Pearson Syndrome malady
Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Metabolic diseases, Endocrine diseases, Blood diseases, Immune diseases categories
9Disease Ontology, 22Genetics Home Reference, 42NIH Rare Diseases, 64Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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.┬áindividuals 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.┬á┬á last updated: 11/21/2011
MalaCards based summary: Pearson Syndrome, also known as pearson marrow-pancreas syndrome, is related to lactic acidosis and pancytopenia, and has symptoms including abnormality of skin pigmentation, muscular hypotonia and intrauterine growth retardation. An important gene associated with Pearson Syndrome is GLRX5 (glutaredoxin 5). The compounds Succinyl-CoA and Coenzyme A have been mentioned in the context of this disorder. Affiliated tissues include pancreas, bone and bone marrow.
Disease Ontology:9 A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.
Genetics Home Reference:22 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:64 Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas... more...
Description from OMIM:46 557000
Pearson Syndrome, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Eye diseases, Gastrointestinal diseases, Endocrine diseases, Blood diseases, Immune diseases
Rare eye diseases
Rare gastroenterological diseases
Inborn errors of metabolism
Rare endocrine diseases
Rare haematological diseases
Rare immunological diseases
Characteristics (Orphanet epidemiological data):48
Inheritance: Mitochondrial inheritance,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
Diseases related to Pearson Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:(show all 23)
Graphical network of the top 20 diseases related to Pearson Syndrome:
Symptoms by clinical synopsis from OMIM:557000
Clinical features from OMIM:557000
Symptoms:48 (show all 14)
HPO human phenotypes related to Pearson Syndrome:(show all 22)
MalaCards organs/tissues related to Pearson Syndrome:32
Pancreas, Bone, Bone marrow, Skin, Liver, Eye, Heart, Endothelial
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Cells/anatomical compartments in embryo or adult related to Pearson Syndrome:
Articles related to Pearson Syndrome:(show all 44)
Search GEO for disease gene expression data for Pearson Syndrome.
Cellular components related to Pearson Syndrome according to GeneCards/GeneDecks:
Biological processes related to Pearson Syndrome according to GeneCards/GeneDecks:
27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet