familial tumoral calcinosis

家族性腫瘍状石灰化症

WordNet

1. relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
2. occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
3. an abnormal new mass of tissue that serves no purpose (同)tumour, neoplasm

PrepTutorEJDIC

1. 家族の,家族特有の / 違伝的な,血統にあらわれる

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/06/03 12:49:35」(JST)

wiki en

[Wiki en表示]

Normophosphatemic familial tumoral calcinosis is a cutaneous disorder characterized by cutaneous calcification or ossification.

See also

• Progressive systemic sclerosis
• List of cutaneous conditions
• List of genes mutated in cutaneous conditions

References

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. 高リン血症の原因および治療の概要 overview of the causes and treatment of hyperphosphatemia

English Journal

• Tumoral calcinosis--a pathogenetic overview: a histological and ultrastructural study with a report of two new cases, one in infancy.

• Slavin RE, Wen J, Barmada A.Source1Legacy Emanuel Hospital and Health Center, Portland, OR, USA.
• International journal of surgical pathology.Int J Surg Pathol.2012 Oct;20(5):462-73. Epub 2012 May 21.
• Tumoral calcinosis occurs as a well-defined pathologic entity in 3 heterologous groups of diseases-hyperphosphatemic familial tumoral calcinosis, normophosphatemic tumoral calcinosis, and secondary tumoral calcinosis. The histological lesion is stereotypic developing from the concurrence of a juxta-
• PMID 22614164

• Tumoral calcinosis: a dental literature review and case report.

• Krstevska A, Gale S, Blair F.SourceBirmingham Dental Hospital, Birmingham B4 6NN, UK.
• Dental update.Dent Update.2012 Jul-Aug;39(6):416-8, 421.
• Tumoral calcinosis (TC) is a rare familial disease characterized by abnormal peri-articular calcification in affected joints, without any associated renal, metabolic or collagen vascular disease. It is characterized by usual hyperphosphataemia with normal serum calcium and alkaline phosphatase value
• PMID 22928454

Japanese Journal

• Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis

• YANCOVITCH Alan,HERSHKOVITZ Dov,INDELMAN Margareta,GALLOWAY Peter,WHITEFORD Margo,SPRECHER Eli,KILIC Esra
• Journal of bone and mineral metabolism 29(5), 621-625, 2011-09-30
• NAID 10030894814

• 家族性腫瘍状石灰化症におけるポリペプチドGalNAc転移酵素T3の役割 : GalNAc転移酵素の1アイソフォームの重要性

• Kato Kentaro,Clausen Henrik
• Trends in glycoscience and glycotechnology 19(110), 265-270, 2007-11-02
• … GalNAc-T3の遺伝子変異が常染色体劣性代謝性疾患である家族性腫瘍状石灰化症 (familial tumoral calcinosis、FTC) (OMIM 211900) の原因となることが近年明らかにされた。 …
• NAID 10024188520

• Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis

• Barbieri Anna Maria,Filopanti Marcello,Bua Guido [他]
• Journal of Human Genetics 52(5), 464-468, 2007
• NAID 40015357676

Related Links

• Hyperphosphatemic familial tumoral calcinosis - Genetics Home ...

Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by an increase in the levels of phosphate in the blood ( hyperphosphatemia) and abnormal deposits of phosphate and calcium ( calcinosis) in the body's tissues ...

• Clinical variability of familial tumoral calcinosis caused by novel ...

Am J Med Genet A. 2010 Apr;152A(4):896-903. doi: 10.1002/ajmg.a.33337. Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. Ichikawa S, Baujat G, Seyahi A, Garoufali AG, Imel EA, Padgett LR, Austin AM, ...

---

★リンクテーブル★

リンク元	「高リン血症」「家族性腫瘍状石灰化症」
関連記事	「familial」「calcinosis」「tumor」「tumoral」

「高リン血症」

　　[★]

英

hyperphosphatemia

同

高リン酸血症、高リン酸塩血症

関

リン、低リン血症。

[show details]

高リン血症 : 約 40,100 件
高リン酸血症 : 約 41,300 件
高リン血症 hyperphosphatemia : 約 2,780 件
高リン酸血症 hyperphosphatemia : 45 件

病因

QB.D-342

参考1

• 1. リン負荷：腫瘍崩壊症候群、横紋筋融解症、乳酸アシドーシス、ケトアシドーシス、リンの過剰摂取
• 2. 腎不全
• 3. 腎尿細管におけるリン再吸収の増加：副甲状腺機能低下症、先端巨大症(GH ir IGFが直接再吸収を亢進させる)
• 4. ビスホスホネート(再吸収を亢進させることによる)
• 5. ビタミンD中毒
• 6. familial tumoral calcinosis：稀な遺伝疾患。遺伝形式はAR。(参考1に詳細な記載有り)

参考

• 1. [charged] 高リン血症の原因および治療 - uptodate [1]

「家族性腫瘍状石灰化症」

　　[★]

英

familial tumoral calcinosis

病因

Phenotype Gene Relationships
Location	Phenotype	Phenotype	Gene/Locus	Gene/Locus
		MIM number		MIM number
2q24.3	Tumoral calcinosis, hyperphosphatemic, familial	211900	GALNT3	601756
12p13.32	Tumoral calcinosis, hyperphosphatemic, familial	211900	FGF23	605380
13q13.1	Tumoral calcinosis, hyperphosphatemic	211900	KL	604824

参考

• 1. TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC - OMIM

http://omim.org/entry/211900

「familial」

　　[★]

• adj.

• 家族性の、家系性の、家族の

関

family、family member、household、kindred

　 　 　

「calcinosis」

　　[★] 石灰沈着症

関

pathologic calcification

「tumor」

　　[★]

• n.

• 腫瘍、腫瘤、腫脹

　

「tumoral」

　　[★]

• adj.

• 腫瘤の

関

mass、tumor