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familial retinal arterial macroaneurysm (FRAM) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial retinal arterial macroaneurysm

MONDO:0013640

Also known as:FRAMretinal arterial macroaneurysm and supravalvular pulmonic stenosisRAMSVPS

Overview

GeneticsAutosomal recessive · IGFBP7 (chr 4)

ResearchLimited published research (1 article)

Clinical Presentation

Features include always present findings: Retinal arterial macroaneurysms and Pulmonic stenosis. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Exudative retinal detachment, Retinal arterial macroaneurysms

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

IGFBP7 encodes insulin like growth factor binding protein 7 (282 aa). Binds IGF1 and IGF2 with a relatively low affinity. Stimulates prostacyclin (PGI2) production. Stimulates cell adhesion. Acts as a ligand for CD93 to play a role in angiogenesis Highest expression in Artery Aorta (5,639 TPM) and Artery Tibial (4,251 TPM).

Familial retinal arterial macroaneurysm is associated with mutations in the IGFBP7 gene on chromosome 4.

The IGFBP7 protein participates in AP-1 stimulates transcription of IGFBP7, p-2S-JUN:p-2S,2T-FOS:IGFBP7 Gene, and Senescence-Associated Secretory Phenotype (SASP) pathways.

IGFBP7 is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for IGFBP7 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for familial retinal arterial macroaneurysm.

1 publication has been identified in PubMed for familial retinal arterial macroaneurysm. Research spans Review / Meta-Analysis (100%).

Recent Publications

Lit KK (2024). [PMID: 39045455](https://pubmed.ncbi.nlm.nih.gov/39045455/). *Frontiers in cell and developmental biology*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:15 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614224

Orphanet

European rare disease database

Orphanet:284247

GARD

Genetic and Rare Diseases Info Center

GARD:12779

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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familial retinal arterial macroaneurysm

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team