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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
12 signs/symptoms
Huntington disease
Beta-thalassemia intermedia

HTT HBB


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Huntington disease
HTT
Beta-thalassemia intermedia
HBB



Huntington disease
Beta-thalassemia intermedia

Synonym(s):
- Huntington chorea

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
- Rare renal disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

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

Huntington disease
Beta-thalassemia intermedia

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
- Anaemia
- Anomalies of bones / skeletal anomalies
- Hemoglobinosis / hemoglobinopathy
- Microcytic anemia
- Splenomegaly

Frequent
- Biliary / gallbladder stones / lithiasis / cholecystitis
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hyperferritinemia / iron overload

Occasional
- Chronic skin infection / ulcerations / ulcers / cancrum
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- Pulmonary hypertension
- Venous thrombosis / phlebitis / thrombophlebitis