KEGG   DISEASE: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
Entry
H02642                      Disease                                
Name
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
Description
Retinal arterial macroaneurysm associated with supravalvular pulmonic stenosis (RAMSVPS) is a rare autosomal recessive condition caused by a splicing mutation in IGFBP7. Recently, two major biological functions have emerged for IGFBP7. The first is related to its tumor suppressor action by blocking the BRAF-MEK-ERK signaling. The second is related to its ability to block VEGF-induced angiogenesis.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the retina
    9B7Y  Other specified disorders of the retina
     H02642  Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
Gene
IGFBP7 [HSA:3490] [KO:K23580]
Other DBs
ICD-11: 9B7Y
OMIM: 614224
Reference
PMID:21835307
  Authors
Abu-Safieh L, Abboud EB, Alkuraya H, Shamseldin H, Al-Enzi S, Al-Abdi L, Hashem M, Colak D, Jarallah A, Ahmad H, Bobis S, Nemer G, Bitar F, Alkuraya FS
  Title
Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms.
  Journal
Am J Hum Genet 89:313-9 (2011)
DOI:10.1016/j.ajhg.2011.07.010
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