ODCs

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1 OMIM reference -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
21 signs/symptoms

Large congenital melanocytic nevus

Fibrodysplasia ossificans progressiva

MC1R	(UniProt - OMIM)		ACVR1	(UniProt - OMIM)
NRAS	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	NRAS	(0.52)	ACVR1

Citations in the biomedical literature:

Large congenital melanocytic nevus		Fibrodysplasia ossificans progressiva
	Synonym(s): - Congenital pigmented nevus - GMN - Giant congenital melanocytic nevus - Giant pigmented hairy nevus - LCMN		Synonym(s): - FOP - Man of stone - Myositis ossificans progressiva

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

	Classification (ICD10): - Neoplasms -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

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

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D009221


COMMON SIGNS	- Seizures / epilepsy / absences / spasms / status epilepticus - Subcutaneous nodules / lipomas / tumefaction / swelling

Large congenital melanocytic nevus		Fibrodysplasia ossificans progressiva
	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 - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma		Very frequent - Anomalies of cartilages, joints and periarticular tissue - Anomalies of spine, vertebrae and pelvis - Autosomal dominant inheritance - Big toe anomaly (excluding absence) - Muscle ossification - Restricted joint mobility / joint stiffness / ankylosis - Rigid spine - Short big toe Frequent - Clinodactyly of fifth finger - Hearing loss / hypoacusia / deafness - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Thumb hypoplasia / aplasia / absence Occasional - Anaemia - Failure to thrive / difficulties for feeding in infancy / growth delay - Glaucoma - Hallux valgus - Intellectual deficit / mental / psychomotor retardation / learning disability - Synostosis