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Huntington disease

1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Kleefstra syndrome due to 9q34 microdeletion

1 associated gene
35 signs/symptoms

Huntington disease

Kleefstra syndrome due to 9q34 microdeletion

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HTT	(0.63)	EHMT1

Citations in the biomedical literature:

Huntington disease		Kleefstra syndrome due to 9q34 microdeletion
	Synonym(s): - Huntington chorea		Synonym(s): - 9q subtelomeric deletion syndrome - 9qSTDS - Kleefstra syndrome due to 9q subtelomeric deletion - Kleefstra syndrome due to del(9)(q34) - Kleefstra syndrome due to monosomy 9q34

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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: (no data available)

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


COMMON SIGNS	- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy

Huntington disease		Kleefstra syndrome due to 9q34 microdeletion
	Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Autosomal dominant inheritance - EEG anomalies - Hypertonia / spasticity / rigidity / stiffness - Movement disorder - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline		Very frequent - Anteverted nares / nostrils - Brachycephaly / flat occiput - Everted lower lip - High arched eyebrows - Hypertelorism - Hypotonia - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Short / small nose - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Cardiac septal defect - Downturned mouth - Generalized obesity - Macroglossia / tongue protrusion / proeminent / hypertrophic - Microcephaly - Mid-facial hypoplasia / short / small midface - Seizures / epilepsy / absences / spasms / status epilepticus - Synophris / synophrys - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Autism / autistic disoders - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - Failure to thrive / difficulties for feeding in infancy / growth delay - Hearing loss / hypoacusia / deafness - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Inguinal / inguinoscrotal / crural hernia - Micropenis / small penis / agenesis - Renal failure - Sleep and vigilance disorders - Tetralogy of Fallot / trilogy of Fallot - Umbilical hernia - Vesicorenal / vesicoureteral reflux