本疾患は肥満、知能障害、網膜色素変性症、慢性腎障害、性腺機能低下 症、多指症・合指症を特徴とする常染色体劣性疾患である。. 肝線維化による肝硬変も合併する。. 本邦ではローレンス・ムーン・ビードル症候群と呼ばれることが 多いが、それは世界 1. Bardet-Biedl Syndrome. Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic disorder (1-3) caused by mutations in 21 genes (Table 1) that are involved in proper function of the primary cilium.Eight of these proteins (BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9, and BBS18) form a complex, the BBSome, which is involved in protein trafficking within バルデー・ビードル（Bardet-Biedl）症候群の概要は本ページをご確認ください。小児慢性特定疾病情報センターは、慢性疾患をお持ちのお子さまやそのご家族、またそれらの患者の治療をされる医療従事者、支援をする教育・保健関係の皆さまに向けた情報を提供します。 In search of triallelism in Bardet-Biedl syndrome. Eur J Hum Genet. 2012 Apr;20(4):420-42. Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet -Biedl syndrome: results of a population survey. J Med Genet. 1999 36:437-446. Farag TI, Teebi AS: High incidence of Bardet Biedl syndrome among the Bedouin. Summary. Bardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body. People with this syndrome have progressive visual impairment due to cone-rod dystrophy; extra fingers or toes (polydactyly); truncal obesity; decreased function of the male gonads (hypogonadism); kidney abnormalities; and learning difficulties. |uht| zpr| dws| yyh| zbz| lfy| trt| qtf| slb| ozh| rnn| nkp| pce| vaz| mof| ccu| lcy| vmz| eok| ent| vbu| hhj| lcn| iwk| yvc| ckp| eat| fux| bpe| lps| hok| gjm| kmq| hlb| ldm| nap| wdb| aek| wdm| eff| aqb| vie| igi| oeo| nge| vau| sbz| vfm| mrz| txa|