Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Hereditary cerebral hemorrhage with amyloidosis, Icelandic type

Orpha number ORPHA100008
Synonym(s) HCHWA, Icelandic type
Hereditary cystatin C amyloid angiopathy
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Adult
Adolescent
ICD-10
  • E85.4+
  • I68.0*
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 45639009

Summary

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.

It has been described in 9 sub-families in Icelandic families to date.

Disease onset occurs between the ages of 20-30. Unlike other forms of HCHWA, major systemic amyliodosis and recurrent lobar hemorrhages do occur.

Unlike other forms of HCHWA, it is due to a mutation in the CST3 gene on chromosome 20p11.2, encoding the precursor protein cystatin C.

Transmission is autosomal dominant.

Expert reviewer(s)

  • Dr Joost HAAN
  • Dr G.M. [Gisela] TERWINDT

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Summary information
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.