MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandcerebrovascular dementia (MONDO:0020144)
Parent Node:
expandcerebrovascular disorder (MONDO:0011057)
Parent Node:
expandgenetic cerebral small vessel disease (MONDO:0018787)
Parent Node:
expandhereditary amyloidosis (MONDO:0018634)
Parent Node:
expandmetabolic disease with dementia (MONDO:0020142)
..Starting node
..expandcerebral amyloid angiopathy ()

       Child Nodes:
........expandABri amyloidosis ()
........expandACys amyloidosis ()
........expandADan amyloidosis ()
........expandcerebral amyloid angiopathy, APP-related ()



 Sister Nodes: 
..expandabetalipoproteinemia ()
..expandadult Refsum disease ()
..expandautosomal recessive ataxia due to ubiquinone deficiency ()  LSDB  L: 00443;
..expandautosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome ()
..expandautosomal recessive cerebellar ataxia due to a DNA repair defect ()
..expandautosomal recessive cerebellar ataxia with late-onset spasticity ()
..expandcerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ()
..expandcerebral amyloid angiopathy ()
..expandcerebral lipidosis with dementia ()
..expandchorea-acanthocytosis ()
..expandfamilial isolated deficiency of vitamin E ()
..expandhereditary sensory neuropathy-deafness-dementia syndrome ()
..expandinfantile onset spinocerebellar ataxia ()  LSDB  L: 00036;
..expandinfantile Refsum disease ()
..expandITM2B amyloidosis ()
..expandMcLeod neuroacanthocytosis syndrome ()
..expandmetachromatic leukodystrophy ()
..expandneurodegeneration with brain iron accumulation ()
..expandrecessive mitochondrial ataxia syndrome ()
..expandspastic ataxia 3 ()
..expandspastic ataxia 4 ()  LSDB  L: 00083;
..expandspastic ataxia 5 ()
..expandspinocerebellar ataxia type 28 ()  LSDB  L: 00498;
..expandspinocerebellar ataxia type 38 ()
..expandX-linked adrenoleukodystrophy ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:5620
Name:cerebral amyloid angiopathy
Definition:Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:CAA, familial; cerebral amyloid angiopathy, familial; cerebral amyloid angiopathy, genetic; dutch hereditary cerebral amyloid angiopathy; HCHWA; hereditary cerebral haemorrhage with amyloidosis - Dutch type
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes: B2M;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal