MCID: FCS012
MIFTS: 50

Facioscapulohumeral Muscular Dystrophy 1 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Facioscapulohumeral Muscular Dystrophy 1

About this section

Aliases & Descriptions for Facioscapulohumeral Muscular Dystrophy 1:

Name: Facioscapulohumeral Muscular Dystrophy 1 52 70 12
Facioscapulohumeral Muscular Dystrophy 35 11 23 48 24 25 54 70 13
Muscular Dystrophy, Facioscapulohumeral 48 25 27 39 68
Fshd 48 24 25 54 70
Landouzy-Dejerine Muscular Dystrophy 11 48 24 70
Fsh Muscular Dystrophy 23 24 25
Facioscapulohumeral Muscular Dystrophy 1a 48 68
Fshd1a 48 70
Facioscapulohumeral Type Progressive Muscular Dystrophy 25
Muscular Dystrophy, Facioscapulohumeral, Type 1a 48
Facioscapulohumeral Muscular Dystrophy Type 1a 70
Facioscapuloperoneal Muscular Dystrophy 25
Muscular Dystrophy Facioscapulohumeral 50
 
Muscular Dystrophy, Landouzy-Dejerine 11
Landouzy Dejerine Muscular Dystrophy 11
Facio-Scapulo-Humeral Dystrophy 25
Facioscapulohumeral Dystrophy 54
Facioscapulohumeral Myopathy 54
Facioscapulohumeral Atrophy 25
Frontometaphyseal Dysplasia 68
Landouzy-Dejerine Myopathy 54
Fsh Dystrophy 54
Fshmd1a 48
Fshd1 70
Fmd 70

Characteristics:

Orphanet epidemiological data:

54
facioscapulohumeral muscular dystrophy:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy

HPO:

64
facioscapulohumeral muscular dystrophy 1:
Inheritance: autosomal dominant inheritance
Onset and clinical course: slow progression, childhood onset

GeneReviews:

23
Penetrance: in one study, penetrance of fshd was found to vary by age and gender; it was 83% by age 30 years, but significantly greater for males (95%) than for females (69%) [zatz et al 1998]. this finding was confirmed by tonini et al [2004a]. the sex difference in penetrance is unexplained [zatz et al 1998]...


Classifications:



External Ids:

OMIM52 158900
Disease Ontology11 DOID:11727
ICD1030 G71.0
MeSH39 D020391
NCIt45 C84704
SNOMED-CT62 399091004, 56096001
Orphanet54 ORPHA269
UMLS via Orphanet69 C0238288
ICD10 via Orphanet31 G71.0

Summaries for Facioscapulohumeral Muscular Dystrophy 1

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OMIM:52 Facioscapulohumeral muscular dystrophy is the third most common hereditary disease of muscle after Duchenne (DMD;... (158900) more...

MalaCards based summary: Facioscapulohumeral Muscular Dystrophy 1, also known as facioscapulohumeral muscular dystrophy, is related to frontometaphyseal dysplasia and fascioscapulohumeral muscular dystrophy 2, digenic, and has symptoms including mask-like facies, skeletal muscle atrophy and hyperlordosis. An important gene associated with Facioscapulohumeral Muscular Dystrophy 1 is FSHMD1A (Facioscapulohumeral Muscular Dystrophy 1A). Affiliated tissues include skeletal muscle, tongue and testes.

UniProtKB/Swiss-Prot:70 Facioscapulohumeral muscular dystrophy 1: A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles.

Genetics Home Reference:25 Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the muscles that are affected most often: those of the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. However, the onset and severity of the condition varies widely. Milder cases may not become noticeable until later in life, whereas rare severe cases become apparent in infancy or early childhood.

NIH Rare Diseases:48 Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the areas of the body that are affected most often: muscles in the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. However, the onset and severity of the condition varies widely. Facioscapulohumeral muscular dystrophy results from a deletion of genetic material from a region of DNA known as D4Z4. This region is located near one end of chromosome 4. It is inherited in an autosomal dominant pattern. Last updated: 3/15/2013

Wikipedia:71 Facioscapulohumeral muscular dystrophy (FSHMD, FSHD or FSH)—originally named Landouzy-Dejerine—is a... more...

GeneReviews for NBK1443

Related Diseases for Facioscapulohumeral Muscular Dystrophy 1

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Diseases related to Facioscapulohumeral Muscular Dystrophy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1frontometaphyseal dysplasia32.6FLNA, FSHMD1A
2fascioscapulohumeral muscular dystrophy 2, digenic12.0
3muscular dystrophy11.2
4fibromuscular dysplasia11.1
5cardiac valvular dysplasia, x-linked10.7FLNA, FSHMD1A
6otopalatodigital syndrome, type ii10.7FLNA, FSHMD1A
7intestinal pseudoobstruction, neuronal10.7FLNA, FSHMD1A
8kallmann syndrome-heart disease syndrome10.7DMD, FLNA
9melnick-needles syndrome10.7FLNA, FSHMD1A
10hemolytic anemia due to g6pd deficiency10.7FLNA, FSHMD1A
11terminal osseous dysplasia10.6FLNA, FSHMD1A
12heterotopia, periventricular, ed variant10.6FLNA, FSHMD1A
13fg syndrome 210.6FLNA, FSHMD1A
14classic variant of chromophobe renal cell carcinoma10.5DMD, DUX4, DUX4L5
15favism10.5FLNA, FSHMD1A
16muscular dystrophy, rigid spine, 110.5DMD, GAA
17perrault syndrome 510.4PDLIM3, SLC25A4
18baraitser-winter syndrome 210.4DMD, GAA
19retinitis10.4
20cubitus valgus with mental retardation and unusual facies10.3DMD, GAA
21myasthenia gravis10.2
22myopathy10.2
23myopathy, distal, 410.2DMD, FLNA
24coats disease10.1
25telangiectasis10.1
26vascular disease10.1
27epilepsy10.1
28retinal vascular disease10.1
29limb-girdle muscular dystrophy10.1
30right bundle branch block10.0
31neuropathy10.0
32breast cancer9.9
33becker muscular dystrophy9.9
34macroglossia9.9
35birdshot chorioretinopathy9.9
36charcot-marie-tooth disease9.9
37sleep apnea9.9
38obstructive sleep apnea9.9
39congenital myopathy9.9
40tooth disease9.9
41lateral sclerosis9.9
42embryonal rhabdomyosarcoma9.9
43rhabdomyosarcoma9.9
44plexopathy9.9
45neuromuscular disease9.9
46sleep disorder9.9
47myositis9.9
48muscular atrophy9.9
4918p deletion syndrome9.9
50myotonic dystrophy9.9

Graphical network of the top 20 diseases related to Facioscapulohumeral Muscular Dystrophy 1:



Diseases related to facioscapulohumeral muscular dystrophy 1

Symptoms & Phenotypes for Facioscapulohumeral Muscular Dystrophy 1

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Symptoms by clinical synopsis from OMIM:

158900

Clinical features from OMIM:

158900

Human phenotypes related to Facioscapulohumeral Muscular Dystrophy 1:

 64 54 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mask-like facies64 54 hallmark (90%) Very frequent (99-80%) HP:0000298
2 skeletal muscle atrophy64 54 hallmark (90%) Very frequent (99-80%) HP:0003202
3 hyperlordosis64 54 hallmark (90%) Very frequent (99-80%) HP:0003307
4 emg abnormality64 54 hallmark (90%) Very frequent (99-80%) HP:0003457
5 sensorineural hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000407
6 abnormality of the eyelashes64 54 typical (50%) Frequent (79-30%) HP:0000499
7 palpebral edema64 54 typical (50%) Frequent (79-30%) HP:0100540
8 abnormality of the retinal vasculature64 54 occasional (7.5%) Frequent (79-30%) HP:0008046
9 external ophthalmoplegia64 HP:0000544
10 intellectual disability64 HP:0001249
11 seizures64 HP:0001250
12 dysphagia64 HP:0002015
13 restrictive deficit on pulmonary function testing64 HP:0002111
14 elevated serum creatine phosphokinase64 54 Very frequent (99-80%) HP:0003236
15 shoulder girdle muscle weakness64 HP:0003547
16 scapular winging64 HP:0003691
17 shoulder girdle muscle atrophy64 HP:0003724
18 retinal telangiectasia64 HP:0007763
19 scapulohumeral muscular dystrophy64 HP:0008970
20 calf muscle hypertrophy64 HP:0008981
21 abdominal wall muscle weakness64 HP:0009023
22 facial palsy64 HP:0010628
23 exudative retinal detachment64 HP:0012231
24 tongue atrophy64 HP:0012473
25 malformation of the heart and great vessels54 Occasional (29-5%)

Drugs & Therapeutics for Facioscapulohumeral Muscular Dystrophy 1

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Drugs for Facioscapulohumeral Muscular Dystrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Prednisoneapproved, vet_approvedPhase 3135953-03-25865
Synonyms:
(1S,2R,10S,11S,14R,15S)-14-hydroxy-14-(2-hydroxyacetyl)-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-3,6-diene-5,17-dione
(8S,9S,10R,13S,14S,17R)-17-hydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,9,12,14,15,16-octahydrocyclopenta[a]phenanthrene-3,11-dione
(8xi,9xi,14xi)-17,21-dihydroxypregna-1,4-diene-3,11,20-trione
.delta. E
.delta.(sup1)-Cortisone
.delta.-Cortelan
.delta.-Cortisone
.delta.-Cortone
.delta.-E
.delta.1-Cortisone
.delta.1-Dehydrocortisone
.delta.sone
1,2-Dehydrocortisone
1,4-Pregnadiene-17-alpha,21-diol-3,11,20-trione
1,4-Pregnadiene-17.alpha.,21-diol-3,11,20-trione
1,4-Pregnadiene-17alpha,21-diol-3,11,20-trione
1-Cortisone
1-Dehydrocortisone
17,21-Dihydroxypregna-1,4-diene-3,11,20-trione
17alpha,21-Dihydroxy-1,4-pregnadiene-3,11,20-trione
53-03-2
68-59-7
81552_FLUKA
AC-11112
AC1L1LB2
AC1Q29EZ
ACon0_000082
ACon1_000297
AI3-52939
Adasone
Ancortone
Apo-Prednisone
Apo-prednisone
BPBio1_000323
BRD-K85883481-001-04-2
BSPBio_000293
Betapar
Bicortone
Bio-0649
C07370
C21H26O5
CCRIS 2646
CHEBI:8382
CHEMBL635
CID5865
CPD001227202
Cartancyl
Colisone
Cortan
Cortancyl
Cortidelt
Cotone
DB00635
Dacorten
Dacortin
Decortancyl
Decortin
Decortisyl
Dehydrocortisone
Dekortin
Delcortin
Dellacort
Dellacort A
Delta Cortelan
Delta E
Delta E.
Delta-Cortelan
Delta-Dome
Delta-cortelan
Delta-cortisone
Delta-cortone
Delta-dome
Deltacortene
Deltacortisone
Deltacortone
Deltasone
Deltasone, Liquid Pred, Orasone, Adasone, Deltacortisone,Prednisone
Deltison
Deltisona
Deltisone
Deltra
Di-Adreson
Diadreson
EINECS 200-160-3
Econosone
Encorton
Encortone
Enkortolon
Enkorton
Fernisone
Fiasone
HMS1568O15
HMS2090J13
HSDB 3168
Hostacortin
In-Sone
Incocortyl
 
Juvason
Kortancyl
LMST02030180
LS-1325
Liquid Pred
Lisacort
Lodotra
MEGxm0_000443
MLS001061265
MLS001304073
MLS001335907
MLS001335908
MLS002154191
MLS002207083
Me-Korti
Metacortandracin
Meticorten
Meticorten (Veterinary)
Metrevet (Veterinary)
MolPort-001-740-041
NCGC00090766-01
NCGC00090766-02
NCGC00090766-03
NCI-C04897
NCI60_000008
NSC 10023
NSC10023
Nisona
Nizon
Novoprednisone
Nurison
Orasone
Origen Prednisone
P1276
P6254_SIGMA
PRD
Panafcort
Panasol
Paracort
Parmenison
Pehacort
Precort
Predeltin
Prednicen-M
Prednicorm
Prednicort
Prednicot
Prednidib
Prednilonga
Prednison
Prednisona
Prednisona [INN-Spanish]
Prednisone
Prednisone Intensol
Prednisone [INN:BAN]
Prednisonum
Prednisonum [INN-Latin]
Prednitone
Prednizon
Prednovister
Presone
Prestwick0_000077
Prestwick1_000077
Prestwick2_000077
Prestwick3_000077
Prestwick_405
Pronison
Pronisone
Rectodelt
Retrocortine
S1622_Selleck
SAM002264641
SK-Prednisone
SMR000718760
SMR001227202
SPBio_002214
Servisone
Sone
Sterapred
Supercortil
U 6020
UNII-VB0R961HZT
Ultracorten
Ultracortene
WLN: L E5 B666 CV OV AHTTT&J A1 E1 FV1Q FQ
Winpred
Wojtab
ZINC03875357
Zenadrid
Zenadrid (veterinary)
Zenadrid [veterinary]
delta cortelan
delta(sup 1)-Cortisone
delta(sup 1)-Dehydrocortisone
delta-1-Cortisone
delta-1-Dehydrocortisone
delta-Cortisone
delta-Cortone
2Anti-Inflammatory AgentsPhase 310355
3HormonesPhase 313979
4Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 312767
5Hormone AntagonistsPhase 312778
6Antineoplastic Agents, HormonalPhase 35407
7glucocorticoidsPhase 34920
8
Creatineapproved, nutraceuticalPhase 212657-00-1586
Synonyms:
((amino(Imino)methyl)(methyl)amino)acetic acid
((amino(imino)methyl)(methyl)amino)acetate
((amino(imino)methyl)(methyl)amino)acetic acid
(N-methylcarbamimidamido)acetic acid
(alpha-Methylguanido)acetate
(alpha-Methylguanido)acetic acid
(α-methylguanido)acetic acid
Cosmocair C 100
Creatin
Creatine
Creatine hydrate
Kreatin
 
Krebiozon
Methylglycocyamine
Methylguanidoacetate
Methylguanidoacetic acid
N-(Aminoiminomethyl)-N-Methyl-Glycine
N-(aminoiminomethyl)-N-methylglycine
N-Amidinosarcosine
N-Carbamimidoyl-N-methylglycine
N-Methyl-N-guanylglycine
N-[(e)-AMINO(imino)methyl]-N-methylglycine
Phosphagen
[[Amino(imino)methyl](methyl)amino]acetate
[[Amino(imino)methyl](methyl)amino]acetic acid
alpha-Methylguanidino acetic acid
9Pharmaceutical SolutionsPhase 27793
10
Oxandroloneapproved, investigational1553-39-45878
Synonyms:
(1S,3aS,3bR,5aS,9aS,9bS,11aS)-1-hydroxy-1,9a,11a-trimethyl-2,3,3a,3b,4,5,5a,6,9,9b,10,11-dodecahydroindeno[4,5-h]isochromen-7-one
(4aS,4bS,6aS,7S,9aS,9bR,11aS)-7-hydroxy-4a,6a,7-trimethyltetradecahydroindeno[4,5-h]isochromen-2(1H)-one
17-beta-hydroxy-17-methyl-2-oxa-androstan-3-one
17-beta-hydroxy-17-methyl-2-oxa-androstan-3-one (9CI)
17beta-Hydroxy-17-methyl-2-oxa-5alpha-androstan-3-one
17beta-Hydroxy-17alpha-methyl-2-oxa-5alpha-androstan-3-one
2-Oxa-5alpha-androstan-3-one, 17beta-hydroxy-17-methyl- (8CI)
2-Oxaandrostan-3-one, 17-hydroxy-17-methyl-, (5-alpha,17-beta)- (9CI)
53-39-4
8075 C. B
8075 C. B.
8075 C.B
8075 C.B.
8075 CB
AC-14975
AC1L1LBY
Ambap53-39-4
Anavar
C07346
C19H30O3
CHEBI:7820
CHEMBL1200436
CID5878
D00462
DB00621
Dodecahydro-3-hydroxy-6-(hydroxy-methyl)-3,3a,6-trimethyl-1H-benz(e)indene-7-acetic acid delta-lactone
EINECS 200-172-9
 
HSDB 3373
LS-98540
Lonavar
MolPort-003-986-935
NSC 67068
OXANDROLONE
Ossandrolone
Ossandrolone [DCIT]
Oxandrin
Oxandrin (TN)
Oxandrin, Anavar, Oxandrolone
Oxandrolon
Oxandrolona
Oxandrolona [INN-Spanish]
Oxandrolone
Oxandrolone (JAN/USP/INN)
Oxandrolone [USAN:INN:BAN:JAN]
Oxandrolonum
Oxandrolonum [INN-Latin]
Protivar
Provitar
S1753_Selleck
SC 11585
SC-11585
TL8003512
UNII-7H6TM3CT4L
Vasorome
ZINC03813047
11
Mentholapproved23532216-51-516666
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
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
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
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
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
12
Vitamin Eapproved, nutraceutical, vet_approved40659-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-TRIMETHYLTRIDECYL]CHROMAN-6-OL
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'R)-α-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
5,7,8-trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
13
Vitamin Capproved, nutraceutical51450-81-75785, 54670067
Synonyms:
(+)-Sodium L-ascorbate
(+)-ascorbate
(+)-ascorbic acid
(2R)-2-[(1S)-1,2-Dihydroxyethyl]-4,5-dihydroxy-furan-3-one
(2R)-2-[(1S)-1,2-dihydroxyethyl]-4,5-dihydroxyfuran-3-one
(5R)-5-[(1S)-1,2-dihydroxyethyl]-3,4-dihydroxyfuran-2(5H)-one
129940-97-2
134-03-2 (monosodium salt)
14536-17-5
154170-90-8
2-(1,2-Dihydroxyethyl)-4,5-dihydroxyfuran-3-one
255564_SIAL
259133-78-3
3-Keto-L-gulofuranolactone
3-Oxo-L-gulofuranolactone
3-Oxo-L-gulofuranolactone (enol form)
30208-61-8
33034_RIEDEL
33034_SIAL
47863_SUPELCO
47A605F0-4187-47A8-B0CE-F9E7DA1B0076
50-81-7
50976-75-5
56172-55-5
56533-05-2
57304-74-2
57606-40-3
623158-95-2
6730-29-6
882690-91-7
884381-69-5
885512-24-3
88845-26-5
89924-69-6
95209_FLUKA
95209_SIGMA
95210_FLUKA
95210_SIAL
95212_FLUKA
A0278_SIGMA
A0537
A2174_SIGMA
A2218_SIGMA
A2343_SIGMA
A4403_SIGMA
A4544_SIGMA
A5960_SIGMA
A7506_SIGMA
A92902_ALDRICH
A92902_SIAL
AA
AB00376923
AB1002440
AC1L1L4T
AC1Q77S6
AR-1J3435
Acid Ascorbic
Acide ascorbique
Acide ascorbique [INN-French]
Acido ascorbico
Acido ascorbico [INN-Spanish]
Acidum ascorbicum
Acidum ascorbicum [INN-Latin]
Acidum ascorbinicum
Adenex
Allercorb
Ambap36431-82-0
Antiscorbic Vitamin
Antiscorbic vitamin
Antiscorbutic Vitamin
Antiscorbutic factor
Antiscorbutic vitamin
Arco-Cee
Arco-cee
Ascoltin
Ascoltin (TN)
Ascor-B.I.D.
Ascorb
Ascorbajen
Ascorbate
Ascorbic Acid
Ascorbic Acid, Monosodium Salt
Ascorbic acid
Ascorbic acid (JP15/USP/INN)
Ascorbic acid [BAN:INN:JAN]
Ascorbic acid [INN:BAN:JAN]
Ascorbicab
Ascorbicap
Ascorbicap (TN)
Ascorbicin
Ascorbin
Ascorbinsaeure
Ascorbinsäure
Ascorbutina
Ascorbyl radical
Ascorin
Ascorteal
Ascorvit
BPBio1_000363
BSPBio_000329
C-Level
C-Long
C-Quin
C-Span
C-Vimin
C00072
C6H8O6
CCRIS 57
CE-VI-Sol
CHEBI:29073
CHEMBL196
CID5785
Cantan
Cantaxin
Caswell No. 061B
Catavin C
Ce Lent
Ce lent
Ce-Mi-Lin
Ce-mi-lin
Ce-vi-sol
Cebicure
Cebid
Cebion
Cebione
Cecon
Cee-Caps TD
Cee-Caps Td
Cee-Vite
Cee-caps TD
Cee-vite
Cegiolan
Ceglion
Ceklin
Celaskon
Celin
Cell C
Cemagyl
Cemill
Cenetone
Cenolate
Cereon
Cergona
Cescorbat
Cetamid
Cetane
Cetane-Caps TC
Cetane-Caps TD
Cetane-Caps Tc
Cetane-Caps Td
Cetane-caps TC
Cetane-caps TD
Cetebe
 
Cetemican
Cevalin
Cevatine
Cevex
Cevi-Bid
Cevi-bid
Cevimin
Cevital
Cevitamate
Cevitamic Acid
Cevitamic acid
Cevitamin
Cevitan
Cevitex
Cewin
Chewcee
Ciamin
Cipca
Citriscorb
Citrovit
Colascor
Concemin
Cortalex
D00018
DB00126
Davitamon C
Dora-C-500
Duoscorb
EINECS 200-066-2
FEMA No. 2109
Ferancee
Ferrous ascorbate
HSDB 818
HiCee
Hicee
Hybrin
IDO-C
Ido-C
Iron(II) ascorbate
Iron-ascorbic acid complexes
Juvamine
Kangbingfeng
Kyselina Askorbova
Kyselina askorbova
Kyselina askorbova [Czech]
L(+)-Ascorbate
L(+)-Ascorbic acid
L-(+)-Ascorbate
L-(+)-Ascorbic Acid
L-(+)-Ascorbic acid
L-(+)-ascorbic acid
L-3-Ketothreohexuronic acid lactone
L-3-ketothreohexuronic acid
L-Ascorbate
L-Ascorbic Acid
L-Ascorbic acid
L-Ascorbic acid, free radical form
L-Lyxoascorbate
L-Lyxoascorbic Acid
L-Lyxoascorbic acid
L-Threo-ascorbic acid
L-Threoascorbic acid
L-Xyloascorbate
L-Xyloascorbic Acid
L-Xyloascorbic acid
L-ascorbate
L-threo-Hex-2-enonic acid, gamma-lactone
L-threo-ascorbic acid
L-threo-hex-2-enono-1,4-lactone
LS-145
Laroscorbine
Lemascorb
Liqui-Cee
Liqui-cee
MLS002153776
Magnesium Ascorbicum
Magnorbin
Meri-C
Meri-c
MolPort-001-792-501
Monodehydroascorbic acid
NCGC00091517-01
NCGC00091517-02
NCGC00164357-01
NCI-C54808
NSC 33832
Natrascorb
Natrascorb injectable
Oral Vitamin C
Planavit C
Prestwick3_000325
Proscorbin
Redoxon
Ribena
Ronotec 100
Rontex 100
Roscorbic
Rovimix C
SMR001233160
Scorbacid
Scorbu C
Scorbu-C
Secorbate
Semidehydroascorbate
Sodascorbate
Sodium Ascorbate (Ascorbic Acid)
Stuartinic
Suncoat VC 40
Sunkist
Testascorbic
Tolfrinic
UNII-PQ6CK8PD0R
VASC
Vicelat
Vicin
Vicomin C
Viforcit
Viscorin
Viscorin 100M
Vitace
Vitacee
Vitacimin
Vitacin
Vitamin C
Vitamin- C
Vitamin-?C
Vitamisin
Vitascorbol
W210901_ALDRICH
Xitix
acide ascorbique
acidum ascorbicum
acidum ascorbinicum
antiscorbic vita min
ascor-b.i.d
ascorbate
ascorbic acid
bmse000182
cee-caps td
cevibid
component of Cortalex
component of E and C-Level
component of Endoglobin Forte
component of Ferancee
gamma-Lactone L-threo-Hex-2-enonate
gamma-Lactone L-threo-Hex-2-enonic acid
l-ascorbic acid
l-threo-hex-1-eofuranos-3-ulose
nchembio.174-comp5
nchembio.89-comp1
nchembio.92-comp2
nchembio821-comp9
roscorbi c
vitamin C
ácido ascórbico
14
Selenium1757782-49-2
Synonyms:
Selanediide
Selenide
 
Selenide(2-)
Selenium
Selenium ion (Se2+)
15Protective Agents7190
16Micronutrients5802
17Trace Elements5802
18Vitamins5095
19Tocopherols406
20Antioxidants2928
21Tocotrienols402
22Peripheral Nervous System Agents22776
23Neurotransmitter Agents17734
24Respiratory System Agents4818
25Androgens1275
26Bronchodilator Agents2856
27Anabolic Agents499
28Tocolytic Agents708
29Adrenergic beta-Agonists1640
30Adrenergic Agonists2877
31Adrenergic Agents5140
32Autonomic Agents9774
33Adrenergic beta-2 Receptor Agonists925
34Anti-Asthmatic Agents3369
35Albuterol408
36TocopherolNutraceutical406
37TocotrienolNutraceutical402
38Whey ProteinNutraceutical208

Interventional clinical trials:

(show all 35)
idNameStatusNCT IDPhase
1Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular DystrophyCompletedNCT00004646Phase 3
2The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular DystrophiesCompletedNCT02579239Phase 1, Phase 2
3Study Evaluating MYO-029 in Adult Muscular DystrophyCompletedNCT00104078Phase 1, Phase 2
4Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD)RecruitingNCT02927080Phase 2
5Evaluate Safety and Biological Activity of ATYR1940 in Patients With Early Onset Facioscapulohumeral Muscular DystrophyActive, not recruitingNCT02603562Phase 1, Phase 2
6Safety, Tolerability, Pharmacokinetics, and Biological Activity of ATYR1940 in Adult Patients With Muscular DystrophyActive, not recruitingNCT02239224Phase 1, Phase 2
7Study to Evaluate the Long-Term Safety, Tolerability, and Biological Activity of ATYR1940 in Patients With Limb Girdle and Facioscapulohumeral Muscular DystrophyEnrolling by invitationNCT02836418Phase 1, Phase 2
8Safety, Tolerability, PK, and Activity of ATYR1940 in Patients With Muscular Dystrophy - Study ExtensionEnrolling by invitationNCT02531217Phase 1, Phase 2
9Effect of Creatine Monohydrate on Functional Muscle Strength in Children With FSHDNot yet recruitingNCT02948244Phase 2
10Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD)RecruitingNCT02208713Phase 1
11Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular DystrophyUnknown statusNCT01671865
12Effects Antioxidants Supplementation on Muscular Function Patients Facioscapulohumeral Dystrophy (FSHD)Unknown statusNCT01596803
13Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2Unknown statusNCT01970735
14Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2Unknown statusNCT02032979
15Molecular Analysis of Patients With Neuromuscular DiseaseUnknown statusNCT00390104
161 Year MRI Followup in Facioscapulohumeral Muscular DystrophyCompletedNCT02159612
17High Intensity Training in Patients With Facioscapulohumeral Muscular DystrophyCompletedNCT02159963
18Electrostimulation of Shoulder Girdle and Quadriceps Muscles in Facioscapulohumeral Muscular Dystrophy PatientsCompletedNCT00821548
19Randomized Study of Albuterol in Patients With Facioscapulohumeral Muscular DystrophyCompletedNCT00004685
20Protein Supplementation and Exercise in Patients With FSH Muscular Dystrophy- a Randomized Placebo Controlled StudyCompletedNCT01618331
21Physical Training Introduction in Lifestyle of Facioscapulohumeral Dystrophy PatientsCompletedNCT01116570
22Prospective Study for 24-months of Physical Training Introduced in Lifestyle of Patients With FSHD : Tolerance, Sustainability and Efficiency of Unsupervised Training Program.CompletedNCT01689480
23Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic DystrophyCompletedNCT00004769
24Study of Morphology and Functional Magnetic Resonance Imaging (MRI) Muscle Patients With Muscular Dystrophy Type FSHD Benefiting a Physical Training Introduced.CompletedNCT01990976
25Study of Albuterol and Oxandrolone in Patients With Facioscapulohumeral Dystrophy (FSHD)CompletedNCT00027391
26Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy RegistryRecruitingNCT00082108
27Muscle Inflammation and Fat Infiltration in Patients Affected by FSHDRecruitingNCT02541292
28Facioscapulohumeral Dystrophy in ChildrenRecruitingNCT02625662
29Effects of NMES on Muscle Function of Patients With FSHD: a Double-blind Randomized Controled Clinical TrialRecruitingNCT02861911
30Acceptance and Commitment Therapy for Muscle DiseaseRecruitingNCT02810028
31Muscle Oxygenation in Effort in Neuromuscular DiseasesRecruitingNCT02789059
32Routine Health Care of Patients With FSHDRecruitingNCT02622438
33Bone Health in Facioscapulohumeral Muscular DystrophyActive, not recruitingNCT02413190
34A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset FSHDActive, not recruitingNCT01437345
35Rasch-analysis of Clinical Severity in FSHDActive, not recruitingNCT02766985

Search NIH Clinical Center for Facioscapulohumeral Muscular Dystrophy 1


Cochrane evidence based reviews: muscular dystrophy, facioscapulohumeral

Genetic Tests for Facioscapulohumeral Muscular Dystrophy 1

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Genetic tests related to Facioscapulohumeral Muscular Dystrophy 1:

id Genetic test Affiliating Genes
1 Facioscapulohumeral Muscular Dystrophy27 24 DUX4

Anatomical Context for Facioscapulohumeral Muscular Dystrophy 1

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MalaCards organs/tissues related to Facioscapulohumeral Muscular Dystrophy 1:

36
Skeletal muscle, Tongue, Testes, Bone, Heart

Publications for Facioscapulohumeral Muscular Dystrophy 1

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Variations for Facioscapulohumeral Muscular Dystrophy 1

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Clinvar genetic disease variations for Facioscapulohumeral Muscular Dystrophy 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FLNANM_001110556.1(FLNA): c.3476A> C (p.Asp1159Ala)SNVPathogenicrs28935471GRCh37Chr X, 153588687: 153588687
2FLNANM_001110556.1(FLNA): c.3557C> T (p.Ser1186Leu)SNVPathogenicrs137853312GRCh37Chr X, 153588606: 153588606

Copy number variations for Facioscapulohumeral Muscular Dystrophy 1 from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11848374182600000191273063DeletionFacioscapulohumeral muscular dystrophy

Expression for genes affiliated with Facioscapulohumeral Muscular Dystrophy 1

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Search GEO for disease gene expression data for Facioscapulohumeral Muscular Dystrophy 1.

Pathways for genes affiliated with Facioscapulohumeral Muscular Dystrophy 1

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GO Terms for genes affiliated with Facioscapulohumeral Muscular Dystrophy 1

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Cellular components related to Facioscapulohumeral Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Z discGO:003001810.0DMD, FRG1, PDLIM3

Biological processes related to Facioscapulohumeral Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1muscle cell cellular homeostasisGO:004671610.1DMD, GAA

Sources for Facioscapulohumeral Muscular Dystrophy 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet