MCID: CRS003
MIFTS: 24

Carasil malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Carasil

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Sources:
48OMIM, 20GeneReviews, 34MalaCards
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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 cerebritis. An important gene associated with Carasil is HTRA1 (HtrA serine peptidase 1). Affiliated tissues include smooth muscle.

Description from OMIM:48 600142

GeneReviews summary for carasil

Aliases & Classifications for Carasil

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Sources:
20GeneReviews, 21GeneTests, 50Orphanet, 63UMLS, 48OMIM, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
carasil:
Inheritance: Autosomal recessive; Age of onset: Adolescence / Young adulthood; Age of death: Adult


Aliases & Descriptions:

carasil 20 21 50
cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy 50 63
maeda syndrome 20 50
cerebral autosomal recessive arteriopathy with subcortical infarctsleukoencephalopathy 20
carasil syndrome 48


External Ids:

OMIM48 600142
ICD10 via Orphanet27 F01.1, I67.8

Related Diseases for Carasil

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18GeneCards, 19GeneDecks
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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 leukoencephalopathy10.5
2cerebritis10.4
3cadasil10.0
4alopecia10.0
5dementia10.0

Graphical network of diseases related to Carasil:



Diseases related to carasil

Symptoms for Carasil

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48OMIM
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Symptoms by clinical synopsis from OMIM:

600142

Clinical features from OMIM:

600142

Drugs & Therapeutics for Carasil

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Sources:
21GeneTests
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Genetic tests related to Carasil:

id Genetic test Affiliating Genes
1 Carasil21 HTRA1

Anatomical Context for Carasil

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34MalaCards
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MalaCards organs/tissues related to Carasil:

34
Smooth muscle

Animal Models for Carasil or affiliated genes

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Publications for Carasil

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Sources:
53PubMed
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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

Variations for Carasil

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Carasil:

65
id Symbol AA change Variation ID SNP ID
1HTRA1p.Ala252ThrVAR_063148rs113993968
2HTRA1p.Val297MetVAR_063149rs113993969

Clinvar genetic disease variations for Carasil:

1
id Gene Name Type Significance SNP ID Assembly Location
1HTRA1NM_002775.4(HTRA1): c.883G> A (p.Gly295Arg)single nucleotide variantPathogenicGRCh37Chr 10, 124266312: 124266312
2HTRA1NM_002775.4(HTRA1): c.1108C> T (p.Arg370Ter)single nucleotide variantPathogenicrs113993971GRCh37Chr 10, 124268274: 124268274
3HTRA1NM_002775.4(HTRA1): c.904C> T (p.Arg302Ter)single nucleotide variantPathogenicrs113993970GRCh37Chr 10, 124266333: 124266333
4HTRA1NM_002775.4(HTRA1): c.889G> A (p.Val297Met)single nucleotide variantPathogenicrs113993969GRCh37Chr 10, 124266318: 124266318
5HTRA1NM_002775.4(HTRA1): c.754G> A (p.Ala252Thr)single nucleotide variantPathogenicrs113993968GRCh37Chr 10, 124249119: 124249119

Expression for genes affiliated with Carasil

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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Compounds for genes affiliated with Carasil

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GO Terms for genes affiliated with Carasil

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Products for genes affiliated with Carasil

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Carasil

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet