MCID: MYP095
MIFTS: 25

Myopathy, Distal, 4 malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Distal, 4

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Aliases & Descriptions for Myopathy, Distal, 4:

Name: Myopathy, Distal, 4 51 69 12 67
Williams Distal Myopathy 24 69
Distal Myopathy 4 24 26
 
Mpd4 24 69
Distal Myopathy with Posterior Leg and Anterior Hand Involvement 53
Distal Abd-Filaminopathy 53

Characteristics:

Orphanet epidemiological data:

53
distal myopathy with posterior leg and anterior hand involvement:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

HPO:

63
myopathy, distal, 4:
Inheritance: autosomal dominant inheritance
Onset and clinical course: slow progression

Classifications:



External Ids:

OMIM51 614065
Orphanet53 ORPHA63273
ICD10 via Orphanet30 G71.0
MedGen36 C3279722
MeSH38 D049310

Summaries for Myopathy, Distal, 4

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OMIM:51 Williams distal myopathy is an autosomal dominant slowly progressive muscular disorder characterized by distal muscle... (614065) more...

MalaCards based summary: Myopathy, Distal, 4, is also known as williams distal myopathy, and has symptoms including hyporeflexia, muscle weakness and abnormality of the calf musculature. An important gene associated with Myopathy, Distal, 4 is FLNC (Filamin C).

UniProtKB/Swiss-Prot:69 Myopathy, distal, 4: A slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows non- specific changes with no evidence of rods, necrosis, or inflammation.

Related Diseases for Myopathy, Distal, 4

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Symptoms for Myopathy, Distal, 4

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Symptoms by clinical synopsis from OMIM:

614065

Clinical features from OMIM:

614065

Human phenotypes related to Myopathy, Distal, 4:

 63 (show all 7)
id Description HPO Frequency HPO Source Accession
1 hyporeflexia63 HP:0001265
2 muscle weakness63 HP:0001324
3 abnormality of the calf musculature63 HP:0001430
4 myopathy63 HP:0003198
5 distal upper limb amyotrophy63 HP:0007149
6 mildly elevated creatine phosphokinase63 HP:0008180
7 distal lower limb amyotrophy63 HP:0008944

UMLS symptoms related to Myopathy, Distal, 4:


calf muscle weakness

Drugs & Therapeutics for Myopathy, Distal, 4

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Drugs for Myopathy, Distal, 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Tacrolimusapproved, investigationalPhase 31074104987-11-3445643, 439492
Synonyms:
(-)-FK 506
(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-5,19-dihydroxy-3-{(1E)-1-[(1R,3R,4R)-4-hydroxy-3-methoxycyclohexyl]prop-1-en-2-yl}-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(prop-2-en-1-yl)-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-3H-15,19-epoxypyrido[2,1-c][1,4]oxazacyclotricosine-1,7,20,21(4H,23H)-tetrone
104987-11-3
109581-93-3 (Hydrate)
15,19-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclotricosine-1,7,20,21(23H)-tetrone,
3S-[3R*[E(1S*,3S*,4S*)],4S*,5R*,8S*,9E,12R*,14R*,15S*,16R*,18S*,19S*,26aR*]]-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-5, 19-dihydroxy-3-[2-(4-hydroxy-3-methoxycyclohexyl)-1-methylethenyl]-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(2-propenyl)-15,19-epoxy-3H-pyrido[2,1-c] [1,4] oxaazacyclotricosine-1,7,20,21(4H,23H)-tetrone
8-DEETHYL-8-[BUT-3-ENYL]-ASCOMYCIN
AC-1182
AC1L1K7H
AC1L97GB
AC1L9IBU
AKOS005145901
Advagraf
Ambap104987-11-3
Ambap5429
Anhydrous tacrolimus
BCBcMAP01_000194
BRD-K35452788-001-02-1
BSPBio-001279
BSPBio_001279
Bio-0921
Bio2_000470
Bio2_000950
C01375
C44H69NO10
CCRIS 7124
CHEBI:100924
CHEBI:61049
CHEMBL1200738
CID11158639
CID11556866
CID439492
CID445643
CID5372
CID5472317
CID6426916
CID6436007
CID6473866
CID6536850
CID6610362
CID6912836
CID9832283
CID9853905
CID9918805
CID9940643
CID9963169
CPD-10016
CPD000466356
D08556
DB00864
DivK1c_001040
FK 506
FK-506
FK5
FK506
FR 900506
FR-900506
 
FR900506
FT-0082660
Fk-506
Fujimycin
Graceptor
HMS1362O21
HMS1792O21
HMS1990O21
HMS2051C18
HMS2093M19
HMS503O21
IDI1_001040
IDI1_002225
K506
KBio1_001040
KBio2_000619
KBio2_003187
KBio2_005755
KBio3_001097
KBio3_001098
KBioGR_000619
KBioSS_000619
L 679934
L-679934
LCP-Tacro
LMPK04000003
LS-64247
MLS000759471
MLS001424054
Modigraf
MolPort-003-666-518
NCGC00163470-01
NCGC00163470-02
NCGC00163470-03
NCGC00163470-04
NCGC00179232-01
NChemBio.2007.16-comp1
NINDS_001040
NSC717865
Prograf
Prograf (TN)
Protopic
Protopy
S5003_Selleck
SAM001246677
SMR000466356
Tacarolimus
Tacrolimus (INN)
Tacrolimus (Prograf?)
Tacrolimus (anhydrous)
Tacrolimus anhydrous
Tacrolimus hydrate
Tacrolimus, anhydrous
Tsukubaenolide
UNII-Y5L2157C4J
nchembio.2007.23-comp2
tacrolimus
tacrolimus hydrate
2Calcineurin InhibitorsPhase 31597
3Immunosuppressive AgentsPhase 312770
4
Salicylic acidapproved, vet_approvedPhase 1, Phase 217569-72-7338
Synonyms:
105910_ALDRICH
105910_SIAL
2 Hydroxybenzoic Acid
2-Carboxyphenol
2-Hydroxybenzenecarboxylate
2-Hydroxybenzenecarboxylic acid
2-Hydroxybenzoate
2-Hydroxybenzoic acid
2-hydroxy(1-14c)benzoic acid
247588_SIAL
27301_SIAL
69-72-7
7681-06-3
8052-31-1
84210_FLUKA
84210_SIAL
AB1002436
AC1L190M
AC1Q1HCK
AC1Q72IF
AI3-02407
AKOS000118979
ALPHA/BETA HYDROXY ACIDS (SALICYLIC ACID) (SEE ALPHA/BETA HYDROXY ACIDS)
AR-1E2203
ATA fraction 10, ammonium salt
Acid, 2-Hydroxybenzoic
Acid, Salicylic
Acid, o-Hydroxybenzoic
Acid, ortho-Hydroxybenzoic
Acido o-idrossibenzoico
Acido o-idrossibenzoico [Italian]
Acido salicilico
Acido salicilico [Italian]
Acidum salicylicum
Advanced Pain Relief Callus Removers
Advanced Pain Relief Corn Removers
Advanced pain relief callus removers
Advanced pain relief corn removers
Akurza Cream
Akurza Lotion
Alpha/Beta Hydroxy Acids (Glycolic Acid, Salicylic Acid)
BENZOIC ACID,2-HYDROXY SALICYLIC ACID
BIDD:ER0602
BRN 0774890
Benzoic acid, 2-hydroxy- (9CI)
C00805
CCRIS 6714
CHEBI:16914
CHEMBL424
CID338
CMC_13852
Caswell No. 731
Clear away Wart Remover
Clear away wart remover
Compound W
Compound w
D00097
D020156
DB00936
DHS Sal Shampoo
DivK1c_000301
Domerine
Dr. Scholl'S Callus Removers
Dr. Scholl'S Corn Removers
Dr. Scholl'S Wart Remover Kit
Dr. Scholl's callus removers
Dr. Scholl's corn removers
Dr. Scholl's wart remover kit
DuoPlant Gel
Duofil Wart Remover
Duofil wart remover
Duofilm
Duoplant
E9A559BE-383B-4F83-BC02-3031D03D558A
EINECS 200-712-3
EPA Pesticide Chemical Code 076602
Freezone
H0206
HSDB 672
Hydrisalic Gel
I04-0192
IDI1_000301
InChI=1/C7H6O3/c8-6-4-2-1-3-5(6)7(9)10/h1-4,8H,(H,9,10
Ionil
Ionil Plus
Ionil plus
Ionil-Plus
 
K 537
K 557
KBio1_000301
KBio2_001428
KBio2_003996
KBio2_006564
KBioSS_001428
Keralyt
Kyselina 2-hydroxybenzoova
Kyselina 2-hydroxybenzoova [Czech]
Kyselina salicylova
Kyselina salicylova [Czech]
LS-2169
MLS000069653
Mediplast pads
MolPort-001-769-476
NCGC00159447-02
NCGC00159447-04
NINDS_000301
NSC 180
NSC180
NSC629474
O-Carboxyphenol
O-Hydroxybenzoate
O-Hydroxybenzoic acid
O-carboxyphenol
O-hydroxybenzoic acid
Occlusal
Oprea1_040343
Orthohydroxybenzoic acid
P&S Shampoo
Phenol-2-carboxylate
Phenol-2-carboxylic acid
Propa pH Peel-Off Acne Mask
Psoriacid-S-Stift
Psoriacid-S-stift
Retarder SAX
Retarder W
Rutranex
S5922_SIGMA
S7401_SIGMA
S8519_SIGMA
SALICYLIC ACID (SEE ALSO ALPHA HYDROXY ACIDS)
SALICYLIC ACID, ACS
SAX
SBB052826
SGCUT00012
SMP2_000145
SMR000059163
STK258681
Salex Cream
Salex Lotion
Salicyclic acid
Salicylate
Salicylic acid
Salicylic acid & Sulfur Soap
Salicylic acid (6CI,8CI)
Salicylic acid (JP15/USP)
Salicylic acid (TN)
Salicylic acid Soap
Salicylic acid [USAN:JAN]
Salicylic acid collodion
Salicylic acid soap
Salicylic acid, tech
Salicylic acid, tech.
Salicylic acid-ring-UL-14C
Saligel
Salonil
Sebucare
Sebulex
Spectrum_000948
Stri-Dex
Trans-Ver-Sal
UNII-O414PZ4LPZ
UPCMLD-DP126
UPCMLD-DP126:001
Verrugon
W398500_ALDRICH
WLN: QVR BQ
bmse000252
o Hydroxybenzoic Acid
o-Carboxyphenol
o-hydroxybenzoic acid
ortho Hydroxybenzoic Acid
ortho-Hydroxybenzoic Acid
phenol derivative, 7
salicylate
salicylic acid
to_000004
5
Coal tarapprovedPhase 21918007-45-2
Synonyms:
 
Coal tars
Tar, coal
6
Halofuginoneinvestigational, vet_approvedPhase 2555837-20-262894
Synonyms:
7-Bromo-6-chloro-3-[3-(3-hydroxy-2-piperidinyl)-2-oxopropyl]-4(3H)-quinazolinone, 9CI
C16H17BrClN3O3
 
Halofuginona
Halofuginone [inn:ban]
Halofuginonum
Tempostatin (Collgard Biopharmaceuticals)
7
Alginic acidPhase 1, Phase 2689005-32-7
Synonyms:
Alginate
E400
Gum levan
 
Kelacid
Levan gum
Norgine
Sazio
8Antiprotozoal AgentsPhase 21986
9Antiparasitic AgentsPhase 22127
10Angiogenesis Modulating AgentsPhase 24072
11Anti-Infective AgentsPhase 221402
12Angiogenesis InhibitorsPhase 24143
13
Histamine Phosphateapproved103351-74-165513
Synonyms:
1H-Imidazole-4-ethanamine, phosphate (1:2)
2-Imidazol-4-ylethylamine orthophosphoric acid (1:2)
4-(2-Aminoethyl)imidazole bis(dihydrogen phosphate)
4-(2-Aminoethyl)imidazole di-acid phosphate
4-2(2-Aminoethyl)Imidazole-Di-Acid Phosphate
51-74-1
53623-99-7
74-56-6
AC1L23E4
CID65513
D04445
DB00667
 
EINECS 200-118-4
H0147
Histamine acid phosphate
Histamine biphosphate
Histamine dihydrogen phosphate
Histamine diphosphate
Histamine phosphate (1:2)
Histamine phosphate (TN)
Histamine phosphate (USP)
Histamine phosphate [USP]
Histamine positive
Histaminum
LS-78569
UNII-QWB37T4WZZ
14
Histamineapproved103475614-87-8, 51-45-6774
Synonyms:
.beta.-Imidazolyl-4-ethylamine
1H-Imidazole-4-ethanamine
1H-Imidazole-5-ethanamine
1avn
1qft
2-(1H-Imidazol-4-yl)ethanamine
2-(1H-Imidazol-4-yl)ethylamine
2-(1H-Imidazol-5-yl)ethanamine
2-(1H-Imidazol-5-yl)ethylamine
2-(1H-imidazol-4-yl)ethan-1-amine
2-(1H-imidazol-5-yl)ethanamine
2-(3H-Imidazol-4-yl)-ethylamine
2-(4-Imidazolyl)ethanamine
2-(4-Imidazolyl)ethylamine
2-Imidazol-4-yl-Ethylamine
2-Imidazol-4-ylethylamine
2-[4-Imidazolyl]ethylamine
4-(2-Aminoethyl)-1H-imidazole
4-(2-Aminoethyl)imidazole
4-Imidazoleethylamine
5-Imidazoleethylamine
51-45-6
53290_FLUKA
64422-25-9
924364-91-0
AC-13185
AC1L19ZT
AC1Q54BV
AC1Q54BW
AKOS000274386
ALBB-005968
BCBcMAP01_000250
BSPBio_001117
BSPBio_002124
Bio1_000487
Bio1_000976
Bio1_001465
Bio2_000389
Bio2_000869
C00388
CCRIS 6535
CHEBI:18295
CHEMBL90
CID774
D08040
DivK1c_000308
EINECS 200-100-6
Eramin
Ergamine
Ergotidine
F411C768-A159-4FC0-A195-291A08BB03AA
Free histamine
H7125_SIGMA
HMS1362G19
HMS1792G19
HMS1990G19
HSDB 3338
HSM
Histamine
Histamine (DCF)
Histamine Base
Histamine [USAN]
Histamine, Free Base
Histaminum
 
Histaminum (TN)
IDI1_000308
IDI1_002144
Imidazole-4-ethylamine
Istamina
Istamina [Italian]
KBio1_000308
KBio2_000457
KBio2_001325
KBio2_003025
KBio2_003893
KBio2_005593
KBio2_006461
KBio3_000853
KBio3_000854
KBio3_001344
KBioGR_000457
KBioGR_001580
KBioSS_000457
KBioSS_001325
L-Histamin base
L-Histamine
L-histamine
L000292
LS-75835
Lopac-H-7250
Lopac0_000595
MLS000069447
MolPort-001-785-597
MolPort-002-042-264
NCGC00015513-01
NCGC00015513-08
NCGC00093371-02
NCGC00093371-03
NCGC00093371-04
NCGC00093371-05
NINDS_000308
NSC 33792
NSC33792
SDCCGMLS-0066601.P001
SMP1_000151
SMR000059091
SPBio_000729
ST073926
STK346752
STOCK5S-55669
Spectrum2_000665
Spectrum3_000452
Spectrum4_000960
Spectrum5_000796
Spectrum_000845
Theramine
UNII-820484N8I3
WLN: T5M CNJ D2Z
ZERO/004089
[3H]histamine
b-Imidazolyl-4-ethylamine
beta-Aminoethylglyoxaline
beta-Aminoethylimidazole
beta-Aminothethylglyoxaline
beta-Imidazolyl-4-ethylamine
beta-aminothethylglyoxaline
bmse000744
histamine
nchembio.87-comp54
nchembio714-comp1
15
Cyproheptadineapproved20129-03-32913
Synonyms:
1-Methyl-4-(5-dibenzo(a,e)cycloheptatrienylidene)piperidine
1-Methyl-4-(5H-dibenzo(a,d)cycloheptenylidene)piperidine
1-methyl-4-(5-dibenzo(a,e)cycloheptatrienylidene)piperidine
129-03-3
4-(5-Dibenzo(a,D)cyclohepten-5-ylidine)-1-methylpiperidine
4-(5-Dibenzo(a,d)cyclohepten-5-ylidine)-1-methylpiperidine
4-(5H-Dibenzo(a,D)cyclohepten-5-ylidene)-1-methylpiperidine
4-(5H-Dibenzo(a,d)cyclohepten-5-ylidene)-1-methylpiperidene
4-(5H-Dibenzo(a,d)cyclohepten-5-ylidene)-1-methylpiperidine
4-(5H-Dibenzo[a,d]cyclohepten-5-ylidene)-1-methylpiperidine
4-(5H-dibenzo[a,d][7]annulen-5-ylidene)-1-methylpiperidine
4-Dibenzo[a,D]cyclohepten-5-ylidene-1-methyl-piperidine
41354-29-4
5-(1-Methylpiperidylidene-4)-5H-dibenzo(a,d)cyclopheptene
5-(1-methylpiperidylidene-4)-5H-dibenzo(a,d)cyclopheptene
5-20-08-00500 (Beilstein Handbook Reference)
AC1L1ER8
AKOS004119847
Axoprol
BIDD:GT0324
BPBio1_000096
BPBio1_000155
BRD-K28143534-001-01-4
BRD-K28143534-003-03-6
BRN 1685976
BSPBio_000086
Biomol-NT_000131
C06935
CAS-969-33-5
CCRIS 5232
CHEBI:4046
CHEMBL516
CID2913
CYPROHEPTADINE
Ciproheptadina
Ciproheptadina [INN-Spanish]
Ciprovit
Ciprovit (TN)
Cypoheptadine
Cyproheptadiene
Cyproheptadin
Cyproheptadine
 
Cyproheptadine (INN)
Cyproheptadine Hcl
Cyproheptadine [INN:BAN]
Cyproheptadinum
Cyproheptadinum [INN-Latin]
D07765
DB00434
Dibenzosuberonone/Cyproheptadine
Dihexazin
Dronactin
EINECS 204-928-9
Eiproheptadine
Glutodina
HMS2090P20
HSDB 3048
L001016
LS-114933
Lopac-C-6022
Lopac0_000246
MK 141
MolPort-002-507-777
NCGC00015252-01
NCGC00015252-02
NCGC00015252-03
NCGC00015252-09
NCGC00024293-02
NCGC00024293-04
NCGC00024293-05
Oprea1_498140
PDSP1_001229
PDSP2_001213
Periactin
Periactine
Periactinol
Prestwick0_000103
Prestwick1_000103
Prestwick2_000103
Prestwick3_000103
SPBio_002025
STK802098
Tocris-0996
UNII-2YHB6175DO
Viternum
nchembio.559-comp10
16
Benzocaineapproved18921994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
 
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
17tannic acidapproved, Nutraceutical1892
18Anesthetics9001
19Neurotransmitter Agents17734
20
Serotonin356650-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
21Serotonin Antagonists1381
22Serotonin Agents3102
23Antipruritics864
24Chelating Agents1365
25Anti-Allergic Agents1490
26Dermatologic Agents5674
27Gastrointestinal Agents8109
28Histamine Antagonists946
29Histamine H1 Antagonists782

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1Chronic Insertional Achilles Tendonitis Treated With or Without Flexor Hallucis Longus Tendon TransferCompletedNCT00950053Phase 4
2FK506 Phase 3 Study: a Study for Steroid Non-resistant Myasthenia Gravis (MG) PatientsCompletedNCT00309088Phase 3
3Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)Active, not recruitingNCT02377921Phase 3
4Study to Evaluate the Safety and Efficacy of Ace-ER Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body MyopathyEnrolling by invitationNCT02736188Phase 3
5Treatment Outcomes for Temporomandibular Disorders (TMD) Via the Clayton Intra-aural Device (CID) Clinical TrialCompletedNCT00815776Phase 1, Phase 2
6HT-100 Long-term Study in DMD Patients Who Completed HALO-DMD-02Enrolling by invitationNCT02525302Phase 2
7Phase I Clinical Trial of ManNAc in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM)CompletedNCT01634750Phase 1
8Safety and Pharmacokinetics of Sialic Acid Tables in Patients With Hereditary Inclusion Body Myopathy (HIBM)CompletedNCT01359319Phase 1
9Neuromuscular Transmission in Amyotrophic Lateral SclerosisCompletedNCT00847847
10Stimulating Self Management in Patients With Fibromyalgia Through Web-based Situational FeedbackCompletedNCT01236209
11Altering Activation Patterns Post-strokeRecruitingNCT02418949
12The Effect Of Stretching Exercise on Pectoralis Minor Myofascial Latent Trigger PointsEnrolling by invitationNCT02699294
13Graded Motor Imagery for Women at Risk for Developing Type I CRPS Following Closed Treatment of Distal Radius FracturesNot yet recruitingNCT02957240

Search NIH Clinical Center for Myopathy, Distal, 4

Genetic Tests for Myopathy, Distal, 4

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Genetic tests related to Myopathy, Distal, 4:

id Genetic test Affiliating Genes
1 Myopathy, Distal, 426
2 Distal Myopathy 424 FLNC

Anatomical Context for Myopathy, Distal, 4

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Animal Models for Myopathy, Distal, 4 or affiliated genes

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Publications for Myopathy, Distal, 4

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Variations for Myopathy, Distal, 4

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UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Distal, 4:

69
id Symbol AA change Variation ID SNP ID
1FLNCp.Ala193ThrVAR_066212rs387906587
2FLNCp.Met251ThrVAR_066213rs387906586

Clinvar genetic disease variations for Myopathy, Distal, 4:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FLNCNM_001458.4(FLNC): c.752T> C (p.Met251Thr)SNVPathogenicrs387906586GRCh37Chr 7, 128477504: 128477504
2FLNCNM_001458.4(FLNC): c.577G> A (p.Ala193Thr)SNVPathogenicrs387906587GRCh37Chr 7, 128475604: 128475604

Expression for genes affiliated with Myopathy, Distal, 4

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Search GEO for disease gene expression data for Myopathy, Distal, 4.

Pathways for genes affiliated with Myopathy, Distal, 4

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GO Terms for genes affiliated with Myopathy, Distal, 4

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Sources for Myopathy, Distal, 4

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet