ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
14 signs/symptoms

Pelizaeus-Merzbacher-like due to HSPD1 mutation

Parkes Weber syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HSPD1	(0.52)	RASA1

Citations in the biomedical literature:

Pelizaeus-Merzbacher-like due to HSPD1 mutation		Parkes Weber syndrome
	Synonym(s): - Mitochondrial HSP60 chaperonopathy		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare neurologic 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: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: - 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

Parkes Weber syndrome
	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
Pelizaeus-Merzbacher-like due to HSPD1 mutation
(no data available)