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巴德-畢德氏症候群
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Bardet–Biedl syndrome | |
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类型 | 常染色体隐性遗传病[*], syndromic obesity[*], disease of a particular individual[*] |
分类和外部资源 | |
醫學專科 | 醫學遺傳學 |
ICD-10 | Q87.8 |
ICD-9-CM | 759.89 |
OMIM | 209900 |
DiseasesDB | 7286 |
MeSH | D020788 |
Orphanet | 110 |
巴德-畢德氏症候群(英語:Bardet–Biedl syndrome)是一種遺傳性疾病,患者出生後會有肥胖、多指、視網膜萎縮、性腺發育不全、腎臟畸形及學習困難等問題。但除視網膜外,大部分症狀都具有高度的異質性,即便在同一家族,患者臨床表現的差異也極為明顯。
其發生率為於各地有不同數字,如北美約為1/100000、瑞典約為1/160000,但科威特地區因近親通婚比例較高而達至1/13500,而紐芬蘭島可能因為共同祖先,盛行率也有1/17500。
遺傳方面,其遺傳方式為致病基因有14個,傳統上認為其為體染色體隱性遺傳,但也可能為較複雜的「三等位基因遺傳」,即指在某個BBS對偶基因產生兩個突變外,還需要再加上另一個BBS基因的突變才會造成異常。
參考資料
外部連結
- Laurence Moon Bardet Biedl Society (UK-based)
- Bardet Biedl Syndrome Family Association (页面存档备份,存于互联网档案馆) a US-based non-profit providing education, support and resources for families affected by BBS
- Bardet Biedl Syndrome Center of Excellence (页面存档备份,存于互联网档案馆) Housed at the Marshfield Clinic, Wisconsin, USA
- The Importance of Being Cilia (页面存档备份,存于互联网档案馆) Accessible article at Howard Hughes Medical Institute on the importance and extensive use of cilia and basal bodies in many organ systems of human physiology. Includes multiple specific mentions of BBS.
- BBS and loss of the sense of smell (页面存档备份,存于互联网档案馆) at Johns Hopkins University
- Overview (页面存档备份,存于互联网档案馆) at United States National Library of Medicine
- Foundation Fighting Blindness
- Bardet–Biedl Syndrome Association francaise (France-based; in French language) Syndrome de Bardet-Biedl (BBS)
- Bardet–Biedl syndrome at GeneReview/UW/NIH (页面存档备份,存于互联网档案馆)
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