WordNet

an impairment of health or a condition of abnormal functioning
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
a city of northern Morocco at the west end of the Strait of Gibraltar; "the first tangerines were shipped from Tangier to Europe in 1841" (同)Tangiers

PrepTutorEJDIC

(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
女性の話術芸人 =diseur
病気にかかった / 病的な,不健全な(morbid)

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/07/15 08:18:55」(JST)

wiki en

Tangier disease (also known as Familial alpha-lipoprotein deficiency^[1]^:535) or Hypoalphalipoproteinemia is a rare inherited disorder characterized by a severe reduction in the amount of high density lipoprotein (HDL), often referred to as "good cholesterol," in the bloodstream.

History

In 1959, a five year old patient named Teddy Laird from Tangier Island, Virginia, presented with strikingly large and yellow-orange tonsils which were removed by armed forces physicians. After initial diagnosis with Niemann-Pick he was transferred to Dr. Louis Avioli at the National Cancer Institute. Donald Fredrickson, then head of the Molecular Disease Branch, became aware of the case and had a hunch that the original diagnosis was incorrect. In 1960 he traveled with Dr. Avioli to Tangier Island for further investigation. After finding the same symptom in Teddy's sister and investigation revealing an extremely high number of foam cells in not only the tonsils but a wide range of tissues including the bone marrow and spleen, a second trip to the island was made and the discovery was made of very low HDL cholesterol in both the sister and parents of Teddy, evidence for a genetic basis of the disease. ^[2]

Diagnosis

Diffuse hazy opacity of the right cornea in a patient with Tangier disease.

High-density lipoproteins are created when a protein in the bloodstream, Apolipoprotein A1 (apoA1), combines with cholesterol and phospholipids. The cholesterol and phospholipids used to form HDL originate from inside cells but are transported out of the cell into the blood via the ABCA1 transporter. People with Tangier disease have defective ABCA1 transporters^[3] resulting in a greatly reduced ability to transport cholesterol out of their cells, which leads to an accumulation of cholesterol in many body tissues. Reduced blood levels of high-density lipoproteins is sometimes described as hypoalphalipoproteinemia.

People affected by this condition also have slightly elevated amounts of fat in the blood (mild hypertriglyceridemia) and disturbances in nerve function (neuropathy). The tonsils are visibly affected by this disorder; they frequently appear orange or yellow and are extremely enlarged. Affected people often develop premature atherosclerosis, which is characterized by fatty deposits and scar-like tissue lining the arteries. Other signs of this condition may include an enlarged spleen (splenomegaly), an enlarged liver (hepatomegaly), clouding of the cornea, and early-onset cardiovascular disease.

Tangier disease is a rare disorder with approximately 50 cases identified worldwide. This disorder was originally discovered on Tangier Island off the coast of Virginia, but has now been identified in people from many different countries.

Genetics

Tangier disease has an autosomal recessive pattern of inheritance.

Mutations to chromosome 9q31 lead to a defective ABCA1 transporter. These mutations prevent the ABCA1 protein from effectively transporting cholesterol and phospholipids out of cells for pickup by ApoA1 in the bloodstream. This inability to transport cholesterol out of cells leads to a deficiency of high-density lipoproteins in the circulation, which is a risk factor for coronary artery disease. Additionally, the buildup of cholesterol in cells can be toxic, causing cell death or impaired function. These combined factors lead to the signs and symptoms of Tangier disease.

This condition is inherited in an autosomal recessive pattern. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.

References

^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
^ When a Gene Makes You Smell Like A Fish - Published 1990 Received From the Tangier History Museum"
^ Rust S, Rosier M, Funke H, et al. (August 1999). "Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1". Nat. Genet. 22 (4): 352–5. doi:10.1038/11921. PMID 10431238.

External links

Tangier disease at NLM Genetics Home Reference
http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997%20Case%20Studies/J.%20Newman1.html

UpToDate Contents

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1. 全身疾患と関連した遺伝性ニューロパチー hereditary neuropathies associated with generalized disorders
2. HDLコレステロール：異常値の臨床的側面 hdl cholesterol clinical aspects of abnormal values
3. Stomatocytosis and xerocytosis
4. リポ蛋白の分類、代謝、およびアテローム性動脈硬化症における役割 lipoprotein classification metabolism and role in atherosclerosis
5. 遺伝性ニューロパチーの概要 overview of hereditary neuropathies

English Journal

Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease.

Zyss J, Béhin A, Couvert P, Bouhour F, Sassolas A, Kolev I, Denys V, Vial C, Lacour A, Carrié A, Stojkovic T.SourceService de Neurologie Neurovasculaire, Groupe Hospitalier Paris-Saint Joseph, 185 rue Raymond Losserand, 75014, Paris, France, juliezyss@yahoo.fr.
Journal of neurology.J Neurol.2011 Dec 17. [Epub ahead of print]
Tangier disease (TD) (OMIM#205400) is a rare autosomal recessive disorder resulting from mutations in the ABCA1 gene, leading to decreased levels of plasma high-density lipoproteins (HDL). Peripheral neuropathy is a common finding in this disease, and may present as relapsing/remitting mono/polyneur
PMID 22179783

Recurrent Lobar Intracerebral Hemorrhage in Tangier Disease.

Feng W, Sidorov E, Smith K, Selim M.SourceDepartment of Neurology, Division of Cerebrovascular Diseases, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association.J Stroke Cerebrovasc Dis.2011 Nov 29. [Epub ahead of print]
We report a patient with familial α-lipoprotein deficiency (Tangier disease) who presented with recurrent lobar intracerebral hemorrhages and accumulating microbleeds on T∗2-weighted magnetic resonance imaging, suggestive of probable cerebral amyloid angiopathy. This case provides new insight int
PMID 22133743

Japanese Journal

コレステロール代謝異常症 : 細胞内コレステロールの代謝調節と膜輸送トランスポーターの異常について

玉澤直樹
臨床病理 58(12), 1203-1210, 2010-12-25
NAID 10029426662

Impaired Insulin Secretion in Four Tangier Disease Patients with ABCA1 Mutations

KOSEKI Masahiro,MATSUYAMA Akifumi,NAKATANI Kazuhiro,INAGAKI Miwako,NAKAOKA Hajime,KAWASE Ryota,YUASA KAWASE Miyako,TSUBAKIO YAMAMOTO Kazumi,MASUDA Daisaku,SANDOVAL Jose C.,OHAMA Tohru,NAKAGAWA TOYAMA Yumiko,MATSUURA Fumihiko,NISHIDA Makoto,ISHIGAMI Masato,HIRANO Ken-ichi,SAKANE Naoki,KUMON Yoshitaka,SUEHIRO Tadashi,NAKAMURA Tadashi,SHIMOMURA Iichiro,YAMASHITA Shizuya
Journal of atherosclerosis and thrombosis 16(3), 292-296, 2009-06-30
NAID 10025765868

Related Pictures

★リンクテーブル★

リンク元	「タンジール病」「無αリポタンパク血症」「analphalipoproteinemia」「タンジエール病」
関連記事	「disease」

「タンジール病」

Tangier disease
	Classification and external resources
ICD-10	E78.6
ICD-9	272.5
OMIM	205400
DiseasesDB	12901
MeSH	D013631

　　[★]

英: Tangier disease
同: タンジエール病、Tangier病、無αリポ蛋白血症 analphalipoproteinemia、家族性高密度リポ蛋白質欠損症 familial high-density lipoprotein deficiency
関: 無αリポタンパク血症、アポリポタンパク欠損症

[show details]

タンジール病 : 約 1,630 件
タンジエール病 : 9 件
Tangier病 : 約 806 件

「無αリポタンパク血症」

　　[★]

英: alpha-lipoprotein deficiency
同: タンジール病 Tangier disease
関: アポリポタンパク欠損症

「analphalipoproteinemia」

　　[★]

無αリポ蛋白血症、無αリポタンパク質血症

関: Tangier disease

「タンジエール病」

　　[★]

英: Tangier disease
関: タンジール病、Tangier病

「disease」

　　[★]

n.

疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)

特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)

something that is very wrong with people's attitudes, way of life or with society.

関: ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness

注意

disease ≠ illness ≠ disorder

[Andrews-1] James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.

[2] When a Gene Makes You Smell Like A Fish - Published 1990 Received From the Tangier History Museum"

[pmid10431238-3] Rust S, Rosier M, Funke H, et al. (August 1999). "Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1". Nat. Genet. 22 (4): 352–5. doi:10.1038/11921. PMID 10431238.

匿名

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案内

案内

Tangier disease