Pearson Syndrome malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Metabolic diseases, Endocrine diseases, Blood diseases, Immune diseases
Aliases & Descriptions for Pearson Syndrome:
Orphanet epidemiological data:51
Inheritance: Mitochondrial inheritance,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
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
NIH Rare Diseases:45 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 hepatitis and congenital diaphragmatic hernia, and has symptoms including abnormal pigmentary skin changes/skin pigmentation anomalies, malabsorption/chronic diarrhea/steatorrhea and storage liver disease. An important gene associated with Pearson Syndrome is SLC25A38 (Solute Carrier Family 25 Member 38). Affiliated tissues include pancreas, bone and bone marrow.
Disease Ontology:10 A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.
Genetics Home Reference:23 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:68 Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas... more...
Symptoms:51 (show all 14)
Drugs for Pearson Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 35)
Interventional clinical trials:(show all 14)
Search NIH Clinical Center for Pearson Syndrome
Genetic tests related to Pearson Syndrome:
MalaCards organs/tissues related to Pearson Syndrome:33
Pancreas, Bone, Bone marrow, Skin, Heart, Liver, Eye
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Pearson Syndrome:
MGI Mouse Phenotypes related to Pearson Syndrome:38
Articles related to Pearson Syndrome:(show all 50)
Search GEO for disease gene expression data for Pearson Syndrome.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet