Familial melanoma

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr: 618
OMIM Id: 155600
155601
608035
609048
613099
613972
615134
ICD-10: C43
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Multifactorial
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic skin tumor
 -Rare genetic disease
Palpebral malignant melanoma
 -Rare eye disease
 -Rare genetic disease
Rare skin tumor or hamartoma
 -Rare oncologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000488) Retinopathy Occasional [Orphanet] 75 / 7739
2
 (HPO:0007716) Intraocular melanoma 5 / 7739
3
 (HPO:0000478) Abnormality of the eye 126 / 7739
4
 (HPO:0002071) Abnormality of extrapyramidal motor function Occasional [Orphanet] 76 / 7739
5
 (HPO:0100013) Neoplasm of the breast Occasional [Orphanet] 18 / 7739
6
 (HPO:0006753) Neoplasm of the stomach Occasional [Orphanet] 13 / 7739
7
 (HPO:0002894) Neoplasm of the pancreas Occasional [Orphanet] 17 / 7739
8
 (HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739
9
 (HPO:0001074) Atypical nevi in non-sun exposed areas 2 / 7739
10
 (HPO:0000958) Dry skin Frequent [Orphanet] 152 / 7739
11
 (HPO:0007587) Numerous pigmented freckles Frequent [Orphanet] 22 / 7739
12
 (HPO:0001062) Atypical nevus 3 / 7739
13
 (HPO:0012056) Cutaneous melanoma 10 / 7739
14
 (HPO:0001054) Numerous nevi 8 / 7739
15
 (HPO:0001595) Abnormality of the hair Frequent [Orphanet] 89 / 7739
16
 (HPO:0002861) Melanoma Very frequent [Orphanet] 18 / 7739
17
 (HPO:0100763) Abnormality of the lymphatic system Frequent [Orphanet] 18 / 7739
18
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: