MCID: PRS023
MIFTS: 36

Pearson Syndrome malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Immune diseases, Endocrine diseases

Aliases & Classifications for Pearson Syndrome

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Aliases & Descriptions for Pearson Syndrome:

Name: Pearson Syndrome 35 11 48 24 13
Pearson Marrow-Pancreas Syndrome 11 48
Sideroblastic Anemia W/marrow Cell Vacuolization & Exocrine Pancreatic Dysfunction 24
Very Long Chain Acyl-Coa Dehydrogenase Deficiency 68
 
Pearson's Marrow/pancreas Syndrome 48
Pearson's Marrow-Pancreas Syndrome 68
Pearson Marrow Pancreas Syndrome 24
Pearson's Syndrome 48

Classifications:



External Ids:

Disease Ontology11 DOID:0060067

Summaries for Pearson Syndrome

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NIH Rare Diseases:48 Pearson syndrome affects many parts of the body but especially the bone marrow and the pancreas. Pearson syndrome affects the cells in the bone marrow (hematopoietic stem cells) that produce red blood cells, white blood cells, and platelets. Having too few red blood cells (anemia), white blood cells (neutropenia), or platelets (thrombocytopenia) can cause a child to feel weak and tired, be sick more often, bruise more easily and take a longer time to stop bleeding when cut. Pearson syndrome also affects the pancreas, which can cause frequent diarrhea and stomach pain, trouble gaining weight, and diabetes. Some children with Person syndrome may also have problems with their liver, kidneys, heart, eyes, ears, and/or brain. Pearson syndrome is caused by a change (mutation) in the mitochondrial DNA. These mutations can make it hard for the cells of the body to make energy. Most cases of Pearson syndrome happen for the first time in a family which means it is not passed down from either parent (de novo mutation). Diagnosis of Pearson syndrome is possible through a bone marrow biopsy, a urine test, or a special stool test. Genetic testing can be completed to confirm the diagnosis. Treatment options include frequent blood transfusions, pancreatic enzyme replacement therapy, and treatment of infections. Sadly, many children with Pearson syndrome die during infancy. Some children may survive into later childhood, but may go on to develop Kearns-Sayre syndrome. Last updated: 10/26/2016

MalaCards based summary: Pearson Syndrome, also known as pearson marrow-pancreas syndrome, is related to pearson marrow-pancreas syndrome and cataract, and has symptoms including hepatomegaly, lethargy and vomiting. An important gene associated with Pearson Syndrome is ACADVL (Acyl-CoA Dehydrogenase, Very Long Chain). Affiliated tissues include pancreas, heart and bone.

Disease Ontology:11 A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.

Wikipedia:71 Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas... more...

Related Diseases for Pearson Syndrome

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Graphical network of the top 20 diseases related to Pearson Syndrome:



Diseases related to pearson syndrome

Symptoms & Phenotypes for Pearson Syndrome

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UMLS symptoms related to Pearson Syndrome:


hepatomegaly, lethargy, vomiting

Drugs & Therapeutics for Pearson Syndrome

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Drugs for Pearson Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 44)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MetforminapprovedPhase 41746657-24-914219, 4091
Synonyms:
1,1-Dimethyl biguanide
1,1-Dimethylbiguanide
3-(diaminomethylidene)-1,1-dimethylguanidine
657-24-9
AC1L1HE4
AKOS000121065
Apo-Metformin
BIDD:GT0697
BPBio1_000009
BRD-K79602928-003-04-1
BSPBio_000007
BSPBio_002314
C07151
C4H11N5
CAS-1115-70-4
CCRIS 9321
CHEBI:6801
CHEMBL1431
CID4091
D04966
DB00331
DMGG
Diabetosan
Diabex
Dimethylbiguanid
Dimethylbiguanide
Dimethylbiguanidine
Dimethyldiguanide
Dimethylguanylguanidine
EINECS 211-517-8
Fluamine
Flumamine
Fortamet
Gen-Metformin
Glifage
Gliguanid
Glucophage
Glucophage XR
Glumetza
Glycon
HMS2089D19
HSCI1_000295
Haurymelin
Haurymellin
Islotin
KBio2_002310
KBio2_004878
KBio2_007446
KBio3_002790
KBioGR_002310
 
KBioSS_002312
LA-6023
LS-43899
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin [USAN:INN:BAN]
Metformina
Metformina [DCIT]
Metformina [Spanish]
Metformine
Metformine [INN-French]
Metformine pamoate
Metforminum
Metforminum [INN-Latin]
Metiguanide
MolPort-002-929-560
MolPort-004-288-389
MolPort-005-767-418
Mylan-Metformin
N,N-Dimethylbiguanide
N,N-Dimethyldiguanide
N,N-Dimethylimidodicarbonimidic diamide
N,N-dimethylimidodicarbonimidic diamide
N1,N1-Dimethylbiguanide
NCGC00016564-01
NCGC00016564-02
NCGC00016564-03
NNDG
Novo-Metformin
Nu-Metformin
PMS-Metformin
Prestwick0_000004
Prestwick1_000004
Prestwick2_000004
Prestwick3_000004
Ran-Metformin
Ratio-Metformin
Riomet
S2483_Selleck
SPBio_001928
STK011633
Sandoz Metformin
Siofor
T5895664
Teva-Metformin
UNII-9100L32L2N
ZINC12859773
cMAP_000016
metformin
metformin hydrochloride
2
Pioglitazoneapproved, investigationalPhase 4435111025-46-84829
Synonyms:
(+-)-5-((4-(2-(5-Ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
(+-)-5-((4-(2-(5-ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
(+/-)-5-[[4-[2-(5-Ethyl-2-pyridinyl)-ethoxy]phenyl]methyl]-2,4-thiazolidinedione
(+/-)-5-[p-[2-(ethyl-2-pyridyl)ethoxy]benzyl]-2,4-thiazolidinedione
105355-27-9
111025-46-8
198077-89-3
2,4-Thiazolidinedione, 5-[[4-[2-(5-ethyl-2-pyridinyl)ethoxy]phenyl]methyl]- (9CI)
5-((4-(2-(5-Ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
5-(4-(2-(5-ethyl-2-pyridyl)ethoxy)benzyl)-2,4-thiazolidinedione
5-[4-[2-(5-Ethyl-2-pyridyl)ethoxy]benzyl]thiazolidine-2,4-dione
5-[[4-[2-(5-Ethyl-2-pyridinyl)ethoxy]phenyl]methyl]-2,4-thiazolidinedione
5-[[4-[2-(5-ethylpyridin-2-yl)ethoxy]phenyl]methyl]-1,3-thiazolidine-2,4-dione
5-[[4-[2-(5-ethylpyridin-2-yl)ethoxy]phenyl]methyl]thiazolidine-2,4-dione
5-[[4-[2-[(5-ethyl-2-pyridyl)]ethoxy]phenyl]methyl]thiazolidine- 2,4-dione
5-{4-[2-(5-ethylpyridin-2-yl)ethoxy]benzyl}-1,3-thiazolidine-2,4-dione
AB1004597
AC-1021
AC1L1J1Q
AD 4833
AD-4833
Actos
Actos (TN)
Actost
BRD-A48430263-003-02-4
BSPBio_002723
C07675
C19H20N2O3S
CHEBI:8228
CHEMBL595
CID4829
D08378
DB01132
Duetact
Glustin
HMS2089H14
HS-0047
 
HSDB 7322
I06-0089
KBio2_002103
KBio2_004671
KBio2_007239
KBio3_001943
KBioGR_001619
KBioSS_002103
LS-151327
MolPort-002-508-211
NCGC00163128-01
NCGC00163128-02
Pioglitazona
Pioglitazona [INN-Spanish]
Pioglitazone
Pioglitazone HCl
Pioglitazone Hydrochloride
Pioglitazone [BAN:INN]
Pioglitazone [Ban:Inn]
Pioglitazone [INN:BAN]
Pioglitazonum
Pioglitazonum [INN-Latin]
SPBio_001897
Spectrum2_001679
Spectrum3_001002
Spectrum4_001130
Spectrum5_001480
Spectrum5_002067
Spectrum_001623
U 72107
U 72107A
U-72107
U72,107A
UNII-X4OV71U42S
Zactos
nchembio790-comp10
pioglitazone (INN)
pioglitazone HCl
3Hypoglycemic AgentsPhase 45733
4
Lamivudineapproved, investigationalPhase 3613134678-17-460825
Synonyms:
(+/-) (Cis)-1-[2-(Hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(+/-)-3TC
(+/-)-BCH-189
(+/-)-SddC
(-)-(2'R,5'S)-1-[2'-Hydroxymethyl-5'-(1,3-oxathiolanyl)]cytosine
(-)-1-((2R,5S)-2-(Hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
(-)-1-[(2R,5S)-2-(Hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-2'-Deoxy-3'-thiacytidine
(-)-BCH 189
(-)-BCH-189
(-)-SddC
(-)-beta-L-2',3'-Dideoxy-3'-thiacytidine
(-)NGPB-21
(2R,cis)-4-amino-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
.beta.-L-(-)-2',3'-dideoxy-3'-thiacytidine & Sho-Saiko-To
134678-17-4
2',3' Dideoxy 3' thiacytidine
2',3'-Dideoxy-3'-thiacytidine
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (+/-) (Cis)
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (-)(2R,5S)
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (-)(2R,5S) & Galanthus Nivalis Agglutinin (GNA)
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (-)(2R,5S) & Hippeastrum hybrid agglutinin( HHA)
3'-Thia-2',3'-dideoxycytidine
3TC
3TC & GNA
3TC & SST
3TC (AIDS INITIATIVE) (AIDS INITIATIVE)
3TC and NV-01
3TC, Zeffix, Heptovir, Epivir, Epivir-HBV, Lamivudine
4-Amino-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
4-amino-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2(1H)-one
4-amino-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2-one
480434-79-5
AC-1416
AC1L1TZZ
AC1Q6C34
BCH 189
BCH-189
BCH-790
BCH189
BIDD:GT0033
Bio-0652
C07065
C8H11N3O3S
CCRIS 9274
CHEBI:133986
CHEMBL141
CID60825
CPD000466319
D00353
D019259
 
DB00709
DRG-0126
DTHC
Epivir
Epivir (TN)
Epivir(TM)
Epivir-HBV
Epzicom
FT-0082667
GG-714
GR 109714X
GR-109714X
GR109714X
HHA & 3TC
HHA & Lamivudine
HMS2051D21
HSDB 7155
Hepitec
Heptivir
Heptodin
Heptovir
L0217
LMV
LS-2107
Lamivir
Lamivudin
Lamivudina
Lamivudine
Lamivudine & GNA
Lamivudine (JAN/USP/INN)
Lamivudine [USAN:BAN:INN]
Lamivudine [USAN:INN:BAN]
Lamivudine [Usan:Ban:Inn]
Lamivudine, (2S-cis)-Isomer
Lamivudinum
MLS000759424
MLS001424097
MolPort-002-507-347
NCGC00159341-03
NCGC00159341-04
NSC620753
S1706_Selleck
SAM001246582
SAM002589994
SMR000466319
STK801940
UNII-2T8Q726O95
ZINC00012346
Zeffix
Zefix
beta-L-2',3'-Dideoxy-3'-thiacytidine
beta-L-3'-Thia-2',3'-dideoxycytidine
lamivudine
5
Abacavirapproved, investigationalPhase 3211136470-78-565140, 441300
Synonyms:
(+/-)-4-[2-Amino-6-(cyclopropylamino)-9H-purin-9-yl]-2-cyclopentene-1-methanol
(+/-)-Abacavir
(1S,4R)-4-[2-Amino-6-(cyclopropylamino)-9H-purin-9-yl]-2-cyclopentene-1-methanol
136470-78-5
1592U89
168146-84-7
ABC
AC1L9AXG
Abacavir (INN)
Abacavir [INN]
Bio-0001
C07624
CHEBI:421707
 
CHEMBL1380
CID441300
D07057
DB01048
Epzicom
NCGC00164560-01
NCGC00164560-02
NSC742406
Trizivir
ZINC02015928
Ziagen
Ziagen (TM)(*Succinate salt*)
[(1S,4R)-4-[2-amino-6-(cyclopropylamino)purin-9-yl]cyclopent-2-en-1-yl]methanol
abacavir
{(1S-cis)-4-[2-amino-6-(cyclopropylamino)-9H-purin-9-yl]cyclopent-2-en-1-yl}methanol
6DolutegravirapprovedPhase 31411051375-16-654726191
7
NorepinephrineapprovedPhase 368351-41-2439260
Synonyms:
(-)-(R)-Norepinephrine
(-)-Arterenol
(-)-Arterenol free base
(-)-NORADRENALINE
(-)-Noradrenaline
(-)-Norepinephrine
(-)-alpha-(Aminomethyl)protocatechuyl alcohol
(R)-(-)-Norepinephrine
(R)-4-(2-Amino-1-hydroxyethyl)-1,2-benzenediol
(R)-4-(2-amino-1-Hydroxyethyl)-1,2-benzenediol
(R)-Noradrenaline
(R)-Norepinephrine
1,2-Benzenediol, 4-(2-amino-1-hydroxyethyl)-, (R)- (9CI)
4-(2-Amino-1-hydroxyethyl)-1,2-benzenediol
4-[(1R)-2-Amino-1-hydroxyethyl]-1,2-benzenediol
4-[(1R)-2-amino-1-hydroxyethyl]benzene-1,2-diol
4899-05-2
51-40-1 (l-tartrate (1:1))
51-41-2
66197-73-7
A7257_SIGMA
AC1L96ZT
ALBB-006229
Adrenor
Aktamin
Arterenol
BRN 4231961
BSPBio_002079
C00547
CHEBI:18357
CHEMBL1437
CID439260
D-(-)-Noradrenaline
D00076
D53D5E3A-2360-4CA9-8031-6C2CD4062FD5
DB00368
DivK1c_000230
EINECS 200-096-6
HMS1920B08
HMS2089E18
HMS2091J08
HMS500L12
IDI1_000230
KBio1_000230
KBio2_001489
KBio2_004057
KBio2_006625
KBio3_001579
KBioGR_000635
KBioSS_001489
L-2-Amino-1-(3,4-dihydroxyphenyl)ethanol
L-3,4-Dihydroxyphenylethanolamine
L-3,4-dihydroxyphenylethanolamine
L-Arterenol
L-Noradrenaline
L-Norepinephrine
L-alpha-(Aminomethyl)-3,4-dihydroxybenzyl alcohol
L-alpha-(aminomethyl)-3,4-dihydroxybenzyl alcohol
L-arterenol
L-noradrenaline
LS-42676
LT03330026
 
LT4
Levarterenol
Levarterenolo
Levarterenolo [DCIT]
Levoarterenol
Levonor
Levonoradrenaline
Levonorepinephrine
Levophed
NCGC00159406-02
NCGC00159406-03
NCGC00159406-04
NCGC00159406-05
NCGC00159406-06
NCGC00159406-07
NCGC00159406-09
NINDS_000230
Nor adrenalin
Nor adrenalin (TN)
Nor-Epirenan
Nor-adrenaline
Noradrenalin
Noradrenalina
Noradrenalina [Italian]
Noradrenaline
Noradrenaline (JP15)
Noradrenalinum
Norartrinal
Noreinefrina
Noreinefrina [INN-Spanish]
Norepinefrina
Norepinephrine
Norepinephrine (INN)
Norepinephrine Noradrenalin
Norepinephrine [INN:JAN]
Norepinephrine l-Tartrate (1:1)
Norepinephrinum
Norepinephrinum [INN-Latin]
Norepirenamine
PDSP1_001111
PDSP2_001095
SGCUT00123
SPBio_001048
SPECTRUM1500436
STK503776
Spectrum2_001064
Spectrum3_000520
Spectrum4_000078
Spectrum5_001068
Spectrum_001009
Sympathin E
UNII-X4W3ENH1CV
bmse000404
l-1-(3,4-Dihydroxyphenyl)-2-aminoethanol
l-2-Amino-1-(3,4-dihydroxyphenyl)ethanol
nchembio.284-comp2
nchembio.64-comp2
nchembio705-1
noradrenaline
norepinefrina
norepinephrine
norepinephrinum
to_000024
8
Terlipressinapproved, investigationalPhase 34914636-12-572081
Synonyms:
(2S)-1-[(4R,7S,10S,13S,16S,19R)-19-[[2-[[2-[(2-aminoacetyl)amino]acetyl]amino]acetyl]amino]-7-(2-amino-2-oxoethyl)-10-(3-amino-3-oxopropyl)-13-benzyl-16-[(4-hydroxyphenyl)methyl]-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carbonyl]-N-[(2S)-6-amino-1-[(2-amino-2-oxoethyl)amino]-1-oxohexan-2-yl]pyrrolidine-2-carboxamide
(2s)-1-{[(4r,7s,10s,13s,16s,19r)-19-{[({[(aminoacetyl)amino]acetyl}amino)acetyl]amino}-7-(2-amino-2-oxoethyl)-10-(3-amino-3-oxopropyl)-13-benzyl-16-(4-hydroxybenzyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentaazacycloicosan-4-yl]carbonyl}-n-{(2s)-6-amino-1-[(2-amino-2-oxoethyl)amino]-1-oxohexan-2-yl}pyrrolidine-2-carboxamide(non-preferred name)
14636-12-5
AC1L2HDP
AC1Q5JB2
CID72081
DB02638
EINECS 238-680-8
HS-2028
LS-161411
 
Lucassin
N-(N-(N-Glycylglycyl)glycyl)-8-L-lysinevasopressin
Terlipressin
Terlipressin [BAN:INN]
Terlipressina
Terlipressina [INN-Spanish]
Terlipressine
Terlipressine [INN-French]
Terlipressinum
Terlipressinum [INN-Latin]
UNII-7Z5X49W53P
glypressin
9Nucleic Acid Synthesis InhibitorsPhase 34855
10Neurotransmitter AgentsPhase 3, Early Phase 117734
11Reverse Transcriptase InhibitorsPhase 31880
12HIV Integrase InhibitorsPhase 3387
13Anti-Infective AgentsPhase 321402
14Anti-HIV AgentsPhase 33100
15Integrase InhibitorsPhase 3408
16Anti-Retroviral AgentsPhase 33232
17Antiviral AgentsPhase 39732
18Natriuretic AgentsPhase 31645
19Vasoconstrictor AgentsPhase 32027
20Peripheral Nervous System AgentsPhase 322776
21LypressinPhase 342
22HemostaticsPhase 31359
23Adrenergic AgentsPhase 35140
24Adrenergic alpha-AgonistsPhase 31625
25Adrenergic AgonistsPhase 32877
26CoagulantsPhase 31428
27Autonomic AgentsPhase 39774
28Antihypertensive AgentsPhase 34095
29
Vitamin Eapproved, nutraceutical, vet_approvedPhase 240659-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-TRIMETHYLTRIDECYL]CHROMAN-6-OL
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'R)-α-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
5,7,8-trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
30TocotrienolsPhase 2402
31Trace ElementsPhase 25802
32UbiquinonePhase 2139
33Tocotrienol, alphaPhase 25
34MicronutrientsPhase 25802
35TocopherolsPhase 2406
36TocotrienolNutraceuticalPhase 2402
37TocopherolNutraceuticalPhase 2406
38
Clonazepamapproved, illicitEarly Phase 1311622-61-32802
Synonyms:
1,3-Dihydro-5-(o-chlorophenyl)-7-nitro-3H-1,4-benzodiazepin-2-one
1,3-Dihydro-7-nitro-5-(2-chlorophenyl)-2H-1,4.benzodiazepin-2-one
1,3-dihydro-7-Nitro-5-(2-chlorophenyl)-2H-1,4.benzodiazepin-2-one
106955-87-7
1622-61-3
5-(2-Chloro-phenyl)-7-nitro-1,3-dihydro-benzo[e][1,4]diazepin-2-one
5-(2-Chlorophenyl)-1,3-dihydro-7-nitro-2H-1,4-benzodiazepin-2-one
5-(2-Chlorophenyl)-7-nitro-1,3-dihydro-2H-1,4-benzodiazepin-2-one
5-(2-Chlorophenyl)-7-nitro-1H-benzo[e][1,4]diazepin-2(3H)-one
5-(2-Chlorophenyl)-7-nitro-3H-1,4-benzodiazepin-2(1H)-one
5-(2-chlorophenyl)-7-nitro-1,3-dihydro-1,4-benzodiazepin-2-one
5-(O-Chlorophenyl)-7-nitro-1,3-dihydro-2H-1,4-benzodiazepin-2-one
5-(o-Chlorophenyl)-1,3-dihydro-7-nitro-2H-1,4-benzodiazepin-2-one
5-(o-Chlorophenyl)-7-nitro-1H-1,4-benzodiazepin-2(3H)-one
5-(o-chlorophenyl)-7-nitro-1,3-dihydro-2H-1,4-benzodiazepin-2-one
5-24-04-00351 (Beilstein Handbook Reference)
7-Nitro-5-(2-chlorophenyl)-3H-1,4-benzodiazepin-2(1H)-one
AC-15733
AC1L1EI2
Alti-Clonazepam
Antelepsin
Antilepsin
BAS 00308658
BIDD:PXR0144
BRN 0759557
C1277_SIGMA
C15H10ClN3O3
CHEBI:3756
CHEMBL452
CID2802
CLONAZEPAM
Chlonazepam
Cloazepam
Clonazepam (JP15/USP/INN)
Clonazepam [USAN:INN:BAN:JAN]
Clonazepamum
Clonazepamum [INN-Latin]
Clonex
Clonopin
D00280
D002998
DB01068
DEA No. 2737
 
DF2374250
DivK1c_000973
EINECS 216-596-2
HMS2093H22
HMS503C07
HSDB 3265
I14-1364
IDI1_000973
Iktorivil
Jsp003251
KBio1_000973
Kenoket
Klonopin
Klonopin (TN)
Klonopin Rapidly Disintegrating
LS-34156
LS-34260
Landsen
Lktorivil
Lonazep
Melzap
MolPort-001-729-088
NINDS_000973
NIOSH/DF2374250
NSC 179913
NSC179913
Oprea1_168772
Paxam
RO4023
Ravotril
Rivatril
Rivoril
Rivotril
Ro 4-8180
Ro 4023
Ro 5-4023
Ro 5-4023/B-7
Ro 54023
Ro-5-4023
Solfidin
UNII-5PE9FDE8GB
WLN: T67 GMV JN IHJ CNW KR BG
ZINC03813003
clonazepam
39
Tolnaftateapproved, vet_approvedEarly Phase 1132398-96-15510
Synonyms:
2-Naphthyl N-methyl-N-(3-tolyl)thionocarbamate
2398-96-1
94256-64-1
AB00052111
AC-5548
AC1L1KI4
AKOS005111014
Aftate
Aftate for Athlete'S Foot Gel
Aftate for Jock Itch Aerosol Spray Powder
Aftate for Jock Itch Gel
Aftate for Jock Itch Sprinkle Powder
Aftate for athlete's foot aerosol spray liquid
Aftate for athlete's foot aerosol spray powder
Aftate for athlete's foot gel
Aftate for athlete's foot sprinkle powder
Aftate for jock itch aerosol spray powder
Aftate for jock itch gel
Aftate for jock itch sprinkle powder
BPBio1_000285
BRD-K44273375-001-04-5
BRN 2752620
BSPBio_000259
Bioglan Brand of Tolnaftate
Breezee
C19H17NOS
CAS-2398-96-1
CHEMBL83668
CID5510
Carbamothioic acid, N-methyl-N-(3-methylphenyl)-, O-2-naphthalenyl ester
Carbamothioic acid, methyl(3-methylphenyl)-, O-2-naphthalenyl ester
Carbanilic acid, N,m-dimethylthio-, O-2-naphthyl ester
Carbanilic acid, m,N-dimethylthio-, O-2-naphthyl ester
Carter Wallace Brand of Tolnaftate
Chinofungin
Chinosol Brand of Tolnaftate
D00381
D014047
DB00525
Dermoxin
DivK1c_000334
Douglas Brand of Tolnaftate
Dr. Scholl'S Athlete'S Foot Spray
Dr. Scholl's athlete's foot spray
Dungistop
EINECS 219-266-6
Essex Brand of Tolnaftate
Focusan
Fungistop
Genaspor
Genaspore Cream
Genaspore cream
HI-Alazin
HMS1568M21
HMS1921E21
HMS2092O05
HMS501A16
Hi-Alarzin
Hi-alarzin
Hi-alazin
IDI1_000334
Insight Brand of Tolnaftate
Isdin Brand of Tolnaftate
KBio1_000334
KBio2_001443
KBio2_004011
KBio2_006579
KBioGR_000799
KBioSS_001443
LS-51199
MLS000028526
MLS001146910
Methyl (3-methylphenyl)carbamothioic acid O-2-naphthalenyl ester
Methyl-(3-methylphenyl)carbamothioic acid O-2-naphthyl ester
Methyl-[3-methylphenyl]-carbamothioic acid O-2-naphthyl ester
Micoisdin
MolPort-002-893-958
N-Methyl-(3-methylphenyl)-carbamothioic acid, O-2-naphthalenyl ester
N-Methyl-N-(3-methylphenyl)-1-(naphthalen-2-yloxy)methanethioamide
NCGC00016610-01
NCGC00016610-02
NCGC00023506-03
NINDS_000334
NP 27
NP-27 Cream
NP-27 Powder
NP-27 Solution
NP-27 Spray Powder
NP27
NSC 233648
NSC233648
Naphthiomate T
Naphthiomate-T
O-2-Naphthyl N,N-dimethylthiocarbanilate
O-2-Naphthyl m,N-dimethylthiocarbanilate
O-naphthalen-2-yl N-methyl-N-(3-methylphenyl)carbamothioate
O-naphthalen-2-yl methyl(3-methylphenyl)carbamothioate
Ony Clear
Ony-Clear
Pedinol Brand 1 of Tolnaftate
 
Pedinol Brand 2 of Tolnaftate
Phytoderm
Pitrex
Pitrex Cream
Pitrex cream
Prestwick0_000070
Prestwick1_000070
Prestwick2_000070
Prestwick3_000070
Prestwick_472
Purder N, Tolnaftat
SMR000058288
SPBio_000920
SPBio_002180
SPECTRUM1500583
ST51015151
STL069548
Sch 10144
Schering Brand of Tolnaftate
Schering-Plough Brand 1 of Tolnaftate
Schering-Plough Brand 2 of Tolnaftate
Separin
Separin (TN)
Sorgoa
Spectrum2_000950
Spectrum4_000360
Spectrum5_001000
Spectrum_000963
Sporiline
Stiefel Brand of Tolnaftate
T6638_SIGMA
Thompson Brand of Tolnaftate
Timoped
Tinactin
Tinactin (TN)
Tinactin Aerosol Liquid
Tinactin Aerosol Powder
Tinactin Antifungal Deodorant Powder Aerosol
Tinactin Cream
Tinactin Jock Itch Aerosol Powder
Tinactin Jock Itch Cream
Tinactin Jock Itch Spray Powder
Tinactin Plus Aerosol Powder
Tinactin Plus Powder
Tinactin Powder
Tinactin Solution
Tinactin aerosol liquid
Tinactin aerosol powder
Tinactin antifungal deodorant powder aerosol
Tinactin cream
Tinactin jock itch aerosol powder
Tinactin jock itch cream
Tinactin jock itch spray powder
Tinactin plus aerosol powder
Tinactin plus powder
Tinactin powder
Tinactin solution
Tinaderm
Tinatox
Tinavet
Tinavet (Veterinary)
Ting
Ting Antifungal Cream
Ting Antifungal Powder
Ting Antifungal Spray Liquid
Ting Antifungal Spray Powder
Ting Products
Ting antifungal cream
Ting antifungal powder
Ting antifungal spray liquid
Ting antifungal spray powder
Tniaderm
Tolnaftat Purder N
Tolnaftate
Tolnaftate (JP14/USP)
Tolnaftate (JP15/USP)
Tolnaftate (JP15/USP/INN)
Tolnaftate Douglas Brand
Tolnaftate Schering Brand
Tolnaftate [USAN:BAN:INN:JAN]
Tolnaftate [USAN:INN:BAN:JAN]
Tolnaftate(USAN)
Tolnaftato
Tolnaftato [DCIT]
Tolnaftato [INN-Spanish]
Tolnaftatum
Tolnaftatum [INN-Latin]
Tolnaphthate
Tolsanil
Tonoftal
Tritin
UNII-06KB629TKV
Wernigerode Brand of Tolnaftate
ZINC00057522
ZeaSorb
Zeasorb-AF
Zeasorb-AF Powder
Zeasorb-AF powder
Zenith Brand of Tolnaftate
m,N-Dimethylthiocarbanilic acid O-2-naphthyl ester
o-(2-Naphthyl) methyl(3-methylphenyl)thiocarbamate
tolnaftate
40
Pancrelipaseapproved93553608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
41pancreatin935
42GABA ModulatorsEarly Phase 1864
43GABA AgentsEarly Phase 11622
44AnticonvulsantsEarly Phase 12620

Interventional clinical trials:

(show all 16)
idNameStatusNCT IDPhase
1Response of Individuals With Ataxia-Telangiectasia to Metformin and PioglitazoneRecruitingNCT02733679Phase 4
2A Study of the Pharmacokinetics and Antiviral Activity of Dolutegravir in the Central Nervous System in HIV-1 Infected ART-naive SubjectsCompletedNCT01499199Phase 3
3Hypertonic Saline and Terlipressin for Sepsis-associated HypotensionTerminatedNCT01271114Phase 3
4Phase 2 Study of EPI-743 in Children With Pearson SyndromeTerminatedNCT02104336Phase 2
5Accuracy of Urinary NGAL in Predicting CardioRenal Syndrome in Acute Heart Failure at Emergency - CYNDERELA-HF StudyUnknown statusNCT01364636
6Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to TreatmentCompletedNCT00499070
7Acupuncture Versus Clonazepam in Burning Mouth SyndromeCompletedNCT02382029Early Phase 1
8ESS as a Diagnosis Resource Aid of the Syndrome of Obstructive Sleep ApneaCompletedNCT00989885
9Longitudinal Study of HAART, Social Networks, & AdherenceCompletedNCT00272220
10Cancer in Inherited Bone Marrow Failure SyndromesRecruitingNCT00027274
11In-line Filtration to Reduce Systemic Inflammatory Response Syndrome in Babies Born Very prEtErmRecruitingNCT02686060
12North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)RecruitingNCT01694940
13Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis ImplantationActive, not recruitingNCT02945176
14Natural History of Pearson SyndromeEnrolling by invitationNCT02327364
15Effect of Critical Patients Mobilization on Respiratory and Peripheral Muscle Strength and Functional Capacity.Not yet recruitingNCT02919085
16STOPBANG As A Screening Tool for Obstructive Sleep Apnoea in PregnancyNot yet recruitingNCT02542488

Search NIH Clinical Center for Pearson Syndrome

Genetic Tests for Pearson Syndrome

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Genetic tests related to Pearson Syndrome:

id Genetic test Affiliating Genes
1 Pearson Syndrome24

Anatomical Context for Pearson Syndrome

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MalaCards organs/tissues related to Pearson Syndrome:

36
Pancreas, Heart, Bone, Bone marrow, Endothelial, Liver, Skin

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Pearson Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 PancreasPancreatic AciniAcinar Cells Affected by disease

Publications for Pearson Syndrome

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Articles related to Pearson Syndrome:

(show top 50)    (show all 52)
idTitleAuthorsYear
1
Fusarium Osteomyelitis in a Patient With Pearson Syndrome: Case Report and Review of the Literature. (27757410)
2016
2
A novel mitochondrial DNA deletion in a patient with Pearson syndrome and neonatal diabetes mellitus provides insight into disease etiology, severity and progression. (26016877)
2015
3
A Novel Mitochondrial DNA Deletion in a Patient with Pearson Syndrome and Neonatal Diabetes Mellitus Provides Insight into Disease Etiology, Severity and Progression. (26518169)
2015
4
Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica). (26238250)
2015
5
Biochemical abnormalities in Pearson syndrome. (25691415)
2015
6
Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: a case report. (25543536)
2015
7
Granulocyte colony stimulating factor for treatment of neutropenia-associated infection in Pearson syndrome. (24633981)
2014
8
Pearson syndrome in a Diamond-Blackfan anemia cohort. (25035146)
2014
9
Corneal endothelial dysfunction in Pearson syndrome. (21936618)
2013
10
Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency. (22424738)
2012
11
A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions. (21741369)
2011
12
Clinical manifestations and management of four children with Pearson syndrome. (22012855)
2011
13
Celiac disease in siblings with Pearson syndrome. (20228667)
2010
14
Early neurological impairment and severe anemia in a newborn with Pearson syndrome. (18553104)
2009
15
Pearson syndrome in the neonatal period: two case reports and review of the literature. (19881395)
2009
16
Transient corneal edema and left hemisphere dysfunction in pearson syndrome. (19491648)
2009
17
Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome. (19026771)
2009
18
Cutaneous zygomycosis in an infant with Pearson syndrome. (17914738)
2008
19
Pearson syndrome associated with hemophagocytic syndrome in a child. (27264153)
2008
20
Two new cases with Pearson syndrome and review of Hacettepe experience. (19227422)
2008
21
Pearson syndrome in an infant heterozygous for C282Y allele of HFE gene. (17852457)
2007
22
The neurological evolution of Pearson syndrome: case report and literature review. (17434771)
2007
23
Parafoveolar intraretinal crystals in pearson syndrome. (25390989)
2007
24
A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate. (16435219)
2005
25
Co-existing point mutations of mitochondrial DNA in a patient with a heart abnormality and Pearson syndrome-like symptoms. (16278899)
2005
26
Pearson syndrome and the role of deletion dimers and duplications in the mtDNA. (14970745)
2004
27
Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNA. (14663277)
2003
28
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome. (12152148)
2002
29
Clinical implications of duplicated mtDNA in Pearson syndrome. (11169556)
2001
30
Clinical heterogeneity in mitochondrial DNA deletion disorders: a diagnostic challenge of Pearson syndrome. (11102933)
2000
31
Early onset of complete heart block in Pearson syndrome. (11117437)
2000
32
Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome. (10030587)
1999
33
Invasive aspergillosis in two patients with Pearson syndrome. (10462353)
1999
34
Fatal acidosis in a neonate with Pearson syndrome. (10770098)
1999
35
Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome. (9467460)
1998
36
Schwachman or Pearson syndrome. (9495386)
1998
37
Detection of mtDNA deletion in Pearson syndrome by two independent PCR assays from Guthrie card. (9630077)
1998
38
The association between haematological manifestation and mtDNA deletions in Pearson syndrome. (9323565)
1997
39
Severe lactic acidosis and neonatal death in Pearson syndrome. (9061566)
1997
40
Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion. (8909450)
1996
41
A case of Pearson syndrome associated with multiple renal cysts. (8897573)
1996
42
Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson syndrome. (7541513)
1995
43
A novel mtDNA deletion in an infant with Pearson syndrome. (7837757)
1994
44
Deletion of the mitochondrial DNA in a case of de Toni-DebrAc-Fanconi syndrome and Pearson syndrome. (8018492)
1994
45
3-Methylglutaconic aciduria in a patient with Pearson syndrome. (8482296)
1993
46
Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities. (7609446)
1993
47
Detection of extremely low levels of wild-type mitochondrial DNA in the liver of a patient with Pearson syndrome by a sensitive PCR assay. (1405463)
1992
48
Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome. (1405465)
1992
49
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. (1447663)
1992
50
Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. (1985462)
1991

Variations for Pearson Syndrome

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Clinvar genetic disease variations for Pearson Syndrome:

5 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1ACADVLACADVL, 105-BP DELundetermined variantPathogenicChr na, -1: -1
2ACADVLNM_000018.3(ACADVL): c.1078_1182del105SNVLikely pathogenic, Pathogenicrs113690956GRCh37Chr 17, 7126557: 7126557
3ACADVLNM_000018.3(ACADVL): c.1837C> T (p.Arg613Trp)SNVLikely pathogenic, Pathogenicrs118204014GRCh37Chr 17, 7128285: 7128285
4ACADVLNM_000018.3(ACADVL): c.343delG (p.Glu115Lysfs)deletionLikely pathogenic, Pathogenicrs387906249GRCh37Chr 17, 7124243: 7124243
5ACADVLNM_000018.3(ACADVL): c.388_390delGAG (p.Glu130del)deletionLikely pathogenic, Pathogenicrs387906251GRCh37Chr 17, 7124288: 7124290
6ACADVLNM_000018.3(ACADVL): c.1144A> C (p.Lys382Gln)SNVPathogenicrs118204015GRCh37Chr 17, 7126518: 7126518
7ACADVLNM_000018.3(ACADVL): c.1372T> C (p.Phe458Leu)SNVPathogenicrs118204017GRCh37Chr 17, 7127326: 7127326
8ACADVLNM_000018.3(ACADVL): c.1246G> A (p.Ala416Thr)SNVPathogenicrs118204018GRCh37Chr 17, 7127026: 7127026
9ACADVLNM_000018.3(ACADVL): c.1349G> A (p.Arg450His)SNVLikely pathogenic, Pathogenicrs118204016GRCh37Chr 17, 7127303: 7127303
10ACADVLNM_000018.3(ACADVL): c.65C> A (p.Ser22Ter)SNVPathogenicrs727503788GRCh37Chr 17, 7123443: 7123443
11ACADVLNM_000018.3(ACADVL): c.1532+1G> ASNVPathogenicrs727503794GRCh37Chr 17, 7127563: 7127563
12ACADVLNM_000018.3(ACADVL): c.887_888delCT (p.Pro296Argfs)deletionLikely pathogenic, Pathogenicrs753108198GRCh38Chr 17, 7222675: 7222676
13ACADVLNM_000018.3(ACADVL): c.298_299delCA (p.Gln100Valfs)deletionLikely pathogenic, Pathogenicrs786204713GRCh37Chr 17, 7124105: 7124106
14ACADVLNM_000018.3(ACADVL): c.1357C> T (p.Arg453Ter)SNVLikely pathogenic, Pathogenicrs794727113GRCh37Chr 17, 7127311: 7127311
15ACADVLNM_000018.3(ACADVL): c.1844G> A (p.Arg615Gln)SNVLikely pathogenic, Pathogenicrs148584617GRCh37Chr 17, 7128292: 7128292
16ACADVLNM_000018.3(ACADVL): c.637G> A (p.Ala213Thr)SNVLikely pathogenic, Pathogenicrs140629318GRCh37Chr 17, 7125285: 7125285
17ACADVLNM_000018.3(ACADVL): c.1226C> T (p.Thr409Met)SNVPathogenicrs113994169GRCh37Chr 17, 7127006: 7127006
18ACADVLNM_000018.3(ACADVL): c.1322G> A (p.Gly441Asp)SNVPathogenicrs2309689GRCh37Chr 17, 7127184: 7127184
19ACADVLNM_000018.3(ACADVL): c.1405C> T (p.Arg469Trp)SNVLikely pathogenic, Pathogenicrs113994170GRCh37Chr 17, 7127359: 7127359
20ACADVLNM_000018.3(ACADVL): c.1679-6G> ASNVLikely pathogenic, Pathogenicrs113994171GRCh37Chr 17, 7127955: 7127955
21ACADVLNM_000018.3(ACADVL): c.779C> T (p.Thr260Met)SNVLikely pathogenic, Pathogenicrs113994168GRCh37Chr 17, 7125522: 7125522
22ACADVLNM_000018.3(ACADVL): c.848T> C (p.Val283Ala)SNVPathogenicrs113994167GRCh37Chr 17, 7125591: 7125591
23ACADVLNM_000018.3(ACADVL): c.869dupG (p.Ile291Hisfs)duplicationPathogenicrs886044671GRCh37Chr 17, 7125612: 7125612
24ACADVLNM_000018.3(ACADVL): c.1389dupG (p.Thr464Aspfs)duplicationPathogenicrs398123082GRCh37Chr 17, 7127343: 7127343
25ACADVLNM_000018.3(ACADVL): c.1406G> A (p.Arg469Gln)SNVLikely pathogenic, Pathogenicrs398123083GRCh37Chr 17, 7127360: 7127360
26ACADVLNM_000018.3(ACADVL): c.520G> A (p.Val174Met)SNVLikely pathogenic, Pathogenicrs369560930GRCh37Chr 17, 7124899: 7124899
27ACADVLNM_000018.3(ACADVL): c.753-2A> CSNVPathogenicrs398123092GRCh37Chr 17, 7125494: 7125494
28ACADVLNM_000018.3(ACADVL): c.896_898delAGA (p.Lys299del)deletionLikely pathogenic, Pathogenicrs387906252GRCh37Chr 17, 7126003: 7126005

Expression for genes affiliated with Pearson Syndrome

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Search GEO for disease gene expression data for Pearson Syndrome.

Pathways for genes affiliated with Pearson Syndrome

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GO Terms for genes affiliated with Pearson Syndrome

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Cellular components related to Pearson Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:00057439.5ACADVL, ALAS2, SLC25A38
2mitochondrial matrixGO:00057599.3ACADVL, ALAS2, PUS1
3mitochondrionGO:00057398.1ACADVL, ALAS2, CRYAB, PUS1

Biological processes related to Pearson Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1erythrocyte differentiationGO:00302189.7ALAS2, SLC25A38
2heme biosynthetic processGO:00067839.7ALAS2, SLC25A38
3response to hypoxiaGO:00016669.1ALAS2, CRYAB

Sources for Pearson Syndrome

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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