Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
5 associated genes
9 signs/symptoms
Huntington disease
Cystic fibrosis

HTT CFTR
CLCA4
DCTN4
STX1A
TGFB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HTT
(0.68)
STX1A



Citations in the biomedical literature:


Huntington disease
HTT
Cystic fibrosis
CFTR CLCA4 DCTN4 STX1A TGFB1



Huntington disease
Cystic fibrosis

Synonym(s):
- Huntington chorea

Synonym(s):
- CF
- Mucoviscidosis

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare infertility
- Rare respiratory disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: young adult
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: D006816
External references:
1 OMIM reference -
1 MeSH reference: D003550

Huntington disease
Cystic fibrosis

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
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Autosomal recessive inheritance
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Lung fibrosis
- Malabsorption / chronic diarrhea / steatorrhea
- Repeat respiratory infections
- Structural anomalies of the liver and the biliary tract
- Structural anomalies of the pancreas

Occasional
- Hepatomegaly / liver enlargement (excluding storage disease)