Biomaterial Database

[Carbonic anhydrase II deficiency]. 1998

H Murakami, and S Aramaki, and M Yoshino

Department of Pediatrics & Child Health, Kurume University School of Medicine.

UI	MeSH Term	Description	Entries
D007008	Hypokalemia	Abnormally low potassium concentration in the blood. It may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. It may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the T wave and elevation of the U wave), by renal disease, and by gastrointestinal disorders. (Dorland, 27th ed)	Hypopotassemia,Hypokalemias,Hypopotassemias
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D010022	Osteopetrosis	Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY).	Albers-Schoenberg Disease,Marble Bone Disease,Osteosclerosis Fragilis,Albers-Schonberg Disease,Albers-Schonberg Disease, Autosomal Dominant,Albers-Schönberg Disease,Autosomal Dominant Osteopetrosis Type 2,Congenital Osteopetrosis,Marble Bones, Autosomal Dominant,Osteopetrosis Autosomal Dominant Type 2,Osteopetrosis, Autosomal Dominant 2,Osteopetrosis, Autosomal Dominant, Type II,Osteosclerosis Fragilis Generalisata,Albers Schoenberg Disease,Albers Schonberg Disease,Albers Schonberg Disease, Autosomal Dominant,Albers Schönberg Disease,Disease, Albers-Schoenberg,Disease, Albers-Schonberg,Disease, Albers-Schönberg,Disease, Marble Bone,Osteopetroses,Osteosclerosis Fragilis Generalisatas
D011379	Prognosis	A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.	Prognostic Factor,Prognostic Factors,Factor, Prognostic,Factors, Prognostic,Prognoses
D001928	Brain Diseases, Metabolic	Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.	Central Nervous System Metabolic Disorders,Encephalopathies, Metabolic,Metabolic Disorders, Brain,Acquired Metabolic Diseases, Brain,Acquired Metabolic Diseases, Nervous System,Acquired Metabolic Encephalopathies,Brain Diseases, Metabolic, Acquired,Brain Disorders, Metabolic,Brain Disorders, Metabolic, Acquired,Brain Syndrome, Metabolic,Brain Syndrome, Metabolic, Acquired,CNS Metabolic Disorders,CNS Metabolic Disorders, Acquired,Encephalopathy, Metabolic, Acquired,Metabolic Brain Diseases,Metabolic Brain Diseases, Acquired,Metabolic Brain Syndrome,Metabolic Brain Syndrome, Acquired,Metabolic Brain Syndromes,Metabolic Brain Syndromes, Acquired,Metabolic Diseases, Acquired, Nervous System,Metabolic Disorder, Central Nervous System, Acquired,Metabolic Disorders, CNS,Metabolic Disorders, CNS, Acquired,Metabolic Disorders, Central Nervous System,Metabolic Encephalopathies,Nervous System Acquired Metabolic Diseases,Acquired Metabolic Encephalopathy,Brain Disease, Metabolic,Brain Disorder, Metabolic,Brain Metabolic Disorder,Brain Metabolic Disorders,CNS Metabolic Disorder,Encephalopathies, Acquired Metabolic,Encephalopathy, Acquired Metabolic,Encephalopathy, Metabolic,Metabolic Brain Disease,Metabolic Brain Disorder,Metabolic Brain Disorders,Metabolic Disorder, Brain,Metabolic Disorder, CNS,Metabolic Encephalopathies, Acquired,Metabolic Encephalopathy,Metabolic Encephalopathy, Acquired
D002114	Calcinosis	Pathologic deposition of calcium salts in tissues.	Calcification, Pathologic,Calcinosis, Tumoral,Microcalcification,Microcalcinosis,Pathologic Calcification,Calcinoses,Calcinoses, Tumoral,Microcalcifications,Microcalcinoses,Tumoral Calcinoses,Tumoral Calcinosis
D002256	Carbonic Anhydrases	A family of zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide. They play an important role in the transport of CARBON DIOXIDE from the tissues to the LUNG. EC 4.2.1.1.	Carbonate Dehydratase,Carbonic Anhydrase,Anhydrases, Carbonic,Dehydratase, Carbonate
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
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006947	Hyperkalemia	Abnormally high potassium concentration in the blood, most often due to defective renal excretion. It is characterized clinically by electrocardiographic abnormalities (elevated T waves and depressed P waves, and eventually by atrial asystole). In severe cases, weakness and flaccid paralysis may occur. (Dorland, 27th ed)	Hyperpotassemia,Hyperkalemias,Hyperpotassemias

Related Publications

H Murakami, and S Aramaki, and M Yoshino

Carbonic anhydrase II deficiency.

September 1993, Clinical orthopaedics and related research,

H Murakami, and S Aramaki, and M Yoshino

[Carbonic anhydrase II deficiency].

January 1997, Ryoikibetsu shokogun shirizu,

H Murakami, and S Aramaki, and M Yoshino

Carbonic anhydrase II deficiency.

April 2023, Bone,

H Murakami, and S Aramaki, and M Yoshino

Carbonic anhydrase type II deficiency.

November 2005, American journal of kidney diseases : the official journal of the National Kidney Foundation,

H Murakami, and S Aramaki, and M Yoshino

Paralysis Episodes in Carbonic Anhydrase II Deficiency.

January 2003, Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia,

H Murakami, and S Aramaki, and M Yoshino

Carbonic anhydrase II deficiency a novel mutation.

June 2009, Indian pediatrics,

H Murakami, and S Aramaki, and M Yoshino

[Kidney tubular transport disorders. Carbonic anhydrase II deficiency].

July 1989, Nihon rinsho. Japanese journal of clinical medicine,

H Murakami, and S Aramaki, and M Yoshino

Molecular basis of human carbonic anhydrase II deficiency.

March 1992, Proceedings of the National Academy of Sciences of the United States of America,

H Murakami, and S Aramaki, and M Yoshino

Clinical quiz. Osteopetrosis with carbonic anhydrase II deficiency.

February 1996, Pediatric nephrology (Berlin, Germany),