MCID: SPN046
MIFTS: 63

Spinal Muscular Atrophy malady

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

Aliases & Classifications for Spinal Muscular Atrophy

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Aliases & Descriptions for Spinal Muscular Atrophy:

Name: Spinal Muscular Atrophy 34 11 70 23 47 24 25 48 26 37 13 67
Hereditary Motor Neuronopathy 25 67
Progressive Muscular Atrophy 25 67
Sma 24 25
Juvenile Spinal Muscular Atrophy 67
Kugelberg-Welander Disease 24
 
Muscular Atrophy, Spinal 38
Werdnig-Hoffmann Disease 24
Muscular Atrophy Spinal 49
Hmn Proximal Type I 67
Spinal Amyotrophy 25
Smn 24

Classifications:



External Ids:

Disease Ontology11 DOID:12377
ICD1029 G12.9
ICD9CM31 335.1, 335.10
MeSH38 D009134
NCIt44 C85075

Summaries for Spinal Muscular Atrophy

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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, also known as hereditary motor neuronopathy, is related to spinal muscular atrophy-4 and spinal muscular atrophy-3, and has symptoms including back pain, back pain and headache. An important gene associated with Spinal Muscular Atrophy is SMN1 (Survival Of Motor Neuron 1, Telomeric), and among its related pathways is RNA transport. Affiliated tissues include spinal cord, testes and brain, and related mouse phenotype muscle.

Disease Ontology:11 A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.

Genetics Home Reference:25 Spinal muscular atrophy is a genetic disorder that affects the control of muscle movement. It is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). The loss of motor neurons leads to weakness and wasting (atrophy) of muscles used for activities such as crawling, walking, sitting up, and controlling head movement. In severe cases of spinal muscular atrophy, the muscles used for breathing and swallowing are affected. There are many types of spinal muscular atrophy distinguished by the pattern of features, severity of muscle weakness, and age when the muscle problems begin.

MedlinePlus:37 Spinal muscular atrophy (sma) is a genetic disease that attacks nerve cells, called motor neurons, in the spinal cord. these cells communicate with your voluntary muscles - the ones you can control, like in your arms and legs. as the neurons die, the muscles weaken. this can affect walking, crawling, breathing, swallowing, and head and neck control. sma runs in families. parents usually have no symptoms, but still carry the gene. genetic counseling is important if the disease runs in your family. there are many types of sma. some of them are fatal. some people have a normal life expectancy. it depends on the type and how it affects breathing. there is no cure. treatments help with symptoms and prevent complications. they may include machines to help with breathing, nutritional support, physical therapy, and medicines. nih: national institute of neurological disorders and stroke

Wikipedia:70 Spinal muscular atrophy (SMA), also called autosomal recessive proximal spinal muscular atrophy in order... more...

GeneReviews for NBK1352

Related Diseases for Spinal Muscular Atrophy

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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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 155)
idRelated DiseaseScoreTop Affiliating Genes
1spinal muscular atrophy-434.2NAIP, SMN1, SMN2
2spinal muscular atrophy-334.2NAIP, SMN1, SMN2
3spinal muscular atrophy-233.7IGHMBP2, NAIP, SMN1, SMN2, ZPR1
4exudative vitreoretinopathy30.4SMN1, SMN2, VAPB
5scapuloperoneal spinal muscular atrophy12.5
6spinal muscular atrophy, x-linked 2, infantile12.5
7spinal muscular atrophy, lower extremity-predominant, 2, ad12.5
8spinal muscular atrophy, lower extremity-predominant 1, ad12.5
9spinal muscular atrophy, late-onset, finkel type12.5
10spinal muscular atrophy with progressive myoclonic epilepsy12.5
11spinal muscular atrophy, distal, autosomal recessive, 412.4
12spinal muscular atrophy, distal, x-linked 312.4
13spinal muscular atrophy, distal, autosomal recessive, 512.4
14spinal muscular atrophy, distal, autosomal recessive, 212.4
15spinal muscular atrophy, jokela type12.4
16survival motor neuron spinal muscular atrophy12.4
17spinal muscular atrophy, distal, autosomal recessive, 312.4
18proximal spinal muscular atrophy12.4
19spinal muscular atrophy, distal, congenital nonprogressive12.3
20spinal muscular atrophy type 1 with congenital bone fractures12.2
21spinal muscular atrophy with respiratory distress type 212.2
22neuronopathy, distal hereditary motor, type vi12.2
23autosomal dominant childhood-onset proximal spinal muscular atrophy12.2
24spinal muscular atrophy-112.1
25spinal muscular atrophy-dandy-walker malformation-cataracts syndrome12.1
26spinal muscular atrophy, lower extremity, autosomal dominant12.1
27adult progressive spinal muscular atrophy aran duchenne type12.0
28spinal muscular atrophy ryukyuan type12.0
29distal spinal muscular atrophy 412.0
30arthrogryposis spinal muscular atrophy12.0
31congenital benign spinal muscular atrophy dominant12.0
32neuronopathy, distal hereditary motor, type i11.8
33amyotrophy, monomelic11.7
34distal hereditary motor neuropathy type v11.6
35pontocerebellar hypoplasia type 1a11.6
36spinal and bulbar muscular atrophy of kennedy11.6
37motor neuron disease11.5
38distal hereditary motor neuropathy, type ii11.4
39progressive muscular atrophy11.3
40spinal atrophy ophthalmoplegia pyramidal syndrome11.3
41distal hereditary motor neuropathy type 711.3
42neuropathy, distal hereditary motor, type va11.3
43muscular atrophy11.2
44neuromuscular disease11.2
45distal hereditary motor neuropathy11.2
46neuronopathy, distal hereditary motor, type vb11.1
47neuronopathy, distal hereditary motor, type viia11.0
48neuronopathy, distal hereditary motor, type iid11.0
49neuropathy, distal hereditary motor, type iia11.0
50pontocerebellar hypoplasia type 111.0

Comorbidity relations with Spinal Muscular Atrophy via Phenotypic Disease Network (PDN):


Acute Cystitis

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



Diseases related to spinal muscular atrophy

Symptoms for Spinal Muscular Atrophy

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UMLS symptoms related to Spinal Muscular Atrophy:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, hyperexplexia, vertigo/dizziness, sleeplessness, muscle cramp

Drugs & Therapeutics for Spinal Muscular Atrophy

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

(show top 50)    (show all 108)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
GoserelinapprovedPhase 422965807-02-547725, 5311128
Synonyms:
(2S)-N-[(2S)-1-[[(2S)-1-[[(2S)-1-[[(2S)-1-[[(2R)-1-[[(2S)-1-[[(2S)-1-[(2S)-2-[(carbamoylamino)carbamoyl]pyrrolidin-1-yl]-5-(diaminomethylideneamino)-1-oxopentan-2-yl]amino]-4-methyl-1-oxopentan-2-yl]amino]-3-[(2-methylpropan-2-yl)oxy]-1-oxopropan-2-yl]amino]-3-(4-hydroxyphenyl)-1-oxopropan-2-yl]amino]-3-hydroxy-1-oxopropan-2-yl]amino]-3-(1H-indol-3-yl)-1-oxopropan-2-yl]amino]-3-(1H-imidazol-5-yl)-1-oxopropan-2-yl]-5-oxopyrrolidine-2-carboxamide
AC1NSK1T
CID5311128
Goserelin
Goserelin acetate
 
HMS2089D16
HS-2015
ICI-118630
MolPort-006-823-831
ZD-9393
Zoladex
goserelin
2
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
3onabotulinumtoxinAPhase 4626
4Peripheral Nervous System AgentsPhase 4, Phase 2, Early Phase 122776
5rimabotulinumtoxinBPhase 417
6Neurotransmitter AgentsPhase 4, Phase 2, Phase 3, Phase 117734
7Antineoplastic Agents, HormonalPhase 4, Phase 25407
8Neuromuscular AgentsPhase 41129
9abobotulinumtoxinAPhase 4626
10Botulinum Toxins, Type APhase 4630
11Botulinum ToxinsPhase 4669
12incobotulinumtoxinAPhase 4635
13Cholinergic AgentsPhase 4, Phase 23846
14
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
15
Valproic Acidapproved, investigationalPhase 3, Phase 2, Phase 132299-66-13121
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
16
Riluzoleapproved, investigationalPhase 2, Phase 3631744-22-55070
Synonyms:
1744-22-5
2-Amino-6-(trifluoromethoxy)-benzothiazole
2-Amino-6-(trifluoromethoxy)benzothiazole
2-Amino-6-trifluoro- methoxybenzothiazole
2-amino-6-(trifluoromethoxy)-1,3-benzothiazole
2-amino-6-(trifluoromethoxy)benzo[d]thiazole
2-amino-6-(trifluoromethoxyl)benzothiazole
2-amino-6-trifluoromethoxybenzothiazole
6-(trifluoromethoxy)-1,3-benzothiazol-2-amine
6-(trifluoromethoxy)benzo[d]thiazol-2-amine
6-Trifluoromethoxy-benzothiazol-2-ylamine
6-trifluoromethoxybenzothiazole-2-yl-amine
AC-730
AC1L1JJL
AC1Q530H
AKOS000265071
ALBB-006046
Amino-2 trifluoromethoxy-6 benzothiazole
Amino-2 trifluoromethoxy-6 benzothiazole [French]
BB_SC-4839
BF-37
BIDD:GT0055
BPBio1_000037
BPBio1_000837
BRD-K21283037-001-02-5
BRD-K21283037-003-03-9
BSPBio_000033
Bio1_000416
Bio1_000905
Bio1_001394
Biomol-NT_000245
C07937
C8H5F3N2OS
CHEMBL744
CID5070
D00775
DB00740
EU-0101064
FT-0082997
HMS1773G08
HMS2089O19
HMS2094G07
I01-2084
LS-40688
 
Lopac-R-116
Lopac0_001064
MLS000069369
MolPort-000-151-262
NCGC00015882-01
NCGC00015882-02
NCGC00015882-03
NCGC00015882-07
NCGC00015882-11
NCGC00023141-02
NCGC00023141-04
NCGC00023141-05
NCGC00023141-06
PK-26124
PK-26124, RP-54274, Rilutek, Riluzole
Prestwick-03A08
Prestwick0_000167
Prestwick1_000167
Prestwick2_000167
Prestwick3_000167
R-116
R116_SIGMA
RP 54274
RP-54274
Rilutek
Rilutek (TN)
Riluzol
Riluzol [INN-Spanish]
Riluzole
Riluzole (JAN/USAN/INN)
Riluzole HCl
Riluzole [USAN:INN]
Riluzolum
Riluzolum [INN-Latin]
S1614_Selleck
SMR000058231
SPBio_000599
SPBio_001954
STK503686
Spectrum2_000550
Tocris-0768
UNII-7LJ087RS6F
ZERO/001785
ZINC00006481
riluzole
17
HydroxocobalaminapprovedPhase 2, Phase 324813422-51-011953898, 5460373, 44475014
Synonyms:
13422-51-0
22465-48-1
78091-12-0
8017-22-9
Acti-B12
AlphaRedisol
AlphaRedisol (TN)
Axion
Axlon
Benzimidazolyl ribofuranosyl phosphate deriv.
C08230
C62H85CoN13O15P
CHEBI:27786
CHEMBL1200742
CHEMBL235822
CID11622291
CID11953898
CID5460373
CID6433575
CID6474319
Ciplamin H
Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-Cobeta-hydroxocobamide
Cobalex
Cobalin H
Cobinamide dihydroxide dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosylbenzimidazole inner salt
Cobinamide, Co-hydroxy-, dihydrogen phosphate (ester), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, Co-hydroxy-, f-(dihydrogen phosphate), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono (inner salt), 3'- ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Cobinamide, hydroxide, dihydrogen phosphate (ester), inner salt, 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Codroxomin
Cyanokit
Cyanokit (TN)
D01027
DB00200
Depogamma
Docclan
Docelan
Docelvita
Docevita
Droxomin
Ducobee Hy
Ducobee-Hy
Duradoce
Duralta-12
EINECS 236-533-2
HSDB 3342
HYDROXOCOBALAMIN
Hidroxocobalamina
Hidroxocobalamina [INN-Spanish]
Hydro Cobex
 
Hydrobamine
Hydrocobalamin
Hydrogrisevit
Hydrovit
Hydroxocobalamin
Hydroxocobalamin (JAN/USP/INN)
Hydroxocobalamin Vitamin B12
Hydroxocobalamin [USAN:INN:BAN:JAN]
Hydroxocobalamin acetate
Hydroxocobalamin anhydrous
Hydroxocobalamin monohydrochloride
Hydroxocobalamin(alkaline soln.), OH- replaces CN- in Cyanocobalamin)
Hydroxocobalaminacetat
Hydroxocobalamine
Hydroxocobalamine [INN-French]
Hydroxocobalaminum
Hydroxocobalaminum [INN-Latin]
Hydroxocobalaminum anhydrous
Hydroxocobemine
Hydroxomin
Hydroxy Cobal
Hydroxy vitamin B12
Hydroxycob(lll)alamin
Hydroxycobalamin
Hydroxycobalamine
Hyxobamine
Idrogrisevit
Idrossocobalamina
Idrossocobalamina [DCIT]
LS-54607
Lyovit-H
Neo-Betalin 12
Neo-cytamen
Neo-macrabin
Neo-rojamin
OH-Cbl
OH-Duphar
Ohb12
Oxobemin
Oxolamine (arcum)
Primabalt RP
Redisol-H
S1668_Selleck
Sytobex-H
UNII-Q40X8H422O
Vibeden
Vitadurin
Vitamin B(sub 12a)
Vitamin B-12b
Vitamin B12a
Vitamin B12b
a-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
alpha Cobione
alpha-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
vitamin B-12b
18PiracetamapprovedPhase 3, Phase 21707491-74-9
19
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
20
Modafinilapproved, investigationalPhase 319568693-11-84236
Synonyms:
Dea No. 1680
Modafinil
Modafinil [USAN:INN]
Modafinil [Usan:Inn]
Modafinilo
Modafinilo [Spanish]
 
Modafinilum
Modafinilum [Latin]
Moderateafinil
Modiodal
Provigil
Sparlon
modafinil
21
Armodafinilapproved, investigationalPhase 3195112111-43-0
Synonyms:
 
(–)-2-[(R)-(diphenylmethyl)sulfinyl]acetamide
R-modafinil
22
Cyanocobalaminapproved, nutraceuticalPhase 2, Phase 324968-19-944176380
Synonyms:
Anacobin
Bedoz
Berocca PN
Berubigen
Betalin 12
Betalin 12 Crystalline
Betaline-12
Betolvex
Bevidox
Bevidox concentrate
Biocobalamine
Byladoce
Cabadon m
Cernevit-12
Cobadoce forte
Cobalin
Cobavite
Cobex
Cobolin-M
Copharvit 5000
Covit
Crystamin
Crystamine
Crysti-12
Crystimin
Crystwel
Cyano-B12
Cyanobalamin concentrate
Cyanocob(III)alamin
Cyanocobalamin (JP15/USP)
Cyanocobalamin Co 57 Schilling Test Kit
Cyanocobalamine
Cyanocobalmin
Cyanoject
Cycobemin
Cycolamin
Cykobemin
Cykobeminet
Cyomin
Cyredin
Cytacon
Cytamen
Cytobion
Depinar
Dicopac
Dicopac Kit
Dimethylbenzimidazoylcobamide
Distivit
Docemine
Docibin
Docivit
Dodecabee
Dodecavite
Dodex
Duodecibin
Embiol
Emociclina
Eritrone
Erycytol
 
Erythrotin
Euhaemon
Extrinsic factor
Factor II
Fermin
Fresmin
Hemomin
Hepagon
Hepavis
Hepcovite
Hylugel plus
Infuvite Pediatric
Lactobacillus lactis dorner factor
M.V.I. Pediatric
Macrabin
Megabion
Megalovel
Milbedoce
Millevit
Nagravon
Nascobal
Nascobal (TN)
Neuroforte-R
Normocytin
Novidroxin
Pernaemon
Pernaevit
Pernipuron
Plecyamin
Poyamin
Primabalt
Rebramin
Redamina
Redisol
Rhodacryst
Rubesol
Rubivite
Rubramin
Rubramin PC
Rubratope-57 Kit
Rubratope-60 Kit
Rubripca
Rubrocitol
Ruvite
Shovite
Sytobex
Vi-Twel
Vibal
Vibalt
Vibisone
Virubra
Vita-rubra
Vitabee 12
Vitamin B12
Vitamin B12 Preparation
Vitamin B12 complex
Vitaped
Vitarubin
Vitral
vitamine b12
23
Folic Acidapproved, nutraceutical, vet_approvedPhase 2, Phase 3427959-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
24Nucleic Acid Synthesis InhibitorsPhase 2, Phase 3, Phase 14855
25Pharmaceutical SolutionsPhase 3, Phase 2, Phase 1, Early Phase 17793
26Rho(D) Immune GlobulinPhase 2, Phase 3317
27ImmunoglobulinsPhase 2, Phase 36045
28gamma-GlobulinsPhase 2, Phase 3317
29Immunoglobulins, IntravenousPhase 2, Phase 3324
30Tranquilizing AgentsPhase 3, Phase 2, Phase 14164
31GABA AgentsPhase 3, Phase 2, Phase 11622
32Psychotropic DrugsPhase 3, Phase 2, Phase 16279
33AntibodiesPhase 2, Phase 36045
34Central Nervous System DepressantsPhase 3, Phase 2, Phase 112806
35Antimanic AgentsPhase 3, Phase 2, Phase 1790
36Vitamin B ComplexPhase 2, Phase 34229
37AnticonvulsantsPhase 2, Phase 3, Phase 12620
38Potassium Channel BlockersPhase 2, Phase 3176
39Protective AgentsPhase 2, Phase 37190
40Neuroprotective AgentsPhase 2, Phase 31672
41Excitatory Amino AcidsPhase 2, Phase 31297
42MicronutrientsPhase 2, Phase 35802
43Trace ElementsPhase 2, Phase 35802
44VitaminsPhase 2, Phase 35095
45Excitatory Amino Acid AntagonistsPhase 2, Phase 31282
46Vitamin B 12Phase 2, Phase 3249
47Central Nervous System StimulantsPhase 32132
48Cytochrome P-450 CYP3A InducersPhase 31101
49Wakefulness-Promoting AgentsPhase 3192
50
CobalaminNutraceuticalPhase 2, Phase 324913408-78-16438156
Synonyms:
5,6-Dimethyl-1-a-D-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-a-D-ribofuranosylbenzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosylbenzimidazole
Cob(III)alamin
Cobalamin (III)
Cobalamine
 
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
Hydroxomin
Rubivite
Rubratope-57
Rubratope-60
Ruvite
Vitamin B12

Interventional clinical trials:

(show top 50)    (show all 159)
idNameStatusNCT IDPhase
1Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular AtrophyCompletedNCT00851461Phase 4
2Myobloc Atrophy StudyCompletedNCT02052024Phase 4
3Different Efficacy Between Rehabilitation Therapy and Stem Cells Transplantation in Patients With SCI in ChinaUnknown statusNCT01873547Phase 3
4A Trial of Hydroxyurea in Spinal Muscular AtrophyCompletedNCT00485511Phase 2, Phase 3
5Short and Long Term Treatment With 4-AP in Ambulatory SMA PatientsCompletedNCT01645787Phase 2, Phase 3
6Study to Evaluate the Efficacy of Riluzole in Children and Young Adults With Spinal Muscular Atrophy (SMA)CompletedNCT00774423Phase 2, Phase 3
7A Study in Patients With Amyotrophic Lateral Sclerosis (ALS)CompletedNCT00444613Phase 2, Phase 3
8Post-Poliosyndrome Treated With Intravenous Immunoglobulin (IvIg)CompletedNCT00231439Phase 2, Phase 3
9Intravenous Immunoglobulins for Post-Polio SyndromeCompletedNCT01537575Phase 3
10Valproate and Levocarnitine in Children With Spinal Muscular AtrophyRecruitingNCT01671384Phase 3
11Clinical Trial of a Serious Game for Individuals With SCI/DRecruitingNCT02341950Phase 3
12L-Citrulline in Patients With Post-Polio SyndromeRecruitingNCT02801071Phase 3
13Study of the Efficacy and Safety of Immune Globulin Intravenous (Human) Flebogamma® 5% DIF in Patients With Post-polio SyndromeRecruitingNCT02176863Phase 2, Phase 3
14A Study to Assess the Efficacy and Safety of IONIS-SMN Rx in Infants With Spinal Muscular AtrophyActive, not recruitingNCT02193074Phase 3
15A Study to Assess the Efficacy and Safety of IONIS-SMN Rx in Patients With Later-onset Spinal Muscular AtrophyActive, not recruitingNCT02292537Phase 3
16A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS)Active, not recruitingNCT00445172Phase 2, Phase 3
17An Open-Label Study (SHINE) for Patients With Spinal Muscular Atrophy (SMA) Who Participated in Studies With IONIS-SMNRxEnrolling by invitationNCT02594124Phase 3
18Modafinil to Treat Fatigue in Post-Polio SyndromeTerminatedNCT00067496Phase 3
19Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular DisordersTerminatedNCT00839033Phase 3
20A Randomized, Double Blind, Placebo Controlled Trial L-carnitine and Piracetam in the Treatment of Weakness, Muscle Fatigue and Muscle Pain in the Postpoliomyelitis SyndromeWithdrawnNCT01549847Phase 3
21A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy PatientsUnknown statusNCT00568802Phase 1, Phase 2
22Safety and Tolerability of Anakinra in Combination With Riluzol in Amyotrophic Lateral SclerosisUnknown statusNCT01277315Phase 2
23Difference Between Rehabilitation Therapy and Stem Cells Transplantation in Patients With Spinal Cord Injury in ChinaUnknown statusNCT01393977Phase 2
24Transcranial Direct Current Stimulation as a Novel Therapeutic Approach in Amyotrophic Lateral SclerosisUnknown statusNCT01569958Phase 2
25A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy PatientsCompletedNCT00568698Phase 1, Phase 2
26Valproic Acid and Carnitine in Patients With Spinal Muscular AtrophyCompletedNCT00227266Phase 2
27Valproic Acid in Ambulant Adults With Spinal Muscular AtrophyCompletedNCT00481013Phase 2
28Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular AtrophyCompletedNCT00528268Phase 1, Phase 2
29CARNIVAL Type I: Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy (SMA) Type ICompletedNCT00661453Phase 1, Phase 2
30An Open-label Safety, Tolerability and Dose-range Finding Study of Multiple Doses of ISIS SMNRx in Patient With Spinal Muscular AtrophyCompletedNCT01703988Phase 1, Phase 2
31Pilot Study of Growth Hormon to Treat SMA Typ II and IIICompletedNCT00533221Phase 2
32Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Years SMA Patients.CompletedNCT01302600Phase 2
33Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron DiseaseCompletedNCT00004771Phase 2
34Levetiracetam for Cramps, Spasticity and Neuroprotection in Motor Neuron DiseaseCompletedNCT00324454Phase 2
35Effects of Power Mobility on Young Children With Severe Motor ImpairmentsCompletedNCT01028833Phase 2
36Safety, Tolerability, and Efficacy of BVS857 in Patients With Spinal and Bulbar Muscular AtrophyCompletedNCT02024932Phase 2
37Dutasteride to Treat Spinal and Bulbar Muscular Atrophy (SBMA)CompletedNCT00303446Phase 2
38Effect of Functional Exercise in Patients With Spinal Bulbar Muscular AtrophyCompletedNCT01369901Phase 1, Phase 2
39A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Infants With Type1 Spinal Muscular Atrophy (Firefish)RecruitingNCT02913482Phase 2
40A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Type 2 and 3 Spinal Muscular Atrophy Participants (Sunfish)RecruitingNCT02908685Phase 2
41A Study of CK-2127107 in Patients With Spinal Muscular AtrophyRecruitingNCT02644668Phase 2
42A Study of Multiple Doses of Nusinersen (ISIS 396443) Delivered to Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular AtrophyRecruitingNCT02386553Phase 2
43Safety and Efficacy Study of Pyridostigmine on Patients With Spinal Muscular Atrophy Type 3RecruitingNCT02227823Phase 2
44A Study to Evaluate Long Term Safety, Tolerability, and Effectiveness of Olesoxime in Patients With Spinal Muscular AtrophyRecruitingNCT02628743Phase 2
45SPACE Trial: Pyridostigmine vs Placebo in SMA Types 2, 3 and 4RecruitingNCT02941328Phase 2
46Allogeneic Adipose Derived Stem Cells for Werdnig Hoffman PatientsRecruitingNCT02855112Phase 1, Phase 2
47Comparing Functional Outcomes in Individuals Using Micro-processor Controlled Orthosis Versus Stance Control OrthosisRecruitingNCT02089880Phase 2
48An Open Label Study of LMI070 in Type 1 Spinal Muscular Atrophy (SMA)Active, not recruitingNCT02268552Phase 1, Phase 2
49A Study to Assess the Efficacy, Safety and Pharmacokinetics of IONIS SMNRx in Infants With Spinal Muscular AtrophyActive, not recruitingNCT01839656Phase 2
50A Study to Assess the Safety and Tolerability of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA).Active, not recruitingNCT02462759Phase 2

Search NIH Clinical Center for Spinal Muscular Atrophy

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Spinal Muscular Atrophy cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Spinal Muscular Atrophy:
MotorGraft
Embryonic/Adult Cultured Cells Related to Spinal Muscular Atrophy:
Motor neuron progenitor cells


Cochrane evidence based reviews: muscular atrophy, spinal

Genetic Tests for Spinal Muscular Atrophy

About this section

Genetic tests related to Spinal Muscular Atrophy:

id Genetic test Affiliating Genes
1 Spinal Muscular Atrophy26 24 SMN2
2 Spinal Muscular Atrophy (smn1)24 SMN1
3 Spinal Muscular Atrophy (smn2)24 SMN2

Anatomical Context for Spinal Muscular Atrophy

About this section

MalaCards organs/tissues related to Spinal Muscular Atrophy:

35
Spinal cord, Testes, Brain, Skeletal muscle, Bone, Liver, Heart

Animal Models for Spinal Muscular Atrophy or affiliated genes

About this section

MGI Mouse Phenotypes related to Spinal Muscular Atrophy:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1AR, ATP7A, DYNC1H1, IGHMBP2, PLEKHG5, SMN2

Publications for Spinal Muscular Atrophy

About this section

Articles related to Spinal Muscular Atrophy:

(show top 50)    (show all 1078)
idTitleAuthorsYear
1
1st Italian SMA Family Association Consensus Meeting:: Management and recommendations for respiratory involvement in spinal muscular atrophy (SMA) types I-III, Rome, Italy, 30-31 January 2015. (26453142)
2015
2
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1. (25847462)
2015
3
Coexistence of type 1 diabetes mellitus and spinal muscular atrophy in an 8-year-old girl: a case report. (25669159)
2015
4
Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene. (26665550)
2015
5
A novel evaluation method of survival motor neuron protein as a biomarker of spinal muscular atrophy by imaging flow cytometry. (25264200)
2014
6
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. (24989451)
2014
7
Neurotransmitter release in motor nerve terminals of a mouse model of mild spinal muscular atrophy. (23489475)
2014
8
Subtle mutation detection of SMN1 gene in Chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for SMN1 gene mutations. (25014214)
2014
9
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. (24207122)
2013
10
Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. (24162038)
2013
11
Enhancement of SMN protein levels in a mouse model of spinal muscular atrophy using novel drug-like compounds. (23740718)
2013
12
Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene. (23518311)
2013
13
SMN-inducing compounds for the treatment of spinal muscular atrophy. (23157239)
2012
14
Stress and coping in parents of children and adolescents with spinal muscular atrophy. (22504774)
2012
15
Spinal muscular atrophy pathogenic mutations impair the axonogenic properties of axonal-survival of motor neuron. (22324632)
2012
16
Spinal muscular atrophy: the role of SMN in axonal mRNA regulation. (22330725)
2012
17
Tracheotomy and children with spinal muscular atrophy type 1: ethical considerations in the French context. (22323397)
2012
18
Impaired mandibular function in spinal muscular atrophy type II: need for early recognition. (21596705)
2011
19
Detection of spinal muscular atrophy carriers in a sample of the Brazilian population. (21335981)
2011
20
SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy. (21754985)
2011
21
Utility of survival motor neuron ELISA for spinal muscular atrophy clinical and preclinical analyses. (21904622)
2011
22
Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice. (21693563)
2011
23
Contractures of the upper extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection. (21057148)
2010
24
SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy. (20097677)
2010
25
Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32. (20697106)
2010
26
Universal multiplex PCR and CE for quantification of SMN1/SMN2 genes in spinal muscular atrophy. (19373809)
2009
27
Malignant ventricular arrhythmia in a case of adult onset of spinal muscular atrophy (Kugelberg-Welander disease). (19175839)
2009
28
Special considerations in the respiratory management of spinal muscular atrophy. (19420154)
2009
29
Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature. (18266240)
2008
30
Rare missense and synonymous variants in UBE1 are associated with X- linked infantile spinal muscular atrophy. (18179898)
2008
31
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. (18440926)
2008
32
Spinal muscular atrophy diagnostics. (17761649)
2007
33
A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy. (18006961)
2007
34
Spinal muscular atrophy and therapeutic prospects. (17076267)
2006
35
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. (16508748)
2006
36
Spinal muscular atrophy carrier screening by multiplex polymerase chain reaction using dried blood spot on filter paper. (15720302)
2005
37
Quantitative analysis of SMN gene copies in spinal muscular atrophy]. (15079799)
2004
38
Analysis of the survival motor neuron and neuronal apoptosis inhibitory protein genes in Malay patients with Spinal Muscular Atrophy. (15779584)
2004
39
Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). (15248100)
2004
40
Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity. (12242541)
2002
41
Spinal muscular atrophy of childhood at the edge of the centuries. (11996521)
2001
42
The relationship between SMN, the spinal muscular atrophy protein, and nuclear coiled bodies in differentiated tissues and cultured cells. (10772809)
2000
43
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. (10339583)
1999
44
No evidence of association between apolipoprotein E genotype and phenotypic severity in childhood onset proximal spinal muscular atrophy. (10545039)
1999
45
Different molecular basis for spinal muscular atrophy in South African black patients. (10508982)
1999
46
Axonal neuropathy and predominance of type II myofibers in infantile spinal muscular atrophy. (9701481)
1998
47
Gene deletions in spinal muscular atrophy. (8929942)
1996
48
Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: primary or secondary defect(s)? (7748356)
1995
49
Guanidine hydrochloride in infantile and juvenile spinal muscular atrophy. A double blind controlled study. (7027754)
1980
50
Histological and histochemical changes in skeletal muscle from cases of chronic juvenile and early adult spinal muscular atrophy (the Kugelberg-Welander syndrome). (4250701)
1971

Variations for Spinal Muscular Atrophy

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Clinvar genetic disease variations for Spinal Muscular Atrophy:

5 (show all 29)
id Gene Variation Type Significance SNP ID Assembly Location
1SMN1NM_000344.3(SMN1): c.389A> G (p.Tyr130Cys)SNVPathogenicrs397514517GRCh37Chr 5, 70238300: 70238300
2SMN1NM_000344.3(SMN1): c.388T> C (p.Tyr130His)SNVPathogenicrs397514518GRCh37Chr 5, 70238299: 70238299
3SMN1SMN1, DELdeletionPathogenicChr na, -1: -1
4IGHMBP2NM_002180.2(IGHMBP2): c.1540G> A (p.Glu514Lys)SNVPathogenicrs137852665GRCh37Chr 11, 68701934: 68701934
5IGHMBP2NM_002180.2(IGHMBP2): c.638A> G (p.His213Arg)SNVPathogenicrs137852666GRCh37Chr 11, 68678998: 68678998
6IGHMBP2NM_002180.2(IGHMBP2): c.1738G> A (p.Val580Ile)SNVPathogenicrs137852667GRCh37Chr 11, 68702872: 68702872
7IGHMBP2NM_002180.2(IGHMBP2): c.121C> T (p.Gln41Ter)SNVPathogenicrs137852668GRCh37Chr 11, 68673571: 68673571
8IGHMBP2NM_002180.2(IGHMBP2): c.675delT (p.Glu226Argfs)deletionPathogenicrs786205089GRCh38Chr 11, 68911567: 68911567
9IGHMBP2NM_002180.2(IGHMBP2): c.707T> G (p.Leu236Ter)SNVPathogenicrs137852669GRCh37Chr 11, 68679067: 68679067
10IGHMBP2NM_002180.2(IGHMBP2): c.2611+1G> TSNVPathogenicrs786205090GRCh38Chr 11, 68937092: 68937092
11IGHMBP2NM_002180.2(IGHMBP2): c.1107C> G (p.Phe369Leu)SNVPathogenicrs137852670GRCh37Chr 11, 68696697: 68696697
12IGHMBP2NG_007976.1: g.(7904_7936)_(26407_26439)deldeletionPathogenicGRCh38Chr 11, 68906754: 68925289
13SMN1SMN1, 11-BP DUP, 801-811duplicationPathogenicChr na, -1: -1
14SMN1NM_000344.3(SMN1): c.821C> T (p.Thr274Ile)SNVPathogenicGRCh37Chr 5, 70241990: 70241990
15SMN1NM_000344.3(SMN1): c.785G> T (p.Ser262Ile)SNVPathogenicGRCh37Chr 5, 70241954: 70241954
16SMN1NM_000344.3(SMN1): c.815A> G (p.Tyr272Cys)SNVPathogenicrs104893922GRCh37Chr 5, 70241984: 70241984
17SMN1NM_000344.3(SMN1): c.836G> T (p.Gly279Val)SNVPathogenicrs76163360GRCh37Chr 5, 70247769: 70247769
18SMN1NM_000344.3(SMN1): c.5C> G (p.Ala2Gly)SNVPathogenicGRCh37Chr 5, 70220935: 70220935
19SMN1SMN1, EX8DELdeletionPathogenicChr na, -1: -1
20SMN1SMN1, IVS7DS, T-G, +6SNVPathogenicChr na, -1: -1
21SMN1SMN1, 5-BP DEL, 425deletionPathogenicChr na, -1: -1
22SMN1NM_000344.3(SMN1): c.131A> T (p.Asp44Val)SNVPathogenicrs104893931GRCh37Chr 5, 70234715: 70234715
23SMN1NM_000344.3(SMN1): c.305G> A (p.Trp102Ter)SNVPathogenicrs77804083GRCh37Chr 5, 70238216: 70238216
24SMN1SMN1, 4-BP DEL, 399AGAGdeletionPathogenicChr na, -1: -1
25SMN1NM_000344.3(SMN1): c.283G> C (p.Gly95Arg)SNVPathogenicrs104893927GRCh37Chr 5, 70238194: 70238194
26SMN1NM_000344.3(SMN1): c.332C> G (p.Ala111Gly)SNVPathogenicrs104893935GRCh37Chr 5, 70238243: 70238243
27SMN1NM_000344.3(SMN1): c.784A> G (p.Ser262Gly)SNVPathogenicrs104893932GRCh37Chr 5, 70241953: 70241953
28SMN1NM_000344.3(SMN1): c.346A> T (p.Ile116Phe)SNVPathogenicrs104893933GRCh37Chr 5, 70238257: 70238257
29SMN1NM_000344.3(SMN1): c.406C> G (p.Gln136Glu)SNVPathogenicrs104893934GRCh37Chr 5, 70238317: 70238317

Copy number variations for Spinal Muscular Atrophy from CNVD:

6 (show all 22)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
156865116170000063400000Gain or lossBSCL2Spinal muscular atrophy
257464116340000077100000Copy numberBSCL2Spinal muscular atrophy
319852452570000076400000DeletionSMN1Spinal muscular atrophy
4199998546424470285525Copy numberSMN2Spinal muscular atrophy
5199999546424470285525Copy numberSMN2Spinal muscular atrophy
6200000546424470285525DeletionSMNSpinal muscular atrophy
7200001546424470285525DeletionSMN2Spinal muscular atrophy
820121156670000076900000AmplificationSpinal muscular atrophy
920121356670000076900000Copy numberSMN1Spinal muscular atrophy
1020121456670000076900000Copy numberSMN2Spinal muscular atrophy
1120121556670000076900000DeletionSMN2Spinal muscular atrophy
1220133256840000073300000Gain or lossSMA3Spinal muscular atrophy
1320133356840000073300000Gain or lossSMA4Spinal muscular atrophy
1420133456840000073300000Gain or lossSMN1Spinal muscular atrophy
1520133556840000073300000Copy numberSMA3Spinal muscular atrophy
1620133656840000073300000Copy numberSMA3Spinal muscular atrophy
1720133756840000073300000Copy numberSMA4Spinal muscular atrophy
1820133856840000073300000Copy numberSMA4Spinal muscular atrophy
1920147356934534970249769Copy numberSMNSpinal muscular atrophy
2020147456934534970249769Copy numberSMN2Spinal muscular atrophy
2120147556934534970249769Copy numberSMN2Spinal muscular atrophy
2220147656934534970249769DeletionSMN1Spinal muscular atrophy

Expression for genes affiliated with Spinal Muscular Atrophy

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

Pathways for genes affiliated with Spinal Muscular Atrophy

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

idSuper pathwaysScoreTop Affiliating Genes
19.8DDX20, GEMIN2, SMN1, SMN2

GO Terms for genes affiliated with Spinal Muscular Atrophy

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1cytoplasmic ribonucleoprotein granuleGO:003646410.8SMN1, SMN2
2SMN-Sm protein complexGO:003471910.4DDX20, GEMIN2, SMN1, SMN2
3Cajal bodyGO:001503010.4COIL, SMN1, SMN2, ZPR1
4Gemini of coiled bodiesGO:009750410.3DDX20, GEMIN2, SMN1, SMN2, ZPR1
5neuron projectionGO:004300510.2ATP7A, NAIP, SMN1, SMN2
6growth coneGO:003042610.2IGHMBP2, TRPV4, ZPR1
7SMN complexGO:003279710.2DDX20, GEMIN2, IGHMBP2, SMN1, SMN2, ZPR1
8perikaryonGO:00432049.9NAIP, SMN1, SMN2, ZPR1
9cytosolGO:00058298.9AR, ATP7A, DDX20, DYNC1H1, GEMIN2, PLEKHG5
10nucleoplasmGO:00056548.5AR, COIL, DDX20, GEMIN2, GTF2H2, SMN1
11cytoplasmGO:00057378.0AR, BICD2, DDX20, DYNC1H1, GEMIN2, IGHMBP2

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

idNameGO IDScoreTop Affiliating Genes
1DNA-templated transcription, terminationGO:000635310.8SMN1, SMN2
2spliceosomal complex assemblyGO:000024510.3GEMIN2, SMN1, SMN2
3spliceosomal snRNP assemblyGO:000038710.2DDX20, GEMIN2, SMN1, SMN2
4nuclear importGO:005117010.2DDX20, GEMIN2, SMN1, SMN2
5nervous system developmentGO:00073999.9NAIP, SERF1A, SMN1, SMN2

Molecular functions related to Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1dynein light intermediate chain bindingGO:005195910.9BICD2, DYNC1H1
2ATP bindingGO:00055249.8ATP7A, DDX20, DYNC1H1, IGHMBP2, NAIP, TRPV4
3protein bindingGO:00055157.3AR, ATP7A, BICD2, COIL, DDX20, DYNC1H1

Sources for Spinal Muscular Atrophy

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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