KEGG   DISEASE: Boudin-Mortier syndrome
Entry
H02654                      Disease                                
Name
Boudin-Mortier syndrome
Description
Boudin-Mortier syndrome is a novel syndrome characterized by tall stature, long digits, and variable connective tissue abnormalities, including aortic dilatation and joint hypermobility. It has been reported that mutations in NPR3 cause this disease. NPR3 encodes the atrial natriuretic peptide clearance receptor.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD28  Syndromes with connective tissue involvement as a major feature
    H02654  Boudin-Mortier syndrome
Gene
NPR3 [HSA:4883] [KO:K12325]
Other DBs
ICD-11: LD28.Y
OMIM: 619543
Reference
PMID:30032985
  Authors
Boudin E, de Jong TR, Prickett TCR, Lapauw B, Toye K, Van Hoof V, Luyckx I, Verstraeten A, Heymans HSA, Dulfer E, Van Laer L, Berry IR, Dobbie A, Blair E, Loeys B, Espiner EA, Wit JM, Van Hul W, Houpt P, Mortier GR
  Title
Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.
  Journal
Am J Hum Genet 103:288-295 (2018)
DOI:10.1016/j.ajhg.2018.06.007
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