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1 OMIM reference -
5 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
13 signs/symptoms
Cystic fibrosis
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

CFTR APP
CLCA4
DCTN4
STX1A
TGFB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TGFB1
(0.85)
APP



Citations in the biomedical literature:


Cystic fibrosis
CFTR CLCA4 DCTN4 STX1A TGFB1
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
APP



Cystic fibrosis
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

Synonym(s):
- CF
- Mucoviscidosis

Synonym(s):
- HCHWA, Piedmont type

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)

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
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: D003550
External references:
1 OMIM reference -
No MeSH references

Cystic fibrosis
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

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)


Very frequent
- Autosomal dominant inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral / meningeal hemorrhage
- Motor deficit / trouble
- Obnubilation / coma / lethargia / desorientation
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Psychic / psychomotor regression / dementia / intellectual decline
- Sensitive trouble / deficit
- Transient cerebral ischemia / stroke

Frequent
- Cerebral vascular anomalies
- Facial pain / cephalalgia / migraine
- Psychic / behavioural troubles

Occasional
- Early death / lethality