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Familial melanoma
8 OMIM references -
6 associated genes
161 connected diseases
12 signs/symptoms
Disease Type of connection
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Multiple endocrine neoplasia type 1
Familial pancreatic carcinoma
Precursor T-cell acute lymphoblastic leukemia
Precursor B-cell acute lymphoblastic leukemia
Dyskeratosis congenita
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Hoyeraal-Hreidarsson syndrome
Idiopathic aplastic anemia
Idiopathic pulmonary fibrosis
Large congenital melanocytic nevus
Oculocutaneous albinism type 2
Autosomal recessive primary microcephaly
B-cell chronic lymphocytic leukemia
Ear-patella-short stature syndrome
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Acute promyelocytic leukemia
Blackfan-Diamond anemia
Amyotrophic lateral sclerosis
Young adult-onset Parkinsonism
Familial thoracic aortic aneurysm and aortic dissection
Mantle cell lymphoma
Multiple myeloma
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Burkitt lymphoma
Cornelia de Lange syndrome
Baraitser-Winter syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Loeys-Dietz syndrome type 1
Multiple endocrine neoplasia type 4
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Cowden syndrome
Inherited acute myeloid leukemia
Proteus syndrome
Familial retinoblastoma
Monosomy 13q14
Unilateral retinoblastoma
Obesity due to pro-opiomelanocortin deficiency
Adrenocortical carcinoma
Chuvash erythrocytosis
Essential thrombocythemia
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Von Hippel-Lindau disease
Intellectual deficit, X-linked, Turner type
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Anaplastic ependymoma
Autosomal dominant distal renal tubular acidosis
Distal renal tubular acidosis with anemia
Hereditary spherocytosis
Intellectual deficit, X-linked, Nascimento type
Southeast Asian ovalocytosis
Coffin-Siris syndrome
Familial rhabdoid tumor
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Werner syndrome
Agnathia - holoprosencephaly - situs inversus
Combined pituitary hormone deficiencies, genetic forms
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Isolated anophthalmia - microphthalmia
Microcephalic primordial dwarfism due to ZNF335 deficiency
Septo-optic dysplasia
Syndromic microphthalmia type 5
ADULT syndrome
Aneurysm - osteoarthritis syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
Cerebellar ataxia - hypogonadism
Developmental malformations - deafness - dystonia
EEC syndrome
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Lennox-Gastaut syndrome
Limb-mammary syndrome
Lissencephaly due to TUBA1A mutation
MACS syndrome
Methylcobalamin deficiency type cblG
Spinocerebellar ataxia type 26
Split hand-split foot malformation
Beckwith-Wiedemann syndrome due to CDKN1C mutation
IMAGe syndrome
Adult-onset distal myopathy due to VCP mutation
Alexander disease type I
Alexander disease type II
Behavioral variant of frontotemporal dementia
Cabezas syndrome
Cardiofaciocutaneous syndrome
Childhood-onset nemaline myopathy
Cleidocranial dysplasia
Congenital atransferrinemia
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Desmoplastic small round cell tumor
Distal 22q11.2 microdeletion syndrome
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Fabry disease
Familial atrial fibrillation
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Familial dysautonomia
Familial glucocorticoid deficiency
Feingold syndrome type 1
Fibronectin glomerulopathy
Frontotemporal dementia with motor neuron disease
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Hereditary chronic pancreatitis
Hereditary nonpolyposis colon cancer
Infantile Refsum disease
Intermediate nemaline myopathy
Marfan syndrome type 2
Melanoma of soft part
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Monomelic amyotrophy
Neonatal adrenoleukodystrophy
Neuroblastoma
Parkinsonian-pyramidal syndrome
Progressive non-fluent aphasia
Pseudohypoaldosteronism type 2E
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Seckel syndrome
Semantic dementia
Severe congenital nemaline myopathy
Spastic paraplegia - Paget disease of bone
Squamous cell carcinoma of head and neck
Triose phosphate-isomerase deficiency
Typical nemaline myopathy
X-linked distal arthrogryposis multiplex congenita
Zellweger syndrome
Chronic myeloid leukemia
Obesity due to melanocortin 4 receptor deficiency
Acrodysostosis
Acrodysostosis with multiple hormone resistance
Brachydactyly type A2
Brachydactyly type C
CLN2 disease
Carney complex
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Familial atrial myxoma
Mandibular hypoplasia-deafness-progeroid syndrome
Multiple keratoacanthoma, Ferguson-Smith type
Primary pigmented nodular adrenocortical disease
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
8 OMIM references -
No MeSH references
Very frequent
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Melanoma

Frequent
- Anomalies of the lymphatic system
- Dry / squaly skin / exfoliation
- Excessive freckling
- Hair and scalp anomalies

Occasional
- Autosomal dominant inheritance
- Breast neoplasm / tumor / carcinoma / cancer
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Extrapyramidal syndrome
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Retinopathy