Hereditary cerebral hemorrhage with amyloidosis, Dutch 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
HCHWA-D
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT
HCHWA, Dutch type
Number of Symptoms 23
OrphanetNr: 100006
OMIM Id: 605714
ICD-10: E85.4+
I68.0*
UMLs: C0268394
C2931672
MeSH: C537944
D028243
MedDRA:
Snomed: 56453003

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

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 Very frequent [Orphanet] 175 / 7739
2
(HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
3
(HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
4
(HPO:0000726) Dementia 131 / 7739
5
(HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
6
(HPO:0002514) Cerebral calcification Frequent [Orphanet] 89 / 7739
7
(HPO:0004938) Tortuous cerebral arteries 6 / 7739
8
(HPO:0002637) Cerebral ischemia 17 / 7739
9
(HPO:0002140) Ischemic stroke Frequent [Orphanet] 70 / 7739
10
(HPO:0004968) Recurrent cerebral hemorrhage 1 / 7739
11
(HPO:0001297) Stroke 44 / 7739
12
(HPO:0002170) Intracranial hemorrhage Very frequent [Orphanet] 40 / 7739
13
(HPO:0011695) Cerebellar hemorrhage 6 / 7739
14
(HPO:0011970) Cerebral amyloid angiopathy 9 / 7739
15
(OMIM) Recurrent strokes 6 / 7739
16
(HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
17
(OMIM) Cerebral artery amyloidosis (amyloid deposition in cerebral arteries) 6 / 7739
18
(OMIM) Dementia, progressive, with onset of disease 6 / 7739
19
(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
20
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
21
(MedDRA:10008118) Cerebral infarction 10 / 7739
22
(OMIM) Hyaline thickening of cerebral arteries 7 / 7739
23
(OMIM) Recurrent cerebral and cerebellar hemorrhage 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 ...