MCID: MYP101
MIFTS: 53

Myopathy, Centronuclear malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

Aliases & Classifications for Myopathy, Centronuclear

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Aliases & Descriptions for Myopathy, Centronuclear:

Name: Myopathy, Centronuclear 49 11 23
Centronuclear Myopathy 10 45 23 47 12 65
Myopathy, Centronuclear, 1 45 22 24 67
Autosomal Dominant Centronuclear Myopathy 45 22 51
Myotubular Myopathy, Autosomal Dominant 45 22
Autosomal Dominant Myotubular Myopathy 65 67
Myopathy, Myotubular 23 24
Myotubular Myopathy 10 23
Cnm1 22 67
 
Centronuclear Myopathy, Autosomal, Modifier of 49
Myopathy, Centronuclear, Autosomal Recessive 65
Myopathy, Centronuclear, Autosomal Dominant 65
Autosomal Recessive Centronuclear Myopathy 65
Centronuclear Myopathy Autosomal Dominant 67
Dnm2-Related Centronuclear Myopathy 45
Myopathies, Structural, Congenital 36
Congenital Structural Myopathy 65
Ad-Cnm 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
autosomal dominant centronuclear myopathy:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Childhood,Infancy


External Ids:

OMIM49 160150
Disease Ontology10 DOID:14717
MeSH36 D020914
ICD9CM29 359.0
SNOMED-CT59 193223007, 82077006
Orphanet51 169189
ICD10 via Orphanet28 G71.2
MedGen34 C1834558

Summaries for Myopathy, Centronuclear

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OMIM:49 Autosomal dominant centronuclear myopathy is a congenital myopathy characterized by slowly progressive muscular... (160150) more...

MalaCards based summary: Myopathy, Centronuclear, also known as centronuclear myopathy, is related to minicore myopathy with external ophthalmoplegia and myopathy of extraocular muscle, and has symptoms including muscular hypotonia, gait disturbance and skeletal muscle atrophy. An important gene associated with Myopathy, Centronuclear is DNM2 (Dynamin 2), and among its related pathways are 3-phosphoinositide degradation and Glycerophospholipid biosynthesis. Affiliated tissues include skeletal muscle and eye, and related mouse phenotypes are muscle and behavior/neurological.

Disease Ontology:10 A myopathy characterized by abnormally located nuclei in skeletal muscle cells. the nuclei are located in the center of the cell, instead of their normal location at the periphery.

Genetics Home Reference:23 Centronuclear myopathy is a condition that is characterized by muscle weakness (myopathy) in the skeletal muscles, which are used for movement. Researchers have described two forms of centronuclear myopathy, which are differentiated by their pattern of inheritance: autosomal dominant and autosomal recessive.

NIH Rare Diseases:45 Autosomal dominant centronuclear myopathy (ad-cnm) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. in ad-cnm, specifically, the severity of the condition and the associated signs and symptoms vary significantly among affected people. in people with a mild form, features of the condition generally don't develop until adolescence or early adulthood and may include slowly progressive muscle weakness, muscle pain with exercise and difficulty walking. although some affected people will eventually lose the ability to walk, this usually does not occur before the 6th decade of life. in more severe cases, affected people may develop symptoms during infancy or early childhood such as hypotonia and generalized weakness. these children generally have delayed motor milestones and often need wheelchair assistance in childhood or adolescence. most cases of ad-cnm are caused by changes (mutations) in the dnm2 gene; however, some affected families are reported to have mutations in the myf6 or ccdc78 genes. the condition is inherited in an autosomal dominant manner. treatment is based on the signs and symptoms present in each person and may include physical and/or occupational therapy and assistive devices to help with mobility, eating and/or breathing. last updated: 8/5/2015

UniProtKB/Swiss-Prot:67 Myopathy, centronuclear, 1: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.

Related Diseases for Myopathy, Centronuclear

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Diseases in the Myopathy, Centronuclear family:

Centronuclear Myopathy 5 Myopathy, Centronuclear, 3
Myopathy, Centronuclear, 4 Myopathy, Centronuclear, Autosomal Recessive

Diseases related to Myopathy, Centronuclear via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1minicore myopathy with external ophthalmoplegia30.6DES, DMD, RYR1
2myopathy of extraocular muscle30.3DES, MTM1, RYR1, TTN
3lethal congenital contracture syndrome 527.9BIN1, CCDC78, CDKN3, DES, DMD, DNM2
4myopathy10.8
5myopathy, centronuclear, autosomal recessive10.7
6myopathy, centronuclear, 310.7
7myopathy, centronuclear, 410.6
8cardiomyopathy10.6
9muscle disorders10.5
10congenital structural myopathy10.5
11neuromuscular disease10.5
12x-linked disease10.5
13myopathy congenital10.5
14myotonia10.5
15muscle tissue disease10.5
16respiratory system disease10.5
17neuropathy10.4
18hepatitis10.4
19peliosis hepatis10.4
20centronuclear myopathy 510.4
21myotubular myopathy, x-linked10.4
22cataract10.4
23dilated cardiomyopathy10.4
24neutropenia10.4
25hypotonia10.3
26n-terminal acetyltransferase deficiency10.3DNM2, MTM1
27charcot-marie-tooth disease, type 4b210.3MTM1, SBF2
28kidney rhabdoid cancer10.3DNM2, MTM1
29mixed cell adenoma10.3DES, MYF6
30d ercole syndrome10.3DES, DMD
31whiplash10.3DES, TTN
32interleukin 1 receptor antagonist deficiency10.2BIN1, SPEG, TTN
33lmna-related muscle diseases10.2DMD, TTN
34charcot-marie-tooth neuropathy type 4j10.2MTMR2, SBF1, SBF2
35central core disease10.2
36congestive heart failure10.2
37malignant hyperthermia10.2
38peripheral neuropathy10.2
39myotonic dystrophy10.2
40congenital fiber-type disproportion10.2
41charcot-marie-tooth neuropathy10.2
42congenital myopathy with internal nuclei and atypical cores10.2
43myopathy congenital multicore with external ophthalmoplegia10.2MTM1, RYR1
44focal palmoplantar keratoderma10.2DES, TTN
45fanconi anemia, complementation group c10.2
46charcot-marie-tooth disease10.2
47spinal muscular atrophy10.2
48foster-kennedy syndrome10.2
49intrahepatic cholestasis10.2
50nemaline myopathy10.2

Graphical network of the top 20 diseases related to Myopathy, Centronuclear:



Diseases related to myopathy, centronuclear

Symptoms for Myopathy, Centronuclear

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Symptoms by clinical synopsis from OMIM:

160150

Clinical features from OMIM:

160150

HPO human phenotypes related to Myopathy, Centronuclear:

(show all 25)
id Description Frequency HPO Source Accession
1 muscular hypotonia hallmark (90%) HP:0001252
2 gait disturbance hallmark (90%) HP:0001288
3 skeletal muscle atrophy hallmark (90%) HP:0003202
4 emg abnormality hallmark (90%) HP:0003457
5 mask-like facies typical (50%) HP:0000298
6 ptosis typical (50%) HP:0000508
7 ophthalmoparesis typical (50%) HP:0000597
8 seizures typical (50%) HP:0001250
9 reduced tendon reflexes typical (50%) HP:0001315
10 respiratory insufficiency typical (50%) HP:0002093
11 scoliosis typical (50%) HP:0002650
12 arrhythmia typical (50%) HP:0011675
13 skeletal muscle hypertrophy rare (5%) HP:0003712
14 autosomal dominant inheritance HP:0000006
15 ptosis HP:0000508
16 external ophthalmoplegia HP:0000544
17 motor delay HP:0001270
18 areflexia HP:0001284
19 flexion contracture HP:0001371
20 easy fatigability HP:0003388
21 slow progression HP:0003677
22 centrally nucleated skeletal muscle fibers HP:0003687
23 proximal muscle weakness HP:0003701
24 sleepy facial expression HP:0005335
25 facial palsy HP:0010628

Drugs & Therapeutics for Myopathy, Centronuclear

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Drugs for Myopathy, Centronuclear (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1tyrosineNutraceuticalPhase 2547
2
Mentholapproved17482216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
999 Itch Relief
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
Absorbine Back Therapeutic Pain Relief
Absorbine Jr
Absorbine Jr Ultra Strength Pain Relieving
Absorbine Jr.
Absorbine Jr. Back
Algomend Pain Relief
Alhua Huogan Pain Relieving Patch
Aloemint Skin Aid
Amar Ice
Analgesic
Anc Neverpain External Analgesic
Anti Itch
Army Health Pain Reliever
Arthri-support
Arthri-zen Relief
Arthripain Relief
Arthritis Relief
Aspercreme Heat
Aspercreme Max No Mess Roll On
Assured Cold N Hot Pain Relief Menthol
Assured Extra Strength Cold N Hot
Assured Ice Cold Topical Analgesic
Assured Muscle Rub
Assured Pain Relief Hot Menthol
Atopalm Pain Relieving
Aurorae Healing Pain Relieving Roll-on
Avapta
Avedana Pain Relieving Roll On
Avedana Pain-relieving
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
Babyganics Cold Relief Chest Rub
Barox
Barox BODY CARE MASSAGE
Barox Body Care Massage Relax Refresh Revital
Being Well Extra Strength Menthol Heat
Bengay Ultra Strength Large Size
Bengay Ultra Strength Pain Relieving Large Size
Bengay Ultra Strength Pain Relieving Regular Size
Bengay Ultra Strength Regular Size
Bengay Vanishing Scent
Bengay Zero Degrees Menthol Pain Relieving
Bentasil SUGAR FREE BLACKCURRANT SOFT Texture
Bentasil SUGAR FREE CHERRY SOFT Texture
Bentasil SUGAR FREE HONEY LEMON SOFT Texture
Berri-freez
Besthealth Cherry
Besthealth Cough Suppressant Sugar Free Black Cherry Flavor
Besthealth Cough Suppressant Sugar Free Honey Lemon Flavor
Besthealth Honey Lemon
Besthealth Menthol
Bio 2 Brazilian Heat Brazilian Heat
Bio-scriptives Extreme Pr
Bioblast Pain Relief
Bioflexor
Biofreeze
Biofreeze Colorless
Biofreeze Colorless Roll-on
Biofreeze Roll-on
Biorelief Ice Pain Relieving
Blistex Ivarest Medicated Poison Ivy Cleansing Foam
Blue Gel Pain Relieving
Blue Ice
Blue Ice Analgesic
Blue Ice Analgesic Gel
Blue Ice Pain Relieving
Body
Budpack Muscle Rub
Budpak Muscle Rub
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Canker Complete Canker Sore Relief
Caswell No. 540
Celadrin
Cepacol Sore Throat From Post Nasal Drip
Cepacol Sore Throat Regular Strength
Ching Wan Hung Soothing Herbal Balm
Choice Personal Care Theraputic Blue Ice
Cold Hot Patch
Cold Spot Point Relief
Coldaid
Cool N Heat Patch For Back Extra Strength
Coralite Extra Strength Menthol Pain Relief Sleeve - Knee
Coralite Extra Strength Menthol Pain Relief Sleeve - Wrist
Coralite Pain Relief
Counteract Cough Drops Honey Lemon
Counteract Cough Drops Orchard Cherry
Cryogel Island Rain Natural Pain Relieving Vitaminerals
Cvs Cold Hot Medicated
Cvs Soothing Itch Relief
Cvs Sore Muscle Rub Vanishing Scent
Cvs Therapeutic Menthol Gel
Cvs Therapeutic Menthol Pain Reliever
Cvs Tropical Citrus Cough
Cvs Ultra Strength Pain Relieving
Cvs Vanishing Scent Muscle Rub
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
Dg Health Extra Strength Medicated
Dg Health Pain Relieving
Dg Ice Cold Analgesic
Diapedic Foot Treatment
DivK1c_000820
Dorflex Icy Hot Flexible, Large
Dorflex Icy Hot Flexible, Small
Dorflex Icy Hot Flexible, XL
Dr. Blue
Dt Ice Cold Analgesic
Dual Action Cherry Cough Suppressant Oral Anesthetic
Dynafreeze
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
Easy
Eb301ap Pain Relief
Eb301ct Bruise Pain Relief
Eb302 Arthritis Relief
Ecolyptus Pain Relieving Muscle Rub
Efac Pain Relieving
Elgin Pain Relief
Equaline Blue Ice Pain Relieving
Equate Menthol Extra Strength
Eros Iron Man
Eucalyptamint
Eucerin Calming Itch Relief Treatment
Extra Strength Cold N Hot Pain Relief Medicated
Extra Strength Pain Relief Therapy
Extra Strength Stopain Cold Pain Relieving
Extra Strength Stopain Cold Pain Relieving Roll On
FEMA No. 2665
Family Care Maximum Strength Medicated Anti Itch
Fast Freeze
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
Flexall Pain Relieving
Flexgen
Fluaid
Foot Works Achy Foot Massager Pain Relieving
Gold Bond Foot Extra Strength
Gold Bond Medicated Foot
Gold Bond Pain Relieving Foot
Gold Bond Pain Relieving Foot Roll On
Green Bamboo
Green Guard Cough Drop Relief
HMS1922G13
HMS2092L14
HMS502I22
HSDB 5662
HSDB 593
Halls Apple Cider
Halls Butterscotch
Halls Cherry
Halls Extra Strong Menthol
Halls Honey Lemon
Halls Ice Peppermint
Halls MENTHO-LYPTUS
Halls Melon Splash
Halls Menthol
Halls Mentholyptus
Halls Mocha Mint
Halls Naturals Honey Lemon Chamomile
Halls Plus Cherry
Halls Plus Honey
Halls Plus Strawberry
Halls Spearmint
Halls Strawberry
Halls Sugar Free Black Cherry
Halls Sugar Free Citrus Blend
Halls Sugar Free Extra Strong Menthol
Halls Sugar Free Honey Berry
Halls Sugar Free Honey Lemon
Halls Sugar Free Mountain Menthol
Halls Tropical Fruit
Hallsmelon Splash Melon Splash
Hallssugar Free Extra Sugar Free Extra Strong Menthol
Han Honey Loquat Syrup
Hanbang Cataplasma
Harmon Extra Strength Pain Relieving
Harmon Extra Strength Pain Relieving Roll-on
Headache crystals
Health Smart Medicated Foot
Herbion Naturals Honey Lemon
Herbion Naturals Honey Lemon Cough Drops
Herbion Naturals Honey-Lemon Cough Drops
Herbion Naturals Mint Cough Drops
Herbion Naturals Orange
Herbion Naturals Orange Cough Drops
Hexahydrothymol
Hielo Ardiente
Honibe
 
Hot Ice Soothing Analgesic Gel
Huitomi Slimming Sports
Humphreys Bendito Alcoholado
I06-1216
I14-7371
IDI1_000820
Ice
Ice Cold Analgesic
Ice Cold Topical Analgesic Gel
Ice External Analgesic Leader
Ice Quake
Ice Quake Muscle Rub
Icy Cool Maximum Strength
Icy Hot
Icy Hot Back
Icy Hot Medicated
Icy Hot Medicated No Mess Applicator
Icy Hot Medicated Roll Large
Icy Hot Medicated Roll Medium
Icy Hot Medicated Roll, Large
Icy Hot Medicated Roll, Medium
Icy Hot Medicated, Advanced Relief
Icy Hot Medicated, Back
Icy Hot Medicated, XL
Icy Hot Naturals
Icy Hot Power Gel
Icy Hot Vanishing Scent
Icyhot Medicated
Imada Four Seasons Safe Analgesic Balm
Jakemans Blueberry
Jakemans Cherry
Jakemans Peppermint
K2 Cold Therapy
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
Kay Medic Menthol Pain Relief
Kool Comfort
Kool Comfort Pain Relieving Roll-on
Kpp Triple Action
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
La Jiao Feng Shi Gao
Lander Polar Ice
Leader Cough Drops Cherry Flavor
Leader Cough Drops Honey Lemon
Leader Cough Drops Menthol Flavor
Leader Extra Strength Medicated Pain Relief Patch
Leader Sugar Free Cough Drops Black Cherry
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
Linkus Lozenges Cough Suppressant/Oral Anesthetic
Low Sugar Cherry Flavor Fishermans Friend Menthol Cough Suppressant
Ludens Honey Lemon Throat Drops
Ludens Honey Licorice Throat Drops
Ludens Original Menthol Throat Drops
Lurosil
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Makesense Extra Strength Muscle Rub
Maxfit Freeze Gel
Maybelline New York Baby Lips Dr Rescue Medicated Balm
Medi First Plus Cherry Cough Drops
Medi-first Cherry Cough Drops
Medic Ice
Medicated Body Powder
Medicated Pain Relief
Mediflex
Medique Medikoff Drops
Medique Sugar Free Medikoff Drops
Meditowel PAIN RELIEF
Meijer Cherry Cough Drops
Meijer Honey Lemon Cough Drops
Meijer Menthol Cough Drops
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol Fresh Cough Suppressant
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Mentholatum Pain Relief Extra Strength
Mentholatum Sports Pain Relief Cold
Menthomenthol
Menthyl alcohol
Mineral Ice Pain Relieving
Miracle Foot Repair
Miracle Foot Repair Cream
Miracle Of Aloe Rub Roll On
Miracle Pain Cream
Moisture Therapy Anti-Itch
MolPort-000-849-729
MolPort-001-793-392
Moore Medical Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Black Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Menthol Cough Suppressant/anesthetic Drops
Mr Dudleys Topical Pain Relief
Muscle
Muscle Rub Ultra Strength Pain Relieving
Myo-breathe
Myorx Low Dose Pain Relieving
Myorx Pain Relieving
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Nan San Easy Flex Pain Relieving
Natural Cherry Honey Herb Throat Drops
Natural Herb cough drop
Natural Honey Herb Cough Suppressant Throat Drops
Natural Lemon Mint Herb Throat Drops
Natural Pain Relieving Lavender Breeze Cryogel
Natures Choice Cool Hot Ice
Natures Sunshine Products Everflex Topical Analgesic Pain Relief
Neoisomenthol
Nice Assorted
Nice Cherry
Nice Citrus
Nice Cool Mint
Nice Honey Lemon
Nice Menthol
No Pain More Gain
North Cough Drop
Numotizine
Olbas Lozenges Maximun Strength
Olbas Pastilles
Original Extra Strong All Natural Fishermans Friend Menthol Cough Suppressant
Ortho-nesic
Osmoflex
Oxyrub Pain Relief
Pain Relief Balmpreferred Plus Ph Preferred Plus Pharmacy
Pain Relief Therapy Patch
Pain Reliever
Pain Relieving
Pain Relieving Analgesic
Pain Relieving Patch
Pain Relieving Patch Ultra Strength
Pain Relieving Patch Ultra Strength ULTRA STRENGTH
Panitrol XR
Paraid Extra Strength Menthol Pain Relief Sleeve Knee Large Ankles Elbows
Patch Scherer Labs
Patch Walgreens
Peppermint camphor
Perfect Purity Hotice
Perfect Purity Medicated Foot Powder
Perform
Personal Care Extra Strength Cold Hot
Personal Care Ice Cold
Plaster MandAHerbalPlaster
Po Sum On Medicated
Polar Frost Cold
Power Relief
Preferred Plus Body Powder
Premier Value Medicated Foot Powder
Q Health Pain Relief Spray
Quickflex
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Raw Heat
Raw Ice
Reactice Reactivating Ice Baume
Red Lion Relief
Relief Pain Relieving Cream
Rexall Vanishing Scent Pain Relieving
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Screamin Menthol Toast
Sella Natural
Skin So Soft Bug Guard Plusitch Relief itch relief
Smith Bros Honey Lemon Cough Drops
Smith Bros Menthol Eucalyptus Cough Drops
Smith Bros Sugar-free Black Cherry Cough Drops
Sof Skin Icy Blue
Sofskin Ice Analgesic
Sombra Cool Therapy
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Stopain Cold Pain Relieving
Stopain Cold Professional Strength Pain Relieving
Stopain Extra Strength Pain Relieving
Sub-zero COOL PAIN RELIEVING
Sugar Free Cherry Fishermans Friend Menthol Cough Suppressant
Sugar Free Cherry Herb Throat Drops
Sugar Free Lemon Mint Herb Throat Drops
Sugar Free Mountain Herb Cough Suppressant Throat Drops
Sugar Free Original Swiss Herb Cough Suppressant Throat Drops
Sugar Free Refreshing Mint Fishermans Friend Menthol Cough Suppressant
Sugar Free Swiss Cherry Herb Throat Drops
The Medicine Shoppe Extra Strength Pain Relieving
The Original Natural Herb Cough Drops
Therafreeze
Theraid
Therapeutic Relief Preferred Plus Pharmacy
Theraplus Plus
Throat Coat
Tianhe Guben Yaoshen Tie Gao
Top Care Medicated
Topcare Medicated
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
Ultra Strength Stopain Pain Relieving
Us Favorite Cold Pain Relieving
Vaporizing Colds Rub
Vicks Vapodrops Cough Relief
Vitaminerals Inc. Cryogel Natural Pain Relieving
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
Walgreens Aloe Vera Cooling
Watermelon Frost Sore Throat
Wellpatch Backache Pain Relief
Xtracare Ice Cold Topical Analgesic Gel
Youngevity Invision CM
Yun Xiang Jing
ZINC01482164
Zhong Hua Jiu Patch
Zims Arnica Max
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
3
Adenosineapproved, investigational34058-61-760961
Synonyms:
(2R,3R,4S,5R)-2-(6-Aminopurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3R,4S,5R)-2-(6-amino-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-delta-Ribofuranose
1odi
2fqy
2gl0
30143-02-3
4-Aminopyrazolo[3,4-d]pyrimidine ribonucleoside
46946-45-6
46969-16-8
58-61-7
6-Amino-9-.beta.-ribofuranosyl-9H-purine
6-Amino-9-beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-delta-ribofuranosyl-9H-purine
9-(beta-D-Arabinofuranosyl)adenine
9-beta-D-Arabinofuranosyladenine
9-beta-D-Ribofuranosidoadenine
9-beta-D-Ribofuranosyl-9H-purin-6-amine
9-beta-D-Ribofuranosyladenine
9-beta-delta-Arabinofuranosyladenine
9-beta-delta-Ribofuranosidoadenine
9-beta-delta-Ribofuranosyl-9H-purin-6-amine
9-beta-delta-Ribofuranosyladenine
9beta-D-Ribofuranosyladenine
9beta-D-ribofuranosyl-9H-Purin-6-amine
9beta-delta-Ribofuranosyladenine
9beta-delta-ribofuranosyl-9H-Purin-6-amine
A0152
A4036_SIGMA
A9251_SIGMA
AC1L1U8O
AC1Q1ID3
AC1Q52XU
ADN
AI3-52413
Ade-Rib
Ade-rib
Adenin riboside
Adenine 9-beta-D-arabinofuranoside
Adenine deoxyribonucleoside
Adenine nucleoside
Adenine riboside
Adenine-9-beta-D-ribofuranoside
Adenine-9beta-D-Ribofuranoside
Adenine-9beta-delta-Ribofuranoside
Adenocard
Adenocard (TN)
Adenocard, Adenosine
Adenocor
Adenoscan
Adenoscan (TN)
Adenosin
Adenosin [German]
Adenosina
Adenosine
Adenosine (JAN/USP)
Adenosine [USAN:BAN]
Adenosine, homopolymer
Adenosinum
Adensoine
Adenyldeoxyriboside
Ado
Adénosine
BB_NC-0565
BSPBio_001796
Bio1_000437
 
Bio1_000926
Bio1_001415
Boniton
C00212
CCRIS 2557
CHEBI:16335
CHEMBL477
CID60961
Caswell No. 010B
D000241
D00045
DB00640
Deoxyadenosine
Desoxyadenosine
EA6C60C2-6AFB-4264-A2F0-541373DB950E
EINECS 200-389-9
FT-0082881
HMS1920A13
HMS2091G13
KBio3_001296
LS-15085
MEDR-640
MLS000069638
MLS002153227
MolPort-001-838-229
Myocol
NCGC00023673-03
NCGC00023673-04
NCGC00023673-05
NCGC00023673-06
NCGC00023673-07
NSC 627048
NSC 7652
NSC627048
NSC7652
Nucleocardyl
Pallacor
Polyadenosine
Polyriboadenosine
S1647_Selleck
SDCCGMLS-0003108.P003
SMR000058216
SPBio_001194
SPECTRUM1500107
SR 96225
SR-96225
SUN-Y4001
Sandesin
Spectrum2_001257
Spectrum3_000288
TL8003749
UNII-K72T3FS567
USAF CB-10
V0098
Vidarabine
ZINC02169830
adenine-D-ribose
adenosine
b-D-Adenosine
beta-Adenosine
beta-D-Adenosine
beta-D-Ribofuranoside, adenine-9
beta-delta-Adenosine
bmse000061
nchembio.143-comp9
nchembio.186-comp109
nchembio.2007.56-comp13
nchembio.64-comp4
nchembio706-5

Interventional clinical trials:

idNameStatusNCT IDPhase
1Treatment of TNNT1-Myopathy With L-Tyrosine.Enrolling by invitationNCT02035501Phase 2
2Myotubular Myopathy Genetic Testing StudyRecruitingNCT01817946
3Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)RecruitingNCT02453152
4Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)RecruitingNCT02057705
5A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)RecruitingNCT02231697
6Molecular and Genetic Studies of Congenital MyopathiesRecruitingNCT00272883
7Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
8Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related ConditionsRecruitingNCT01306994
9Myotubular Myopathy Event StudyActive, not recruitingNCT01840657
10LAMA2-related Muscular Dystrophy Brain StudyWithdrawnNCT01952028

Search NIH Clinical Center for Myopathy, Centronuclear


Cochrane evidence based reviews: Myopathies, Structural, Congenital

Genetic Tests for Myopathy, Centronuclear

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Genetic tests related to Myopathy, Centronuclear:

id Genetic test Affiliating Genes
1 Centronuclear Myopathy 122 DNM2
2 Myotubular Myopathy24
3 Myopathy, Centronuclear, 124

Anatomical Context for Myopathy, Centronuclear

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MalaCards organs/tissues related to Myopathy, Centronuclear:

33
Skeletal muscle, Eye

Animal Models for Myopathy, Centronuclear or affiliated genes

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MGI Mouse Phenotypes related to Myopathy, Centronuclear:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6BIN1, DES, DMD, DNM2, MTM1, MTMR14
2MP:00053868.2BIN1, DES, DMD, MTM1, MTMR14, MTMR2
3MP:00107688.0BIN1, DES, DMD, DNM2, MTM1, MTMR2
4MP:00053767.8BIN1, DES, DMD, MTM1, MTMR14, MTMR3

Publications for Myopathy, Centronuclear

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Articles related to Myopathy, Centronuclear:

idTitleAuthorsYear
1
Pathological cases of the month. Myotubular myopathy (centronuclear myopathy). (8352228)
1993

Variations for Myopathy, Centronuclear

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UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Centronuclear:

67 (show all 19)
id Symbol AA change Variation ID SNP ID
1DNM2p.Glu368LysVAR_031962
2DNM2p.Arg369GlnVAR_031963
3DNM2p.Arg369TrpVAR_031964
4DNM2p.Arg465TrpVAR_031965
5DNM2p.Ala618ThrVAR_039041
6DNM2p.Ser619LeuVAR_039042
7DNM2p.Ser619TrpVAR_039043
8DNM2p.Glu650LysVAR_062576
9DNM2p.Glu368GlnVAR_068365
10DNM2p.Arg522CysVAR_068366
11DNM2p.Arg522HisVAR_068367
12DNM2p.Arg523GlyVAR_068368
13DNM2p.Glu560LysVAR_068369
14DNM2p.Ala618AspVAR_068370
15DNM2p.Leu621ProVAR_068371
16DNM2p.Pro627HisVAR_068372
17DNM2p.Pro627ArgVAR_068373
18MTMR14p.Arg336GlnVAR_033370rs121434509
19MTMR14p.Tyr462CysVAR_033371rs121434510

Clinvar genetic disease variations for Myopathy, Centronuclear:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MYF6NM_002469.2(MYF6): c.334G> T (p.Ala112Ser)single nucleotide variantPathogenicrs28928909GRCh37Chr 12, 81101832: 81101832
2DNM2NM_001005360.2(DNM2): c.1106G> A (p.Arg369Gln)single nucleotide variantPathogenicrs121909089GRCh37Chr 19, 10904509: 10904509
3DNM2NM_001005360.2(DNM2): c.1105C> T (p.Arg369Trp)single nucleotide variantPathogenicrs121909090GRCh37Chr 19, 10904508: 10904508
4DNM2NM_001005360.2(DNM2): c.1393C> T (p.Arg465Trp)single nucleotide variantPathogenicrs121909091GRCh37Chr 19, 10909219: 10909219
5DNM2NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys)single nucleotide variantPathogenicrs121909092GRCh37Chr 19, 10904505: 10904505
6DNM2NM_001005360.2(DNM2): c.1856C> T (p.Ser619Leu)single nucleotide variantPathogenicrs121909095GRCh37Chr 19, 10934538: 10934538

Expression for genes affiliated with Myopathy, Centronuclear

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Search GEO for disease gene expression data for Myopathy, Centronuclear.

Pathways for genes affiliated with Myopathy, Centronuclear

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Pathways related to Myopathy, Centronuclear according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9MTMR14, MTMR3
2
Show member pathways
9.0MTM1, MTMR1, MTMR14, MTMR2, MTMR3
3
Inositol phosphate metabolism (KEGG)
Show member pathways
9.0MTM1, MTMR1, MTMR14, MTMR2, MTMR3
4
Show member pathways
9.0MTM1, MTMR1, MTMR14, MTMR2, MTMR3

GO Terms for genes affiliated with Myopathy, Centronuclear

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Cellular components related to Myopathy, Centronuclear according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1vacuolar membraneGO:000577410.7MTMR2, SBF2
2I bandGO:003167410.2BIN1, MTM1, RYR1, TTN
3Z discGO:00300189.4BIN1, DES, DMD, TTN
4sarcolemmaGO:00423839.4CCDC78, DES, DMD
5cytosolGO:00058297.6DES, DMD, DNM2, MTM1, MTMR1, MTMR14
6cytoplasmGO:00057376.8BIN1, CCDC78, CDKN3, DES, DNM2, MTM1

Biological processes related to Myopathy, Centronuclear according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1muscle cell differentiationGO:004269210.3BIN1, MYF6, SPEG
2phosphatidylinositol metabolic processGO:004648810.3MTMR2, PLEK
3muscle contractionGO:000693610.2DES, RYR1, TTN
4muscle cell cellular homeostasisGO:004671610.0DMD, MTM1
5muscle organ developmentGO:00075179.7DMD, MYF6, SPEG
6phosphatidylinositol dephosphorylationGO:00468569.7MTM1, MTMR1, MTMR2, MTMR3
7phosphatidylinositol biosynthetic processGO:00066619.5MTM1, MTMR1, MTMR14, MTMR2, MTMR3
8phospholipid metabolic processGO:00066449.4MTM1, MTMR1, MTMR14, MTMR2, MTMR3
9muscle filament slidingGO:00300499.4DES, DMD, TTN
10dephosphorylationGO:00163118.4CDKN3, MTM1, MTMR1, MTMR14, MTMR2, MTMR3
11peptidyl-tyrosine dephosphorylationGO:00353358.3CDKN3, MTM1, MTMR1, MTMR14, MTMR2, MTMR3
12protein dephosphorylationGO:00064708.2CDKN3, MTM1, MTMR1, MTMR14, MTMR2, MTMR3

Molecular functions related to Myopathy, Centronuclear according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1phosphatase regulator activityGO:001920810.5SBF1, SBF2
2nitric-oxide synthase bindingGO:005099810.1DMD, DNM2
3phosphatidylinositol-3,5-bisphosphate 3-phosphatase activityGO:00526299.8MTM1, MTMR1, MTMR2, MTMR3
4protein tyrosine/serine/threonine phosphatase activityGO:00081389.6CDKN3, MTMR2, SBF1
5phosphatidylinositol-3-phosphatase activityGO:00044389.5MTM1, MTMR1, MTMR14, MTMR2, MTMR3
6protein tyrosine phosphatase activityGO:00047258.3CDKN3, MTM1, MTMR1, MTMR14, MTMR2, MTMR3
7phosphatase activityGO:00167918.0CDKN3, MTM1, MTMR1, MTMR14, MTMR2, MTMR3

Sources for Myopathy, Centronuclear

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet