Cerebral Amyloid Angiopathy, Cst3-related

Description

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 to the disorder in Icelandic patients as hereditary cystatin C amyloid angiopathy (HCCAA).

Clinical Features

Phenotypes and symptoms related to Cerebral Amyloid Angiopathy, Cst3-related

  • Seizures
  • Dementia
  • Mental deterioration
  • Stroke
  • Intracranial hemorrhage
  • Cerebral hemorrhage
  • Amyloidosis
  • Senile plaques
  • Cerebral amyloid angiopathy
  • Generalized amyloid deposition

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Cerebral Amyloid Angiopathy, Cst3-related Is also known as amyloidosis vi, hereditary cerebral hemorrhage with amyloidosis, hchwa, cerebral hemorrhage, hereditary, with amyloidosis, amyloidosis, cerebroarterial, icelandic type.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Cerebral Amyloid Angiopathy, Cst3-related Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CST3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

CST3
Specificity
100 %
Genes
100 %
Cerebral amyloid angiopathy (sequence analysis of CST3 gene).

By CGC Genetics (Portugal).

CST3
Specificity
100 %
Genes
100 %
Hereditary amyloidosis (NGS panel of 19 genes).

By CGC Genetics (Portugal).

TACSTD2, TGFBI, TNFRSF1A, TTR, NLRP3, IL31RA, CST3, F10, FGA, GSN, APP, LYZ, MEFV, OSMR, B2M, PRNP, RET
Specificity
6 %
Genes
100 %
Hereditary amyloidosis (NGS panel of 19 genes).

By CGC Genetics (Portugal).

TACSTD2, TGFBI, TNFRSF1A, TTR, NLRP3, IL31RA, CST3, F10, FGA, GSN, APP, LYZ, MEFV, OSMR, B2M, PRNP, RET
Specificity
6 %
Genes
100 %
Vascular and connective tissue diseases - panels.

By MGZ Medical Genetics Center (Germany).

AIMP1, BMPR1B, BMPR2, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, TREX1, TTR, ACTA2, SLC2A10, CACNA1C, CAV1, CBS, JAM3, COQ8A, ACVRL1, ADA2 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
100 %
Macular degeneration, age-related type 11.

By Centogene AG - the Rare Disease Company (Germany).

CST3
Specificity
100 %
Genes
100 %
Cerebral amyloid angiopathy.

By Centogene AG - the Rare Disease Company (Germany).

CST3
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %

You can get up to 6 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5 SPINOCEREBELLAR ATAXIA 42; SCA42 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E POLYCYTHEMIA VERA; PV HAMEL CEREBRO-PALATO-CARDIAC SYNDROME CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2