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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, Iowa type
1 OMIM reference -
1 associated gene
10 signs/symptoms
Infantile autosomal recessive medullary cystic kidney disease
Hereditary cerebral hemorrhage with amyloidosis, Iowa 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, Iowa type
APP



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

Synonym(s):
(no synonyms)

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

Very frequent
- Abnormal gait
- Autosomal dominant inheritance
- Cerebral vascular anomalies
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Intracranial / cerebral / meningeal hemorrhage
- Myoclonus / fasciculations
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline
- Transient cerebral ischemia / stroke
- Troubles of memory / amnesia / hypermnesia



Infantile autosomal recessive medullary cystic kidney disease

(no data available)