corticosterone methyloxidase deficiency

コルチコステロンメチルオキシダーゼ欠損症

WordNet

1. secreted by the adrenal cortex; involved in regulating water and electrolyte balance in the body

PrepTutorEJDIC

1. 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥

UpToDate Contents

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• 1. ホスホグリセリン酸キナーゼ欠損症およびホスホグリセリン酸ムターゼ欠損症 phosphoglycerate kinase deficiency and phosphoglycerate mutase deficiency
• 2. アデノシンデアミナーゼ欠損症：治療 adenosine deaminase deficiency treatment
• 3. IgG サブクラス欠乏症 igg subclass deficiency
• 4. ZAP-70欠損症 zap 70 deficiency
• 5. 補体系の遺伝性疾患 inherited disorders of the complement system

English Journal

• Fission yeast Schizosaccharomyces pombe as a new system for the investigation of corticosterone methyloxidase deficiency-causing mutations.

• Tin MK1, Hakki T, Bernhardt R.
• The Journal of steroid biochemistry and molecular biology.J Steroid Biochem Mol Biol.2011 Mar;124(1-2):31-7. doi: 10.1016/j.jsbmb.2011.01.002. Epub 2011 Jan 13.
• The aldosterone synthase, CYP11B2, catalyses the conversion of 11-deoxycorticosterone to aldosterone, a process that requires three steps: a hydroxylation at position 11β to form corticosterone, another one at position 18 to produce 18-hydroxycorticosterone, and, finally, an oxidation at position 1
• PMID 21237269

• Aldosterone synthase deficiency and related disorders.

• White PC1.
• Molecular and cellular endocrinology.Mol Cell Endocrinol.2004 Mar 31;217(1-2):81-7.
• Aldosterone's main actions are to regulate intravascular volume and serum electrolytes by controlling sodium absorbtion and potassium excretion in the distal nephron. Inherited defects in aldosterone biosynthesis thus cause hypovolemia, hyponatremia and hyperkalemia. Defective aldosterone biosynthes
• PMID 15134805

• Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.

• Portrat-Doyen S1, Tourniaire J, Richard O, Mulatero P, Aupetit-Faisant B, Curnow KM, Pascoe L, Morel Y.
• The Journal of clinical endocrinology and metabolism.J Clin Endocrinol Metab.1998 Nov;83(11):4156-61.
• Isolated deficiencies in aldosterone biosynthesis are caused by mutations in the CYP11B2 (aldosterone synthase) gene. Patients with this deficiency have impaired aldosterone synthesis, exhibit increased plasma renin activity, secrete increased amounts of the steroid precursors DOC, corticosterone, a
• PMID 9814506

Japanese Journal

• Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency

• PASCOE L.
• Proc Natl Acad Sci U S A 89, 4996-5000, 1992
• NAID 80006526216

Related Links

• Corticosterone methyloxidase deficiency - Genetics Home ...

Corticosterone methyloxidase deficiency, also known as aldosterone synthase deficiency, is a disorder characterized by excessive amounts of sodium released in the urine (salt wasting), along with insufficient release of ...

• Corticosterone methyloxidase type 1 deficiency - Conditions ...

CMO type I deficiency is an autosomal recessive disorder caused by a defect in the penultimate biochemical step of aldosterone biosynthesis, the 18-hydroxylation of corticosterone (B) to 18-hydroxycorticosterone (18-OHB). This ...

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★リンクテーブル★

リンク元	「CMOII欠損症」「CMOI欠損症」「コルチコステロンメチルオキシダーゼ欠損症I型」
関連記事	「deficiency」「corticosterone」

「CMOII欠損症」

　　[★]

英

CMOII deficiency

同

コルチコステロンメチルオキシダーゼ欠損症 corticosterone methyloxidase deficiency

関

アルドステロン合成酵素

「CMOI欠損症」

　　[★]

英

CMOI deficiency

同

コルチコステロンメチルオキシダーゼ欠損症 corticosterone methyloxidase deficiency

関

アルドステロン合成酵素

「コルチコステロンメチルオキシダーゼ欠損症I型」

　　[★]

英

corticosterone methyloxidase type I deficiency

関

コルチコステロンメチルオキシダーゼ欠損症, corticosterone methyloxidase deficiency

「deficiency」

　　[★]

• n.

• 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
• 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve

　

「corticosterone」

　　[★] コルチコステロン