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Retinal arterial macroaneurysm with supravalvular pulmonic stenosis(RAMSVPS)

MedGen UID:
481835
Concept ID:
C3280205
Disease or Syndrome
Synonyms: RAMSVPS
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, Orphanet
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene (location): IGFBP7 (4q12)
OMIM®: 614224
Orphanet: ORPHA284247

Definition

Retinal arterial macroaneurysm is an autosomal recessive condition characterized by the bilateral appearance of 'beading' along the major retinal arterial trunks, with the subsequent formation of macroaneurysms. Affected individuals also have supravalvular pulmonic stenosis, often requiring surgical correction (summary by Abu-Safieh et al., 2011). [from OMIM]

Clinical features

Exudative retinal detachment
MedGen UID:
506711
Concept ID:
CN168639
Finding
A type of retinal detachment associated with leakage of fluid (exudate) from under the retina.
Pulmonic stenosis
MedGen UID:
504885
Concept ID:
CN001495
Finding
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGRetinal arterial macroaneurysm with supravalvular pulmonic stenosis
Follow this link to review classifications for Retinal arterial macroaneurysm with supravalvular pulmonic stenosis in Orphanet.

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