Cytoscape Web
Click node...


4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
13 signs/symptoms
Infantile autosomal recessive medullary cystic kidney disease
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

ANKS6 APP
INVS
NEK8
TTC21B


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, Piedmont type
APP



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

Synonym(s):
(no synonyms)

Synonym(s):
- HCHWA, Piedmont 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, Piedmont type

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


Infantile autosomal recessive medullary cystic kidney disease

(no data available)