Abeta Amyloidosis, Arctic Type
Description
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages.
Clinical Features
Phenotypes and symptoms related to Abeta Amyloidosis, Arctic Type
- Behavioral abnormality
- Febrile seizures
Incidence and onset information
— Based on the latest data available there are 1 families with ABETA AMYLOIDOSIS, ARCTIC TYPE in Europe.— No data available about the known clinical features onset.
Alternative names
Abeta Amyloidosis, Arctic Type Is also known as hereditary cerebral hemorrhage with amyloidosis, arctic type, abetae22g amyloidosis, hchwa, arctic 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.Abeta Amyloidosis, Arctic Type Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
APP
Specificity
100 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
APP, PSEN1, PSEN2
Specificity
34 %
Genes
100 % |
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SORL1, TARDBP, VCP, FIG4, OPTN, TREM2, CSF1R, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, GRN, ANG, APOE, APP, MAPT, PRNP, PSEN1 , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
APOE, APP, PSEN1, PSEN2
Specificity
25 %
Genes
100 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
APP
Specificity
100 %
Genes
100 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
APP
Specificity
100 %
Genes
100 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
APP
Specificity
100 %
Genes
100 % |
You can get up to 55 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like XIA-GIBBS SYNDROME KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 HEREDITARY COPROPORPHYRIA ACROCALLOSAL SYNDROME; ACLS MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME; MEDS