Abetal34v Amyloidosis

Description

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.

Clinical Features

Top most frequent phenotypes and symptoms related to Abetal34v Amyloidosis

  • Intellectual disability
  • Global developmental delay
  • Behavioral abnormality
  • Dementia
  • Stroke
  • Paresthesia
  • Coma
  • Sensory impairment
  • Migraine
  • Cerebral hemorrhage

And another 1 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available there are 1 families with ABETAL34V AMYLOIDOSIS in Europe.
No data available about the known clinical features onset.

Alternative names

Abetal34v Amyloidosis Is also known as abetal34v-related amyloidosis, abeta amyloidosis, piedmont type, hchwa, piedmont type, hereditary cerebral hemorrhage with amyloidosis, piedmont 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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Abetal34v Amyloidosis 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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