Abeta Amyloidosis, Italian Type

Description

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.

Clinical Features

Phenotypes and symptoms related to Abeta Amyloidosis, Italian Type

  • Seizures
  • Dementia
  • Mental deterioration
  • Stroke
  • Coma
  • Migraine
  • Cerebral hemorrhage

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

Abeta Amyloidosis, Italian Type Is also known as hchwa, italian type, abetae22k amyloidosis, hereditary cerebral hemorrhage with amyloidosis, italian 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.


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Abeta Amyloidosis, Italian Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

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 %
ADmark® APP DNA Sequencing/Duplication Test.

By Athena Diagnostics Inc (United States).

APP
Specificity
100 %
Genes
100 %
ADmark® Early Onset Alzheimer's Evaluation.

By Athena Diagnostics Inc (United States).

APP, PSEN1, PSEN2
Specificity
34 %
Genes
100 %
Dementia.

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 %
APOE, APP, PSEN1, PSEN2. NextGeneDx.Complete sequencing by NGS.

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

APOE, APP, PSEN1, PSEN2
Specificity
25 %
Genes
100 %
APP. Complete sequencing.

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

APP
Specificity
100 %
Genes
100 %
, APP. Complete sequencing.

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

APP
Specificity
100 %
Genes
100 %
APP. MLPA testing.

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

APP
Specificity
100 %
Genes
100 %

We have 55 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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