MCID: PRS023
MIFTS: 43

Pearson Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Metabolic diseases, Endocrine diseases, Blood diseases, Immune diseases categories

Aliases & Classifications for Pearson Syndrome

About this section
Sources:
32LifeMap Discovery®, 10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Pearson Syndrome:

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

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

Summaries for Pearson Syndrome

About this section
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 anemia, sideroblastic, pyridoxine-refractory, autosomal recessive and pancytopenia, 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 MT-TK (Mitochondrially Encoded TRNA Lysine). 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

About this section

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

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1anemia, sideroblastic, pyridoxine-refractory, autosomal recessive30.0GLRX5, SLC25A38
2pancytopenia10.3
3myopathy10.3
4adult syndrome10.2
5child syndrome10.2
6cataract10.2
7muscle disorders10.2
8metabolic syndrome x10.2
93-methylglutaconic aciduria10.2
10lipid metabolism disorder10.2
11mitochondrial metabolism disease10.2
12muscle tissue disease10.2
13neonatal diabetes mellitus10.2
14neuromuscular disease10.2
15pancreatitis10.2
16mitochondrial disorders10.2
17kid syndrome10.2
18mitochondrial genetic disorders10.2
19pancreatitis, hereditary10.1
20peeling skin syndrome 110.1
21celiac disease10.1
22galactosemia10.1
23aspergillosis10.1
24exfoliation syndrome10.1
25peeling skin syndrome 310.1
26deficiency anemia10.1
27diamond-blackfan anemia10.1
28neutropenia10.1
29fanconi syndrome10.1
30cleft lip10.1
31kearns-sayre syndrome10.1
32hypospadias10.1
33invasive aspergillosis10.1
34peeling skin syndrome10.1
35chronic progressive external ophthalmoplegia10.1
36corneal edema10.1
37lactic acidosis10.1
38mitochondrial encephalomyopathy10.1
39ophthalmoplegia10.1
40pancreas disease10.1
41mitochondrial dna deletion syndromes10.1
42encephalomyopathy10.1
43ocular muscular dystrophy10.1
44zygomycosis10.1
45endotheliitis10.1
46maternally-inherited progressive external ophthalmoplegia10.1
47mitochondrial dna deletion syndrome with progressive myopathy10.1
48isolated cytochrome c oxidase deficiency10.0GLRX5, SLC25A38
49mitochondrial membrane protein-associated neurodegeneration10.0MT-TK, PUS1
50microphthalmia, isolated 39.8ALAS2, PUS1

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



Diseases related to pearson syndrome

Symptoms for Pearson Syndrome

About this section

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

About this section

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

(show all 16)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Abacavirapproved, investigationalPhase 3200136470-78-565140, 441300, 441300, 65140
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
2
Lamivudineapproved, investigationalPhase 3575134678-17-460825
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
3
DolutegravirapprovedPhase 31161051375-16-6
Synonyms:
 
Dolutegravir Sodium
Tivicay
4
Terlipressinapproved, investigationalPhase 34214636-12-572081
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
5
NorepinephrineapprovedPhase 320651-41-2439260
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
6LypressinPhase 329
7CoagulantsPhase 3983
8
Vitamin Eapproved, nutraceuticalPhase 235059-02-914985
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
9Tocotrienol, alphaPhase 25
10TocopherolsPhase 2355
11TocotrienolsPhase 2352
12TocopherolNutraceuticalPhase 2355
13TocotrienolNutraceuticalPhase 2352
14
Pancrelipaseapproved83953608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
15
Clonazepamapproved, illicitPhase 0251622-61-32802
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
16pancreatin839

Interventional clinical trials:

(show all 14)
idNameStatusNCT IDPhase
1A Study of the Pharmacokinetics and Antiviral Activity of Dolutegravir in the Central Nervous System in HIV-1 Infected ART-naive SubjectsCompletedNCT01499199Phase 3
2Hypertonic Saline and Terlipressin for Sepsis-associated HypotensionTerminatedNCT01271114Phase 3
3Randomized, Open-label Phase II Trial to Assess the Safety and Immunogenicity of MVA-BN Smallpox Vaccine in Immunocompromised Subjects With HIV InfectionRecruitingNCT02038881Phase 2
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
11North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)RecruitingNCT01694940
12Natural History of Pearson SyndromeEnrolling by invitationNCT02327364
13In-line Filtration to Reduce Systemic Inflammatory Response Syndrome in Babies Born Very prEtErmNot yet recruitingNCT02686060
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

About this section

Genetic tests related to Pearson Syndrome:

id Genetic test Affiliating Genes
1 Pearson Syndrome22
2 Pearson's Syndrome24

Anatomical Context for Pearson Syndrome

About this section

MalaCards organs/tissues related to Pearson Syndrome:

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

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

About this section

MGI Mouse Phenotypes related to Pearson Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Pearson Syndrome

About this section

Articles related to Pearson Syndrome:

(show all 50)
idTitleAuthorsYear
1
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
2
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
3
Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: a case report. (25543536)
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
Pearson syndrome in a Diamond-Blackfan anemia cohort. (25035146)
2014
7
Granulocyte colony stimulating factor for treatment of neutropenia-associated infection in Pearson syndrome. (24633981)
2014
8
Corneal endothelial dysfunction in Pearson syndrome. (21936618)
2013
9
Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency. (22424738)
2012
10
Clinical manifestations and management of four children with Pearson syndrome. (22012855)
2011
11
A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions. (21741369)
2011
12
Celiac disease in siblings with Pearson syndrome. (20228667)
2010
13
Early neurological impairment and severe anemia in a newborn with Pearson syndrome. (18553104)
2009
14
Pearson syndrome in the neonatal period: two case reports and review of the literature. (19881395)
2009
15
Transient corneal edema and left hemisphere dysfunction in pearson syndrome. (19491648)
2009
16
Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome. (19026771)
2009
17
Cutaneous zygomycosis in an infant with Pearson syndrome. (17914738)
2008
18
Two new cases with Pearson syndrome and review of Hacettepe experience. (19227422)
2008
19
Pearson syndrome in an infant heterozygous for C282Y allele of HFE gene. (17852457)
2007
20
The neurological evolution of Pearson syndrome: case report and literature review. (17434771)
2007
21
Parafoveolar intraretinal crystals in pearson syndrome. (25390989)
2007
22
A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate. (16435219)
2005
23
Co-existing point mutations of mitochondrial DNA in a patient with a heart abnormality and Pearson syndrome-like symptoms. (16278899)
2005
24
Pearson syndrome and the role of deletion dimers and duplications in the mtDNA. (14970745)
2004
25
Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNA. (14663277)
2003
26
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome. (12152148)
2002
27
Clinical implications of duplicated mtDNA in Pearson syndrome. (11169556)
2001
28
Early onset of complete heart block in Pearson syndrome. (11117437)
2000
29
Clinical heterogeneity in mitochondrial DNA deletion disorders: a diagnostic challenge of Pearson syndrome. (11102933)
2000
30
Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome. (10030587)
1999
31
Invasive aspergillosis in two patients with Pearson syndrome. (10462353)
1999
32
Fatal acidosis in a neonate with Pearson syndrome. (10770098)
1999
33
Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome. (9467460)
1998
34
Schwachman or Pearson syndrome. (9495386)
1998
35
Detection of mtDNA deletion in Pearson syndrome by two independent PCR assays from Guthrie card. (9630077)
1998
36
The association between haematological manifestation and mtDNA deletions in Pearson syndrome. (9323565)
1997
37
Severe lactic acidosis and neonatal death in Pearson syndrome. (9061566)
1997
38
Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion. (8909450)
1996
39
A case of Pearson syndrome associated with multiple renal cysts. (8897573)
1996
40
Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson syndrome. (7541513)
1995
41
A novel mtDNA deletion in an infant with Pearson syndrome. (7837757)
1994
42
Deletion of the mitochondrial DNA in a case of de Toni-DebrAc-Fanconi syndrome and Pearson syndrome. (8018492)
1994
43
3-Methylglutaconic aciduria in a patient with Pearson syndrome. (8482296)
1993
44
Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities. (7609446)
1993
45
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
46
Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome. (1405465)
1992
47
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. (1447663)
1992
48
Organic aciduria in Pearson syndrome. (1915526)
1991
49
Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. (1985462)
1991
50
Juvenile Pearson syndrome. (2398232)
1990

Variations for Pearson Syndrome

About this section

Expression for genes affiliated with Pearson Syndrome

About this section
Search GEO for disease gene expression data for Pearson Syndrome.

Pathways for genes affiliated with Pearson Syndrome

About this section

GO Terms for genes affiliated with Pearson Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:00057398.1ALAS2, CRYAB, GLRX5, 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:00067839.6ALAS2, SLC25A38
3response to hypoxiaGO:00016669.0ALAS2, CRYAB

Sources for Pearson Syndrome

About this section
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