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1 OMIM reference -
2 associated genes
20 signs/symptoms

PROTEIN INTERACTIONS: 1

Parkes Weber syndrome

1 OMIM reference -
1 associated gene
14 signs/symptoms

Piebaldism

Parkes Weber syndrome

KIT	(UniProt - OMIM)		RASA1	(UniProt - OMIM)
SNAI2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KIT	(0.83)	RASA1

Citations in the biomedical literature:

Piebaldism		Parkes Weber syndrome

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D016116		External references: 1 OMIM reference - No MeSH references

Piebaldism		Parkes Weber syndrome
	Very frequent - Autosomal dominant inheritance - Decreased hair pigmentation / hypopigmentation of hair - Irregular / patchy skin hypopigmentation - White forelock / piebaldism Frequent - Anomalies of eyelids, eyelashes and lacrimal system - Irregular / in bands / reticular skin hyperpigmentation - Macules Occasional - Anomalies of mouth, lip and philtrum - Ataxia / incoordination / trouble of the equilibrium - Brachycephaly / flat occiput - Broad nasal root - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Hearing loss / hypoacusia / deafness - Heterochromia / mixed colouring of iris - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum - Microcephaly - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Synophris / synophrys		Very frequent - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Global upper and lower limbs anomalies - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Muscle hypertrophy - Peripheral arteriovenous fistula - Telangiectasiae of the skin - Upper limb asymmetry / hemiatrophy / hemihypertrophy Frequent - Varices / varicous veins / venous insufficiency Occasional - Facial pain / cephalalgia / migraine - Glaucoma - Heart / cardiac failure - Hemiplegia / diplegia / hemiparesia / limb palsy - Vascular anomalies of skin / mucosae