| 词条 | De Barsy syndrome |
| 释义 |
| name = | synonyms = | image = Autosomal recessive - en.svg | caption = De Barsy syndrome is inherited in an autosomal recessive manner. | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa (loose hanging skin) as well as other eye, musculoskeletal, and neurological abnormalities.[1] It is usually progressive, manifesting side effects that can include clouded corneas, cataracts, short stature, dystonia, or progeria (premature aging).[2] It was first described in 1967 by De Barsy et al. and, as of 2011, there have been 27 cases reported worldwide.[3] The genes that cause De Barsy syndrome have not been identified yet,[2] although several studies have narrowed down the symptoms' cause.[4] A study by Reversade et al. has shown that a mutation in PYCR1, the genetic sequence that codes for mitochondrial enzymes that break down proline, are prevalent in cases of autosomal recessive cutis laxa (ARCL), a condition very similar to De Barsy syndrome.[5] A study by Leao-Teles et al. has shown that De Barsy syndrome may be related to mutations in ATP6V0A2 gene, known as ATP6V0A2-CDG by the new naming system.[4] Alternative names for De Barsy syndrome include corneal clouding-cutis laxa-mental retardation, cutis laxa-growth deficiency syndrome, De Barsy–Moens–Diercks syndrome, and progeroid syndrome of De Barsy.[1] References1. ^1 {{cite web| publisher=Cigna| title=De Barsy Syndrome| accessdate=2011-08-14| url=http://www.cigna.com/healthinfo/nord979.html}} 2. ^1 {{cite journal |pages=1099–110 |doi=10.1038/ejhg.2009.22 |pmc=2986595 |title=Autosomal recessive cutis laxa syndrome revisited |year=2009 |last1=Morava |first1=Éva |last2=Guillard |first2=Maïlys |last3=Lefeber |first3=Dirk J |last4=Wevers |first4=Ron A |journal=European Journal of Human Genetics |volume=17 |issue=9 |pmid=19401719}} 3. ^{{cite journal |pages=99–107 |doi=10.1097/MCD.0b013e3282f4a964 |title=De Barsy syndrome: A review of the phenotype |year=2008 |last1=Kivuva |first1=Emma C. |last2=Parker |first2=Michael J. |last3=Cohen |first3=Marta C. |last4=Wagner |first4=Bart E. |last5=Sobey |first5=Glenda |journal=Clinical Dysmorphology |volume=17 |issue=2 |pmid=18388779}} 4. ^1 {{cite journal |doi=10.1038/ejhg.2009.218 |pmc=2987315 |title=De Barsy syndrome and ATP6V0A2-CDG |year=2009 |last1=Leao-Teles |first1=Elisa |last2=Quelhas |first2=Dulce |last3=Vilarinho |first3=Laura |last4=Jaeken |first4=Jaak |journal=European Journal of Human Genetics |volume=18 |issue=5 |pages=526 |pmid=20010974}} 5. ^{{cite journal |pages=1016–21 |doi=10.1038/ng.413 |title=Mutations in PYCR1 cause cutis laxa with progeroid features |year=2009 |last1=Reversade |first1=Bruno |last2=Escande-Beillard |first2=Nathalie |last3=Dimopoulou |first3=Aikaterini |last4=Fischer |first4=Björn |last5=Chng |first5=Serene C |last6=Li |first6=Yun |last7=Shboul |first7=Mohammad |last8=Tham |first8=Puay-Yoke |last9=Kayserili |first9=Hülya |last10=Al-Gazali |first10=Lihadh |last11=Shahwan |first11=Monzer |last12=Brancati |first12=Francesco |last13=Lee |first13=Hane |last14=O'Connor |first14=Brian D |last15=Kegler |first15=Mareen Schmidt-von |last16=Merriman |first16=Barry |last17=Nelson |first17=Stanley F |last18=Masri |first18=Amira |last19=Alkazaleh |first19=Fawaz |last20=Guerra |first20=Deanna |last21=Ferrari |first21=Paola |last22=Nanda |first22=Arti |last23=Rajab |first23=Anna |last24=Markie |first24=David |last25=Gray |first25=Mary |last26=Nelson |first26=John |last27=Grix |first27=Arthur |last28=Sommer |first28=Annemarie |last29=Savarirayan |first29=Ravi |last30=Janecke |first30=Andreas R |journal=Nature Genetics |volume=41 |issue=9 |pmid=19648921|display-authors=8 }} External links{{Medical resources| ICD10 = none | ICD9 = none | DiseasesDB = 33717 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | eMedicine_mult = | MeshID = C535990 | Orphanet = 2962 }}
4 : Genetic diseases and disorders|Autosomal recessive disorders|Progeroid syndromes|Rare syndromes |
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