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5 OMIM references -
5 associated genes
6 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Huntington disease

BCL11A HTT
HBB
HBG1
HBG2
KLF1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hereditary persistence of fetal hemoglobin - beta-thalassemia
BCL11A HBB HBG1 HBG2 KLF1
Huntington disease
HTT



Hereditary persistence of fetal hemoglobin - beta-thalassemia
Huntington disease

Synonym(s):
- HPFH - beta-thalassemia

Synonym(s):
- Huntington chorea

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant

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

Hereditary persistence of fetal hemoglobin - beta-thalassemia
Huntington disease

Very frequent
- Anaemia
- Hemoglobinosis / hemoglobinopathy
- Pallor
- Splenomegaly

Frequent
- Anomalies of bones / skeletal anomalies
- Hepatomegaly / liver enlargement (excluding storage 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