MCID: HRD088
MIFTS: 41

Hereditary Neuropathies malady

Categories: Neuronal diseases, Immune diseases, Rare diseases

Aliases & Classifications for Hereditary Neuropathies

About this section
Sources:
49NINDS, 50Novoseek, 68UMLS
See all MalaCards sources

Aliases & Descriptions for Hereditary Neuropathies:

Name: Hereditary Neuropathies 49
Hereditary Neuropathy 50 68
 
Neuropathy - Hereditary 49

Classifications:



Summaries for Hereditary Neuropathies

About this section
NINDS:49 Hereditary neuropathies are a group of inherited disorders affecting the peripheral nervous system. The hereditary neuropathies are divided into four major subcategories: hereditary motor and sensory neuropathy, hereditary sensory neuropathy, hereditary motor neuropathy, and hereditary sensory and autonomic neuropathy. The most common type is Charcot-Marie-Tooth disease, one of the hereditary motor and sensory neuropathies. Symptoms of the hereditary neuropathies vary according to the type and may include sensory symptoms such as numbness, tingling, and pain in the feet and hands; or motor symptoms such as weakness and loss of muscle bulk, particularly in the lower leg and feet muscles. Certain types of hereditary neuropathies can affect the autonomic nerves, resulting in impaired sweating, postural hypotension, or insensitivity to pain. Some people may have foot deformities such as high arches and hammer toes, thin calf muscles (having the appearance of an inverted champagne glass) or scoliosis (curvature of the spine). The symptoms of hereditary neuropathies may be apparent at birth or appear in middle or late life. They can vary among different family members, with some family members being more severely affected than others. The hereditary neuropathies can be diagnosed by blood tests for genetic testing, nerve conduction studies, and nerve biopsies.

MalaCards based summary: Hereditary Neuropathies, also known as hereditary neuropathy, is related to hereditary motor and sensory neuropathy via and hereditary neuropathy with liability to pressure palsy. An important gene associated with Hereditary Neuropathies is PMP22 (Peripheral Myelin Protein 22), and among its related pathways are Neural Crest Differentiation and Glial Cell Differentiation. Affiliated tissues include testes, eye and thyroid, and related mouse phenotypes are Increased gamma-H2AX phosphorylation and hearing/vestibular/ear.

Related Diseases for Hereditary Neuropathies

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Diseases in the Neuropathy family:

Autoimmune Neuropathy Hereditary Type 1 Neuropathy
Hereditary Type 2 Neuropathy hereditary neuropathies

Diseases related to Hereditary Neuropathies via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 101)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary motor and sensory neuropathy via32.8MFN2, PMP22
2hereditary neuropathy with liability to pressure palsy12.1
3neuropathy, hereditary motor and sensory, russe type12.0
4neuropathy, hereditary sensory, type ie12.0
5neuropathy, hereditary sensory and autonomic, type ii12.0
6neuropathy, hereditary sensory and autonomic, type v11.9
7neuropathy, hereditary sensory and autonomic, type vii11.9
8neuropathy, hereditary sensory, with spastic paraplegia11.9
9neuropathy, hereditary sensory and autonomic, type iib11.9
10neuropathy, hereditary sensory and autonomic, type vi11.9
11neuropathy, hereditary sensory, type id11.9
12neuropathy, hereditary sensory and autonomic, type ic11.9
13neuropathy, hereditary sensory, type iic11.9
14neuropathy, hereditary motor and sensory, type vib11.9
15neuropathy, hereditary sensory and autonomic, type ia11.9
16neuropathy, hereditary sensory, type if11.9
17neuropathy, hereditary sensory and autonomic, type viii11.8
18charcot-marie-tooth hereditary neuropathy11.8
19neuropathy, hereditary thermosensitive11.8
20neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers11.7
21neuropathy, hereditary sensory, type ib11.6
22neuropathy, recurrent, with pressure palsies11.6
23hereditary motor and sensory neuropathy, okinawa type11.5
24macular degeneration, age-related, 311.3
25charcot-marie-tooth disease11.1
26mononeuropathy of the median nerve, mild10.7
27neuropathy10.7
28tangier disease10.7
29charcot-marie-tooth neuropathy10.7
30hereditary orotic aciduria without megaloblastic anaemia10.6MPZ, PMP22
31headache10.6MPZ, PMP22
32charcot-marie-tooth neuropathy x type 310.6MPZ, PRX
33chronic polyneuropathy10.5MPZ, PMP22
34ovarian papillary cystadenoma10.5MBP, MPZ
35charcot-marie-tooth neuropathy type 2e/1f10.4GJB1, MPZ, PMP22
36anal canal adenocarcinoma10.4GJB1, MPZ, PMP22
37congestive heart failure10.4MBP, MPZ, PMP22
38potocki-lupski syndrome10.4GJB1, MPZ, PMP22
39charcot-marie-tooth disease, type 1e10.4MBP, MPZ, PMP22
40smooth muscle tumor10.4MBP, MPZ, PMP22
41achilles bursitis10.4MBP, MPZ, PMP22
42secondary hypertrophic osteoarthropathy10.2GJB1, MPZ, PMP22, PRX
43noninfectious dermatoses of eyelid10.2MBP, MFN2
44lymphoepithelioma-like carcinoma10.2MBP, MFN2
45infertility10.2MAG, PMP22
46hepatic osteogenic sarcoma10.1MAG, MBP
47thrombophilia due to antithrombin iii deficiency10.1DNAJB2, MFN2, MPZ, PMP22
48neuropathy, congenital hypomyelinating10.1DNAJB2, MFN2, MPZ, PMP22
49tooth disease10.1
50charcot-marie-tooth disease, type 1b10.1DNAJB2, GJB1, MFN2, MPZ

Graphical network of the top 20 diseases related to Hereditary Neuropathies:



Diseases related to hereditary neuropathies

Symptoms & Phenotypes for Hereditary Neuropathies

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GenomeRNAi Phenotypes related to Hereditary Neuropathies according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00053-A8.0FBXW10, GJB1, LMNA, MAG, MBP, MPZ

MGI Mouse Phenotypes related to Hereditary Neuropathies according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8LMNA, MAG, MBP, PLP1, PMP22, RAG1
2MP:00053978.2GJB1, LMNA, MAG, MBP, MPZ, NDRG1
3MP:00053848.2GJB1, LMNA, MBP, MFN2, MPZ, NDRG1
4MP:00053788.2GJB1, LMNA, MFN2, MTMR2, NDRG1, PLP1
5MP:00053917.9GJB1, LMNA, MBP, NDRG1, PLP1, PMP22
6MP:00107687.8GJB1, LMNA, MBP, MFN2, MPZ, MTMR2
7MP:00053867.2GJB1, LMNA, MAG, MBP, MFN2, MPZ
8MP:00036317.1GJB1, LMNA, MAG, MBP, MFN2, MPZ

Drugs & Therapeutics for Hereditary Neuropathies

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Drugs for Hereditary Neuropathies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 152)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Propranololapproved, investigationalPhase 4216525-66-64946
Synonyms:
(+-)-Propranolol
(1)-1-(Isopropylamino)-3-(naphthyloxy)propan-2-ol
(R)-(+)-propranolol
(S)-(-)-PROPRANOLOL
1-((1-Methylethyl)amino)-3-(1-naphthalenyloxy)-2-propanol
1-(1-Naphthyloxy)-2-hydroxy-3-(isopropylamino)propane
1-(Isopropylamino)-3-(1-naphthoxy)-propan-2-ol
1-(Isopropylamino)-3-(1-naphthyloxy)-2-propanol
1-(isopropylamino)-3-(1-naphthyloxy)propan-2-ol
1-(naphthalen-1-yloxy)-3-(propan-2-ylamino)propan-2-ol
1-Isopropylamino-3-(1-naphthyloxy)-2-propanol
1-[(1-methylethyl)amino]-3-(naphthalen-1-yloxy)propan-2-ol
1-naphthalen-1-yloxy-3-(propan-2-ylamino)propan-2-ol
13013-17-7
2-Propanol, 1-((1-methylethyl)amino)-3-(1-naphthalenyloxy)- (9CI)
2-Propanol, 1-((1-methylethyl)amino)-3-(1-naphthalenyloxy)-, (+-)- (9CI)
3-(naphthalen-1-yloxy)-1-(propan-2-ylamino)propan-2-ol
4199-09-1
4199-10-4
525-66-6
AB00053537
AC1L1JA4
AC1Q1QBV
AC1Q1QC0
AKOS000588816
AY 64043
AY-20694
Anaprilin
Anapriline
Angilol
Apsolol
Avlocardyl
BPBio1_001040
BRD-A10070317-003-06-9
BSPBio_000944
BSPBio_002682
Bedranol
Beprane
Berkolol
Beta Neg
Beta-Neg
Beta-Propranolol
Beta-Tablinen
Beta-Timelets
Betachron
Betadren
Betalong
Bio-0732
Bio1_000367
Bio1_000856
Bio1_001345
C07407
C16H21NO2
CBDivE_006180
CCRIS 3082
CHEBI:8499
CHEMBL27
CID4946
Cardinol
Caridolol
Corpendol
D,L-Propranolol
D08443
DB00571
DL-Propranolol hydrochloride
Deralin
DivK1c_000023
Dl-Propranolol Hydrochloride
Dociton
Duranol
EINECS 208-378-0
EINECS 235-867-6
Efektolol
Elbrol
Etalong
Euprovasin
Frekven
HMS2090L21
Herzbase
ICI 45520
IDI1_000023
INDERIDE-40/25
INDERIDE-80/25
Ikopal
Inderal
Inderal La
Inderal hydrochloride
Inderalici
Inderex
Inderide
Inderol
Indobloc
InnoPranXL
 
Innopran XL
Intermigran
KBio1_000023
KBio2_002515
KBio2_005083
KBio2_007651
KBio3_001766
KBio3_001902
KBio3_002993
KBioGR_001347
KBioGR_001684
KBioGR_002515
KBioSS_002523
Kemi
Kemi S
L000679
LS-122410
LS-184129
Lopac0_000896
Migrastat
MolPort-001-794-623
NCGC00015798-07
NCGC00024690-02
NCGC00024690-03
NINDS_000023
NSC91523
Naprilin
Obsidan
Obzidan
Oposim
Oprea1_304193
PDSP1_000767
PDSP1_001607
PDSP1_001608
PDSP2_000755
PDSP2_001591
PDSP2_001592
Prano-Puren
Pranolol
Prestwick0_000952
Prestwick1_000952
Prestwick2_000952
Prestwick3_000952
Pronovan
Propanalol
Propanix
Propanolol
Propanolol [INN-Spanish]
Prophylux
Propranalol
Propranolol
Propranolol (INN)
Propranolol (TN)
Propranolol Hcl
Propranolol Hcl Intensol
Propranolol Hydrochloride
Propranolol [INN:BAN]
Propranololo
Propranololo [DCIT]
Propranololum
Propranololum [INN-Latin]
Propranur
Proprasylyt
Pylapron
R,S-Propranolol Hydrochloride
Racemic propranolol
Rapynogen
Reducor
Reducor Line
Reducor line
SPBio_001361
SPBio_001658
SPBio_003093
STK735510
Sagittol
Sawatal
Servanolol
Sloprolol
Spectrum2_001301
Spectrum2_001699
Spectrum3_000883
Spectrum3_001071
Spectrum4_000974
Spectrum4_001222
Spectrum5_000751
Sumial
Tesnol
UNII-9Y8NXQ24VQ
b-Propranolol
beta-Propranolol
cMAP_000071
etalong
propranolol
propranololo
β-Propranolol
2
Metoprololapproved, investigationalPhase 420137350-58-6, 51384-51-14171
Synonyms:
(+/-)-Metoprolol
(RS)-Metoprolol
1-(Isopropylamino)-3-(4-(2-methoxyethyl)phenoxy)propan-2-ol
1-(Isopropylamino)-3-(p-(2-methoxyethyl)phenoxy)-2-propanol
1-(isopropylamino)-3-[4-(2-methoxyethyl)phenoxy]propan-2-ol
1-[(1-methylethyl)amino]-3-({4-[2-(methyloxy)ethyl]phenyl}oxy)propan-2-ol
1-[4-(2-methoxyethyl)phenoxy]-3-(propan-2-ylamino)propan-2-ol
1-[4-(2-methoxyethyl)phenoxy]-3-propan-2-ylamino-propan-2-ol
3-[4-(2-methoxyethyl)phenoxy]-1-(propan-2-ylamino)propan-2-ol
37350-58-6
51384-51-1
54163-88-1
AB00053499
AC-19022
AC1L1HKM
AstraZeneca Brand of Metaoprolol Tartrate
AstraZeneca Brand of Seloken
BRD-A03623303-045-02-0
Beatrolol
Beloc
Beloc Duriles
Beloc-Duriles
BelocDuriles
Betaloc
Betaloc Astra
Betaloc-Astra
BetalocAstra
Betalok
C07202
CCRIS 4198
CGP 2175
CGP-2175
CGP2175
CHEBI:6904
CHEMBL13
CID4171
D008790
D02358
DB00264
DL-metoprolol
Dl-Metoprolol
Dutoprol
EINECS 253-483-7
EINECS 257-166-4
H 93 26
H 93-26
H 9326
 
HMS2090B15
HSDB 6531
I01-7125
I06-0125
Jsp006606
L000669
LOPRESSIDONE
LS-122450
Leiras Brand of Metoprolol Succinate or Metoprolol Tartrate
Lopresor
Lopresoretic
Lopressor
Lopressor HCT
Meijoprolol
Metohexal
Metoprolol
Metoprolol (USAN/INN)
Metoprolol Tartrate
Metoprolol [USAN:INN:BAN]
Metoprolol slow release
Metoprolol succinate
Metoprolol tartrate
Metoprololum
Metoprololum [INN-Latin]
Metroprolol
MolPort-005-938-039
NCGC00021148-02
NCGC00021148-03
NCGC00021148-04
Novartis Brand of Metprolol Tartrate
Preblok
Prelis
Presolol
Selo-Zok
Seloken
Seloken AstraZeneca Brand
Selopral
Seroken
Spesicor
Spesikor
TOPROL-XL
Tartrate, Metoprolol
Toprol
Toprol XL
Toprol-XL
UNII-GEB06NHM23
dl-Metoprolol
metoprolol
3
Diclofenacapproved, vet_approvedPhase 430915307-86-53033
Synonyms:
(2,6-Dichlorophenyl)amino]benzeneacetic acid
15307-81-0 (mono-potassium salt)
15307-86-5
2-((2,6-Dichlorophenyl)amino)benzeneacetic acid
2-((2,6-dichlorophenyl)amino)benzeneacetic acid
2-(2,6-Dichloroanilino)phenylacetic Acid
2-(2,6-Dichlorophenylamino)phenylacetic acid
2-[(2,6-Dichlorophenyl)amino]benzeneacetic acid
2-[2,6-DICHLOROPHENYL)AMINO]BENZENEACETIC ACID
2-[2-(2,6-Dichlorophenylamino)phenyl]acetic acid
2-[2-(2,6-dichloroanilino)phenyl]acetic acid
2b17
AC1L1F0T
AKOS001579542
Acetic acid, [o-(2,6-dichloroanilino)phenyl]- (8CI)
Allvoran
Apo-Diclo
Assaren
BIDD:GT0380
BPBio1_000516
BRD-K08252256-236-05-6
BRN 2146636
BSPBio_000468
BSPBio_002169
Benfofen
Benzeneacetic acid, 2-((2,6-dichlorophenyl)amino)- (9CI)
C01690
CHEBI:47381
CHEMBL139
CID3033
Cataflam
D07816
D30801
D3748
DB00586
DIF
Delphimix
Dichlofenac
Dichlofenal
Dichronic
Diclac
Diclo-Phlogont
Diclo-Puren
Diclobenin
Diclofenac (INN)
Diclofenac Acid
Diclofenac Potassium
Diclofenac Sodium
Diclofenac [INN:BAN]
Diclofenac acid
Diclofenaco
Diclofenaco [INN-Spanish]
Diclofenacum
Diclofenacum [INN-Latin]
Diclofenamic acid
Diclomelan
Diclonate P
Diclophenac
Diclord
Dicloreum
Dicloreuma
Dicrofenac
DivK1c_000272
DivK1c_000402
Dolobasan
Duravolten
Dyloject
EINECS 239-348-5
Ecofenac
Effekton
GP-45,840
HMS2090C10
HMS501E04
HSDB 7234
I14-7739
 
IDI1_000272
IDI1_000402
ISV-205
KBio1_000272
KBio1_000402
KBio2_001410
KBio2_002306
KBio2_003978
KBio2_004874
KBio2_006546
KBio2_007442
KBio3_001389
KBio3_002786
KBioGR_001051
KBioGR_002306
KBioSS_001410
KBioSS_002308
Kriplex
LS-11575
Lopac0_000441
MolPort-000-003-072
N-(2,6-Dichlorop
NCGC00021125-01
NINDS_000272
NINDS_000402
Neriodin
Novapirina
Novo-Difenac
Novo-Difenac SR
Nu-Diclo
Oprea1_011155
Orthofen
Pennsaid
Prestwick0_000594
Prestwick1_000594
Prestwick2_000594
Prestwick3_000594
Primofenac
ProSorb-D
Prophenatin
Rhumalgan
SBB068617
SPBio_001081
SPBio_002687
SR-38
STK984493
Solaraze
Solaraze (TN)
Solaraze T
Spectrum2_000991
Spectrum3_000385
Spectrum4_000506
Spectrum5_000867
Spectrum_000930
Transfenac
Tsudohmin
UNII-144O8QL0L1
UNM000001216103
Valetan
Voldal
Voltaflan
Voltaren
Voltaren Ophtha
Voltaren Ophthalmic
Voltaren Rapide
Voltaren SR
Voltaren ophthalmic
Voltaren-XR
Voltarol
Xenid
[2-(2,6-dichloroanilino)phenyl]acetic acid
[o-(2,6-Dichloroanilino)phenyl]acetic acid
cMAP_000014
dichlofenac
diclofenac
henyl)-o-aminophenylacetic acid
{2-[(2,6-dichlorophenyl)amino]phenyl}acetic acid
4Idebenoneapproved, investigationalPhase 4, Phase 3, Phase 2, Phase 12158186-27-9
5
Triamcinoloneapproved, vet_approvedPhase 4482124-94-731307
Synonyms:
(8S,9R,10S,11S,13S,14S,16R,17S)-9-fluoro-11,16,17-trihydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,11,12,14,15,16-octahydrocyclopenta[a]phenanthren-3-one
11-beta,16-alpha,17-alpha,21-Tetrahydroxy-9-alpha-fluoro-1,4-pregnadiene-3,20-dione
11.Beta.,16.alpha.,17.alpha., 21-Tetrahydroxy-9.alpha.-fluoro-1,4-pregnadiene-3,20-dione
11.beta.,16.alpha.,17.alpha.,21-Tetrahydroxy-9.alpha.-fluoro-1,4-pregnadiene-3,20-dione
11β,16α,17α,21-tetrahydroxy-9α-fluoro-1,4-pregnadiene-3,20-dione
124-94-7
4-08-00-03629 (Beilstein Handbook Reference)
83474-03-7
9-Fluoro-11,16,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9-Fluoro-11beta,16alpha,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9-alpha-Fluoro-11-beta,16-alpha,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9-alpha-Fluoro-16-alpha-hydroxyprednisolone
9-fluoro-11β,16α,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9.Alpha.-Fluoro-11.beta.,16.alpha.,17,21-tetrahy
9.Alpha.-Fluoro-11.beta.,16.alpha.,17.alpha., 21-tetrahydroxypregna-1,4-diene-3,20-d
9.alpha.-Fluoro-11.beta.,16.alpha.,17,21-tetrahydroxy-1,4-pregnadiene-3,20-dione
9.alpha.-Fluoro-11.beta.,16.alpha.,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9.alpha.-Fluoro-11.beta.,16.alpha.,17.alpha.,21-tetrahydroxypregna-1,4-diene-3,20-dione
9.alpha.-Fluoro-16.alpha.-hydroxyprednisolone
9alpha-Fluoro-11beta,16alpha,17,21-tetrahydroxy-1,4-pregnadiene-3,20-dione
9alpha-Fluoro-11beta,16alpha,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9alpha-Fluoro-16alpha-hydroxyprednisolone
9α-fluoro-11β,16α,17,21-tetrahydroxypregna-1,4-diene-3,20-dione
9α-fluoro-11β,16α,17α,21-tetrahydroxypregna-1,4-diene-3,20-dione
9α-fluoro-16α-hydroxyprednisolone
AC-2072
AC1L1LDH
AC1Q5HJC
Adcortyl
Aristocort
Aristocort A
Aristocort Tablets
Aristogel
Aristospan
Azmacort
BPBio1_000154
BRD-K77554836-001-03-3
BRN 2341955
BSPBio_000140
Bio-0662
C21H27FO6
CHEMBL1451
CID31307
CL 19823
Celeste
Cinolone
Cinolone-T
D00385
D014221
DB00620
Delphicort
EINECS 204-718-7
EU-0101179
Fluoxiprednisolone
Fluoxyprednisolone
Flutex
Fougera
HMS1568G22
HMS2090D12
HSDB 3194
Kenacort
Kenacort (TN)
Kenacort-A
Kenacort-AG
Kenacort-Ag
Kenalog
Kenalog in Orabase
Kenalog-10
Kenalog-40
Kenalog-H
LS-698
Ledercort
Lopac0_001179
 
MLS000028542
MLS001066543
MLS002695935
MolPort-002-528-981
Mycolog
NCGC00021580-03
NCGC00021580-04
NCGC00021580-05
NCGC00021580-06
NCGC00021580-07
NCI60_000750
NSC 13397
NSC13397
Nasacort
Nasacort Aq
Nasacort Hfa
Omcilon
Omicilon
Oracort
Oralone
Orion
Polcortolon
Pregna-1,4-diene-3,20-dio
Pregna-1,4-diene-3,20-dione, 9-fluoro-11,16,17,21-tetrahydroxy-, (11beta,16alpha)
Pregna-1,4-diene-3,20-dione, 9-fluoro-11beta,16alpha,17,21-tetrahydroxy- (8CI)
Prestwick0_000120
Prestwick1_000120
Prestwick2_000120
Prestwick3_000120
Prestwick_438
Rodinolone
S1933_Selleck
SK-Triamcinolone
SMP1_000300
SMR000058333
SPBio_002079
Sk-Triamcinolone
T6376_SIGMA
TRIAMCINOLONE (SEE ALSO TRIAMCINOLONE ACETONIDE (76-25-5) AND TRIAMCINOLONE DIACETATE (67-78-7))
Tiamcinolonum
Tiamcinolonum [INN-Latin]
Tri-Nasal
Triacet
Triacort
Triam-Tablinen
Triamcet
Triamcinalone
Triamcinlon
Triamcinolon
Triamcinolona
Triamcinolona [INN-Spanish]
Triamcinolone (JP15/USP/INN)
Triamcinolone [USAN:INN:BAN:JAN]
Triamcinolone acetonide
Triamcinolone diacetate
Triamcinolone hexacetonide
Triamcinolonum
Triamcinolonum [INN]
Triatex
Tricortale
Triderm
Trilone
Tristoject
Trymex
UNII-1ZK20VI6TY
Vetalog
Volon
Volon A
WLN: L E5 B666 OV KU MUTJ A1 BF CQ E1 FV1Q FQ GQ
ZINC03882036
droxypregna-1,4-diene-3,20-dione
ione
nchembio.2007.53-comp7
triamcinolone
6
Methylprednisoloneapproved, vet_approvedPhase 4115383-43-26741
Synonyms:
(6S,8S,9S,10R,11S,13S,14S,17R)-11,17-dihydroxy-17-(2-hydroxyacetyl)-6,10,13-trimethyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-3-one
(6a,11b)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6alpha,11beta)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6α,11β)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione
.DELTA.1-6.alpha.-Methylhydrocortisone
1-Dehydro-6alpha-methylhydrocortisone
1-dehydro-6alpha-Methylhydrocortisone
1-dehydro-6α-methylhydrocortisone
11-beta,17,21-Trihydroxy-6-alpha-methylpregna-1,4-diene-3,20-dione
11beta,17,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methyl-1,4-pregnadiene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
121673-01-6
4-08-00-03498 (Beilstein Handbook Reference)
46436_FLUKA
46436_RIEDEL
570-35-4
6 Methylprednisolone
6-Methylprednisolone
6-alpha-Methylprednisolone
6.alpha.-Methylprednisolone
6923-42-8
6alpha-Methyl-11beta,17alpha,21-trihydroxy-1,4-pregnadiene-3,20-dione
6alpha-Methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
6alpha-Methylprednisolone
6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
83-43-2
AC1L1N7A
Artisone-Wyeth
Artisone-wyeth
BPBio1_000174
BRD-K35240538-001-03-1
BRN 2340300
BSPBio_000158
Besonia
Bio-0658
CHEBI:6888
CHEMBL650
CID6741
CPD000058330
D00407
D008775
DB00959
Depo-Medrol (acetate)
Dopomedrol
EINECS 201-476-4
Esametone
Firmacort
HMS1568H20
HMS2090B13
HSDB 3127
LMST02030178
LS-118498
Lemod
M0639_SIGMA
M1665
MEPRDL
MLS000028541
MLS001148159
MLS002207191
Medesone
Medixon
Medlone 21
 
Medrate
Medrol
Medrol (TN)
Medrol Adt Pak
Medrol Dosepak
Medrol adt pak
Medrol dosepak
Medrol, Solu-Medrol, Medrone, Methylprednisolone
Medrone
Mesopren
Metastab
Methyleneprednisolone
Methylprednisolon
Methylprednisolone
Methylprednisolone (JP15/USP/INN)
Methylprednisolone [USAN:INN:BAN:JAN]
Methylprednisolone, 6-alpha
Methylprednisolonum
Methylprednisolonum [INN-Latin]
Metilbetasone
Metilprednisolona
Metilprednisolona [INN-Spanish]
Metilprednisolone
Metilprednisolone [DCIT]
Metilprednisolone [Dcit]
Metipred
Metrisone
Metrocort
Metysolon
Moderin
MolPort-002-528-554
NCGC00022735-03
NCI60_001657
NSC-19987
NSC19987
Nirypan
Noretona
Predni N Tablinen
Prednol- L
Pregna-1,4-diene-3,20-dione, 11beta,17,21-trihydroxy-6alpha-methyl- (8CI)
Prestwick0_000279
Prestwick1_000279
Prestwick2_000279
Prestwick3_000279
Prestwick_622
Promacortine
Reactenol
S1733_Selleck
SAM002589984
SMR000058330
SPBio_002377
Sieropresol
Solomet
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
7
Prednisoloneapproved, vet_approvedPhase 4115350-24-85755
Synonyms:
(11beta)-11,17,21-Trihydroxypregna-1,4-diene-3,20-dione
.DELTA.1-Cortisol
.DELTA.1-Dehydrocortisol
.DELTA.1-Dehydrohydrocortisone
.DELTA.1-Hydrocortisone
.delta.-Cortef
.delta.-Stab
1,2-Dehydrohydrocortisone
1,4-Pregnadiene-11beta,17alpha,21-triol-3,20-dione
1,4-Pregnadiene-3,20-dione-11beta,17alpha,21-triol
1-Dehydrocortisol
1-Dehydrohydrocortisone
3,20-dioxo-11beta,17alpha,21-Trihydroxy-1,4-pregnadiene
46656_FLUKA
46656_RIEDEL
50-24-8
58201-11-9
8056-11-9
AC-1773
AC1L1L2E
Ak-Pred
Ak-Tate
Alphadrol
Articulose-50
BPBio1_000164
BRD-K98039984-001-03-0
BRN 1354103
BSPBio_000148
Bio-0666
Bubbli-Pred
C07369
CCRIS 980
CHEBI:8378
CHEMBL131
CID5755
CO-Hydeltra
CPD000718761
Co-Hydeltra
Codelcortone
Cordrol
Cortalone
Cotogesic
Cotolone
D00472
D011239
DB00860
Decaprednil
Decortin H
Delcortol
Delta F
Delta(1)-dehydrohydrocortisone
Delta-Cortef
Delta-Cortef (TN)
Delta-Ef-Cortelan
Delta-Stab
Delta-stab
Deltacortenol
Deltacortril
Deltacortril Enteric
Deltahydrocortisone
Deltasolone
Deltisilone
Depo-Medrol
Derpo PD
Derpo Pd
Dexa-Cortidelt Hostacortin H
Dexa-Cortidelt hostacortin H
Di Adreson F
Di-Adreson F
Di-Adreson-F
Di-adreson F
DiAdresonF
Dicortol
Donisolone
Dydeltrone
EINECS 200-021-7
Eazolin D
Econopred
Econopred Plus
Erbacort
Erbasona
Estilsona
Fernisolone
Fernisolone P
Fernisolone-P
Flamasone
HMS1568H10
HMS2090J05
HSDB 3385
Hostacortin H
Hydeltra
Hydeltra-Tba
Hydeltrasol
Hydeltrone
Hydrodeltalone
Hydrodeltisone
Hydroretrocortin
Hydroretrocortine
I-Pred
Inflamase Forte
Inflamase Mild
K 1557
Key-Pred
Klismacort
LMST02030179
LS-7669
Lentosone
Lite Pred
M-Predrol
 
MLS001304083
MLS002154250
MLS002207037
Medrol
Medrol Acetate
Metacortandralone
Methylprednisolone Acetate
Meti-Derm
Meticortelone
Metreton
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Ophtho-Tate
Orapred
P0152_SIGMA
P0637
P6004_SIGMA
PRDL
PRED-G
Panafcortelone
Paracortol
Paracotol
Pediapred
Poly-Pred
Precortalon
Precortancyl
Precortilon
Precortisyl
Pred Forte
Pred Mild
Predair
Predair A
Predair Forte
Predalone 50
Predalone T.B.A.
Predate
Predate Tba
Predate-50
Predcor-25
Predcor-50
Predcor-Tba
Predisolone Sodium Phosphate
Predne-Dome
Prednelan
Predni-Dome
Prednicen
Predniliderm
Predniretard
Prednis
Prednisolona
Prednisolona [INN-Spanish]
Prednisolone (JP15/USP/INN)
Prednisolone (anhydrous)
Prednisolone Acetate
Prednisolone Sodium Phosphate
Prednisolone Tebutate
Prednisolone [INN:BAN:JAN]
Prednisolonum
Prednisolonum [INN-Latin]
Predonin
Predonine
Prelone
Prenolone
Prestwick0_000274
Prestwick1_000274
Prestwick2_000274
Prestwick3_000274
Prestwick_404
Rolisone
S1737_Selleck
SAM002264639
SMR000718761
SPBio_002367
Scherisolon
Solone
Steran
Sterane
Sterolone
Supercortisol
UNII-9PHQ9Y1OLM
Ulacort
Ultra Pred
Ultracorten H
Ultracortene H
Ultracortene-H
Ultracortene-Hydrogen
Ultracortene-hydrogen
ZINC03833821
component of Ataraxoid
component of K-Predne-Dome
delta(1)-Cortisol
delta(1)-Dehydrocortisol
delta(1)-Dehydrohydrocortisone
delta(1)-Hydrocortisone
delta(sup 1)-Cortisol
delta(sup 1)-Dehydrocortisol
delta(sup 1)-Dehydrohydrocortisone
delta(sup 1)-Hydrocortisone
delta-dehydrocortisol
delta-dehydrohydrocortisone
delta-hydrocortisone
prednisolone
8
Folic Acidapproved, nutraceutical, vet_approvedPhase 4, Phase 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
9AnalgesicsPhase 4, Phase 3, Phase 211287
10Peripheral Nervous System AgentsPhase 4, Phase 3, Phase 222776
11AntioxidantsPhase 4, Phase 3, Phase 2, Phase 12928
12Protective AgentsPhase 4, Phase 2, Phase 3, Phase 17190
13Antirheumatic AgentsPhase 4, Phase 3, Phase 210627
14MicronutrientsPhase 4, Phase 2, Phase 3, Phase 15802
15Immunosuppressive AgentsPhase 4, Phase 212770
16Trace ElementsPhase 4, Phase 2, Phase 3, Phase 15802
17Neuroprotective AgentsPhase 4, Phase 2, Phase 3, Phase 11672
18Neurotransmitter AgentsPhase 4, Phase 3, Phase 217734
19Gastrointestinal AgentsPhase 4, Phase 3, Phase 28109
20triamcinolone acetonidePhase 4482
21SympatholyticsPhase 4555
22Cyclooxygenase InhibitorsPhase 4, Phase 22778
23Vasodilator AgentsPhase 43438
24Autonomic AgentsPhase 4, Phase 3, Phase 29774
25Adrenergic AgentsPhase 4, Phase 3, Phase 25140
26Adrenergic AntagonistsPhase 41535
27Triamcinolone diacetatePhase 4482
28Vitamin B ComplexPhase 4, Phase 2, Phase 34229
29Triamcinolone hexacetonidePhase 4482
30Thioctic AcidPhase 4, Phase 2115
31Adrenergic beta-1 Receptor AntagonistsPhase 4350
32VitaminsPhase 4, Phase 2, Phase 3, Phase 15095
33Anti-Inflammatory Agents, Non-SteroidalPhase 4, Phase 3, Phase 24295
34Anti-Inflammatory AgentsPhase 4, Phase 3, Phase 210355
35Antihypertensive AgentsPhase 44095
36Anti-Arrhythmia AgentsPhase 4, Phase 22969
37Analgesics, Non-NarcoticPhase 4, Phase 3, Phase 26260
38Adrenergic beta-AntagonistsPhase 41154
39Central Nervous System DepressantsPhase 4, Phase 312806
40AnestheticsPhase 4, Phase 39001
41Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 4, Phase 212767
42HormonesPhase 4, Phase 213979
43Hormone AntagonistsPhase 4, Phase 212778
44Diuretics, Potassium SparingPhase 4, Phase 21827
45Sodium Channel BlockersPhase 4, Phase 21515
46Prednisolone phosphatePhase 41153
47glucocorticoidsPhase 44920
48Antineoplastic Agents, HormonalPhase 45407
49Prednisolone hemisuccinatePhase 41153
50Methylprednisolone acetatePhase 41153

Interventional clinical trials:

(show top 50)    (show all 122)
idNameStatusNCT IDPhase
1Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients.CompletedNCT01997489Phase 4
2Postoperative Alpha Lipoic Acid in the Carpal Tunnel Syndrome: a Randomized Controlled Trial.CompletedNCT01895621Phase 4
3Adjuvant Treatment of Graves´ Ophthalmopathy With NSAID (aGO Study)CompletedNCT01458600Phase 4
4Study to Assess the Efficacy and Safety of Raxone in LHON PatientsRecruitingNCT02774005Phase 4
5Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye DiseaseNot yet recruitingNCT02339142Phase 4
6Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall PainWithdrawnNCT02748395Phase 4
7Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A)Unknown statusNCT01289704Phase 2, Phase 3
8A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON)CompletedNCT00528151Phase 3
9Carbidopa for the Treatment of Nausea and Vomiting in Familial DysautonomiaCompletedNCT01212484Phase 3
10Safety and Efficacy Study of Fx-1006A in Patients With Familial AmyloidosisCompletedNCT00409175Phase 2, Phase 3
11High Dose Ascorbic Acid Treatment of CMT1ACompletedNCT00484510Phase 2, Phase 3
12An Extension of Study Fx-005 Evaluating Long-Term Safety And Clinical Outcomes Of Fx-1006A In Patients With Transthyretin Amyloid PolyneuropathyCompletedNCT00791492Phase 2, Phase 3
13Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic AcidCompletedNCT00007020Phase 3
14The Effects Of Bronchodilator Therapy On Respiratory And Autonomic Function In Patients With Familial DysautonomiaCompletedNCT01987219Phase 3
15Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 MutationRecruitingNCT02652780Phase 3
16Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 MutationRecruitingNCT02652767Phase 3
17Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel SyndromeRecruitingNCT02141035Phase 2, Phase 3
18APOLLO: The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated AmyloidosisActive, not recruitingNCT01960348Phase 3
19Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT)Active, not recruitingNCT02579759Phase 3
20ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC)Active, not recruitingNCT02319005Phase 3
21Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic ParaplegiaActive, not recruitingNCT02604186Phase 2, Phase 3
22Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02023866Phase 2, Phase 3
23Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1ANot yet recruitingNCT03023540Phase 3
24Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of ObesityNot yet recruitingNCT03013543Phase 2, Phase 3
25Erythropoietin Spinal Cord Compression Randomized TrialTerminatedNCT00220675Phase 2, Phase 3
26Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary Optic Neuropathy (LHON)WithdrawnNCT01495715Phase 3
27Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic NeuropathyUnknown statusNCT02176733Phase 2
28Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1ACompletedNCT01401257Phase 2
29Study to Assess Efficacy,Safety and Tolerability of Idebenone in the Treatment of Leber's Hereditary Optic NeuropathyCompletedNCT00747487Phase 2
30Ascorbic Acid Treatment in CMT1A Trial (AATIC)CompletedNCT00271635Phase 2
31Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal BleedingCompletedNCT00389935Phase 2
32The Treatment of the Median Nerve for the Elimination of the Symptoms Associated With the Carpal Tunnel SyndromeCompletedNCT00634738Phase 1, Phase 2
33An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry DiseaseCompletedNCT00071877Phase 2
34A Clinical Trial for AMN: Validation of Biomarkers of Oxidative Stress, Efficacy and Safety of a Mixture of AntioxidantsCompletedNCT01495260Phase 2
35Effects of Coenzyme Q10 on Charcot-Marie-Tooth DiseaseCompletedNCT00541164Phase 1, Phase 2
36A Study Investigating the Safety, Tolerability, and Efficacy of Elamipretide (MTP-131) Topical Ophthalmic Solution for the Treatment of Leber's Hereditary Optic NeuropathyRecruitingNCT02693119Phase 2
37Influence of Pronator Teres Release on Treatment of Median Nerve Compression NeuropathyRecruitingNCT01562860Phase 2
38Carbidopa for the Treatment of Excessive Blood Pressure VariabilityRecruitingNCT02553265Phase 2
39The Safety, Tolerability and Efficacy of Dronabinol, for the Treatment of Nausea and Vomiting in Familial DysautonomiaRecruitingNCT02608931Phase 2
40The Safety and Tolerability of Kinetin, in Patients With Familial DysautonomiaRecruitingNCT02274051Phase 2
41The KHENERGY StudyRecruitingNCT02909400Phase 2
42SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot StudyRecruitingNCT02967679Phase 1, Phase 2
43The Nutritional Supplement Phosphatidylserine in Patients With Familial DysautonomiaRecruitingNCT02276716Phase 2
44Celecoxib for Thyroid Eye DiseaseRecruitingNCT02845336Phase 2
45Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström SyndromeRecruitingNCT02739217Phase 2
46L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1Active, not recruitingNCT01733407Phase 1, Phase 2
47Safety Evaluation of Gene Therapy in Leber Hereditary Optic Neuropathy (LHON) PatientsActive, not recruitingNCT02064569Phase 1, Phase 2
48Mexiletine for Muscle Cramps in Charcot Marie Tooth DiseaseActive, not recruitingNCT02561702Phase 2
49Therapeutic Metabolic Intervention in Patients With Spastic Paraplegia SPG5Active, not recruitingNCT02314208Phase 2
50A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2

Search NIH Clinical Center for Hereditary Neuropathies

Genetic Tests for Hereditary Neuropathies

About this section

Anatomical Context for Hereditary Neuropathies

About this section

MalaCards organs/tissues related to Hereditary Neuropathies:

36
Testes, Eye, Thyroid, Tongue, Liver, Spinal cord

Publications for Hereditary Neuropathies

About this section

Articles related to Hereditary Neuropathies:

(show top 50)    (show all 249)
idTitleAuthorsYear
1
Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion. (26982985)
2016
2
The broad clinical spectrum of hereditary neuropathy with liability to pressure palsy (HNPP). (26982983)
2016
3
Compression of Root Level in a Patient with Hereditary Neuropathy with Liability to Pressure Palsy Diagnosed by Magnetic Resonance Imaging: A Case Report. (27149588)
2016
4
Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy. (26815532)
2016
5
Ultrasound pattern sum score, homogeneity score and regional nerve enlargement index for differentiation of demyelinating inflammatory and hereditary neuropathies. (27291881)
2016
6
Molecular genetic diagnosis and clinical features of hereditary neuropathy with liability to pressure palsies in Belarusian patients]. (26977628)
2016
7
Hereditary neuropathy with liability to pressure palsy presenting as a bilateral brachial plexopathy. (26874568)
2016
8
Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience. (26110377)
2015
9
An n-of-one RCT for intravenous immunoglobulin G for inflammation in hereditary neuropathy with liability to pressure palsy (HNPP). (26187721)
2015
10
A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia. (26410747)
2015
11
The modified ultrasound pattern sum score mUPSS as additional diagnostic tool for genetically distinct hereditary neuropathies. (26559821)
2015
12
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom. (25342199)
2015
13
Proximal arm weakness is the most common presentation in young Korean soldiers diagnosed as having hereditary neuropathy with liability to pressure palsy (HNPP). (26462743)
2015
14
Small Heat Shock Proteins and Distal Hereditary Neuropathies. (26878578)
2015
15
Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy. (25326571)
2014
16
Charcot-Marie-Tooth Disease and Related Hereditary Neuropathies: From Gene Function to Associated Phenotypes. (25323870)
2014
17
Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies. (25506001)
2014
18
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. (24646194)
2014
19
Sonographic evaluation of the peripheral nerves in hereditary neuropathy with liability to pressure palsies: a case report. (24639934)
2014
20
Ultrasonographic findings in hereditary neuropathy with liability to pressure palsies. (25005138)
2014
21
Overlap Phenotype between CMT1A and Hereditary Neuropathy with Liability to Pressure Palsies Caused by the Novel Small In-frame Deletion c.407_418del12 in PMP22 Gene. (25265422)
2014
22
Hereditary Neuropathy with Liability to Pressure Palsy Presenting as an Acute Brachial Plexopathy: A Lover's Palsy. (25685136)
2014
23
Axonal dysfunction, dysmyelination, and conduction failure in hereditary neuropathy with liability to pressure palsies. (24752454)
2014
24
HSJ1-related hereditary neuropathies: Novel mutations and extended clinical spectrum. (25274842)
2014
25
Characteristic features of hereditary neuropathy with liability to pressure palsy (HNPP) presenting with brachial plexopathy in soldiers. (25175852)
2014
26
Pain in hereditary neuropathy with liability to pressure palsy: An association with fibromyalgia syndrome? (25042093)
2014
27
Does hereditary neuropathy with liability to pressure palsy predispose to schwannomatosis? (25324890)
2014
28
Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation. (24239057)
2014
29
Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy. (24668782)
2014
30
Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis. (23965407)
2013
31
Bell's palsy and hereditary neuropathy with liability to pressure palsy (HNPP): is there a common genetic background? (23635862)
2013
32
Compound Charcot-Marie-Tooth disease: a kindred with severe hereditary neuropathy, pupil abnormalities and a novel MPZ mutation. (23197742)
2013
33
Hereditary neuropathy with liability to pressure palsy: fulminant radicular dysfunction during anterolateral lumbar interbody fusion. (23881104)
2013
34
Hereditary neuropathy with liability to pressure palsy: a recurrent and bilateral foot drop case report. (24251057)
2013
35
Comments on 'hereditary neuropathy with liability to pressure palsy: an investigation in a rare and large chinese family'. (24192759)
2013
36
DNA testing in hereditary neuropathies. (23931782)
2013
37
Hereditary Neuropathy with Liability to Pressure Palsy: global neuropathy after tourniquet use. (24080438)
2013
38
De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy. (24174593)
2013
39
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated to hereditary neuropathy with liability to pressure palsies (HNPP) and revealed after influenza AH1N1 vaccination. (24146347)
2013
40
Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients. (25337104)
2012
41
Hereditary neuropathy with liability to pressure palsy presenting with hand drop in a young child. (22953141)
2012
42
Beneficial use of steroids in hereditary neuropathy with liability to pressure palsy. (22098098)
2012
43
Massive indoor cycling-induced rhabdomyolysis in a patient with hereditary neuropathy with liability to pressure palsy. (23240383)
2012
44
Charcot-Marie-Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation. (22971232)
2012
45
Hereditary neuropathy with liability to pressure palsies. Diagnosis in the first family (1947) confirmed. (23279343)
2012
46
Two cases of elderly-onset hereditary neuropathy with liability to pressure palsy manifesting bilateral peroneal nerve palsies. (23185166)
2012
47
Coexistence of transthyretin familial amyloid polyneuropathy and hereditary neuropathy with liability to pressure palsy. (22520972)
2012
48
A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype. (22190321)
2012
49
Sonographic features in hereditary neuropathy with liability to pressure palsies. (22581553)
2012
50
Hereditary neuropathy with liability to pressure palsies occurring during military training. (22545374)
2012

Variations for Hereditary Neuropathies

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Expression for genes affiliated with Hereditary Neuropathies

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Search GEO for disease gene expression data for Hereditary Neuropathies.

Pathways for genes affiliated with Hereditary Neuropathies

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Pathways related to Hereditary Neuropathies according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.5GJB1, MBP, MPZ, PMP22
29.2MAG, MBP, PLP1

GO Terms for genes affiliated with Hereditary Neuropathies

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Cellular components related to Hereditary Neuropathies according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1compact myelinGO:004321810.6MBP, PMP22
2microtubule cytoskeletonGO:001563010.1KIF2B, MFN2, NDRG1
3myelin sheathGO:00432098.4MAG, MBP, MPZ, NDRG1, PLP1, PRX

Biological processes related to Hereditary Neuropathies according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1axon ensheathmentGO:000836610.0MBP, PLP1, PRX
2myelinationGO:00425529.8MBP, PLP1, PMP22
3negative regulation of axonogenesisGO:00507719.7MAG, MBP
4chemical synaptic transmissionGO:00072689.7MBP, MPZ, PLP1, PMP22

Molecular functions related to Hereditary Neuropathies according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of myelin sheathGO:00199119.7MBP, PLP1

Sources for Hereditary Neuropathies

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