MCID: PRS127
MIFTS: 45

Pearson Marrow-Pancreas Syndrome

Categories: Blood diseases, Endocrine diseases, Gastrointestinal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Pearson Marrow-Pancreas Syndrome

MalaCards integrated aliases for Pearson Marrow-Pancreas Syndrome:

Name: Pearson Marrow-Pancreas Syndrome 58 42 12 54 26 30 6
Pearson Syndrome 42 12 54 26 60 15
Sideroblastic Anemia with Marrow Cell Vacuolization and Exocrine Pancreatic Dysfunction 58
Pearson's Marrow/pancreas Syndrome 54
Pearson's Marrow-Pancreas Syndrome 74
Pearson's Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
pearson syndrome
Inheritance: Mitochondrial inheritance,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

58
Inheritance:
mitochondrial

Miscellaneous:
frequently death in infancy


HPO:

33
pearson marrow-pancreas syndrome:
Inheritance mitochondrial inheritance


Classifications:



Summaries for Pearson Marrow-Pancreas Syndrome

NIH Rare Diseases : 54 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.

MalaCards based summary : Pearson Marrow-Pancreas Syndrome, also known as pearson syndrome, is related to sideroblastic anemia and diamond-blackfan anemia. An important gene associated with Pearson Marrow-Pancreas Syndrome is MT-CO2 (Mitochondrially Encoded Cytochrome C Oxidase II). The drugs Bezafibrate and Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include Pancreas, pancreas and bone, and related phenotypes are muscular hypotonia and failure to thrive

Disease Ontology : 12 A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.

Genetics Home Reference : 26 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 : 77 Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas... more...

Description from OMIM: 557000

Related Diseases for Pearson Marrow-Pancreas Syndrome

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 sideroblastic anemia 28.7 ALAS2 PUS1 SLC25A38
2 diamond-blackfan anemia 10.2
3 3-methylglutaconic aciduria 10.2
4 pancytopenia 10.2
5 chronic progressive external ophthalmoplegia 10.2
6 kearns-sayre syndrome 10.0
7 cataract 10.0
8 diabetes mellitus 10.0
9 neonatal diabetes mellitus 10.0
10 hydrops fetalis, nonimmune 10.0
11 lymphatic malformation 7 10.0
12 liver cirrhosis 10.0
13 hemosiderosis 10.0
14 bowenoid papulosis 10.0
15 fetal edema 10.0
16 hydrops fetalis 10.0
17 immune hydrops fetalis 10.0
18 atrial standstill 1 9.9
19 celiac disease 1 9.9
20 aspergillosis 9.9
21 deficiency anemia 9.9
22 neutropenia 9.9
23 invasive aspergillosis 9.9
24 osteomyelitis 9.9
25 fanconi syndrome 9.9
26 hypospadias 9.9
27 corneal edema 9.9
28 lactic acidosis 9.9
29 myopathy 9.9
30 mucormycosis 9.9
31 mitochondrial encephalomyopathy 9.9
32 cleft lip 9.9
33 cleft lip/palate 9.9
34 autosomal recessive sideroblastic anemia 9.9
35 mitochondrial myopathy 9.6 MT-CO2 PUS1

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



Diseases related to Pearson Marrow-Pancreas Syndrome

Symptoms & Phenotypes for Pearson Marrow-Pancreas Syndrome

Human phenotypes related to Pearson Marrow-Pancreas Syndrome:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
2 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
3 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
4 malabsorption 60 33 hallmark (90%) Very frequent (99-80%) HP:0002024
5 type i diabetes mellitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0100651
6 anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001903
7 reduced bone mineral density 60 33 hallmark (90%) Very frequent (99-80%) HP:0004349
8 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
9 abnormal hemoglobin 60 33 hallmark (90%) Very frequent (99-80%) HP:0011902
10 exocrine pancreatic insufficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0001738
11 lactic acidosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0003128
12 abnormality of skin pigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001000
13 metabolic acidosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001942
14 pancreatic fibrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100732
15 diabetes mellitus 33 HP:0000819
16 renal fanconi syndrome 33 HP:0001994
17 small for gestational age 33 HP:0001518
18 3-methylglutaric aciduria 33 HP:0003344
19 refractory sideroblastic anemia 33 HP:0004864
20 complex organic aciduria 33 HP:0008336

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Metabolic Features:
lactic acidosis
metabolic acidosis

Genitourinary Kidneys:
renal fanconi syndrome

Endocrine Features:
insulin-dependent diabetes mellitus

Abdomen Spleen:
splenic atrophy

Abdomen Gastrointestinal:
malabsorption

Abdomen Pancreas:
pancreatic fibrosis
exocrine pancreatic dysfunction

Laboratory Abnormalities:
3-methylglutaconic aciduria
complex organic aciduria
mitochondrial deletions
increased ketone body or lactate/pyruvate plasma ratios

Growth Weight:
low birth weight

Hematology:
refractory sideroblastic anemia
vacuolization of marrow precursors

Clinical features from OMIM:

557000

Drugs & Therapeutics for Pearson Marrow-Pancreas Syndrome

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 2 41859-67-0 39042
2
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
3
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
4 Tocotrienol Investigational Phase 2 6829-55-6
5 Antimetabolites Phase 2
6 Hypolipidemic Agents Phase 2
7 Lipid Regulating Agents Phase 2
8 Tocotrienol, alpha Phase 2
9 Nutrients Phase 2
10 Micronutrients Phase 2
11 Ubiquinone Phase 2
12 Tocopherols Phase 2
13 Tocotrienols Phase 2
14 Trace Elements Phase 2
15
Pancrelipase Approved, Investigational 53608-75-6
16
Heparin Approved, Investigational Not Applicable 9005-49-6 46507594 772
17
Glycerol Approved, Investigational Not Applicable 56-81-5 753
18
Calcium Approved, Nutraceutical Not Applicable 7440-70-2 271
19 pancreatin
20 Fat Emulsions, Intravenous Not Applicable
21 Soybean oil, phospholipid emulsion Not Applicable
22 Calcium, Dietary Not Applicable
23 Anticoagulants Not Applicable
24 Insulin, Globin Zinc Not Applicable
25 Parenteral Nutrition Solutions Not Applicable
26 Fibrinolytic Agents Not Applicable
27 Soy Bean Not Applicable
28 Hypoglycemic Agents Not Applicable
29 calcium heparin Not Applicable
30 Protective Agents Not Applicable
31 insulin Not Applicable
32 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects Completed NCT00983788 Phase 2 Bezafibrate
2 High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders Completed NCT01494051 Phase 1, Phase 2
3 The Objective of This Study is to o Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD (Autologous cd34+ Cells Enriched With Blood Derived Mitochondria) in Pediatric Patients With Pearson Syndrome Enrolling by invitation NCT03384420 Phase 1, Phase 2
4 Phase 2 Study of EPI-743 in Children With Pearson Syndrome Terminated NCT02104336 Phase 2 EPI-743
5 Acute Nutritional Ketosis in VLCAD Deficiency Completed NCT03531554 Not Applicable
6 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
7 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
8 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307 Not Applicable Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
9 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable
10 Natural History of Pearson Syndrome Enrolling by invitation NCT02327364
11 Effect of Exercise and Training on Fat Oxidation During Overfeeding - the FeedEX Study Terminated NCT02333916 Not Applicable

Search NIH Clinical Center for Pearson Marrow-Pancreas Syndrome

Genetic Tests for Pearson Marrow-Pancreas Syndrome

Genetic tests related to Pearson Marrow-Pancreas Syndrome:

# Genetic test Affiliating Genes
1 Pearson Marrow-Pancreas Syndrome 30

Anatomical Context for Pearson Marrow-Pancreas Syndrome

MalaCards organs/tissues related to Pearson Marrow-Pancreas Syndrome:

42
Pancreas, Bone, Bone Marrow, Heart, Liver, Testes, Eye
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

Publications for Pearson Marrow-Pancreas Syndrome

Articles related to Pearson Marrow-Pancreas Syndrome:

(show top 50) (show all 70)
# Title Authors Year
1
Pearson Syndrome: A Rare Cause of Failure to Thrive in Infants. ( 30845838 )
2019
2
Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature. ( 29286581 )
2018
3
Pearson syndrome. ( 29337599 )
2018
4
A Novel Mitochondrial DNA Deletion in Patient with Pearson Syndrome. ( 29736106 )
2018
5
Pearson Syndrome, A Medical Diagnosis Difficult to Sustain Without Genetic Testing. ( 29739102 )
2018
6
Broad Phenotypic Heterogeneity and Multisystem Involvement in Single mtDNA Deletion-associated Pearson Syndrome. ( 30061775 )
2018
7
An infant with Pearson syndrome: a rare cause of congenital sideroblastic anemia and bone marrow failure. ( 28495927 )
2017
8
A novel mitochondrial DNA deletion in a patient with Pearson syndrome and neonatal diabetes mellitus provides insight into disease etiology, severity and progression. ( 26016877 )
2016
9
Fusarium Osteomyelitis in a Patient With Pearson Syndrome: Case Report and Review of the Literature. ( 27757410 )
2016
10
Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica). ( 26238250 )
2016
11
Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review. ( 26074369 )
2015
12
WITHDRAWN: 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
13
Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: a case report. ( 25543536 )
2015
14
Biochemical abnormalities in Pearson syndrome. ( 25691415 )
2015
15
Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia. ( 24735966 )
2014
16
Pearson syndrome in a Diamond-Blackfan anemia cohort. ( 25035146 )
2014
17
Granulocyte colony stimulating factor for treatment of neutropenia-associated infection in Pearson syndrome. ( 24633981 )
2014
18
Corneal endothelial dysfunction in Pearson syndrome. ( 21936618 )
2013
19
Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency. ( 22424738 )
2012
20
A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions. ( 21741369 )
2011
21
Clinical manifestations and management of four children with Pearson syndrome. ( 22012855 )
2011
22
Celiac disease in siblings with Pearson syndrome. ( 20228667 )
2010
23
Transient corneal edema and left hemisphere dysfunction in pearson syndrome. ( 19491648 )
2009
24
Early neurological impairment and severe anemia in a newborn with Pearson syndrome. ( 18553104 )
2009
25
Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome. ( 19026771 )
2009
26
Pearson syndrome in the neonatal period: two case reports and review of the literature. ( 19881395 )
2009
27
Cutaneous zygomycosis in an infant with Pearson syndrome. ( 17914738 )
2008
28
Two new cases with Pearson syndrome and review of Hacettepe experience. ( 19227422 )
2008
29
Pearson syndrome associated with hemophagocytic syndrome in a child. ( 27264153 )
2008
30
Prenatal manifestation of pancytopenia in Pearson marrow-pancreas syndrome caused by a mitochondrial DNA deletion. ( 17219391 )
2007
31
The neurological evolution of Pearson syndrome: case report and literature review. ( 17434771 )
2007
32
Pearson syndrome in an infant heterozygous for C282Y allele of HFE gene. ( 17852457 )
2007
33
Parafoveolar intraretinal crystals in pearson syndrome. ( 25390989 )
2007
34
A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate. ( 16435219 )
2005
35
Co-existing point mutations of mitochondrial DNA in a patient with a heart abnormality and Pearson syndrome-like symptoms. ( 16278899 )
2005
36
Pearson syndrome and the role of deletion dimers and duplications in the mtDNA. ( 14970745 )
2004
37
Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNA. ( 14663277 )
2003
38
Pearson marrow-pancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNA. ( 12116272 )
2002
39
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome. ( 12152148 )
2002
40
Fluorescence in situ hybridization analysis of peripheral blood cells in Pearson marrow-pancreas syndrome. ( 11562629 )
2001
41
Clinical implications of duplicated mtDNA in Pearson syndrome. ( 11169556 )
2001
42
Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome. ( 10780785 )
2000
43
Clinical heterogeneity in mitochondrial DNA deletion disorders: a diagnostic challenge of Pearson syndrome. ( 11102933 )
2000
44
Early onset of complete heart block in Pearson syndrome. ( 11117437 )
2000
45
Invasive aspergillosis in two patients with Pearson syndrome. ( 10462353 )
1999
46
Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome. ( 10030587 )
1999
47
Fatal acidosis in a neonate with Pearson syndrome. ( 10770098 )
1999
48
Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome. ( 9467460 )
1998
49
Schwachman or Pearson syndrome. ( 9495386 )
1998
50
Detection of mtDNA deletion in Pearson syndrome by two independent PCR assays from Guthrie card. ( 9630077 )
1998

Variations for Pearson Marrow-Pancreas Syndrome

ClinVar genetic disease variations for Pearson Marrow-Pancreas Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ACADVL NM_000018.3(ACADVL): c.325G> A (p.Val109Met) single nucleotide variant Uncertain significance rs754207297 GRCh37 Chromosome 17, 7124132: 7124132
2 ACADVL NM_000018.3(ACADVL): c.325G> A (p.Val109Met) single nucleotide variant Uncertain significance rs754207297 GRCh38 Chromosome 17, 7220813: 7220813

Expression for Pearson Marrow-Pancreas Syndrome

Search GEO for disease gene expression data for Pearson Marrow-Pancreas Syndrome.

Pathways for Pearson Marrow-Pancreas Syndrome

GO Terms for Pearson Marrow-Pancreas Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.46 ACADVL ALAS2 MT-CO2 PUS1
2 mitochondrial matrix GO:0005759 9.13 ACADVL ALAS2 PUS1
3 mitochondrial inner membrane GO:0005743 8.92 ACADVL ALAS2 MT-CO2 SLC25A38

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

# Name GO ID Score Top Affiliating Genes
1 erythrocyte differentiation GO:0030218 9.16 ALAS2 SLC25A38
2 response to cold GO:0009409 8.96 ACADVL MT-CO2
3 heme biosynthetic process GO:0006783 8.62 ALAS2 SLC25A38

Sources for Pearson Marrow-Pancreas Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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