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Huntington disease

1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

X-linked intellectual deficit, Golabi-Ito-Hall type

1 associated gene
16 signs/symptoms

Huntington disease

X-linked intellectual deficit, Golabi-Ito-Hall type

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HTT	(0.49)	PQBP1

Citations in the biomedical literature:

Huntington disease		X-linked intellectual deficit, Golabi-Ito-Hall type
	Synonym(s): - Huntington chorea		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): (no data available)

	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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - 1 MeSH reference: D006816		External references: No OMIM references No MeSH references


COMMON SIGNS	- Hypertonia / spasticity / rigidity / stiffness

Huntington disease		X-linked intellectual deficit, Golabi-Ito-Hall type
	Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Autosomal dominant inheritance - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - EEG anomalies - Movement disorder - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline		Very frequent - External ear anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Long face - Microcephaly - Narrow face - Short stature / dwarfism / nanism - Triangular face - Upslanted palpebral fissures / mongoloid slanting palpebral fissures - X-linked recessive inheritance Frequent - Atrial septal defect / interauricular communication - Brittle hair / distrix / trichorrhexis - Epicanthic folds - Hemiplegia / diplegia / hemiparesia / limb palsy Occasional - Seizures / epilepsy / absences / spasms / status epilepticus