MCID: CRS012
MIFTS: 28

Carasil Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Cardiovascular diseases categories

Summaries for Carasil Syndrome

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NIH Rare Diseases:41 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as carasil, is an inherited condition that causes stroke and other impairments. this progressive condition is characterized by muscle stiffness, mood and personality changes, dementia, memory loss, alopecia of the scalp, and attacks of low back pain. carasil is caused by mutations in the htra1 gene. it is inherited in an autosomal recessive pattern. last updated: 12/21/2011

MalaCards based summary: Carasil Syndrome, also known as cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, is related to cerebritis and cadasil, and has symptoms including autosomal recessive inheritance, urinary incontinence and dementia. An important gene associated with Carasil Syndrome is HTRA1 (HtrA serine peptidase 1). Affiliated tissues include skin.

Genetics Home Reference:21 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments.

OMIM:45 Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy is a nonhypertensive... (600142) more...

GeneReviews summary for carasil

Aliases & Classifications for Carasil Syndrome

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Carasil Syndrome, Aliases & Descriptions:

Name: Carasil Syndrome 45 10
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 41 21 47 22 60
Carasil 19 41 20 21 47
Maeda Syndrome 19 41 21 47
Familial Young-Adult-Onset Arteriosclerotic Leukoencephalopathy with Alopecia and Lumbago Without Arterial Hypertension 21
 
Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 45
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarctsleukoencephalopathy 19
Cerebrovascular Disease with Thin Skin, Alopecia, and Disc Disease 41
Subcortical Vascular Encephalopathy, Progressive 41
Nemoto Disease 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: adult


External Ids:

OMIM45 600142
Orphanet47 199354
ICD10 via Orphanet26 F01.1

Related Diseases for Carasil Syndrome

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Diseases related to Carasil Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cerebritis10.4
2cadasil10.2
3artery disease10.1
4alopecia10.0
5dementia10.0

Graphical network of diseases related to Carasil Syndrome:



Diseases related to carasil syndrome

Symptoms for Carasil Syndrome

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Symptoms by clinical synopsis from OMIM:

600142

Clinical features from OMIM:

600142

HPO human phenotypes related to Carasil Syndrome:

(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 Syndrome

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Drug clinical trials:

Search ClinicalTrials for Carasil Syndrome

Search NIH Clinical Center for Carasil Syndrome

Genetic Tests for Carasil Syndrome

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Genetic tests related to Carasil Syndrome:

id Genetic test Affiliating Genes
1 Carasil20 HTRA1
2 Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy22

Anatomical Context for Carasil Syndrome

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MalaCards organs/tissues related to Carasil Syndrome:

31
Skin

Animal Models for Carasil Syndrome or affiliated genes

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Publications for Carasil Syndrome

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Articles related to Carasil Syndrome:

idTitleAuthorsYear
1
A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population. (25772074)
2015
2
Mutation in the HTRA1 gene in a patient with degenerated spine as a component of CARASIL syndrome. (24535794)
2014
3
A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population. (21115960)
2010

Variations for Carasil Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Carasil Syndrome:

62
id Symbol AA change Variation ID SNP ID
1HTRA1p.Ala252ThrVAR_063148rs113993968
2HTRA1p.Val297MetVAR_063149rs113993969

Clinvar genetic disease variations for Carasil Syndrome:

6
id Gene Variation 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 Syndrome

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Search GEO for disease gene expression data for Carasil Syndrome.

Pathways for genes affiliated with Carasil Syndrome

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Compounds for genes affiliated with Carasil Syndrome

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GO Terms for genes affiliated with Carasil Syndrome

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Products for genes affiliated with Carasil Syndrome

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  • Lysates
  • Antibodies
  • Proteins
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Sources for Carasil Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet