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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
14 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Pendred syndrome

APP FOXI1
KCNJ10
SLC26A4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
FOXI1



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Pendred syndrome
FOXI1 KCNJ10 SLC26A4



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Pendred syndrome

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- Goiter - deafness

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare otorhinolaryngologic disease

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536648

Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Pendred syndrome

Very frequent
- Autosomal dominant inheritance
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



Very frequent
- Autosomal recessive inheritance
- Sensorineural deafness / hearing loss
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals

Frequent
- Goiter
- Hypothyroidy

Occasional
- Ataxia / incoordination / trouble of the equilibrium
- Dizziness
- Hyperparathyroidy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Renal disease / nephropathy
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thyroid neoplasm / tumor / carcinoma / cancer
- Tracheal atresia / stenosis