MCID: CRS003
MIFTS: 18

Carasil malady

Neuronal category

Summaries for Carasil

Sources:
47OMIM, 19GeneReviews, 33MalaCards
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MalaCards: Carasil, also known as cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, is related to cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy and cadasil. An important gene associated with Carasil is HTRA1 (HtrA serine peptidase 1). Affiliated tissues include smooth muscle.

Description from OMIM:47 600142

GeneReviews summary for carasil

Aliases & Classifications for Carasil

Sources:
19GeneReviews, 20GeneTests, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
carasil:
Inheritance: Autosomal recessive; Age of onset: Adolescence / Young adulthood; Age of death: Adult


Aliases & Descriptions:

carasil 19 20 49
cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy 49 61
maeda syndrome 19 49
cerebral autosomal recessive arteriopathy with subcortical infarctsleukoencephalopathy 19
carasil syndrome 47


External Ids:

OMIM47 600142
ICD10 via Orphanet26 F01.1, I67.8

Related Diseases for Carasil

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Carasil via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy10.4
2cadasil10.0
3alopecia10.0

Clinical Features for Carasil

Sources:
47OMIM
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Clinical features from OMIM:

600142

Clinical synopsis from OMIM:

600142

Drugs & Therapeutics for Carasil

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Carasil

Drug clinical trials:

Search ClinicalTrials for Carasil

Search NIH Clinical Center for Carasil

Search CenterWatch for Carasil

Genetic Tests for Carasil

Sources:
20GeneTests
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Genetic tests related to Carasil:

id Genetic test Affiliating Genes
1 Carasil20 HTRA1

Anatomical Context for Carasil

Sources:
33MalaCards
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MalaCards organs/tissues related to Carasil:

33
Smooth muscle

Animal Models for Carasil or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Carasil

Sources:
51PubMed
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Articles related to Carasil:

(show all 12)
idTitleAuthorsYear
1
A novel mutation of the high-temperature requirement A serine peptidase 1 (HTRA1) gene in a Chinese family with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). (23963851)
2013
2
CARASIL. (23029730)
2012
3
A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree. (22900900)
2012
4
Neurological picture. Neuroaxonal integrity evaluated by MR spectroscopy in a case of CARASIL. (21444319)
2011
5
A novel mutation in the HTRA1 gene causes CARASIL without alopecia. (21482952)
2011
6
Dementia: progress in diagnosis and treatment; Topics, V. Recent topics; 4. Detection of novel dementia-related genes; 2) Dysregulation of TGF-beta family signaling and hereditary cerebral small vessel disease: insight into molecular pathogenesis of CARASIL]. (21899153)
2011
7
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification. (21215656)
2011
8
A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population. (21115960)
2010
9
A Chinese pedigree of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): clinical and radiological features. (19299137)
2009
10
Extensive loss of arterial medial smooth muscle cells and mural extracellular matrix in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). (18021191)
2008
11
Cerebral arterial pathology of CADASIL and CARASIL (Maeda syndrome). (14719550)
2003
12
CARASIL (20437615)
1993

Genetic Variations for Carasil

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Carasil:

63
id Symbol AA change Variation SNP ID
1HTRA1p.Ala252ThrVAR_063148rs113993968
2HTRA1p.Val297MetVAR_063149rs113993969

Expression for genes affiliated with Carasil

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Carasil

Search GEO for disease gene expression data for Carasil.

Pathways for genes affiliated with Carasil

Compounds for genes affiliated with Carasil

GO Terms for genes affiliated with Carasil

Products for genes affiliated with Carasil

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Carasil

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet