MCID: PRS023
MIFTS: 39

Pearson Syndrome malady

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

Aliases & Classifications for Pearson Syndrome

Aliases & Descriptions for Pearson Syndrome:

Name: Pearson Syndrome 38 12 50 24 14
Pearson Marrow-Pancreas Syndrome 12 50
Sideroblastic Anemia W/marrow Cell Vacuolization & Exocrine Pancreatic Dysfunction 24
Pearson's Marrow/pancreas Syndrome 50
Pearson's Marrow-Pancreas Syndrome 69
Pearson Marrow Pancreas Syndrome 24
Pearson's Syndrome 50

Classifications:



External Ids:

Disease Ontology 12 DOID:0060067

Summaries for Pearson Syndrome

NIH Rare Diseases : 50 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 cylindrical spirals myopathy, and has symptoms including muscular hypotonia, failure to thrive and delayed skeletal maturation. An important gene associated with Pearson Syndrome is MT-TK (Mitochondrially Encoded TRNA Lysine). The drugs Metformin and Pioglitazone have been mentioned in the context of this disorder. Affiliated tissues include Pancreas, pancreas and bone.

Disease Ontology : 12 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

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



Diseases related to Pearson Syndrome

Symptoms & Phenotypes for Pearson Syndrome

Human phenotypes related to Pearson Syndrome:

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 muscular hypotonia 32 HP:0001252
2 failure to thrive 32 HP:0001508
3 delayed skeletal maturation 32 HP:0002750
4 malabsorption 32 HP:0002024
5 type i diabetes mellitus 32 HP:0100651
6 anemia 32 HP:0001903
7 reduced bone mineral density 32 HP:0004349
8 abnormal hemoglobin 32 HP:0011902
9 exocrine pancreatic insufficiency 32 HP:0001738
10 lactic acidosis 32 HP:0003128
11 intrauterine growth retardation 32 HP:0001511
12 abnormality of skin pigmentation 32 HP:0001000
13 metabolic acidosis 32 HP:0001942
14 pancreatic fibrosis 32 HP:0100732

Drugs & Therapeutics for Pearson Syndrome

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

(show top 50) (show all 64)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
3 Hypoglycemic Agents Phase 4
4
Abacavir Approved, Investigational Phase 3 136470-78-5 65140 441300
5 Dolutegravir Approved Phase 3 1051375-16-6 54726191
6
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
7
Norepinephrine Approved Phase 3 51-41-2 439260
8
Terlipressin Approved, Investigational Phase 3 14636-12-5 72081
9 Anti-HIV Agents Phase 3
10 Anti-Infective Agents Phase 3
11 Anti-Retroviral Agents Phase 3
12 Antiviral Agents Phase 3
13 HIV Integrase Inhibitors Phase 3
14 Integrase Inhibitors Phase 3
15 Nucleic Acid Synthesis Inhibitors Phase 3
16 Reverse Transcriptase Inhibitors Phase 3
17 Neurotransmitter Agents Phase 3,Early Phase 1
18 Adrenergic Agents Phase 3
19 Adrenergic Agonists Phase 3
20 Adrenergic alpha-Agonists Phase 3
21 Antihypertensive Agents Phase 3
22 Autonomic Agents Phase 3
23 Coagulants Phase 3
24 Hemostatics Phase 3
25 Lypressin Phase 3
26 Natriuretic Agents Phase 3
27 Peripheral Nervous System Agents Phase 3
28 Vasoconstrictor Agents Phase 3
29
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
30 Micronutrients Phase 2
31 Tocopherols Phase 2
32 Tocotrienol, alpha Phase 2
33 Tocotrienols Phase 2
34 Trace Elements Phase 2
35 Ubiquinone Phase 2
36 Tocopherol Nutraceutical Phase 2
37 Tocotrienol Nutraceutical Phase 2
38
Pancrelipase Approved 53608-75-6
39
Clonazepam Approved, Illicit Early Phase 1 1622-61-3 2802
40
Tolnaftate Approved, Vet_approved Early Phase 1 2398-96-1 5510
41
Cyproterone Acetate Approved, Investigational 427-51-0
42
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757 53477783
43
Ethinyl Estradiol Approved 57-63-6 5991
44
Levonorgestrel Approved, Investigational 797-63-7, 17489-40-6 13109
45 pancreatin
46 Anticonvulsants Early Phase 1
47 GABA Agents Early Phase 1
48 GABA Modulators Early Phase 1
49 Androgen Antagonists
50 Androgens

Interventional clinical trials:

(show all 20)
id Name Status NCT ID Phase
1 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Recruiting NCT02733679 Phase 4
2 A Study of the Pharmacokinetics and Antiviral Activity of Dolutegravir in the Central Nervous System in HIV-1 Infected ART-naive Subjects Completed NCT01499199 Phase 3
3 Hypertonic Saline and Terlipressin for Sepsis-associated Hypotension Terminated NCT01271114 Phase 3
4 Phase 2 Study of EPI-743 in Children With Pearson Syndrome Terminated NCT02104336 Phase 2
5 Accuracy of Urinary NGAL in Predicting CardioRenal Syndrome in Acute Heart Failure at Emergency - CYNDERELA-HF Study Unknown status NCT01364636
6 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
7 Acupuncture Versus Clonazepam in Burning Mouth Syndrome Completed NCT02382029 Early Phase 1
8 ESS as a Diagnosis Resource Aid of the Syndrome of Obstructive Sleep Apnea Completed NCT00989885
9 Longitudinal Study of HAART, Social Networks, & Adherence Completed NCT00272220
10 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
11 In-line Filtration to Reduce Systemic Inflammatory Response Syndrome in Babies Born Very prEtErm Recruiting NCT02686060
12 Effect of Critical Patients Mobilization on Respiratory and Peripheral Muscle Strength and Functional Capacity. Recruiting NCT02919085
13 The Study of the Relationship of Insomnia in the Traditional Chinese Medicine and Western Medicine at Local Clinic Recruiting NCT03165370
14 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
15 A Pragmatic Clinical Trial of MyPEEPS Mobile to Improve HIV Prevention Behaviors in Diverse Adolescent MSM Recruiting NCT03167606
16 Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis Implantation Active, not recruiting NCT02945176
17 Natural History of Pearson Syndrome Enrolling by invitation NCT02327364
18 Functional Study of the Hypothalamus in Magnetic Resonance Imaging (MRI) in Polycystic Ovary Syndrome (PCOS) Not yet recruiting NCT03043924
19 Accuracy of the Sensory Test Using the Laryngopharyngeal Endoscopic Esthesiometer in Obstructive Sleep Apnea Not yet recruiting NCT03109171
20 STOPBANG As A Screening Tool for Obstructive Sleep Apnoea in Pregnancy Not yet recruiting NCT02542488

Search NIH Clinical Center for Pearson Syndrome

Genetic Tests for Pearson Syndrome

Genetic tests related to Pearson Syndrome:

id Genetic test Affiliating Genes
1 Pearson Syndrome 24

Anatomical Context for Pearson Syndrome

MalaCards organs/tissues related to Pearson Syndrome:

39
Pancreas, Bone, Heart, Liver, Testes, Kidney, Bone Marrow
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Pearson Syndrome:
id Tissue Anatomical CompartmentCell Relevance
1 Pancreas Pancreatic Acini Acinar Cells Affected by disease

Publications for Pearson Syndrome

Articles related to Pearson Syndrome:

(show top 50) (show all 52)
id Title Authors Year
1
Fusarium Osteomyelitis in a Patient With Pearson Syndrome: Case Report and Review of the Literature. ( 27757410 )
2016
2
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
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
Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: a case report. ( 25543536 )
2015
5
Biochemical abnormalities in Pearson syndrome. ( 25691415 )
2015
6
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
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
Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome. ( 19026771 )
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
Early neurological impairment and severe anemia in a newborn with Pearson syndrome. ( 18553104 )
2009
18
Cutaneous zygomycosis in an infant with Pearson syndrome. ( 17914738 )
2008
19
Two new cases with Pearson syndrome and review of Hacettepe experience. ( 19227422 )
2008
20
Pearson syndrome associated with hemophagocytic syndrome in a child. ( 27264153 )
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
Early onset of complete heart block in Pearson syndrome. ( 11117437 )
2000
31
Clinical heterogeneity in mitochondrial DNA deletion disorders: a diagnostic challenge of Pearson syndrome. ( 11102933 )
2000
32
Invasive aspergillosis in two patients with Pearson syndrome. ( 10462353 )
1999
33
Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome. ( 10030587 )
1999
34
Fatal acidosis in a neonate with Pearson syndrome. ( 10770098 )
1999
35
Detection of mtDNA deletion in Pearson syndrome by two independent PCR assays from Guthrie card. ( 9630077 )
1998
36
Schwachman or Pearson syndrome. ( 9495386 )
1998
37
Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome. ( 9467460 )
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
A case of Pearson syndrome associated with multiple renal cysts. ( 8897573 )
1996
41
Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion. ( 8909450 )
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
Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome. ( 1405465 )
1992
48
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
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

Expression for Pearson Syndrome

Search GEO for disease gene expression data for Pearson Syndrome.

Pathways for Pearson Syndrome

GO Terms for Pearson Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.33 ACADVL ALAS2 SLC25A38
2 mitochondrial matrix GO:0005759 9.13 ACADVL ALAS2 PUS1
3 mitochondrion GO:0005739 9.02 ACADVL ALAS2 CRYAB PUS1 SLC25A38

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

id Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.16 ALAS2 CRYAB
2 erythrocyte differentiation GO:0030218 8.96 ALAS2 SLC25A38
3 heme biosynthetic process GO:0006783 8.62 ALAS2 SLC25A38

Sources for Pearson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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