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Huntington disease

1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 1

Parkes Weber syndrome

1 OMIM reference -
1 associated gene
14 signs/symptoms

Huntington disease

Parkes Weber syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HTT	(0.88)	RASA1

Citations in the biomedical literature:

Huntington disease		Parkes Weber syndrome
	Synonym(s): - Huntington chorea		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): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: any age 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: D006816		External references: 1 OMIM reference - No MeSH references

Huntington disease		Parkes Weber syndrome
	Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Autosomal dominant inheritance - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - EEG anomalies - Hypertonia / spasticity / rigidity / stiffness - Movement disorder - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline		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