Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT
AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT
HCHWAD
AMYLOIDOSIS, HEREDITARY, WITH CEREBRAL HEMORRHAGE, DUTCH VARIANT
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT
HCHWA, Piedmont type
Number of Symptoms 22
OrphanetNr: 324703
OMIM Id: 605714
ICD-10: E85.4+
I68.0*
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Hereditary cerebral hemorrhage with amyloidosis
 -Rare genetic disease
 -Rare neurologic disease
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
(HPO:0002315) Headache Frequent [Orphanet] 175 / 7739
2
(HPO:0003474) Sensory impairment Very frequent [Orphanet] 54 / 7739
3
(HPO:0011442) Abnormality of central motor function Very frequent [Orphanet] 76 / 7739
4
(HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
5
(HPO:0004372) Reduced consciousness/confusion Very frequent [Orphanet] 73 / 7739
6
(HPO:0000763) Sensory neuropathy Very frequent [Orphanet] 78 / 7739
7
(HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
8
(HPO:0002140) Ischemic stroke Very frequent [Orphanet] 70 / 7739
9
(HPO:0002637) Cerebral ischemia 17 / 7739
10
(HPO:0004938) Tortuous cerebral arteries 6 / 7739
11
(HPO:0100659) Abnormality of the cerebral vasculature Frequent [Orphanet] 25 / 7739
12
(HPO:0002170) Intracranial hemorrhage Very frequent [Orphanet] 40 / 7739
13
(HPO:0011970) Cerebral amyloid angiopathy 9 / 7739
14
(HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
15
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
16
(OMIM) Recurrent cerebral and cerebellar hemorrhage 6 / 7739
17
(OMIM) Hyaline thickening of cerebral arteries 7 / 7739
18
(OMIM) Microbleeds (less than 5 mm in diameter) occur at the gray-white matter junction in the cerebral hemispheres and cerebellum and do not occur in the thalamus, basal ganglia, or brainstem 6 / 7739
19
(OMIM) Dementia, progressive, with onset of disease 6 / 7739
20
(OMIM) Recurrent strokes 6 / 7739
21
(MedDRA:10008118) Cerebral infarction 10 / 7739
22
(OMIM) Cerebral artery amyloidosis (amyloid deposition in cerebral arteries) 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cerebral amyloid angiopathy, or cerebroarterial amyloidosis, refers to a pathologic process in which amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions, and progressive ...
Clinical Description OMIM Wattendorff et al. (1982) reported a Dutch family in which 11 members had cerebral and cerebellar hemorrhage and infarction at ages ranging from 44 to 58 years. Affected family members comprised 5 sibships spanning 2 generations. The principal ...
Molecular genetics OMIM In 2 patients from presumably unrelated Dutch families with hereditary cerebral hemorrhage with amyloidosis, Levy et al. (1990) identified a glu693-to-gln mutation in the APP gene (E693Q; 104760.0001). The authors noted that amyloid precursor proteins in the Dutch ...