| H00950 | |
| H番号 | H00950 |
| 名称 | ARC 症候群 |
| 概要 | Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a fatal multisystem disorder that causes neonatal intrahepatic cholestasis. It also exhibits notable clinical variability showing anemia, ichthyosis, and diarrhoea. Mutations in VPS33B have been found in 75% cases of ARC syndrome. Individuals without VPS33B defects have mutations in VIPAR that forms a functional complex with VPS33B. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | VPS33B [HSA:26276] [KO:K23281] VIPAR [HSA:63894] [KO:K23287] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C58.0Y ICD-10: Q89.7 MeSH: C535382 OMIM: 208085 613404 |
| 文献 | PMID:11668108 著者 Eastham KM, McKiernan PJ, Milford DV, Ramani P, Wyllie J, van't Hoff W, Lynch SA, Morris AA タイトル ARC syndrome: an expanding range of phenotypes. 雑誌 Arch Dis Child 85:415-20 (2001) DOI:10.1136/adc.85.5.415 PMID:8529684 著者 Di Rocco M, Callea F, Pollice B, Faraci M, Campiani F, Borrone C タイトル Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families. 雑誌 Eur J Pediatr 154:835-9 (1995) DOI:10.1007/BF01959793 PMID:20190753 著者 Cullinane AR, Straatman-Iwanowska A, Zaucker A, Wakabayashi Y, Bruce CK, Luo G, Rahman F, Gurakan F, Utine E, Ozkan TB, Denecke J, Vukovic J, Di Rocco M, Mandel H, Cangul H, Matthews RP, Thomas SG, Rappoport JZ, Arias IM, Wolburg H, Knisely AS, Kelly DA, Muller F, Maher ER, Gissen P タイトル Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. 雑誌 Nat Genet 42:303-12 (2010) DOI:10.1038/ng.538 PMID:19274792 著者 Jang JY, Kim KM, Kim GH, Yu E, Lee JJ, Park YS, Yoo HW タイトル Clinical characteristics and VPS33B mutations in patients with ARC syndrome. 雑誌 J Pediatr Gastroenterol Nutr 48:348-54 (2009) DOI:10.1097/MPG.0b013e31817fcb3f PMID:16492441 著者 Bull LN, Mahmoodi V, Baker AJ, Jones R, Strautnieks SS, Thompson RJ, Knisely AS タイトル VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype. 雑誌 J Pediatr 148:269-71 (2006) DOI:10.1016/j.jpeds.2005.10.005 |