congenital melanin deficiency

WordNet

1. present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
2. insoluble pigments that account for the color of e.g. skin and scales and feathers

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
2. (病気・身体的欠陥など)生まれつきの,先天的な
3. メラニン(皮膚・毛髪などに見られる黒色色素)

UpToDate Contents

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• 1. 小児における原発性副腎不全の原因および臨床症状 causes and clinical manifestations of primary adrenal insufficiency in children
• 2. 色素沈着過剰を有する患者へのアプローチ approach to the patient with hyperpigmentation disorders
• 3. 銅欠乏性脊髄神経障害 copper deficiency myeloneuropathy
• 4. 食物中の微量ミネラルの概要 overview of dietary trace minerals
• 5. 小児における中枢性副腎不全の原因および臨床症状 causes and clinical manifestations of central adrenal insufficiency in children

English Journal

• [Hypomelanoses transmitted from generation to generation].

• Otręba M1, Buszman E1, Miliński M1, Wrześniok D1.
• Postȩpy higieny i medycyny doświadczalnej (Online).Postepy Hig Med Dosw (Online).2014 Sep 3;68:1081-90.
• Inherited diseases of pigmentation were among the first traits studied in humans because of their easy recognition. This article presents selected hypopigmentary disorders, which can be divided into hypomelanocytoses and hypomelanoses. Hereditary hypomelanoses are caused by abnormal melanin biosynth
• PMID 25228517

• snow white, a zebrafish model of Hermansky-Pudlak Syndrome type 5.

• Daly CM1, Willer J, Gregg R, Gross JM.
• Genetics.Genetics.2013 Oct;195(2):481-94. doi: 10.1534/genetics.113.154898. Epub 2013 Jul 26.
• Hermansky-Pudlak Syndrome (HPS) is a set of genetically heterogeneous diseases caused by mutations in one of nine known HPS genes. HPS patients display oculocutaneous hypopigmentation and bleeding diathesis and, depending on the disease subtype, pulmonary fibrosis, congenital nystagmus, reduced visu
• PMID 23893484

Related Links

• Melanin and Disease - Health News and Information - News ...

Melanin deficiency has previously been associated with various genetic abnormalities and congenital defects. Melanin is a vital pigment producing compound responsible for determining the colour of skin and hair. A deficiency in ...

• Melaninとは - goo Wikipedia (ウィキペディア)

Melaninとは？goo Wikipedia (ウィキペディア) 。出典：Wikipedia（ウィキペディア）フリー百科事典。 Melaninとは - goo Wikipedia (ウィキペディア) gooトップ サイトマップ スタートページに設定 RSS ヘルプ メニューへスキップ 本文へ メール ...

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★リンクテーブル★

リンク元	「白皮症」
関連記事	「deficiency」「congenita」「congenital」

「白皮症」

　　[★]

英

albinism, leukopathia

同

白子症、先天性メラニン欠乏症 congenital melanin deficiency

関

アルビノ albino、白化、白化個体、白色種、白児症

「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

　

「congenita」

　　[★]

• adj.

• (後置するラテン語形容詞)先天性の

関

congenital、congenitally

• ex.

• dyskeratosis congenita、myotonia congenita

「congenital」

　　[★]

• adj.

• 生まれつきの、先天的な