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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Huntington disease
Mitochondrial trifunctional protein deficiency

HTT HADHA
HADHB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HTT
(0.63)
HADHA



Citations in the biomedical literature:


Huntington disease
HTT
Mitochondrial trifunctional protein deficiency
HADHA HADHB



Huntington disease
Mitochondrial trifunctional protein deficiency

Synonym(s):
- Huntington chorea

Synonym(s):
- TFP deficiency
- TFPD

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

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: before age 5
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: D006816
External references:
1 OMIM reference -
1 MeSH reference: D024741

Huntington disease

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



Mitochondrial trifunctional protein deficiency

(no data available)