ODCs

Click node...

Large congenital melanocytic nevus

1 OMIM reference -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Noonan syndrome-like disorder with loose anagen hair

1 OMIM reference -
1 associated gene
30 signs/symptoms

Large congenital melanocytic nevus

Noonan syndrome-like disorder with loose anagen hair

MC1R	(UniProt - OMIM)		SHOC2	(UniProt - OMIM)
NRAS	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	NRAS	(0.84)	SHOC2

Citations in the biomedical literature:

Large congenital melanocytic nevus		Noonan syndrome-like disorder with loose anagen hair
	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 cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease

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

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

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


COMMON SIGNS	- Hydrocephaly

Large congenital melanocytic nevus		Noonan syndrome-like disorder with loose anagen hair
	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 - 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		Very frequent - Delayed bone age - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Low hair line (back) - Low set ears / posteriorly rotated ears - Short stature / dwarfism / nanism - Short / small nose - Webbed neck / pterygium colli Frequent - Absent / decreased / thin eyebrows - Anteverted nares / nostrils - Broad nose / nasal bridge - Cardiomyopathy / hypertrophic / dilated - Epicanthic folds - Long / large ear - Pectus excavatum - Philtrum deeply grooved - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches Occasional - Elbow anomalies(excluding luxation) - Hearing loss / hypoacusia / deafness - High vaulted / narrow palate - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Intervertebral disk anomaly - Multiple caries - Short hand / brachydactyly - Thick lips - Thin / hypoplastic toenails - Thin / hypoplastic / hyperconvex fingernails - Thin / retracted lips - Undescended / ectopic testes / cryptorchidia / unfixed testes