Abeta Amyloidosis, Dutch Type

Description

Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.

Clinical Features

Top most frequent phenotypes and symptoms related to Abeta Amyloidosis, Dutch Type

  • Seizures
  • Cognitive impairment
  • Hypertension
  • Behavioral abnormality
  • Headache
  • Encephalopathy
  • Dementia
  • Mental deterioration
  • Stroke
  • Abnormality of the cerebral white matter

And another 15 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Abeta Amyloidosis, Dutch Type Is also known as hchwad, amyloidosis, hereditary, with cerebral hemorrhage, dutch variant, hereditary cerebral hemorrhage with amyloidosis, dutch type, cerebral amyloid angiopathy, app-related, iowa variant, cerebral amyloid angiopathy, app-related, italian variant, hchwa, dut.

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, Dutch 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 OMIM Genetic Syndrome Finder

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