Cytoscape Web
Click node...

Infantile autosomal recessive medullary cystic kidney disease
4 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 autosomal recessive medullary cystic kidney disease
Hereditary cerebral hemorrhage with amyloidosis, Italian type

ANKS6
(UniProt - OMIM)
 APP
(UniProt - OMIM)
INVS
(UniProt - OMIM)
NEK8
(UniProt - OMIM)
TTC21B
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ANKS6
(0.56)
APP


Citations in the biomedical literature:


Infantile autosomal recessive medullary cystic kidney disease
ANKS6 INVS NEK8 TTC21B
Hereditary cerebral hemorrhage with amyloidosis, Italian type
APP



Infantile autosomal recessive medullary cystic kidney disease
Hereditary cerebral hemorrhage with amyloidosis, Italian type

Synonym(s):
(no synonyms)

Synonym(s):
- HCHWA, Italian type
Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
No 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 autosomal recessive medullary cystic kidney disease

(no data available)