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1 OMIM reference -
2 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
3 associated genes
4 signs/symptoms
Large congenital melanocytic nevus
Well-differentiated liposarcoma

MC1R CDK4
NRAS HMGA2
MDM2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NRAS
(0.63)
MDM2



Citations in the biomedical literature:


Large congenital melanocytic nevus
MC1R NRAS
Well-differentiated liposarcoma
CDK4 HMGA2 MDM2



Large congenital melanocytic nevus
Well-differentiated liposarcoma

Synonym(s):
- Congenital pigmented nevus
- GMN
- Giant congenital melanocytic nevus
- Giant pigmented hairy nevus
- LCMN

Synonym(s):
- ALT
- Atypical lipoma
- Atypical lipomatous tumor
- WDLS

Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare oncologic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic

External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references


COMMON
SIGNS
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling


Large congenital melanocytic nevus
Well-differentiated liposarcoma

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)


Occasional
- Functional anomalies of the kidney and the urinary tract
- Intestinal transit disorder