Carasil

Description

CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.

Clinical Features

Top most frequent phenotypes and symptoms related to Carasil

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Cognitive impairment
  • Delayed speech and language development
  • Hypertension
  • Hyperreflexia
  • Dysarthria
  • Gait disturbance

And another 43 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

Carasil Is also known as cerebrovascular disease with thin skin, alopecia, and disc disease, subcortical vascular encephalopathy, progressive, maeda syndrome, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.

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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Carasil Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HTRA1 (CARASIL) Sequencing Test.

By Athena Diagnostics Inc (United States).

HTRA1
Specificity
100 %
Genes
100 %
Migraine and Strokes Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCN1A, SLC2A1, CACNA1A, COL4A1, NOTCH3, ATP1A2, POLG, HTRA1
Specificity
13 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
HTRA1. Complete sequencing.

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

HTRA1
Specificity
100 %
Genes
100 %
CARASIL syndrome (sequence analysis of HTRA1 gene).

By CGC Genetics (Portugal).

HTRA1
Specificity
100 %
Genes
100 %
CADASIL and CARASIL Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

NOTCH3, HTRA1
Specificity
50 %
Genes
100 %
CADASIL2 and CARASIL via HTRA1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

HTRA1
Specificity
100 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SCP2, AIMP1, SDHB, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SLC25A4, SOX10, SPG11, SPG7, SUCLA2, SURF1, TWNK, ACOX1, TREX1, TUFM, TYROBP, WARS2, MCOLN1 , (...)

View the complete list with 135 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; EIEE1 FRIEDREICH ATAXIA 2; FRDA2 MATURITY-ONSET DIABETES OF THE YOUNG; MODY

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