Familial melanoma

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Familial melanoma

ORPHA:618Disease

What it is

Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degree relatives or more relatives in an affected family.

Key facts

Prevalence
1-9 / 100 000 (annual incidence, Europe)
Age of onset
Adult
Inheritance
Autosomal dominant, Multigenic/multifactorial
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

ACDMajor susceptibility factor
BAP1Major susceptibility factor
CDK4Major susceptibility factor
CDKN2AMajor susceptibility factor
MC1RMajor susceptibility factor
MGMTMajor susceptibility factor
MITFMajor susceptibility factor
POT1Major susceptibility factor
TERF2IPMajor susceptibility factor
TERTMajor susceptibility factor
CDKN2BCandidate gene tested

ICD-10 codes

C43.0ICD-10 uses a narrower term
C43.1ICD-10 uses a narrower term
C43.2ICD-10 uses a narrower term
C43.3ICD-10 uses a narrower term
C43.4ICD-10 uses a narrower term
C43.5ICD-10 uses a narrower term
C43.6ICD-10 uses a narrower term — shared with 1 other rare disease
C43.7ICD-10 uses a narrower term — shared with 1 other rare disease
C43.8ICD-10 uses a narrower term

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 3460MONDO 0018961OMIM 155600OMIM 155601OMIM 155700OMIM 608035OMIM 609048OMIM 613099OMIM 613972OMIM 615134OMIM 615848UMLS C1512419

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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