Skin vascular disease

Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.

Start free with Eleplan

Skin vascular disease

ORPHA:79379Category

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

ACVRL1AGGF1ARL6IP6ATMATRENGGDF2GLAGNA11GNAQIDH1IDH2MRE11PIK3CARASA1SAMHD1SMAD4STING1TEKTREX1

Orphanet records these genes on 14 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MEDDRA 10062171MESH D017445MONDO 0019293MONDO 19293UMLS C0162819

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

Powered by Eleplan

A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.

Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.