MCID: CRS003
MIFTS: 27

Carasil malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Carasil

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MalaCards based summary: 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, and has symptoms including autosomal recessive inheritance, urinary incontinence and dementia. An important gene associated with Carasil is HTRA1 (HtrA serine peptidase 1). Affiliated tissues include smooth muscle.

Description from OMIM:46 600142

GeneReviews summary for carasil

Aliases & Classifications for Carasil

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Sources:
20GeneReviews, 21GeneTests, 48Orphanet, 61UMLS, 46OMIM, 27ICD10 via Orphanet
See all sources

Carasil, Aliases & Descriptions:

Name: Carasil 20 21 48
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 48 61
Maeda Syndrome 20 48
 
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarctsleukoencephalopathy 20
Carasil Syndrome 46


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
carasil:
Inheritance: Autosomal recessive; Age of onset: Adolescence / Young adulthood; Age of death: Adult


External Ids:

OMIM46 600142
ICD10 via Orphanet27 F01.1

Related Diseases for Carasil

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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
3cadasil10.2
4alopecia10.0
5dementia10.0

Graphical network of diseases related to Carasil:



Diseases related to carasil

Symptoms for Carasil

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Symptoms by clinical synopsis from OMIM:

600142

Clinical features from OMIM:

600142

HPO human phenotypes related to Carasil:

(show all 18)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 urinary incontinence HP:0000020
3 dementia HP:0000726
4 ataxia HP:0001251
5 spasticity HP:0001257
6 dysarthria HP:0001260
7 gait disturbance HP:0001288
8 hyperreflexia HP:0001347
9 alopecia HP:0001596
10 rigidity HP:0002063
11 abnormality of extrapyramidal motor function HP:0002071
12 pseudobulbar signs HP:0002200
13 progressive encephalopathy HP:0002448
14 low back pain HP:0003419
15 babinski sign HP:0003487
16 arteriosclerosis of small cerebral arteries HP:0004931
17 diffuse demyelination of the cerebral white matter HP:0007162
18 diffuse white matter abnormalities HP:0007204

Drugs & Therapeutics for Carasil

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Drug clinical trials:

Search ClinicalTrials for Carasil

Search NIH Clinical Center for Carasil

Genetic Tests for Carasil

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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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MalaCards organs/tissues related to Carasil:

32
Smooth muscle

Animal Models for Carasil or affiliated genes

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Publications for Carasil

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Articles related to Carasil:

(show all 15)
idTitleAuthorsYear
1
CADASIL and CARASIL. (25323668)
2014
2
Two novel HTRA1 mutations in a European CARASIL patient. (24500651)
2014
3
Mutation in the HTRA1 gene in a patient with degenerated spine as a component of CARASIL syndrome. (24535794)
2014
4
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
5
CARASIL. (23029730)
2012
6
A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree. (22900900)
2012
7
Neurological picture. Neuroaxonal integrity evaluated by MR spectroscopy in a case of CARASIL. (21444319)
2011
8
A novel mutation in the HTRA1 gene causes CARASIL without alopecia. (21482952)
2011
9
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
10
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification. (21215656)
2011
11
A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population. (21115960)
2010
12
A Chinese pedigree of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): clinical and radiological features. (19299137)
2009
13
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
14
Cerebral arterial pathology of CADASIL and CARASIL (Maeda syndrome). (14719550)
2003
15
CARASIL (20437615)
1993

Variations for Carasil

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UniProtKB/Swiss-Prot genetic disease variations for Carasil:

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

Clinvar genetic disease variations for Carasil:

7
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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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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Sources for Carasil

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet