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



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

Synonym(s):
(no synonyms)

Synonym(s):
- HCHWA, Dutch type
- HCHWA-D
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:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: C537944 / D028243
Hereditary cerebral hemorrhage with amyloidosis, Dutch type

Very frequent
- Facial pain / cephalalgia / migraine
- Intracranial / cerebral / meningeal hemorrhage
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline

Frequent
- Intracranial / cerebral calcifications
- Seizures / epilepsy / absences / spasms / status epilepticus
- Transient cerebral ischemia / stroke

Occasional
- Early death / lethality


Infantile autosomal recessive medullary cystic kidney disease

(no data available)