Pearson Marrow-Pancreas Syndrome

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

Aliases & Classifications for Pearson Marrow-Pancreas Syndrome

MalaCards integrated aliases for Pearson Marrow-Pancreas Syndrome:

Name: Pearson Marrow-Pancreas Syndrome 54 39 12 50 25 29
Pearson Syndrome 39 12 50 24 25 56 14
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


Orphanet epidemiological data:

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



frequently death in infancy


pearson marrow-pancreas syndrome:
Inheritance mitochondrial inheritance


Summaries for Pearson Marrow-Pancreas 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 Marrow-Pancreas Syndrome, also known as pearson syndrome, is related to multiple epiphyseal dysplasia with robin phenotype and myoclonic epilepsy associated with ragged-red fibers, and has symptoms including failure to thrive, metabolic acidosis and 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.

Genetics Home Reference : 25 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.

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

Wikipedia : 72 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

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

Symptoms via clinical synopsis from OMIM:


Growth- Other:
failure to thrive

Growth- Weight:
low birth weight

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

Endocrine Features:
insulin-dependent diabetes mellitus

Abdomen- Spleen:
splenic atrophy

Metabolic Features:
metabolic acidosis
lactic acidosis

Abdomen- Gastroin testinal:

Abdomen- Pancreas:
pancreatic fibrosis
exocrine pancreatic dysfunction

Genitourinary- Kidneys:
renal fanconi syndrome

refractory sideroblastic anemia
vacuolization of marrow precursors

Clinical features from OMIM:


Human phenotypes related to Pearson Marrow-Pancreas Syndrome:

56 32 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 metabolic acidosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001942
3 anemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001903
4 intrauterine growth retardation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001511
5 lactic acidosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0003128
6 malabsorption 56 32 hallmark (90%) Very frequent (99-80%) HP:0002024
7 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
8 delayed skeletal maturation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002750
9 pancreatic fibrosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0100732
10 exocrine pancreatic insufficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0001738
11 type i diabetes mellitus 56 32 hallmark (90%) Very frequent (99-80%) HP:0100651
12 reduced bone mineral density 56 32 hallmark (90%) Very frequent (99-80%) HP:0004349
13 abnormal hemoglobin 56 32 hallmark (90%) Very frequent (99-80%) HP:0011902
14 abnormality of skin pigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001000
15 small for gestational age 32 HP:0001518
16 renal fanconi syndrome 32 HP:0001994
17 refractory sideroblastic anemia 32 HP:0004864
18 complex organic aciduria 32 HP:0008336
19 3-methylglutaric aciduria 32 HP:0003344

Drugs & Therapeutics for Pearson Marrow-Pancreas Syndrome

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

(show all 30)
id Name Status Phase Clinical Trials Cas Number PubChem Id
Bezafibrate Approved Phase 2 41859-67-0 39042
2 Tocopherol Approved, Nutraceutical Phase 2
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
4 Antimetabolites Phase 2
5 Hypolipidemic Agents Phase 2
6 Lipid Regulating Agents Phase 2
7 Micronutrients Phase 2
8 Tocopherols Phase 2
9 Tocotrienol, alpha Phase 2
10 Tocotrienols Phase 2
11 Trace Elements Phase 2
12 Ubiquinone Phase 2
13 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
Pancrelipase Approved 53608-75-6
Glycerol Approved, Investigational 56-81-5 753
Heparin Approved, Investigational 9005-49-6 772 46507594
17 pancreatin
18 Anticoagulants
19 calcium heparin
20 Calcium, Dietary
21 Fat Emulsions, Intravenous
22 Fibrinolytic Agents
23 Hypoglycemic Agents
24 insulin
25 Insulin, Globin Zinc
26 Parenteral Nutrition Solutions
27 Pharmaceutical Solutions
28 Protective Agents
29 Soybean oil, phospholipid emulsion
30 Soy Bean Nutraceutical

Interventional clinical trials:

id 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 Phase 2 Study of EPI-743 in Children With Pearson Syndrome Terminated NCT02104336 Phase 2 EPI-743
4 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
5 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
6 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307 Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
7 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
8 Natural History of Pearson Syndrome Enrolling by invitation NCT02327364

Search NIH Clinical Center for Pearson Marrow-Pancreas Syndrome

Genetic Tests for Pearson Marrow-Pancreas Syndrome

Genetic tests related to Pearson Marrow-Pancreas Syndrome:

id Genetic test Affiliating Genes
1 Pearson Marrow-Pancreas Syndrome 29
2 Pearson Syndrome 24

Anatomical Context for Pearson Marrow-Pancreas Syndrome

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

Pancreas, Bone, Bone Marrow, Testes, Liver, Heart, 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:
id 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 all 11)
id Title Authors Year
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 )
Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia. ( 24735966 )
Prenatal manifestation of pancytopenia in Pearson marrow-pancreas syndrome caused by a mitochondrial DNA deletion. ( 17219391 )
Pearson marrow-pancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNA. ( 12116272 )
Fluorescence in situ hybridization analysis of peripheral blood cells in Pearson marrow-pancreas syndrome. ( 11562629 )
Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome. ( 10780785 )
Pearson marrow pancreas syndrome: a molecular study and clinical management. ( 9212183 )
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. ( 7581370 )
Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome. ( 8410517 )
Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome. ( 1712754 )
Widespread multi-tissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome. ( 2213388 )

Variations for Pearson Marrow-Pancreas Syndrome

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:

id Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.13 ALAS2 MT-CO2 SLC25A38
2 mitochondrion GO:0005739 9.02 ALAS2 CRYAB MT-CO2 PUS1 SLC25A38

Biological processes related to Pearson Marrow-Pancreas 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 Marrow-Pancreas Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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