KEGG   DISEASE: Weill-Marchesani syndrome
Entry
H00673                      Disease                                
Name
Weill-Marchesani syndrome
Description
Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by short stature, brachydactyly, ectopia lentis and spherophakia. Decreased joint flexibility is one of the features of this syndrome.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD21  Syndromes with eye anomalies as a major feature
    H00673  Weill-Marchesani syndrome
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00673  Weill-Marchesani syndrome
Pathway
hsa04820 Cytoskeleton in muscle cells   
Network
nt06539 Cytoskeleton in muscle cells
Gene
(WMS1) ADAMTS10 [HSA:81794] [KO:K08625]
(WMS2) FBN1 [HSA:2200] [KO:K06825]
(WMS3) LTBP2 [HSA:4053] [KO:K08023]
(WMS4) ADAMTS17 [HSA:170691] [KO:K08631]
Other DBs
ICD-11: LD21.Y
ICD-10: Q87.1
MeSH: D056846
OMIM: 277600 608328 614819 613195
Reference
PMID:14598350
  Authors
Faivre L, Dollfus H, Lyonnet S, Alembik Y, Megarbane A, Samples J, Gorlin RJ, Alswaid A, Feingold J, Le Merrer M, Munnich A, Cormier-Daire V
  Title
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.
  Journal
Am J Med Genet A 123A:204-7 (2003)
DOI:10.1002/ajmg.a.20289
Reference
PMID:20301293
  Authors
Tsilou E, MacDonald IM
  Title
Weill-Marchesani Syndrome
  Journal
GeneReviews (1993)
Reference
PMID:19836009 (WMS1_4)
  Authors
Morales J, Al-Sharif L, Khalil DS, Shinwari JM, Bavi P, Al-Mahrouqi RA, Al-Rajhi A, Alkuraya FS, Meyer BF, Al Tassan N
  Title
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.
  Journal
Am J Hum Genet 85:558-68 (2009)
DOI:10.1016/j.ajhg.2009.09.011
Reference
PMID:12525539 (WMS2)
  Authors
Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V
  Title
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.
  Journal
J Med Genet 40:34-6 (2003)
DOI:10.1136/jmg.40.1.34
Reference
PMID:22539340 (WMS3)
  Authors
Haji-Seyed-Javadi R, Jelodari-Mamaghani S, Paylakhi SH, Yazdani S, Nilforushan N, Fan JB, Klotzle B, Mahmoudi MJ, Ebrahimian MJ, Chelich N, Taghiabadi E, Kamyab K, Boileau C, Paisan-Ruiz C, Ronaghi M, Elahi E
  Title
LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.
  Journal
Hum Mutat 33:1182-7 (2012)
DOI:10.1002/humu.22105
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