WordNet

a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/08/25 06:43:31」(JST)

wiki en

Glycogen storage disease type XI is a form of glycogen storage disease.

It is also known as "Fanconi–Bickel syndrome", for Guido Fanconi and Horst Bickel,^[1]^[2] who first described it in 1949.

It is associated with GLUT2,^[3]^[4] a glucose transport protein which, when functioning normally, allows glucose to exit several tissues, including the liver, nephrons,and enterocytes of the intestines, and enter the blood. The syndrome results in hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycaemia, a characteristic proximal tubular nephropathy and severe short stature.^[5]

References

^ synd/65 at Who Named It?
^ FANCONI G, BICKEL H (November 1949). "Not Available". Helv Paediatr Acta 4 (5): 359–96. PMID 15397919.
^ Santer R, Steinmann B, Schaub J (March 2002). "Fanconi–Bickel syndrome--a congenital defect of facilitative glucose transport". Curr. Mol. Med. 2 (2): 213–27. doi:10.2174/1566524024605743. PMID 11949937.
^ Santer R, Groth S, Kinner M et al. (January 2002). "The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi–Bickel syndrome". Hum. Genet. 110 (1): 21–9. doi:10.1007/s00439-001-0638-6. PMID 11810292.
^ Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B (October 1998). "Fanconi–Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature". Eur. J. Pediatr. 157 (10): 783–97. doi:10.1007/s004310050937. PMID 9809815.

External links

Asociación Española de Enfermos de Glucogenosis

This article about an endocrine, nutritional or metabolic disease is a stub. You can help Wikipedia by expanding it.

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. グリコーゲン代謝のその他の障害：GLUT2欠損症およびアルドラーゼA欠損症 other disorders of glycogen metabolism glut2 deficiency and aldolase a deficiency
2. ガラクトース血症：臨床的特徴および診断 galactosemia clinical features and diagnosis
3. グルコースおよびグリコーゲン代謝の遺伝性疾患の概要 overview of inherited disorders of glucose and glycogen metabolism

English Journal

Inhibition of metalloproteinase activity in FANCA is linked to altered oxygen metabolism.

Ravera S1, Capanni C, Tognotti D, Bottega R, Columbaro M, Dufour C, Cappelli E, Degan P.
Journal of cellular physiology.J Cell Physiol.2015 Mar;230(3):603-9. doi: 10.1002/jcp.24778.
Bone marrow (BM) failure, increased risk of myelodysplastic syndrome, acute leukaemia and solid tumors, endocrinopathies and congenital abnormalities are the major clinical problems in Fanconi anemia patients (FA). Chromosome instability and DNA repair defects are the cellular characteristics used f
PMID 25161103

Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family.

Abbasi F1, Azizi F2, Javaheri M2, Mosallanejad A3, Ebrahim-Habibi A4, Ghafouri-Fard S5.
Gene.Gene.2015 Feb 15;557(1):103-5. doi: 10.1016/j.gene.2014.12.024. Epub 2014 Dec 15.
Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, impaired utilization of glucose and galactose, rickets, and severe short stature. It has been shown to be caused by mutations in GLUT2 gene, a
PMID 25523092

Japanese Journal

Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome : revisited gene atlas for renumbering

Clinical and experimental nephrology 16(4), 604-610, 2012-08-01
NAID 10031058262

Fanconi-Bickel Syndrome and Autosomal Recessive Proximal Tubulopathy with Hypercalciuria (ARPTH) Are Allelic Variants Caused by GLUT2 Mutations

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 97(10), E1978-E1986, 2012
NAID 120005597897

Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene

Clinical and experimental nephrology 15(5), 745-748, 2011-10-01
NAID 10030341174

Related Pictures

★リンクテーブル★

リンク元	「ファンコニ・ビッケル症候群」
関連記事	「Fanconi」「syndrome」

「ファンコニ・ビッケル症候群」

Glycogen storage disease type XI
Classification and external resources
OMIM	227810
DiseasesDB	31709

　　[★]

英: Fanconi-Bickel syndrome
同: Fanconi-Bickel症候群
関: GLUT2

[show details]

Fanconi-Bickel症候群 : 32 件
Fanconi-Bickle症候群 : 
ファンコニー・ビッケル症候群 : 5 件

参考

1. OMIM

http://omim.org/entry/227810

「Fanconi」

　　[★]

ファンコニー、ファンコニ、ファンコーニ

「syndrome」

　　[★]

n.

症候群

[1] synd/65 at Who Named It?

[pmid15397919-2] FANCONI G, BICKEL H (November 1949). "Not Available". Helv Paediatr Acta 4 (5): 359–96. PMID 15397919.

[pmid11949937-3] Santer R, Steinmann B, Schaub J (March 2002). "Fanconi–Bickel syndrome--a congenital defect of facilitative glucose transport". Curr. Mol. Med. 2 (2): 213–27. doi:10.2174/1566524024605743. PMID 11949937.

[pmid11810292-4] Santer R, Groth S, Kinner M et al. (January 2002). "The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi–Bickel syndrome". Hum. Genet. 110 (1): 21–9. doi:10.1007/s00439-001-0638-6. PMID 11810292.

[pmid9809815-5] Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B (October 1998). "Fanconi–Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature". Eur. J. Pediatr. 157 (10): 783–97. doi:10.1007/s004310050937. PMID 9809815.

匿名

検索

案内

案内

Fanconi-Bickel syndrome