Pearson Syndrome malady
Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Metabolic diseases, Endocrine diseases, Blood diseases, Immune diseases categories
Aliases & Descriptions for Pearson Syndrome:
MalaCards categories: See all MalaCards categories (disease lists)
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,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
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. individuals 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. last updated: 11/21/2011
MalaCards based summary: Pearson Syndrome, also known as pearson marrow-pancreas syndrome, is related to mitochondrial encephalomyopathy and lactic acidosis, 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:8 A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.
Genetics Home Reference:21 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...
Diseases related to Pearson Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 22)
Graphical network of the top 20 diseases related to Pearson Syndrome:
Symptoms:48 (show all 14)
HPO human phenotypes related to Pearson Syndrome:(show all 10)
MalaCards organs/tissues related to Pearson Syndrome:31
Pancreas, Bone, Bone marrow, Skin, Liver, Eye, Heart, Endothelial
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Pearson Syndrome:
Articles related to Pearson Syndrome:(show all 47)
Search GEO for disease gene expression data for Pearson Syndrome.
Cellular components related to Pearson Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Pearson Syndrome according to GeneCards Suite gene sharing:
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet