MCID: SPN315
MIFTS: 48

Spinal Muscular Atrophy-1 malady

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

Aliases & Classifications for Spinal Muscular Atrophy-1

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Aliases & Descriptions for Spinal Muscular Atrophy-1:

Name: Spinal Muscular Atrophy-1 51 12
Werdnig-Hoffmann Disease 11 47 53 49 13
Werdnig-Hoffman Disease 11 48 69
Sma1 47 53 69
Proximal Spinal Muscular Atrophy Type 1 47 53
Infantile Muscular Atrophy 11 69
Spinal Muscular Atrophy 1 47 69
Werdnig Hoffmann Disease 47 26
Hmn Proximal Type I 11 67
Sma Type 1 47 53
Sma Type I 47 53
Sma-I 47 53
 
Proximal Hereditary Motor Neuropathy Type I 69
Hereditary Motor Neuropathy Proximal Type I 11
Proximal Spinal Muscular Atrophy, Type 1 47
Progressive Muscular Atrophy of Infancy 11
Infantile Spinal Muscular Atrophy 53
Spinal Muscular Atrophy, Type I 51
Spinal Muscular Atrophy Type I 69
Muscular Atrophy, Infantile 47
Sma, Infantile Acute Form 47
Sma Infantile Acute Form 69
Sma I 69

Characteristics:

Orphanet epidemiological data:

53
werdnig-hoffmann disease:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

63
spinal muscular atrophy-1:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 253300
Disease Ontology11 DOID:13137
ICD1029 G12.0
ICD9CM31 335.0
MeSH38 D014897
NCIt44 C98670
Orphanet53 ORPHA83330
ICD10 via Orphanet30 G12.0
MedGen36 C0043116

Summaries for Spinal Muscular Atrophy-1

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NINDS:48 Spinal Muscular Atrophy (SMA) Types I, II, and III belong to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. The type of SMA (I, II, or III) is determined by the age of onset and the severity of symptoms. Type I (also known as Werdnig-Hoffman disease, or infantile-onset SMA) is evident at birth or within the first few months. Symptoms include floppy limbs and trunk, feeble movements of the arms and legs, swallowing and feeding difficulties, and impaired breathing. Type II (the intermediate form) usually begins 6 and 18 months of age. Legs tend to be more impaired than arms. Children with Type II may able to sit and some may be able to stand or walk with help. Symptoms of Type III (also called Kugelberg-Welander disease) appear between 2 and 17 years of age and include difficulty running, climbing steps, or rising from a chair.

MalaCards based summary: Spinal Muscular Atrophy-1, also known as werdnig-hoffmann disease, is related to spinal muscular atrophy-3 and spinal muscular atrophy-2, and has symptoms including areflexia, tongue fasciculations and decreased fetal movement. An important gene associated with Spinal Muscular Atrophy-1 is SMN1 (Survival Of Motor Neuron 1, Telomeric), and among its related pathways is TP53 Regulates Metabolic Genes. Affiliated tissues include spinal cord, brain and tongue.

UniProtKB/Swiss-Prot:69 Spinal muscular atrophy 1: A form of spinal muscular atrophy, a group of neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Autosomal recessive forms are classified according to the age of onset, the maximum muscular activity achieved, and survivorship. The severity of the disease is mainly determined by the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amount of full-length transcripts that encode for a protein identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation. SMA1 is a severe form, with onset before 6 months of age. SMA1 patients never achieve the ability to sit.

OMIM:51 Spinal muscular atrophy refers to a group of autosomal recessive neuromuscular disorders characterized by degeneration... (253300) more...

NIH Rare Diseases:47 Spinal muscular atrophy 1 (SMA1), also known as Werdnig Hoffmann disease, is a severe type of spinal muscular atrophy. Symptoms of SMA1 become apparent before 6 months of age and include worsening muscle weakness and poor muscle tone (hypotonia) due to loss of the lower motor neurons in the spinal cord and brain stem. Feeding and breathing problems are also present. SMA1 is caused by changes (mutations) in the SMN1 gene and is typically inherited in an autosomal recessive manner. Around 2% of cases are not inherited and are due to new mutations in the affected person. Treatment is symptomatic and aims to improve quality of life. Last updated: 9/21/2016

Related Diseases for Spinal Muscular Atrophy-1

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Diseases in the Spinal Muscular Atrophy family:

spinal muscular atrophy-1 Spinal Muscular Atrophy-2
Spinal Muscular Atrophy-3 Spinal Muscular Atrophy-4
Congenital Benign Spinal Muscular Atrophy Dominant

Diseases related to Spinal Muscular Atrophy-1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1spinal muscular atrophy-331.5NAIP, SMN1, SMN2
2spinal muscular atrophy-226.7COX14, FKTN, IGHMBP2, NAIP, SCO2, SMN1
3neuronopathy, distal hereditary motor, type vi11.0
4spinal muscular atrophy, x-linked 2, infantile10.9
5spinal muscular atrophy type 1 with congenital bone fractures10.8
6spinal muscular atrophy, lower extremity-predominant 1, ad10.8
7pontocerebellar hypoplasia type 1a10.8
8spinal and bulbar muscular atrophy of kennedy10.8
9proximal spinal muscular atrophy10.8
10spinal muscular atrophy10.5
11muscular atrophy10.5
12survival motor neuron spinal muscular atrophy10.3
13sandhoff disease, infantile, juvenile, and adult forms10.3SMN1, SMN2
14exudative vitreoretinopathy10.2SMN1, SMN2
15occupational dermatitis10.2SMN1, SMN2
16sptb-related spherocytosis10.1SMN1, SMN2
17dysentery10.1NAIP, SMN1, SMN2
18spinal muscular atrophy-410.0NAIP, SMN1, SMN2
19radio-ulnar synostosis type 110.0NAIP, SMN1, SMN2
20mucopolysaccharidosis iii10.0NAIP, SMN1, SMN2
21childhood oligodendroglioma9.9SMN1, SMN2
22classic variant of chromophobe renal cell carcinoma9.9FKTN, SMN1, SMN2
23breast adenoid cystic carcinoma9.6IGHMBP2, SMN1, SMN2, VRK1
24long qt syndrome 59.5NAIP, SMN1, SMN2, SYP
25testicular thecoma8.6IGHMBP2, NAIP, SMN1, SMN2, VRK1, ZPR1
26splenic marginal zone lymphoma8.5IGHMBP2, NAIP, SMN1, SMN2, VRK1, ZPR1
27pain disorder8.0COX14, FKTN, NAIP, SMN1, SMN2, VRK1

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy-1:



Diseases related to spinal muscular atrophy-1

Symptoms for Spinal Muscular Atrophy-1

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Symptoms by clinical synopsis from OMIM:

253300

Clinical features from OMIM:

253300

Human phenotypes related to Spinal Muscular Atrophy-1:

 63 (show all 11)
id Description HPO Frequency HPO Source Accession
1 areflexia63 HP:0001284
2 tongue fasciculations63 HP:0001308
3 decreased fetal movement63 HP:0001558
4 ventricular septal defect63 HP:0001629
5 atria septal defect63 HP:0001631
6 recurrent respiratory infections63 HP:0002205
7 respiratory failure63 HP:0002878
8 emg63 HP:0003445
9 proximal amyotrophy63 HP:0007126
10 spinal muscular atrophy63 HP:0007269
11 proximal muscle weakness in lower limbs63 HP:0008994

Drugs & Therapeutics for Spinal Muscular Atrophy-1

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Drugs for Spinal Muscular Atrophy-1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 65)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcholineapprovedPhase 477651-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
2Neurotransmitter AgentsPhase 4, Phase 3, Phase 1, Phase 217734
3onabotulinumtoxinAPhase 4626
4abobotulinumtoxinAPhase 4626
5Neuromuscular AgentsPhase 41129
6Peripheral Nervous System AgentsPhase 4, Phase 2, Early Phase 122776
7rimabotulinumtoxinBPhase 417
8Botulinum ToxinsPhase 4669
9incobotulinumtoxinAPhase 4635
10Botulinum Toxins, Type APhase 4630
11Cholinergic AgentsPhase 4, Phase 23846
12
HydroxyureaapprovedPhase 2, Phase 3, Phase 1215127-07-13657
Synonyms:
1-HYDROXYUREA
127-07-1
4-03-00-00170 (Beilstein Handbook Reference)
55291_FLUKA
AC1L1GF8
AC1Q4ZXK
AI3-51139
BB_SC-7256
BRN 1741548
BSPBio_002164
Bio1_000451
Bio1_000940
Bio1_001429
Biosupressin
C07044
CCRIS 958
CHEBI:44423
CHEMBL467
CID3657
Carbamohydroxamic Acid
Carbamohydroxamic acid
Carbamohydroximic Acid
Carbamohydroximic acid
Carbamohydroxyamic Acid
Carbamohydroxyamic acid
Carbamoyl Oxime
Carbamoyl oxime
Carbamyl Hydroxamate
Carbamyl hydroxamate
Carrbamoyl Oxime
D00341
D006918
DB01005
DRG-0253
DivK1c_000556
Droxia
Droxia (TM)
Droxia (TN)
E0723DBA-5AF3-49D1-B5F6-59420AB87AC9
EINECS 204-821-7
EU-0100596
FT-0083575
H 8627
H0310
H20210
H8627_SIGMA
HMS1920F09
HMS2091L17
HMS501L18
HSDB 6887
HU
HYDREA (TN)
HYDROXY-UREA
Hidrix
Hidroxicarbamida
Hidroxicarbamida [INN-Spanish]
Hydrea
Hydrea (TM)
Hydrea, Biosupressin, Cytodrox, Hydroxyurea
Hydreia
Hydroxicarbamidum
Hydroxycarbamid
Hydroxycarbamide
Hydroxycarbamide (JAN/INN)
Hydroxycarbamidum
Hydroxycarbamidum [INN-Latin]
Hydroxycarbamine
Hydroxyharnstoff
Hydroxyharnstoff [German]
Hydroxylurea
Hydroxyurea
Hydroxyurea (D4)
Hydroxyurea (USP)
Hydroxyurea [USAN:BAN]
Hydroxyurea(d4)
 
Hydura
Hydurea
I05-0250
IDI1_000556
Idrossicarbamide
Idrossicarbamide [DCIT]
Idrossicarbamide [Dcit]
KBio1_000556
KBio2_001389
KBio2_003957
KBio2_006525
KBio3_001384
KBioGR_000383
KBioSS_001389
LS-709
Litaler
Litalir
Lopac-H-8627
Lopac0_000596
MLS001332381
MLS001332382
MLS002153389
MolMap_000029
MolPort-000-003-971
Mylocel
N-(Aminocarbonyl) Hydroxyamine
N-Carbamoylhydroxylamine
N-HYDROXY UREA
N-Hydroxymocovina
N-Hydroxymocovina [Czech]
N-Hydroxyurea
NCGC00015520-01
NCGC00015520-02
NCGC00015520-07
NCGC00093974-01
NCGC00093974-02
NCGC00093974-03
NCGC00093974-04
NCGC00093974-05
NCI C04831
NCI-C04831
NCI60_002773
NCIMech_000139
NHY
NINDS_000556
NSC 32065
NSC32065
Onco-Carbide
Onco-carbide
Oncocarbide
Oxyurea
S-phase/G-1 interface inhibitor
S1896_Selleck
SK 22591
SMR000059149
SPBio_000247
SPECTRUM1500344
SQ 1089
SQ-1089
Siklos
Spectrum2_000064
Spectrum3_000462
Spectrum4_000012
Spectrum5_000836
Spectrum_000909
Sterile Urea
TL8000673
UNII-X6Q56QN5QC
Ureaphil
WLN: ZVMQ
carbamide oxide
hydroxyaminomethanamide
hydroxyurea
nchembio.573-comp3
nchembio.90-comp4
nchembio749-comp3
tetratogen: inhibits ribonucleoside diphosphate reductase
13
Valproic Acidapproved, investigationalPhase 3, Phase 1, Phase 232299-66-13121
Synonyms:
(N-C3H7)2CHCOOH
(S)-2-propyl-4-pentanoate
(S)-2-propyl-4-pentanoic acid
2 PP (base)
2-N-Propyl-N-valeric acid
2-Propyl-Pentanoate
2-Propyl-Pentanoic acid
2-Propylpentanoate
2-Propylpentanoic Acid
2-Propylpentanoic acid
2-Propylvaleric Acid
2-Propylvaleric acid
2-n-Propyl-n-valeric acid
2-n-propyl-n-valeric acid
2-propyl-pentanoic acid
2-propylvaleric acid
4-Heptanecarboxylic acid
4-heptanecarboxylic acid
76584-70-8 (hydrochloride salt (2:1))
99-66-1
AC1L1F7T
AC1Q2ULA
AI3-10500
APO-divalproex
Abbott 44090
Acide valproique
Acide valproique [INN-French]
Acide valproique [inn-french]
Acido valproico
Acido valproico [INN-Spanish]
Acido valproico [inn-spanish]
Acidum valproicum
Acidum valproicum [INN-Latin]
Acidum valproicum [inn-latin]
Alti-Valproic
Alti-valproic
Apo-valproic
Apo-valproic syrup
Avugane
BIDD:GT0858
BRN 1750447
Baceca
C07185
CHEBI:39867
CHEMBL109
CID3121
CPD000499581
Convulex
Convulsofin
D00399
DB00313
DOM-divalproex
DOM-valproic
DOM-valproic acid E.C.
DPA
Delepsine
Depacon
Depakene
Depakene (TN)
Depakin
Depakin chrono
Depakine
Depakine chrono
Depakote
Depakote (TM)
Deproic
Di-N-propylacetic acid
Di-N-propylessigsaure
Di-N-propylessigsaure [german]
Di-n-propylacetic acid
Di-n-propylessigsaeure
Di-n-propylessigsaure
Di-n-propylessigsaure [German]
Di-n-propylessigsäure
Dipropyl Acetate
Dipropylacetate
Dipropylacetic acid
DivK1c_000273
Divalproex
Dom-Valproic
Dom-valproate
Dom-valproic acid
Dom-valproic acid syrup
EINECS 202-777-3
Epiject I.V.
Epilex
Epilim
Epival
Epival er
Ergenyl
G2M-777
Gen-divalproex
HMS2089J06
HSDB 3582
I04-0211
InChI=1/C8H16O2/c1-3-5-7(6-4-2)8(9)10/h7H,3-6H2,1-2H3,(H,9,10)
KBio1_000273
KBio2_001001
KBio2_002277
KBio2_003569
KBio2_004845
 
KBio2_006137
KBio2_007413
KBio3_002626
KBio3_002757
KBioGR_000871
KBioGR_002277
KBioSS_001001
KBioSS_002278
Kyselina 2-propylvalerova
Kyselina 2-propylvalerova [Czech]
LS-161170
LS-2068
MLS001076682
MLS001335927
MLS001335928
MLS002415770
Med Valproic
Med valproic
MolPort-001-791-895
Mylproin
Myproate
Myproic Acid
Myproic acid
N-DPA
N-Dipropylacetic acid
NCGC00091149-01
NCGC00091149-02
NCGC00091149-03
NCGC00091149-04
NINDS_000273
NSC 93819
NSC93819
Novo-Valproic
Novo-Valproic - ECC
Novo-divalproex
Novo-valproic
Novo-valproic soft gel cap
Nu-Valproic
Nu-valproic
P0823
P6273_SIGMA
PEAC
PHL-valproate
PHL-valproic acid
PHL-valproic acid E.C.
PMS-Divalproex
PMS-Valproic Acid
PMS-valproate
PMS-valproic acid
PMS-valproic acid E.C.
Penta-Valproic
Penta-valproic
Propylvaleric acid
Ratio-Valproic - ECC
S(-)-4-En-valproate
S(-)-4-En-valproic acid
S-2-N-Propyl-4-pentenoate
S-2-N-Propyl-4-pentenoic acid
SAM002564230
SBB065764
SMR000499581
SPBio_000912
Sandoz valproic
Savicol
Semisodium Valproate
Sodium hydrogen divalproate
Spectrum2_000946
Spectrum3_001733
Spectrum4_000376
Spectrum_000521
Sprinkle
Stavzor
UNII-614OI1Z5WI
VALPROIC ACID
VPA
Valcote
Valparin
Valproate
Valproate semisodique [French]
Valproate semisodium
Valproato semisodico [Spanish]
Valproatum seminatricum [Latin]
Valproic Acid, Sodium Salt (2:1)
Valproic acid
Valproic acid (USP)
Valproic acid USP
Valproic acid USP24
Valproic acid [USAN:INN:BAN]
Valproic acid [usan:ban:inn]
Valproinsaeure
Valproinsäure
Vupral
WLN: QVY3 & 3
acide valproïque
acidum valproicum
di-n-propylacetic acid
n-DPA
n-Dipropylacetic acid
nchembio.79-comp4
nchembio815-comp21
valproate
valproic acid
ácido valproico
14
4-AminopyridineapprovedPhase 2, Phase 368504-24-51727
Synonyms:
.gamma.-Aminopyridine
275875_ALDRICH
36687_FLUKA
36687_RIEDEL
4 AP
4 Aminopyridine
4 Aminopyridine Sustained Release
4-AP
4-Aminopyridine
4-Aminopyridine 10
4-Aminopyridine Sustained Release
4-Pyridinamine
4-Pyridylamine
4-aminopyridine
5-22-09-00106 (Beilstein Handbook Reference)
504-24-5
A 0152
A0414
A78403_ALDRICH
AB1004971
AC-907/25014071
AC1L1C3R
AC1Q52BM
AI3-52547
AKOS000119896
Amaya
Amino-4 pyridine
Amino-4-Pyridine
Ampydin
Ampyra
Avitrol
Avitrol 200
BB_SC-6974
BRN 0105782
BSPBio_001562
Bio1_000353
Bio1_000842
Bio1_001331
Bio2_000282
Bio2_000762
C13728
C5H6N2
CHEBI:34385
CHEMBL284348
CID1727
Caswell No. 038
Compound 1861
D015761
D04127
Dalfampridine
DivK1c_000572
EINECS 207-987-9
EL-970
EPA Pesticide Chemical Code 069201
EU-0100032
FT-0083754
Fampridina
Fampridine
Fampridine (USAN/INN)
Fampridine SR
Fampridine [USAN:INN]
Fampridine-PR
Fampridine-SR
Fampridinum
HC150041
HMS1361O04
HMS1791O04
HMS1921H15
HMS1989O04
HMS2092F05
HMS501M14
HSDB 6037
IDI1_000572
IDI1_034032
InChI=1/C5H6N2/c6-5-1-3-7-4-2-5/h1-4H,(H2,6,7
KBio1_000572
 
KBio2_000282
KBio2_000635
KBio2_002850
KBio2_003203
KBio2_005418
KBio2_005771
KBio3_000563
KBio3_000564
KBio3_001888
KBioGR_000282
KBioGR_001505
KBioSS_000282
KBioSS_000635
LS-130202
Lopac-A-0152
Lopac0_000032
MLS000069400
Mi-W-3
MolPort-000-146-022
N07XX07
NCGC00015009-01
NCGC00015009-03
NCGC00015009-12
NCGC00024890-01
NCGC00024890-02
NCGC00024890-03
NCGC00024890-04
NCGC00024890-05
NCGC00024890-06
NCGC00024890-07
NCGC00024890-08
NCGC00024890-09
NCGC00024890-10
NINDS_000572
NSC 15041
NSC15041
Neurelan
Neurelan (TN)
P-Aminopyridine
PYRIDINE,4-AMINO
Philips 1861
Phillips 1861
Pimadin (free base)
Prc 1237
Pymadin
Pymadine
RCRA waste no. P008
SDCCGMLS-0066228.P001
SMR000058211
SPBio_001486
SPECTRUM1501130
STK298717
Spectrum2_001413
Spectrum3_000914
Spectrum4_001013
Spectrum5_001501
Spectrum_000155
Sustained Release, 4-Aminopyridine
TL8003344
Tocris-0940
UNII-BH3B64OKL9
UPCMLD-DP125
UPCMLD-DP125:001
VMI 10-3
VMI 103
VMI-10-3
VMI-103
VMI103
WLN: T6NJ DZ
[J.Pharmacol.Exp.Ther. 275:864 (1995)]
gamma-Aminopyridine
nchem.892-comp4
p-Aminopyridine
p-Aminopyridine [UN2671] [Poison]
p-Aminopyridine [UN2671] [Poison]
pyridin-4-amine
pyridin-4-ylamine
15Nucleic Acid Synthesis InhibitorsPhase 2, Phase 3, Phase 14855
16Pharmaceutical SolutionsPhase 2, Phase 3, Phase 1, Early Phase 17793
17GABA AgentsPhase 3, Phase 1, Phase 21622
18Central Nervous System DepressantsPhase 3, Phase 1, Phase 212806
19Tranquilizing AgentsPhase 3, Phase 1, Phase 24164
20Antimanic AgentsPhase 3, Phase 1, Phase 2790
21Psychotropic DrugsPhase 3, Phase 1, Phase 26279
22gamma-GlobulinsPhase 2, Phase 3317
23ImmunoglobulinsPhase 2, Phase 36045
24AntibodiesPhase 2, Phase 36045
25Potassium Channel BlockersPhase 2, Phase 3176
26Immunoglobulins, IntravenousPhase 2, Phase 3324
27Rho(D) Immune GlobulinPhase 2, Phase 3317
28AnticonvulsantsPhase 3, Phase 1, Phase 22620
29carnitineNutraceuticalPhase 3, Phase 1, Phase 2158
30
Methylcobalaminexperimental, NutraceuticalPhase 2, Phase 324813422-55-4
Synonyms:
Algobaz
Co-Methylcobalamin
Co-methylcobalamin
Hitocobamin M
MeCbl
Mecobalamin
Methycobal
 
Methyl cobalamine
Methyl vitamin B12
Methyl-5,6-dimethylbenzimidazolylcobalamin
Methyl-B12
Methylcob(III)alamin
Methylcobalamin
Methylcobaz
mecobalamin
methyl(III)cobalamin
31
Celecoxibapproved, investigationalPhase 2435169590-42-52662
Synonyms:
169590-42-5
184007-95-2
1oq5
4-(5-(4-Methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)benzenesulfonamide
4-[5-(4-METHYLPHENYL)-3-(TRIFLUOROMETHYL)-1H-PYRAZOL-1-YL]BENZENESULFONAMIDE
4-[5-(4-methylphenyl)-3-(trifluoromethyl)-1Hpyrazol-1-yl] benzenesulfonamide
4-[5-(4-methylphenyl)-3-(trifluoromethyl)pyrazol-1-yl]benzenesulfonamide
AC-4228
AC1L1E6K
AI-525
BIDD:GT0408
BRD-K02637541-001-02-4
BSPBio_003596
Benzenesulfonamide,4-(5-(4-methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)
C07589
C105934
C17H14F3N3O2S
CCRIS 8679
CEL
CEP-33222
CHEBI:41423
CHEMBL118
CID2662
CPD000550473
Celebra
Celebrex
Celebrex (TN)
Celebrex, Celebra, Celecoxib
Celecox
Celecoxi
Celecoxib
Celecoxib (JAN/USAN/INN)
Celecoxib (SC-58635)
Celecoxib [Old RN]
Celecoxib [USAN]
Celecoxibum
Celocoxib
Célécoxib
D00567
DB00482
DivK1c_000893
Eurocox
FT-0080064
HMS1922G14
HMS2089L18
HMS2093I07
HMS502M15
HSDB 7038
I01-1033
IDI1_000893
KBio1_000893
KBio2_000912
 
KBio2_002351
KBio2_003480
KBio2_004919
KBio2_006048
KBio2_007487
KBio3_002830
KBio3_003037
KBioGR_000723
KBioGR_002351
KBioSS_000912
KBioSS_002354
LS-31667
MLS001165684
MLS001195656
MLS001304708
Medicoxib
MolPort-002-885-815
NCGC00091455-01
NCGC00091455-02
NCGC00091455-03
NCGC00091455-04
NCI60_041049
NINDS_000893
NSC719627
Onsenal
P-(5-P-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
Pfizer brand of celecoxib
S1261_Selleck
SAM002589995
SC 58635
SC-58553, SC-58635
SC-58635
SC58635
SMR000550473
SPBio_001512
SPECTRUM1503678
Solexa
Spectrum2_001576
Spectrum3_001996
Spectrum4_000182
Spectrum5_001324
Spectrum_000432
TL8001323
TPI-336
UNM-0000305813
Xilebao
YM 177
YM-177
YM177
ZINC02570895
cMAP_000027
celecoxib
p-(5-p-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
32Antirheumatic AgentsPhase 210627
33Interleukin 1 Receptor Antagonist ProteinPhase 296
344-phenylbutyric acidPhase 1, Phase 248
35BromidesPhase 2606
36Pyridostigmine BromidePhase 225101-26-8
37Cholinesterase InhibitorsPhase 2570
38Cyclooxygenase InhibitorsPhase 22778
39Anti-Inflammatory Agents, Non-SteroidalPhase 24295
40Cyclooxygenase 2 InhibitorsPhase 2616
41Anti-Inflammatory AgentsPhase 210355
42AnalgesicsPhase 211287
43Analgesics, Non-NarcoticPhase 26260
44
Itraconazoleapproved, investigationalPhase 114784625-61-655283
Synonyms:
(+-)-1-sec-Butyl-4-(p-(4-(p-(((2R*,4S*)-2-(2,4-dichlorophenyl)-2-(1H-1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl)methoxy)phenyl)-1-piperazinyl)phenyl)-delta(sup 2)-1,2,4-triazolin-5-one
(+/-)-1-[( R *)- sec -butyl]-4-[ p -[4-[ p -[[(2 R *,4 S *)-2-(2,4-dichlorophenyl)-2-(1 H -1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]-1-piperazinyl]phenyl]-(DELTA) 2 1,2,4-triazolin-5-one mixture with (+/-)-1-[( R *)- sec -butyl]-4-[ p -[4- [ p -[[(2 S *,4 R *)-2-(2,4-dichlorophenyl)-2-(1 H -1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]-1-piperazinyl] phenyl]-(DELTA) 2 -1,2,4-triazolin-5-one
(1)-cis-4-(4-(4-(4-((2-(2,4-Dichlorophenyl)-2-(1H-1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl)methoxy)phenyl)piperazin-1-yl)phenyl)-2,4-dihydro-2-sec-butyl-3H-1,2,4-triazol-3-one
2-(butan-2-yl)-4-{4-[4-(4-{[(2R,4S)-2-(2,4-dichlorophenyl)-2-(1H-1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazin-1-yl]phenyl}-2,4-dihydro-3H-1,2,4-triazol-3-one
2-butan-2-yl-4-[4-[4-[4-[[(2R,4S)-2-(2,4-dichlorophenyl)-2-(1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]piperazin-1-yl]phenyl]-1,2,4-triazol-3-one
2-butan-2-yl-4-[4-[4-[4-[[(2S,4R)-2-(2,4-dichlorophenyl)-2-(1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]piperazin-1-yl]phenyl]-1,2,4-triazol-3-one
2-butan-2-yl-4-[4-[4-[4-[[2-(2,4-dichlorophenyl)-2-(1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]piperazin-1-yl]phenyl]-1,2,4-triazol-3-one
3H-1,2,4-Triazol-3-one, 4-[4-[4-[4-[[2-(2,4-dichlorophenyl)-2-(1H-1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]-1-pipera-zinyl]phenyl]-2,4-dihydro-2-(1-methylpropyl)
4-(4-{4-[4-({[(2R,4S)-2-(2,4-dichlorophenyl)-2-(1H-1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methyl}oxy)phenyl]piperazin-1-yl}phenyl)-2-(1-methylpropyl)-2,4-dihydro-3H-1,2,4-triazol-3-one
84604-65-9
84625-61-6
AC-542
AC1L1GQ5
AC1L1IRU
AC1OCEL7
AC1Q6EZ3
AKOS000280875
Ambap84625-61-6
BIDD:GT0796
BRN 6042047
C35H38Cl2N8O4
CHEBI:6076
CHEMBL22587
CHEMBL882
CID3793
CID55283
CID6917738
CID9961741
CPD000058959
Canadiol
D00350
DB01167
EINECS 283-347-2
FT-0082511
HMS2051K14
HMS2090M20
Hyphanox
I01-1043
I0732
ITC
ITCZ
ITZ
Intraconazole
 
Itraconazol
Itraconazol [Spanish]
Itraconazole
Itraconazole & Bovine Lactoferrin
Itraconazole & Nyotran
Itraconazole & Nyotran(Liposomal Nystatin)
Itraconazole (JAN/USAN)
Itraconazole [USAN:BAN:INN:JAN]
Itraconazole oral solution
Itraconazolum
Itraconazolum [Latin]
Itrizole
Itrizole (TN)
Itrizole (tn)
LS-1843
MLS000028582
MLS000759472
MLS000863291
MLS001148245
MolPort-000-883-864
MolPort-003-848-295
NCGC00089812-03
Oriconazole
Oriconazole, R51211, Sporanox
Orungal
Prokanazol
R 51211
R-51211
S2476_Selleck
SAM001246679
SMR000058959
Sempera
Spherazole
Sporal
Sporanos
Sporanox
Sporanox (TN)
Sporanox (tn)
Sporonox
TL8005525
Triasporn
UNII-304NUG5GF4
cis-Itraconazole
itraconazole
45
Miconazoleapproved, investigational, vet_approvedPhase 1362422916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
46
BenzocaineapprovedPhase 118921994-09-7, 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
47tannic acidapproved, NutraceuticalPhase 11892
48HydroxyitraconazolePhase 1147
49Steroid Synthesis InhibitorsPhase 11718
50Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 112767

Interventional clinical trials:

(show top 50)    (show all 97)
idNameStatusNCT IDPhase
1Myobloc Atrophy StudyCompletedNCT02052024Phase 4
2A Trial of Hydroxyurea in Spinal Muscular AtrophyCompletedNCT00485511Phase 2, Phase 3
3Short and Long Term Treatment With 4-AP in Ambulatory SMA PatientsCompletedNCT01645787Phase 2, Phase 3
4Post-Poliosyndrome Treated With Intravenous Immunoglobulin (IvIg)CompletedNCT00231439Phase 2, Phase 3
5Valproate and Levocarnitine in Children With Spinal Muscular AtrophyRecruitingNCT01671384Phase 3
6Clinical Trial of a Serious Game for Individuals With SCI/DRecruitingNCT02341950Phase 3
7Study of the Efficacy and Safety of Immune Globulin Intravenous (Human) Flebogamma® 5% DIF in Patients With Post-polio SyndromeRecruitingNCT02176863Phase 2, Phase 3
8A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS)Active, not recruitingNCT00445172Phase 2, Phase 3
9An Open-Label Study (SHINE) for Patients With Spinal Muscular Atrophy (SMA) Who Participated in Studies With IONIS-SMNRxEnrolling by invitationNCT02594124Phase 3
10Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular DisordersTerminatedNCT00839033Phase 3
11A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy PatientsUnknown statusNCT00568802Phase 1, Phase 2
12Safety and Tolerability of Anakinra in Combination With Riluzol in Amyotrophic Lateral SclerosisUnknown statusNCT01277315Phase 2
13Transcranial Direct Current Stimulation as a Novel Therapeutic Approach in Amyotrophic Lateral SclerosisUnknown statusNCT01569958Phase 2
14A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy PatientsCompletedNCT00568698Phase 1, Phase 2
15CARNIVAL Type I: Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy (SMA) Type ICompletedNCT00661453Phase 1, Phase 2
16Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular AtrophyCompletedNCT00528268Phase 1, Phase 2
17Valproic Acid and Carnitine in Patients With Spinal Muscular AtrophyCompletedNCT00227266Phase 2
18Valproic Acid in Ambulant Adults With Spinal Muscular AtrophyCompletedNCT00481013Phase 2
19An Open-label Safety, Tolerability and Dose-range Finding Study of Multiple Doses of ISIS SMNRx in Patient With Spinal Muscular AtrophyCompletedNCT01703988Phase 1, Phase 2
20Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Years SMA Patients.CompletedNCT01302600Phase 2
21Effects of Power Mobility on Young Children With Severe Motor ImpairmentsCompletedNCT01028833Phase 2
22Effect of Functional Exercise in Patients With Spinal Bulbar Muscular AtrophyCompletedNCT01369901Phase 1, Phase 2
23Safety, Tolerability, and Efficacy of BVS857 in Patients With Spinal and Bulbar Muscular AtrophyCompletedNCT02024932Phase 2
24Allogeneic Adipose Derived Stem Cells for Werdnig Hoffman PatientsRecruitingNCT02855112Phase 1, Phase 2
25A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Infants With Type1 Spinal Muscular Atrophy (Firefish)RecruitingNCT02913482Phase 2
26A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Type 2 and 3 Spinal Muscular Atrophy Participants (Sunfish)RecruitingNCT02908685Phase 2
27SPACE Trial: Pyridostigmine vs Placebo in SMA Types 2, 3 and 4RecruitingNCT02941328Phase 2
28A Study of CK-2127107 in Patients With Spinal Muscular AtrophyRecruitingNCT02644668Phase 2
29Safety and Efficacy Study of Pyridostigmine on Patients With Spinal Muscular Atrophy Type 3RecruitingNCT02227823Phase 2
30A Study to Evaluate Long Term Safety, Tolerability, and Effectiveness of Olesoxime in Patients With Spinal Muscular AtrophyRecruitingNCT02628743Phase 2
31An Open Label Study of LMI070 in Type 1 Spinal Muscular Atrophy (SMA)Active, not recruitingNCT02268552Phase 1, Phase 2
32A Study to Assess the Safety and Tolerability of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA).Active, not recruitingNCT02462759Phase 2
33A Study to Assess the Efficacy, Safety and Pharmacokinetics of IONIS SMNRx in Infants With Spinal Muscular AtrophyActive, not recruitingNCT01839656Phase 2
34Effect of Low-Dose Celecoxib on SMN2 in Patients With Spinal Muscular AtrophyNot yet recruitingNCT02876094Phase 2
35Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Type ITerminatedNCT00439218Phase 1, Phase 2
36Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Types II or IIITerminatedNCT00439569Phase 1, Phase 2
37An Open-label Safety and Tolerability Study of ISIS SMNRx in Patients With Spinal Muscular Atrophy Who Previously Participated in ISIS 396443-CS1CompletedNCT01780246Phase 1
38An Open-label Safety, Tolerability, and Dose-range Finding Study of ISIS SMNRx in Patients With Spinal Muscular AtrophyCompletedNCT01494701Phase 1
39A Study to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of RO7034067 (RG7916) Given by Mouth in Healthy VolunteersCompletedNCT02633709Phase 1
40Study of Safety and Dosing Effect on SMN Levels of Valproic Acid (VPA) in Patients With Spinal Muscular AtrophyCompletedNCT00374075Phase 1
41Intrathecal Transplantation of Mesenchymal Stem Cell in Patients With ALSCompletedNCT01771640Phase 1
42Intravenous Transplantation of Mesenchymal Stem Cell in Patients With ALSCompletedNCT01759797Phase 1
43Combined Tactile and Proprioception Training After Spinal Cord InjuryRecruitingNCT02554058Phase 1
44Activity Dependent Rehabilitation Model to Improve Bone and Muscle OutcomesRecruitingNCT02309983Phase 1
45Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1Active, not recruitingNCT02122952Phase 1
46An Open-label Safety and Tolerability Study of IONIS SMNRx in Patients With Spinal Muscular Atrophy Who Previously Participated in IONIS SMNRx-CS2 or IONIS SMNRx-CS10Active, not recruitingNCT02052791Phase 1
47A Study of RO6885247 in Adult and Pediatric Patients With Spinal Muscular Atrophy (MOONFISH)TerminatedNCT02240355Phase 1
48Intraventricular Transplantation of Mesenchymal Stem Cell in Patients With ALSWithdrawnNCT01759784Phase 1
49Quantitative Analysis of SMN1 and SMN2 Gene Based on DHPLC SystemUnknown statusNCT00155168
50Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform.Unknown statusNCT00154960

Search NIH Clinical Center for Spinal Muscular Atrophy-1

Genetic Tests for Spinal Muscular Atrophy-1

About this section

Genetic tests related to Spinal Muscular Atrophy-1:

id Genetic test Affiliating Genes
1 Werdnig-Hoffmann Disease26

Anatomical Context for Spinal Muscular Atrophy-1

About this section

MalaCards organs/tissues related to Spinal Muscular Atrophy-1:

35
Spinal cord, Brain, Tongue, Liver, Skeletal muscle, Bone

Animal Models for Spinal Muscular Atrophy-1 or affiliated genes

About this section

Publications for Spinal Muscular Atrophy-1

About this section

Articles related to Spinal Muscular Atrophy-1:

idTitleAuthorsYear
1
Spinal muscular atrophy-1 and gastrostomy. (25041302)
2014

Variations for Spinal Muscular Atrophy-1

About this section

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy-1:

69
id Symbol AA change Variation ID SNP ID
1SMN1p.Tyr272CysVAR_005617rs104893922
2SMN1p.Gly279ValVAR_005620rs76163360
3SMN1p.Ile116PheVAR_034807rs104893933
4SMN1p.Gln136GluVAR_034808rs104893934

Clinvar genetic disease variations for Spinal Muscular Atrophy-1:

5 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1IGHMBP2NM_002180.2(IGHMBP2): c.1540G> A (p.Glu514Lys)SNVPathogenicrs137852665GRCh37Chr 11, 68701934: 68701934
2IGHMBP2NM_002180.2(IGHMBP2): c.638A> G (p.His213Arg)SNVPathogenicrs137852666GRCh37Chr 11, 68678998: 68678998
3IGHMBP2NM_002180.2(IGHMBP2): c.1738G> A (p.Val580Ile)SNVPathogenicrs137852667GRCh37Chr 11, 68702872: 68702872
4IGHMBP2NM_002180.2(IGHMBP2): c.121C> T (p.Gln41Ter)SNVPathogenicrs137852668GRCh37Chr 11, 68673571: 68673571
5IGHMBP2NM_002180.2(IGHMBP2): c.675delT (p.Glu226Argfs)deletionPathogenicrs786205089GRCh38Chr 11, 68911567: 68911567
6IGHMBP2NM_002180.2(IGHMBP2): c.707T> G (p.Leu236Ter)SNVPathogenicrs137852669GRCh37Chr 11, 68679067: 68679067
7IGHMBP2NM_002180.2(IGHMBP2): c.2611+1G> TSNVPathogenicrs786205090GRCh38Chr 11, 68937092: 68937092
8IGHMBP2NM_002180.2(IGHMBP2): c.1107C> G (p.Phe369Leu)SNVPathogenicrs137852670GRCh37Chr 11, 68696697: 68696697
9IGHMBP2NG_007976.1: g.(7904_7936)_(26407_26439)deldeletionPathogenicGRCh38Chr 11, 68906754: 68925289
10SMN1SMN1, 11-BP DUP, 801-811duplicationPathogenicChr na, -1: -1
11SMN1NM_000344.3(SMN1): c.815A> G (p.Tyr272Cys)SNVPathogenicrs104893922GRCh37Chr 5, 70241984: 70241984
12SMN1NM_000344.3(SMN1): c.836G> T (p.Gly279Val)SNVPathogenicrs76163360GRCh37Chr 5, 70247769: 70247769
13SMN1SMN1, 5-BP DEL, 425deletionPathogenicChr na, -1: -1
14SMN1SMN1, 4-BP DEL, 399AGAGdeletionPathogenicChr na, -1: -1
15SMN1NM_000344.3(SMN1): c.332C> G (p.Ala111Gly)SNVPathogenicrs104893935GRCh37Chr 5, 70238243: 70238243
16SMN1NM_000344.3(SMN1): c.346A> T (p.Ile116Phe)SNVPathogenicrs104893933GRCh37Chr 5, 70238257: 70238257
17SMN1NM_000344.3(SMN1): c.406C> G (p.Gln136Glu)SNVPathogenicrs104893934GRCh37Chr 5, 70238317: 70238317

Expression for genes affiliated with Spinal Muscular Atrophy-1

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Search GEO for disease gene expression data for Spinal Muscular Atrophy-1.

Pathways for genes affiliated with Spinal Muscular Atrophy-1

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Pathways related to Spinal Muscular Atrophy-1 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.5COX14, SCO2

GO Terms for genes affiliated with Spinal Muscular Atrophy-1

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Cellular components related to Spinal Muscular Atrophy-1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1SMN-Sm protein complexGO:003471910.1SMN1, SMN2
2cytoplasmic ribonucleoprotein granuleGO:00364649.9SMN1, SMN2
3Gemini of coiled bodiesGO:00975049.2SMN1, SMN2, ZPR1
4Cajal bodyGO:00150309.2SMN1, SMN2, ZPR1
5SMN complexGO:00327978.9IGHMBP2, SMN1, SMN2, ZPR1
6neuron projectionGO:00430058.9NAIP, SMN1, SMN2, SYP
7perikaryonGO:00432048.6NAIP, SMN1, SMN2, ZPR1

Biological processes related to Spinal Muscular Atrophy-1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1DNA-templated transcription, terminationGO:000635310.4SMN1, SMN2
2spliceosomal snRNP assemblyGO:000038710.2SMN1, SMN2
3nuclear importGO:005117010.2SMN1, SMN2
4spliceosomal complex assemblyGO:000024510.2SMN1, SMN2
5nervous system developmentGO:00073998.9FKTN, NAIP, SMN1, SMN2

Sources for Spinal Muscular Atrophy-1

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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