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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
14 signs/symptoms
CLOVE syndrome
Large congenital melanocytic nevus

PIK3CA MC1R
NRAS


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


CLOVE syndrome
PIK3CA
Large congenital melanocytic nevus
MC1R NRAS



CLOVE syndrome
Large congenital melanocytic nevus

Synonym(s):
- Congenital lipomatous overgrowth - vascular malformation - epidermal nevi

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

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
(no data available)

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


CLOVE syndrome

(no data available)