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Large congenital melanocytic nevus
1 OMIM reference -
2 associated genes
34 connected diseases
14 signs/symptoms
Disease Type of connection
Noonan syndrome
Autoimmune lymphoproliferative syndrome
Familial melanoma
Juvenile myelomonocytic leukemia
Oculocutaneous albinism type 2
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
LEOPARD syndrome
Pilocytic astrocytoma
Obesity due to pro-opiomelanocortin deficiency
Noonan syndrome-like disorder with loose anagen hair
CLOVE syndrome
Cowden syndrome
Hemimegalencephaly
Hereditary nonpolyposis colon cancer
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Congenital atransferrinemia
Dedifferentiated liposarcoma
Familial glucocorticoid deficiency
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Well-differentiated liposarcoma
X-linked distal arthrogryposis multiplex congenita
Obesity due to melanocortin 4 receptor deficiency
Familial pancreatic carcinoma
Fibrodysplasia ossificans progressiva
Follicular lymphoma
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Intravascular large B-cell lymphoma
Myhre syndrome
Aicardi-Goutières syndrome
Synonym(s):
- Congenital pigmented nevus
- GMN
- Giant congenital melanocytic nevus
- Giant pigmented hairy nevus
- LCMN
Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Neoplasms -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MC1R Q01726155555
NRAS P01111164790
Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Scalp cyst / giant nevus

Frequent
- Hirsutism / hypertrichosis / Increased body hair
- Neoplasms / tumors

Occasional
- Hydrocephaly
- Irregular / patchy skin hypopigmentation
- Melanoma
- Pruritus / itching
- Sarcoma
- Seizures / epilepsy / absences / spasms / status epilepticus
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling