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1 OMIM reference -
2 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
Large congenital melanocytic nevus
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia

MC1R PIK3CA
NRAS


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NRAS
(0.71)
PIK3CA



Citations in the biomedical literature:


Large congenital melanocytic nevus
MC1R NRAS
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
PIK3CA



Large congenital melanocytic nevus
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
(no data available)

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

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

Large congenital melanocytic nevus

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


Segmental progressive overgrowth syndrome with fibroadipose hyperplasia

(no data available)