Pearson Marrow-Pancreas Syndrome

Categories: Rare 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 57 41 12 53 25 29 6
Pearson Syndrome 41 12 53 25 59 15
Sideroblastic Anemia with Marrow Cell Vacuolization and Exocrine Pancreatic Dysfunction 57
Pearson's Marrow/pancreas Syndrome 53
Pearson's Marrow-Pancreas Syndrome 73
Pearson's Syndrome 53


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


External Ids:

OMIM 57 557000
Disease Ontology 12 DOID:0060067
Orphanet 59 ORPHA699
UMLS via Orphanet 74 C0342784 C0342773
ICD10 via Orphanet 34 D64.0
MedGen 42 C0342784
UMLS 73 C0342784

Summaries for Pearson Marrow-Pancreas Syndrome

NIH Rare Diseases : 53 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 mitochondrial dna depletion syndrome 1 and sideroblastic anemia acquired. 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 abnormality of skin pigmentation and muscular hypotonia

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

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.

Wikipedia : 76 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

Metabolic Features:
lactic acidosis
metabolic acidosis

Genitourinary Kidneys:
renal fanconi syndrome

Endocrine Features:
insulin-dependent diabetes mellitus

splenic atrophy

Abdomen Gastrointestinal:

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

refractory sideroblastic anemia
vacuolization of marrow precursors

Clinical features from OMIM:


Human phenotypes related to Pearson Marrow-Pancreas Syndrome:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of skin pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001000
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
4 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
5 exocrine pancreatic insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0001738
6 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
7 metabolic acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001942
8 malabsorption 59 32 hallmark (90%) Very frequent (99-80%) HP:0002024
9 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
10 lactic acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003128
11 reduced bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0004349
12 abnormal hemoglobin 59 32 hallmark (90%) Very frequent (99-80%) HP:0011902
13 type i diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0100651
14 pancreatic fibrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100732
15 diabetes mellitus 32 HP:0000819
16 small for gestational age 32 HP:0001518
17 renal fanconi syndrome 32 HP:0001994
18 3-methylglutaric aciduria 32 HP:0003344
19 refractory sideroblastic anemia 32 HP:0004864
20 complex organic aciduria 32 HP:0008336

Drugs & Therapeutics for Pearson Marrow-Pancreas Syndrome

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

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Bezafibrate Approved, Investigational Phase 2 41859-67-0 39042
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
4 Hypolipidemic Agents Phase 2
5 Lipid Regulating Agents Phase 2
6 Antimetabolites Phase 2
7 Ubiquinone Phase 2
8 Micronutrients Phase 2
9 Tocopherols Phase 2
10 Tocotrienol, alpha Phase 2
11 Tocotrienols Phase 2
12 Trace Elements Phase 2
13 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
Pancrelipase Approved, Investigational 53608-75-6
Heparin Approved, Investigational Not Applicable 9005-49-6 772 46507594
Glycerol Approved, Investigational Not Applicable 56-81-5 753
17 pancreatin
18 calcium heparin Not Applicable
19 insulin Not Applicable
20 Fibrinolytic Agents Not Applicable
21 Soybean oil, phospholipid emulsion Not Applicable
22 Parenteral Nutrition Solutions Not Applicable
23 Hypoglycemic Agents Not Applicable
24 Pharmaceutical Solutions Not Applicable
25 Anticoagulants Not Applicable
26 Fat Emulsions, Intravenous Not Applicable
27 Insulin, Globin Zinc Not Applicable
28 Protective Agents Not Applicable
29 Calcium, Dietary Not Applicable
30 Soy Bean Nutraceutical 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 Phase 2 Study of EPI-743 in Children With Pearson Syndrome Terminated NCT02104336 Phase 2 EPI-743
4 Acute Nutritional Ketosis in VLCAD Deficiency Completed NCT03531554 Not Applicable
5 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
6 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
7 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307 Not Applicable Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
8 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable
9 Natural History of Pearson Syndrome Enrolling by invitation NCT02327364
10 Mitochondrial-enriched Autologous CD34+ Cells for Non-inherited Mitochondrial Disorders Not yet recruiting NCT03384420 Early Phase 1
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 29

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:
# 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)
# 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

ClinVar genetic disease variations for Pearson Marrow-Pancreas Syndrome:

# 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 GRCh38 Chromosome 17, 7220813: 7220813
2 ACADVL NM_000018.3(ACADVL): c.325G> A (p.Val109Met) single nucleotide variant Uncertain significance rs754207297 GRCh37 Chromosome 17, 7124132: 7124132

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 mitochondrial inner membrane GO:0005743 8.8 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 8.96 ALAS2 SLC25A38
2 heme biosynthetic process GO:0006783 8.62 ALAS2 SLC25A38

Sources for Pearson Marrow-Pancreas Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
70 SNOMED-CT via Orphanet
72 Tocris
74 UMLS via Orphanet
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