MCID: PRS023
MIFTS: 39

Pearson Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Metabolic diseases, Endocrine diseases, Blood diseases, Immune diseases

Aliases & Classifications for Pearson Syndrome

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Aliases & Descriptions for Pearson Syndrome:

Name: Pearson Syndrome 32 10 45 22 23 12 51
Pearson Marrow-Pancreas Syndrome 10 45 23
Pearson's Syndrome 45 24
Sideroblastic Anemia with Marrow Cell Vacuolization and Exocrine Pancreatic Dysfunction 45
Sideroblastic Anemia W/marrow Cell Vacuolization & Exocrine Pancreatic Dysfunction 22
 
Very Long Chain Acyl-Coa Dehydrogenase Deficiency 65
Pearson's Marrow/pancreas Syndrome 45
Pearson's Marrow-Pancreas Syndrome 65
Pearson Marrow Pancreas Syndrome 22

Characteristics:

Orphanet epidemiological data:

51
pearson syndrome:
Inheritance: Mitochondrial inheritance,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology10 DOID:0060067
Orphanet51 699
ICD10 via Orphanet28 D64.0
UMLS via Orphanet66 C0342773
UMLS65 C0342784, C3887523

Summaries for Pearson Syndrome

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NIH Rare Diseases:45 Pearson syndrome is a mitochondrial disorder characterized by transfusion-dependent sideroblastic anemia and pancreatic dysfunction resulting in in malabsorption and chronic diarrhea. the features of this progressive disorder may change over time. individuals who survive beyond infancy often develop the symptoms of kearns-sayre syndrome or leigh syndrome. pearson syndrome is caused by deletions in mitochondrial dna. inheritance is usually sporadic.   last updated: 11/21/2011

MalaCards based summary: Pearson Syndrome, also known as pearson marrow-pancreas syndrome, is related to hepatitis and congenital diaphragmatic hernia, and has symptoms including abnormal pigmentary skin changes/skin pigmentation anomalies, malabsorption/chronic diarrhea/steatorrhea and storage liver disease. An important gene associated with Pearson Syndrome is SLC25A38 (Solute Carrier Family 25 Member 38). Affiliated tissues include pancreas, bone and bone marrow.

Disease Ontology:10 A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.

Genetics Home Reference:23 Pearson marrow-pancreas syndrome is a severe disorder that usually begins in infancy. It causes problems with the development of blood-forming (hematopoietic) cells in the bone marrow that have the potential to develop into different types of blood cells. For this reason, Pearson marrow-pancreas syndrome is considered a bone marrow failure disorder. Function of the pancreas and other organs can also be affected.

Wikipedia:68 Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas... more...

Related Diseases for Pearson Syndrome

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Diseases related to Pearson Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis10.4
2congenital diaphragmatic hernia10.3
3systemic lupus erythematosus10.1
4breast cancer10.1
5myelodysplastic syndrome10.1
6aplastic anemia10.1
7cleft palate with ankyloglossia10.1
8abruzzo-erickson syndrome10.1
9atherosclerosis10.1
10leukemia10.1
11liver cirrhosis10.1
12polycystic ovary syndrome10.1
13lymphoblastic leukemia10.1
14exotropia10.1
15esophagitis10.1
16uveitis10.1
17hepatic encephalopathy10.1
18generalized anxiety disorder10.1
19dracunculiasis10.1
20anxiety disorder10.1
21hidradenitis suppurativa10.1
22hidradenitis10.1
23cervicitis10.1
24antiphospholipid syndrome10.1
25adenocarcinoma10.1
26neurilemmoma10.1
27tibial adamantinoma10.1
28adenoma10.1
29hepatoblastoma10.1
30neuronitis10.1
31duodenitis10.1
32lupus erythematosus10.1
33bacterial meningitis10.1
34meningitis10.1
35dacryocystitis10.1
36adenomyosis10.1
37catastrophic antiphospholipid syndrome10.1
38central serous chorioretinopathy10.1
39nonalcoholic steatohepatitis10.1
40back pain10.1
41encephalopathy10.1
42myotonia10.1
43postherpetic neuralgia10.1
44endotheliitis10.1
45anemia, sideroblastic, pyridoxine-refractory, autosomal recessive9.9GLRX5, SLC25A38
46atransferrinemia9.8ABCB7, ALAS2
47congenital myopathy9.7PUS1, TRMU
48protoporphyria, erythropoietic, x-linked9.6ABCB7, ALAS2, SLC25A38
49cowpox9.1ABCB7, ALAS2, GLRX5, PUS1, SLC25A38
50pemphigus foliaceus8.3ABCB7, ALAS2, CRYAB, GLRX5, PUS1, SLC25A38

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



Diseases related to pearson syndrome

Symptoms for Pearson Syndrome

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Symptoms:

 51 (show all 14)
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • malabsorption/chronic diarrhea/steatorrhea
  • storage liver disease
  • structural anomalies of the pancreas
  • anomaly of pancreatic hormones
  • insulin-dependent/type 1 diabetes
  • hypotonia
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • delayed bone age
  • anaemia
  • hemoglobinosis/hemoglobinopathy
  • organic acid metabolism anomalies
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intrauterine growth retardation

Drugs & Therapeutics for Pearson Syndrome

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

(show all 35)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Pioglitazoneapproved, investigationalPhase 4419111025-46-84829
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
2
MetforminapprovedPhase 41645657-24-9, 1115-70-414219, 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
DMBG
DMGG
Diabefagos
Diabetosan
Diabex
Diaformin
Dianben
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
Meguan
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin Hydrochloride
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
Obimet
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
3Hypoglycemic AgentsPhase 44503
4
DolutegravirapprovedPhase 31231051375-16-6
Synonyms:
 
Dolutegravir Sodium
Tivicay
5
Abacavirapproved, investigationalPhase 3203136470-78-565140, 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
Abacavir (INN)
Abacavir Sulfate
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
6
Lamivudineapproved, investigationalPhase 3594134678-17-460825
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
3-TC
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 HBV
Epivir(TM)
Epivir-HBV
Epzicom
FT-0082667
GG-714
GR 109714 X
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
7
Terlipressinapproved, investigationalPhase 34714636-12-572081
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
SID124896640
Terlipressin
Terlipressin [BAN:INN]
Terlipressina
Terlipressina [INN-Spanish]
Terlipressine
Terlipressine [INN-French]
Terlipressinum
Terlipressinum [INN-Latin]
UNII-7Z5X49W53P
glypressin
8
NorepinephrineapprovedPhase 359551-41-2439260
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
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
9Neurotransmitter AgentsPhase 3, Phase 014795
10HIV Integrase InhibitorsPhase 3343
11Anti-Retroviral AgentsPhase 32794
12Integrase InhibitorsPhase 3370
13Antiviral AgentsPhase 38071
14Anti-Infective AgentsPhase 317220
15Natriuretic AgentsPhase 31403
16Peripheral Nervous System AgentsPhase 318510
17Vasoconstrictor AgentsPhase 31303
18LypressinPhase 333
19Adrenergic AgentsPhase 34204
20HemostaticsPhase 31082
21Adrenergic alpha-AgonistsPhase 31300
22Adrenergic AgonistsPhase 32331
23Antihypertensive AgentsPhase 33618
24CoagulantsPhase 31042
25
Vitamin Eapproved, nutraceuticalPhase 237159-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-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)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
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
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
26Tocotrienol, alphaPhase 25
27TocotrienolsPhase 2372
28TocopherolsPhase 2376
29TocotrienolNutraceuticalPhase 2372
30TocopherolNutraceuticalPhase 2376
31
Clonazepamapproved, illicitPhase 0261622-61-32802
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
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
32
Pancrelipaseapproved88053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
33GABA ModulatorsPhase 0657
34pancreatin880
35AnticonvulsantsPhase 02249

Interventional clinical trials:

(show all 14)
idNameStatusNCT IDPhase
1Response of Individuals With Ataxia-Telangiectasia to Metformin and PioglitazoneNot yet recruitingNCT02733679Phase 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
5Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to TreatmentCompletedNCT00499070
6Acupuncture Versus Clonazepam in Burning Mouth SyndromeCompletedNCT02382029Phase 0
7ESS as a Diagnosis Resource Aid of the Syndrome of Obstructive Sleep ApneaCompletedNCT00989885
8Longitudinal Study of HAART, Social Networks, & AdherenceCompletedNCT00272220
9Cancer in Inherited Bone Marrow Failure SyndromesRecruitingNCT00027274
10Accuracy of Urinary NGAL in Predicting CardioRenal Syndrome in Acute Heart Failure at Emergency - CYNDERELA-HF StudyRecruitingNCT01364636
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
13Natural History of Pearson SyndromeEnrolling by invitationNCT02327364
14STOPBANG 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 Syndrome22

Anatomical Context for Pearson Syndrome

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MalaCards organs/tissues related to Pearson Syndrome:

33
Pancreas, Bone, Bone marrow, Skin, Heart, Liver, Eye

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

Animal Models for Pearson Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Pearson Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Pearson Syndrome

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Articles related to Pearson Syndrome:

(show all 50)
idTitleAuthorsYear
1
Performance of hearing skills in children with auditory neuropathy spectrum disorder using cochlear implant: a systematic review. (25458263)
2015
2
Infrequent DNA methylation of miR-9-1 and miR-9-3 in multiple myeloma. (25855800)
2015
3
Additional techniques for diagnosing scabies. (23668442)
2013
4
Two cases of methimazole-induced insulin autoimmune syndrome in graves' disease. (24396652)
2013
5
The use of Gamma Knife stereotactic radiosurgery in the treatment of ameloblastic carcinoma. (23726272)
2013
6
The competent isolated double orifice mitral valve: an incidental finding during excision of a papillary fibroelastoma. (22943219)
2012
7
Long-term expression and safety of administration of AAVrh.10hCLN2 to the brain of rats and nonhuman primates for the treatment of late infantile neuronal ceroid lipofuscinosis. (23131032)
2012
8
High-frequency oscillatory ventilation with and without arteriovenous extracorporeal lung assist in patients with severe respiratory failure. (22033057)
2012
9
Improving risk models for avian influenza: the role of intensive poultry farming and flooded land during the 2004 Thailand epidemic. (23185352)
2012
10
Unusual paraneoplastic syndromes of breast carcinoma: a combination of cerebellar degeneration and Lambert-Eaton Myasthenic Syndrome. (19005633)
2011
11
Effects of age, genes, and pulse pressure on executive functions in healthy adults. (19559505)
2011
12
The SI strain of measles virus derived from a patient with subacute sclerosing panencephalitis possesses typical genome alterations and unique amino acid changes that modulate receptor specificity and reduce membrane fusion activity. (21917959)
2011
13
Preliminary observations of increased diffusional kurtosis in human brain following recent cerebral infarction. (20960579)
2011
14
Expression of Hsp27 and Hsp70 in lymphocytes and plasma in healthy workers and coal miners with lung cancer. (20714862)
2010
15
Roles of db-cAMP, IBMX and RA in aspects of neural differentiation of cord blood derived mesenchymal-like stem cells. (20195526)
2010
16
Cux1 transcription factor is induced in inflammatory bowel disease and protects against experimental colitis. (20848487)
2010
17
Association of rs2781666 G/T polymorphism of arginase I gene with myocardial infarction in Tunisian male population. (19896478)
2010
18
Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome. (21059199)
2010
19
Lung cancer susceptibility and prognosis associated with polymorphisms in the nonhomologous end-joining pathway genes: a multiple genotype-phenotype study. (19408343)
2009
20
Hedgehog signaling pathway and its impact on development of cancer therapy]. (18788453)
2008
21
Genetic screening of the LPL gene in hypertriglyceridaemic patients. (18068174)
2008
22
Retrogenic modeling of experimental allergic encephalomyelitis associates T cell frequency but not TCR functional affinity with pathogenicity. (18566378)
2008
23
Spatial and temporal expression of POF1B, a gene expressed in epithelia. (17123869)
2007
24
Zoledronic acid inhibits the function of Toll-like receptor 4 ligand activated monocyte-derived dendritic cells. (17301819)
2007
25
The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa. (17982421)
2007
26
Human orf complicated by mucous membrane pemphigoid. (16901317)
2006
27
Cytokine responses in gnotobiotic pigs after infection with virulent or attenuated human rotavirus. (16352562)
2006
28
Evaluation of the Developmental Coordination Disorder Questionnaire as a screening instrument. (16836779)
2006
29
Selective COX-2 inhibitors. Part 1: synthesis and biological evaluation of phenylazobenzenesulfonamides. (16814546)
2006
30
Increased calcium and decreased magnesium concentrations and an increased calcium/magnesium ratio in spontaneously hypertensive rats versus Wistar-Kyoto rats: relation to arteriosclerosis. (14700514)
2004
31
Linkage between cryptorchidism, hypospadias, and GGN repeat length in the androgen receptor gene. (15472213)
2004
32
Combating atherosclerosis with LXR alpha and PPAR alpha agonists: is rational multitargeted polypharmacy the future of therapeutics in complex diseases? (15471908)
2004
33
Cardiorespiratory effects of added dead space in patients with heart failure and central sleep apnea. (12740273)
2003
34
The analysis of BRCA1 mutations in eastern Chinese patients with early onset breast cancer and affected relatives. (12815604)
2003
35
A novel connexin 26 compound heterozygous mutation results in deafness. (12169891)
2002
36
Deficiency in the repair of UV-induced DNA damage in human skin fibroblasts compromised for the ATM gene. (12376469)
2002
37
Tryptophan hydroxylase gene variant and smoking behavior. (11496367)
2001
38
A case of localized persistent interstitial pulmonary emphysema. (11306752)
2001
39
The six hyaluronidase-like genes in the human and mouse genomes. (11731267)
2001
40
Cell-cycle-dependent activation of mitogen-activated protein kinase kinase (MEK-1/2) in myeloid leukemia cell lines and induction of growth inhibition and apoptosis by inhibitors of RAS signaling. (11238126)
2001
41
Comparison of tests for association and linkage in incomplete families. (10841813)
2000
42
Regulation of chemokine-induced transendothelial migration of T lymphocytes by endothelial activation: differential effects on naive and memory T cells. (10857855)
2000
43
Dual posttranscriptional targets of retinoic acid-induced gene expression. (10022522)
1999
44
Hypertension and diabetes mellitus--pathophysiology and risk]. (10951857)
1999
45
An antisense EGFR oligodeoxynucleotide enveloped in Lipofectin induces growth inhibition in human malignant gliomas in vitro. (9821109)
1998
46
Identification and pharmacological characterization of [125I]L-750,667, a novel radioligand for the dopamine D4 receptor. (8967990)
1996
47
Decreased contact factor mediated fibrinolysis in cirrhosis. (8136276)
1993
48
Stereospecificity of hydrogen transfer between progesterone and cofactor by human placental estradiol-17 beta dehydrogenase. (2146972)
1990
49
Pigmented villonodular synovitis. A retrospective review of affected large joints. (2791393)
1989
50
The Dandy-Walker syndrome. A report of three cases. (13752182)
1961

Variations for Pearson Syndrome

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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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Sources for Pearson Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet