloperoneal myopathy	7.3
43	congenital fiber-type disproportion	7.3
44	inclusion body myopathy with paget disease of bone and/or frontotemporal dementia	7.3
45	lactic acidosis	7.3
46	brody myopathy	7.2
47	cap myopathy	7.2
48	idiopathic myopathy	7.2
49	inclusion body myopathy 3	7.2
50	x-linked myopathy with excessive autophagy	7.2

Clinical features from OMIM: 117000

Approved drugs:

Drug clinical trials:

Genetic tests related to central core myopathy:

id	Genetic test	Affiliating Genes
1	Central Core Myopathy clinical/research	RYR1

MalaCards organs/tissues related to central core myopathy:

²²

MGI Mouse Phenotypes related to central core myopathy:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	limbs/digits/tail phenotype	MP:0005371	9.1	RYR1, CACNA1S
2	adipose tissue phenotype	MP:0005375	8.8	RYR1, CACNA1S

Articles related to central core myopathy:

id	Title	Authors	Year	Affiliating Genes
1	Central core myopathy with RYR1 mutation masks 5q spi nal muscular atrophy. (20452790)	Pandey R.... Quinlivan R.	2011	RYR1

Genes related to central core myopathy according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	CACNA1S	calcium channel, voltage-dependent, L type, alpha 1S subunit	11.0
2	RYR1	ryanodine receptor 1 (skeletal)	11.0	Publications

Pathways related to central core myopathy according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	nNOS Signaling in Skeletal Muscle36	9.3	RYR1, CACNA1S
2	Netrin Signaling36	9.3	RYR1, CACNA1S
3	Beta-Adrenergic Signaling36	9.3	RYR1, CACNA1S
4	Presenilin-Mediated Signaling36	9.2	RYR1, CACNA1S
5	Calcium signaling pathway20	9.2	CACNA1S, RYR1
6	PKA Signaling36	9.1	RYR1, CACNA1S
7	cAMP Pathway36	9.1	RYR1, CACNA1S
8	Intracellular Calcium Signaling36	9.0	RYR1, CACNA1S
9	Activation of cAMP-Dependent PKA36	8.8	RYR1, CACNA1S

Compounds related to central core myopathy according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	nifedipine32 9 9	11.1	RYR1, CACNA1S
2	dihydropyridine32	9.0	RYR1, CACNA1S
3	ryanodine32	8.8	RYR1, CACNA1S

Cellular components related to central core myopathy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	sarcoplasmic reticulum	GO:016529	9.1	RYR1, CACNA1S
2	I band	GO:031674	9.0	RYR1, CACNA1S
3	T-tubule	GO:030315	8.8	RYR1, CACNA1S

Biological processes related to central core myopathy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	muscle contraction	GO:006936	9.1	RYR1, CACNA1S
2	calcium ion transport	GO:006816	8.8	RYR1, CACNA1S

Molecular functions related to central core myopathy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	voltage-gated calcium channel activity	GO:005245	9.1	RYR1, CACNA1S