IGFBP7 gene related symptoms and diseases
All the information presented here about the IGFBP7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to IGFBP7 gene
Symptoms // Phenotype | % Cases |
---|---|
Visual loss | Very Common - Between 80% and 100% cases |
Pulmonic stenosis | Very Common - Between 80% and 100% cases |
Vasculitis | Very Common - Between 80% and 100% cases |
Abnormal retinal morphology | Very Common - Between 80% and 100% cases |
Exudative retinal detachment | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with IGFBP7 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Retinal arterial macroaneurysms
Rare diseases associated to IGFBP7 gene
Here you will find a list of rare diseases related to the IGFBP7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FAMILIAL RETINAL ARTERIAL MACROANEURYSM
Alternate names
FAMILIAL RETINAL ARTERIAL MACROANEURYSM Is also known as fram, retinal arterial macroaneurysm and supravalvular pulmonic stenosis
Description
Familial retinal arterial macroaneurysm is a rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction.
Most common symptoms of FAMILIAL RETINAL ARTERIAL MACROANEURYSM
- Visual loss
- Pulmonic stenosis
- Vasculitis
- Abnormal retinal morphology
- Exudative retinal detachment
More info about FAMILIAL RETINAL ARTERIAL MACROANEURYSM
Search interest in IGFBP7
Potential gene panels for IGFBP7 gene
IGFBP7 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IGFBP7 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like COL1A2 NEB MAF DHTKD1 PFN1 FBN2 AASS