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Infantile Bartter syndrome with deafness
2 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hereditary cerebral hemorrhage with amyloidosis, Italian type
1 OMIM reference -
1 associated gene
7 signs/symptoms
Infantile Bartter syndrome with deafness
Hereditary cerebral hemorrhage with amyloidosis, Italian type

BSND
(UniProt - OMIM)
 APP
(UniProt - OMIM)
CLCNKA
(UniProt - OMIM)
CLCNKB
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
BSND
(0.56)
APP


Citations in the biomedical literature:


Infantile Bartter syndrome with deafness
BSND CLCNKA CLCNKB
Hereditary cerebral hemorrhage with amyloidosis, Italian type
APP



Infantile Bartter syndrome with deafness
Hereditary cerebral hemorrhage with amyloidosis, Italian type

Synonym(s):
- Bartter syndrome type 4
Synonym(s):
- HCHWA, Italian type
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare renal 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:
(no data available)
Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Hereditary cerebral hemorrhage with amyloidosis, Italian type

Very frequent
- Autosomal dominant inheritance
- Facial pain / cephalalgia / migraine
- Intracranial / cerebral / meningeal hemorrhage
- Transient cerebral ischemia / stroke

Frequent
- Obnubilation / coma / lethargia / desorientation
- Psychic / psychomotor regression / dementia / intellectual decline
- Seizures / epilepsy / absences / spasms / status epilepticus



Infantile Bartter syndrome with deafness

(no data available)