Hereditary cerebral hemorrhage with amyloidosis, Icelandic type

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBRAL HEMORRHAGE, HEREDITARY, WITH AMYLOIDOSIS
AMYLOIDOSIS, CEREBROARTERIAL, ICELANDIC TYPE
HEREDITARY CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS
AMYLOIDOSIS VI
HCHWA
Hereditary cystatin C amyloid angiopathy
HCHWA, Icelandic type
Number of Symptoms 11
OrphanetNr: 100008
OMIM Id: 105150
ICD-10: E85.4+
I68.0*
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adolescent
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:0000726) Dementia 131 / 7739
2
(HPO:0002170) Intracranial hemorrhage Very frequent [Orphanet] 40 / 7739
3
(HPO:0002140) Ischemic stroke Very frequent [Orphanet] 70 / 7739
4
(HPO:0001297) Stroke 44 / 7739
5
(HPO:0001342) Cerebral hemorrhage 24 / 7739
6
(HPO:0100659) Abnormality of the cerebral vasculature Very frequent [Orphanet] 25 / 7739
7
(HPO:0003216) Generalized amyloid deposition 4 / 7739
8
(HPO:0100613) Death in early adulthood Occasional [Orphanet] 10 / 7739
9
(OMIM) Premature stroke 1 / 7739
10
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
(OMIM) Abnormally low cerebrospinal fluid cystatin C 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cerebral amyloid angiopathy (CAA), defined by the deposition of congophilic material in the vessels of the cortex and leptomeninges, is a major cause of intracerebral hemorrhage in the elderly (Vinters, 1987, Greenberg, 1998). Palsdottir et al. (1988) referred ...
Diagnosis OMIM - Differential Diagnosis

The forms of HCHWA in Iceland and in the Netherlands (605714) represent fundamentally separate diseases (van Duinen et al., 1987). Differences that have been noted between the 2 forms include the following: Icelandic ...

Clinical Description OMIM Arnason (1935) described 10 Icelandic families with a high incidence of cerebral hemorrhage and concluded that a hereditary form of the disease was present in these families. Also in Iceland, Gudmundsson et al. (1972) studied a kindred in ...
Molecular genetics OMIM In Icelandic patients with hereditary cerebral hemorrhage with amyloidosis, Abrahamson et al. (1987) identified a heterozygous mutation in the CST3 gene (L68Q; 604312.0001). Palsdottir et al. (1988) identified this mutation in affected members of 8 families, establishing incontrovertibly ...
Population genetics OMIM Jensson et al. (1989) reviewed the history of the Icelandic variety in an article appropriately called 'The saga of the cystatin C mutation causing amyloid angiopathy and brain hemorrhage.' They pointed out that the patients show cystatin C ...