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 50 68 12
Facioscapulohumeral Muscular Dystrophy 33 11 22 46 23 24 13 52 68
Muscular Dystrophy, Facioscapulohumeral 46 24 25 37 66
Fshd 46 23 24 52 68
Landouzy-Dejerine Muscular Dystrophy 11 46 23 68
Fsh Muscular Dystrophy 22 23 24
Facioscapulohumeral Muscular Dystrophy 1a 46 66
Fshd1a 46 68
Facioscapulohumeral Type Progressive Muscular Dystrophy 24
Muscular Dystrophy, Facioscapulohumeral, Type 1a 46
Facioscapulohumeral Muscular Dystrophy Type 1a 68
Facioscapuloperoneal Muscular Dystrophy 24
 
Muscular Dystrophy Facioscapulohumeral 48
Muscular Dystrophy, Landouzy-Dejerine 11
Landouzy Dejerine Muscular Dystrophy 11
Facio-Scapulo-Humeral Dystrophy 24
Facioscapulohumeral Dystrophy 52
Facioscapulohumeral Myopathy 52
Facioscapulohumeral Atrophy 24
Landouzy-Dejerine Myopathy 52
Fsh Dystrophy 52
Fshmd1a 46
Fshd1 68
Fmd 68

Characteristics:

Orphanet epidemiological data:

52
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:

62
facioscapulohumeral muscular dystrophy 1:
Inheritance: autosomal dominant inheritance
Onset and clinical course: slow progression, childhood onset


Classifications:



External Ids:

OMIM50 158900
Disease Ontology11 DOID:11727
ICD1028 G71.0
MeSH37 D020391
NCIt43 C84704
SNOMED-CT60 399091004, 56096001
Orphanet52 ORPHA269
ICD10 via Orphanet29 G71.0
UMLS via Orphanet67 C0238288

Summaries for Facioscapulohumeral Muscular Dystrophy 1

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OMIM:50 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 fascioscapulohumeral muscular dystrophy 2, digenic and muscular dystrophy, 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 myeloid.

Genetics Home Reference:24 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:46 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

UniProtKB/Swiss-Prot:68 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.

GeneReviews summary 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 all 50)
idRelated DiseaseScoreTop Affiliating Genes
1fascioscapulohumeral muscular dystrophy 2, digenic11.9
2muscular dystrophy11.3
3frontometaphyseal dysplasia11.2
4fibromuscular dysplasia11.2
5otopalatodigital syndrome, type i10.8
6otopalatodigital syndrome, type ii10.8
7intestinal pseudoobstruction, neuronal10.8
8melnick-needles syndrome10.8
9heterotopia, periventricular, ed variant10.8
10cardiac valvular dysplasia, x-linked10.8
11perrault syndrome 510.5PDLIM3, SLC25A4
12retinitis10.5
13myasthenia gravis10.3
14myopathy10.3
15coats disease10.2
16limb-girdle muscular dystrophy10.2
17telangiectasis10.2
18vascular disease10.2
19epilepsy10.2
20retinal vascular disease10.2
21right bundle branch block10.2
22neuropathy10.2
23classic variant of chromophobe renal cell carcinoma10.0DMD, DUX4, DUX4L5
24breast cancer10.0
25becker muscular dystrophy10.0
26macroglossia10.0
27birdshot chorioretinopathy10.0
28charcot-marie-tooth disease10.0
29familial adenomatous polyposis10.0
30sleep apnea10.0
31obstructive sleep apnea10.0
32congenital myopathy10.0
33tooth disease10.0
34hypertrophic cardiomyopathy10.0
35lateral sclerosis10.0
36embryonal rhabdomyosarcoma10.0
37rhabdomyosarcoma10.0
38plexopathy10.0
39neuromuscular disease10.0
40sleep disorder10.0
41myositis10.0
42muscular atrophy10.0
4318p deletion syndrome10.0
44myotonic dystrophy10.0
45cardiomyopathy10.0
46charcot-marie-tooth neuropathy10.0
47chronic pain10.0
48dysphagia10.0
49encephalopathy10.0
50fletcher factor deficiency6.5DBET, DMD, DUX4, DUX4L1, DUX4L5, DUXA

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



Diseases related to facioscapulohumeral muscular dystrophy 1

Symptoms for Facioscapulohumeral Muscular Dystrophy 1

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Symptoms by clinical synopsis from OMIM:

158900

Clinical features from OMIM:

158900

Symptoms:

 52 (show all 10)
  • mask-like facies
  • sensorineural hearing impairment
  • abnormality of the eyelashes
  • malformation of the heart and great vessels
  • skeletal muscle atrophy
  • elevated serum creatine phosphokinase
  • hyperlordosis
  • emg abnormality
  • abnormality of the retinal vasculature
  • palpebral edema

HPO human phenotypes related to Facioscapulohumeral Muscular Dystrophy 1:

(show all 25)
id Description Frequency HPO Source Accession
1 mask-like facies hallmark (90%) HP:0000298
2 skeletal muscle atrophy hallmark (90%) HP:0003202
3 hyperlordosis hallmark (90%) HP:0003307
4 emg abnormality hallmark (90%) HP:0003457
5 sensorineural hearing impairment typical (50%) HP:0000407
6 abnormality of the eyelashes typical (50%) HP:0000499
7 palpebral edema typical (50%) HP:0100540
8 abnormality of the retinal vasculature occasional (7.5%) HP:0008046
9 sensorineural hearing impairment HP:0000407
10 external ophthalmoplegia HP:0000544
11 intellectual disability HP:0001249
12 seizures HP:0001250
13 dysphagia HP:0002015
14 restrictive deficit on pulmonary function testing HP:0002111
15 elevated serum creatine phosphokinase HP:0003236
16 shoulder girdle muscle weakness HP:0003547
17 scapular winging HP:0003691
18 shoulder girdle muscle atrophy HP:0003724
19 retinal telangiectasia HP:0007763
20 scapulohumeral muscular dystrophy HP:0008970
21 calf muscle hypertrophy HP:0008981
22 abdominal wall muscle weakness HP:0009023
23 facial palsy HP:0010628
24 exudative retinal detachment HP:0012231
25 tongue atrophy HP:0012473

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 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1glucocorticoidsPhase 34756
2
PrednisonePhase 3131853-03-25865
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
3
Oxandrolone1553-39-45878
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
4
Menthol21842216-51-516666
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
5
selenium1717782-49-2
Synonyms:
Selanediide
Selenide
 
Selenide(2-)
Selenium
Selenium ion (Se2+)
6
vitamin eNutraceutical39259-02-914985
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
7
Vitamin CNutraceutical48850-81-75785, 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
8TocotrienolNutraceutical391
9TocopherolNutraceutical395

Interventional clinical trials:

(show all 34)
idNameStatusNCT IDPhase
1Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular DystrophyCompletedNCT00004646Phase 3
2Study Evaluating MYO-029 in Adult Muscular DystrophyCompletedNCT00104078Phase 1, Phase 2
3The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular DystrophiesActive, not recruitingNCT02579239Phase 1, Phase 2
4Evaluate Safety and Biological Activity of ATYR1940 in Patients With Early Onset Facioscapulohumeral Muscular DystrophyActive, not recruitingNCT02603562Phase 1, Phase 2
5Safety, Tolerability, Pharmacokinetics, and Biological Activity of ATYR1940 in Adult Patients With Muscular DystrophyActive, not recruitingNCT02239224Phase 1, Phase 2
6Study 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
7Safety, Tolerability, PK, and Activity of ATYR1940 in Patients With Muscular Dystrophy - Study ExtensionEnrolling by invitationNCT02531217Phase 1, Phase 2
8Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD)Not yet recruitingNCT02927080Phase 2
9Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD)RecruitingNCT02208713Phase 1
101 Year MRI Followup in Facioscapulohumeral Muscular DystrophyCompletedNCT02159612
11Electrostimulation of Shoulder Girdle and Quadriceps Muscles in Facioscapulohumeral Muscular Dystrophy PatientsCompletedNCT00821548
12High Intensity Training in Patients With Facioscapulohumeral Muscular DystrophyCompletedNCT02159963
13Physical Training Introduction in Lifestyle of Facioscapulohumeral Dystrophy PatientsCompletedNCT01116570
14Randomized Study of Albuterol in Patients With Facioscapulohumeral Muscular DystrophyCompletedNCT00004685
15Protein Supplementation and Exercise in Patients With FSH Muscular Dystrophy- a Randomized Placebo Controlled StudyCompletedNCT01618331
16Prospective Study for 24-months of Physical Training Introduced in Lifestyle of Patients With FSHD : Tolerance, Sustainability and Efficiency of Unsupervised Training Program.CompletedNCT01689480
17Study of Albuterol and Oxandrolone in Patients With Facioscapulohumeral Dystrophy (FSHD)CompletedNCT00027391
18Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic DystrophyCompletedNCT00004769
19Study of Morphology and Functional Magnetic Resonance Imaging (MRI) Muscle Patients With Muscular Dystrophy Type FSHD Benefiting a Physical Training Introduced.CompletedNCT01990976
20Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular DystrophyRecruitingNCT01671865
21Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy RegistryRecruitingNCT00082108
22Facioscapulohumeral Dystrophy in ChildrenRecruitingNCT02625662
23Effects Antioxidants Supplementation on Muscular Function Patients Facioscapulohumeral Dystrophy (FSHD)RecruitingNCT01596803
24Muscle Inflammation and Fat Infiltration in Patients Affected by FSHDRecruitingNCT02541292
25Rasch-analysis of Clinical Severity in FSHDRecruitingNCT02766985
26Effects of NMES on Muscle Function of Patients With FSHD: a Double-blind Randomized Controled Clinical TrialRecruitingNCT02861911
27Molecular Analysis of Patients With Neuromuscular DiseaseRecruitingNCT00390104
28Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2RecruitingNCT01970735
29Acceptance and Commitment Therapy for Muscle DiseaseRecruitingNCT02810028
30Routine Health Care of Patients With FSHDRecruitingNCT02622438
31Muscle Oxygenation in Effort in Neuromuscular DiseasesRecruitingNCT02789059
32Bone Health in Facioscapulohumeral Muscular DystrophyActive, not recruitingNCT02413190
33A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset Facioscapulohumeral Muscular DystrophyActive, not recruitingNCT01437345
34Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2Not yet recruitingNCT02032979

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 Dystrophy25 23 DUX4

Anatomical Context for Facioscapulohumeral Muscular Dystrophy 1

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MalaCards organs/tissues related to Facioscapulohumeral Muscular Dystrophy 1:

34
Skeletal muscle, Tongue, Myeloid, Testes, Bone, Heart

Animal Models for Facioscapulohumeral Muscular Dystrophy 1 or affiliated genes

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Publications for Facioscapulohumeral Muscular Dystrophy 1

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Variations for Facioscapulohumeral Muscular Dystrophy 1

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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:00300189.8DMD, FRG1, PDLIM3, SORBS2

Molecular functions related to Facioscapulohumeral Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:00083079.9DMD, PDLIM3, SORBS2

Sources for Facioscapulohumeral Muscular Dystrophy 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet