ODCs

Cytoscape Web

Click node...

Huntington disease

1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 1

Hamel cerebro-palato-cardiac syndrome

1 associated gene
11 signs/symptoms

Huntington disease

Hamel cerebro-palato-cardiac syndrome

(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		Hamel cerebro-palato-cardiac syndrome
	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

Huntington disease		Hamel cerebro-palato-cardiac 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 - Atrial septal defect / interauricular communication - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Death in infancy - External ear anomalies - Intellectual deficit / mental / psychomotor retardation / learning disability - Long / large / bulbous nose - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Microstomia / little mouth - Short stature / dwarfism / nanism - X-linked recessive inheritance