Wilson's disease presenting as haemolytic anaemia. 2009

Tarandeep Singh, and M K Chaturvedi, and S Banerjee, and P Keshwani, and Pradeep Mittal, and Sunil Sharma, and Himanshu Mehla

UI MeSH Term Description Entries
D008297 Male Males
D003300 Copper A heavy metal trace element with the atomic symbol Cu, atomic number 29, and atomic weight 63.55. Copper-63,Copper 63
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006527 Hepatolenticular Degeneration A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years. Cerebral Pseudosclerosis,Neurohepatic Degeneration,Pseudosclerosis,Wilson Disease,Copper Storage Disease,Hepatic Form of Wilson Disease,Hepato-Neurologic Wilson Disease,Hepatocerebral Degeneration,Hepatolenticular Degeneration Syndrome,Kinnier-Wilson Disease,Progressive Lenticular Degeneration,Westphal-Strumpell Syndrome,Wilson Disease, Hepatic Form,Wilson's Disease,Cerebral Pseudoscleroses,Copper Storage Diseases,Degeneration Syndrome, Hepatolenticular,Degeneration Syndromes, Hepatolenticular,Degeneration, Hepatocerebral,Degeneration, Hepatolenticular,Degeneration, Neurohepatic,Degeneration, Progressive Lenticular,Degenerations, Hepatocerebral,Degenerations, Neurohepatic,Disease, Copper Storage,Diseases, Copper Storage,Diseases, Hepato-Neurologic Wilson,Diseases, Kinnier-Wilson,Hepato Neurologic Wilson Disease,Hepato-Neurologic Wilson Diseases,Hepatocerebral Degenerations,Hepatolenticular Degeneration Syndromes,Kinnier Wilson Disease,Kinnier-Wilson Diseases,Lenticular Degeneration, Progressive,Neurohepatic Degenerations,Pseudoscleroses, Cerebral,Pseudosclerosis, Cerebral,Storage Disease, Copper,Storage Diseases, Copper,Syndrome, Hepatolenticular Degeneration,Syndromes, Hepatolenticular Degeneration,Westphal Strumpell Syndrome,Westphal-Strumpell Syndromes,Wilson Disease, Hepato-Neurologic,Wilson Diseases, Hepato-Neurologic,Wilsons Disease
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000073840 Copper-Transporting ATPases P-type ATPases which transport copper ions across membranes in prokaryotic and eukaryotic cells. They possess a conserved CYSTEINE-HISTIDINE-SERINE (CPx) amino acid motif within their transmembrane helices that functions in cation translocation and catalytic activation, and an N-terminal copper-binding CxxC motif that regulates enzyme activity. They play essential roles in intracellular copper homeostasis through regulating the uptake, efflux and storage of copper ions, and in cuproprotein biosynthesis. ATP7B Cu-Binding P Type ATPase,ATPase, Cu++ Transporting, beta Polypeptide (Wilson Disease),Copper-Transporting ATPase,Copper-Transporting ATPase 1,Copper-Transporting ATPase 2,Copper-Transporting Adenosine Triphosphatases,Cu(+)-Transporting ATPases,Cu-Transporting ATPases,Menkes Disease-Associated Protein,Pineal Night-Specific ATPase,Wilson Disease Cu-Binding P Type ATPase,ATP7A Protein,ATPase Copper Transporting alpha,Copper Pump 1,PINA Enzyme,Wilson Disease Protein,ATP7B Cu Binding P Type ATPase,ATPase 1, Copper-Transporting,ATPase 2, Copper-Transporting,ATPase, Copper-Transporting,ATPase, Pineal Night-Specific,ATPases, Copper-Transporting,ATPases, Cu-Transporting,Adenosine Triphosphatases, Copper-Transporting,Copper Transporting ATPase,Copper Transporting ATPase 1,Copper Transporting ATPase 2,Copper Transporting ATPases,Copper Transporting Adenosine Triphosphatases,Cu Transporting ATPases,Menkes Disease Associated Protein,Night-Specific ATPase, Pineal,Pineal Night Specific ATPase,Triphosphatases, Copper-Transporting Adenosine,Wilson Disease Cu Binding P Type ATPase
D000251 Adenosine Triphosphatases A group of enzymes which catalyze the hydrolysis of ATP. The hydrolysis reaction is usually coupled with another function such as transporting Ca(2+) across a membrane. These enzymes may be dependent on Ca(2+), Mg(2+), anions, H+, or DNA. ATPases,Adenosinetriphosphatase,ATPase,ATPase, DNA-Dependent,Adenosine Triphosphatase,DNA-Dependent ATPase,DNA-Dependent Adenosinetriphosphatases,ATPase, DNA Dependent,Adenosinetriphosphatases, DNA-Dependent,DNA Dependent ATPase,DNA Dependent Adenosinetriphosphatases,Triphosphatase, Adenosine
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000743 Anemia, Hemolytic A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES). Anemia, Hemolytic, Acquired,Anemia, Microangiopathic,Haemolytic Anaemia,Hemolytic Anemia,Hemolytic Anemia, Acquired,Microangiopathic Hemolytic Anemia,Acquired Hemolytic Anemia,Anaemia, Haemolytic,Anemia, Acquired Hemolytic,Anemia, Microangiopathic Hemolytic,Haemolytic Anaemias,Hemolytic Anemia, Microangiopathic,Microangiopathic Anemia,Microangiopathic Hemolytic Anemias
D027682 Cation Transport Proteins Membrane proteins whose primary function is to facilitate the transport of positively charged molecules (cations) across a biological membrane. Cation Pumps,Cation Pump,Pump, Cation,Pumps, Cation

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