Rare skin tumor or hamartoma

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Rare skin tumor or hamartoma

ORPHA:79386Category

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

ACDBAP1BRAFCDK4CDKN2ACDKN2BCOL1A1CREB1CTNNB1ERBB2EWSR1FGFR1FHFLCNIFNGKRASMAP2K2MC1RMGMTMITFNF1NOTCH3PDGFBPDGFRBPIK3CAPOT1PRDM10PTCH1PTCH2SUFUTERF2IPTERTTGFBR1TSC1TSC2

Orphanet records these genes on 16 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

MONDO 19300UMLS C5681474

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.

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