NSHA
MCID: ANM045
MIFTS: 49
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Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency (NSHA)
Categories:
Blood diseases, Genetic diseases, Metabolic diseases, Rare diseases
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MalaCards integrated aliases for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency:
Characteristics:OMIM:56
Inheritance:
x-linked dominant
Miscellaneous:
anemia may follow ingestion of fava beans (vicia faba) or treatment with antimalarial drugs such as primaquine g6pd deficiency prevalence is increased in greece, italy, the middle east, and north africa, thailand, and china HPO:31
anemia, nonspherocytic hemolytic, due to g6pd deficiency:
Inheritance x-linked dominant inheritance x-linked recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Blood diseases
ICD10:
32
33
Orphanet: 58
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OMIM :
56
G6PD deficiency is the most common genetic cause of chronic and drug-, food-, or infection-induced hemolytic anemia. G6PD catalyzes the first reaction in the pentose phosphate pathway, which is the only NADPH-generation process in mature red cells; therefore, defense against oxidative damage is dependent on G6PD. Most G6PD-deficient patients are asymptomatic throughout their life, but G6PD deficiency can be life-threatening. The most common clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which in most patients is triggered by an exogenous agent, e.g., primaquine or fava beans. Acute hemolysis is characterized by fatigue, back pain, anemia, and jaundice. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. The striking similarity between the areas where G6PD deficiency is common and Plasmodium falciparum malaria (see 611162) is endemic provided evidence that G6PD deficiency confers resistance against malaria (summary by Cappellini and Fiorelli, 2008). (300908)
MalaCards based summary : Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency, also known as favism, is related to glucosephosphate dehydrogenase deficiency and anemia, x-linked, with or without neutropenia and/or platelet abnormalities. An important gene associated with Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency is G6PD (Glucose-6-Phosphate Dehydrogenase), and among its related pathways/superpathways are Metabolism and Parkinson disease. The drugs Primaquine and Antiparasitic Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and neutrophil, and related phenotypes are splenomegaly and fever Disease Ontology : 12 A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans. UniProtKB/Swiss-Prot : 73 Anemia, non-spherocytic hemolytic, due to G6PD deficiency: A disease characterized by G6PD deficiency, acute hemolytic anemia, fatigue, back pain, and jaundice. In most patients, the disease is triggered by an exogenous agent, such as some drugs, food, or infection. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. Although G6PD deficiency can be life-threatening, most patients are asymptomatic throughout their life. |
Human phenotypes related to Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency:31 (show all 13)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:300908 |
Drugs for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Cochrane evidence based reviews: favism |
MalaCards organs/tissues related to Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency:40
Kidney,
Testes,
Neutrophil,
Liver,
Bone Marrow,
Bone,
Breast
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Articles related to Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency:(show top 50) (show all 504)
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ClinVar genetic disease variations for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency:6 (show top 50) (show all 65)
UniProtKB/Swiss-Prot genetic disease variations for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency:73 (show top 50) (show all 58)
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Pathways related to Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency according to GeneCards Suite gene sharing:
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Biological processes related to Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency according to GeneCards Suite gene sharing:
Molecular functions related to Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency according to GeneCards Suite gene sharing:
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