MCID: CRS012
MIFTS: 31

Carasil Syndrome malady

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

Aliases & Classifications for Carasil Syndrome

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Aliases & Descriptions for Carasil Syndrome:

Name: Carasil Syndrome 49 11 67
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 45 22 23 51 24 65
Maeda Syndrome 21 45 22 23 51 67
Carasil 21 45 22 23 51 67
Subcortical Vascular Encephalopathy, Progressive 45 67
Familial Young-Adult-Onset Arteriosclerotic Leukoencephalopathy with Alopecia and Lumbago Without Arterial Hypertension 23
 
Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 67
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarctsleukoencephalopathy 21
Cerebrovascular Disease with Thin Skin, Alopecia, and Disc Disease 45
Cerebrovascular Disease with Thin Skin, Alopecia, and Disk Disease 67
Progressive Subcortical Vascular Encephalopathy 67
Nemoto Disease 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: adult


External Ids:

OMIM49 600142
Orphanet51 199354
ICD10 via Orphanet28 F01.1
MedGen34 C1838577
MeSH36 D015140

Summaries for Carasil Syndrome

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UniProtKB/Swiss-Prot:67 Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy: A cerebrovascular disease characterized by non-hypertensive arteriopathy of cerebral small vessels with subcortical infarcts, alopecia, and spondylosis. Small cerebral arteries show arteriosclerotic changes, fibrous intimal proliferation, and hyaline degeneration with splitting of the intima and/or the internal elastic membrane. Neurologic features include progressive dementia, gait disturbances, extrapyramidal and pyramidal signs, and demyelination of the cerebral white matter with sparing of U fibers.

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 nystagmus, autosomal recessive inheritance and urinary incontinence. An important gene associated with Carasil Syndrome is HTRA1 (HtrA Serine Peptidase 1). Affiliated tissues include skin.

Genetics Home Reference:23 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments.

NIH Rare Diseases:45 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

OMIM:49 Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy is a nonhypertensive... (600142) more...

GeneReviews summary for carasil

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
1cerebritis10.5
2cadasil10.2
3artery disease10.2
4alopecia10.1
5dementia10.1

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 19)
id Description Frequency HPO Source Accession
1 nystagmus rare (5%) HP:0000639
2 autosomal recessive inheritance HP:0000007
3 urinary incontinence HP:0000020
4 dementia HP:0000726
5 ataxia HP:0001251
6 spasticity HP:0001257
7 dysarthria HP:0001260
8 gait disturbance HP:0001288
9 hyperreflexia HP:0001347
10 alopecia HP:0001596
11 rigidity HP:0002063
12 abnormality of extrapyramidal motor function HP:0002071
13 pseudobulbar signs HP:0002200
14 progressive encephalopathy HP:0002448
15 low back pain HP:0003419
16 babinski sign HP:0003487
17 arteriosclerosis of small cerebral arteries HP:0004931
18 diffuse demyelination of the cerebral white matter HP:0007162
19 diffuse white matter abnormalities HP:0007204

Drugs & Therapeutics for Carasil Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Carasil22 HTRA1
2 Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy24

Anatomical Context for Carasil Syndrome

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MalaCards organs/tissues related to Carasil Syndrome:

33
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:

67
id Symbol AA change Variation ID SNP ID
1HTRA1p.Ala252ThrVAR_063148rs113993968
2HTRA1p.Val297MetVAR_063149rs113993969

Clinvar genetic disease variations for Carasil Syndrome:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1HTRA1NM_002775.4(HTRA1): c.821G> A (p.Arg274Gln)single nucleotide variantPathogenicrs587776445GRCh38Chr 10, 122506734: 122506734
2HTRA1NM_002775.4(HTRA1): c.854C> T (p.Pro285Leu)single nucleotide variantPathogenicrs587776446GRCh37Chr 10, 124266283: 124266283
3HTRA1NM_002775.4(HTRA1): c.1091T> C (p.Leu364Pro)single nucleotide variantPathogenicrs587776447GRCh37Chr 10, 124268257: 124268257
4HTRA1NM_002775.4(HTRA1): c.126delG (p.Glu42Aspfs)deletionPathogenicrs587776448GRCh38Chr 10, 122461778: 122461778
5HTRA1NM_002775.4(HTRA1): c.961G> A (p.Ala321Thr)single nucleotide variantPathogenicrs587776449GRCh38Chr 10, 122506874: 122506874
6HTRA1NM_002775.4(HTRA1): c.126delG (p.Glu42Aspfs)deletionPathogenicrs587776448GRCh38Chr 10, 122461778: 122461778
7HTRA1NM_002775.4(HTRA1): c.883G> A (p.Gly295Arg)single nucleotide variantPathogenicrs587776873GRCh37Chr 10, 124266312: 124266312
8HTRA1NM_002775.4(HTRA1): c.1108C> T (p.Arg370Ter)single nucleotide variantPathogenicrs113993971GRCh37Chr 10, 124268274: 124268274
9HTRA1NM_002775.4(HTRA1): c.904C> T (p.Arg302Ter)single nucleotide variantPathogenicrs113993970GRCh37Chr 10, 124266333: 124266333
10HTRA1NM_002775.4(HTRA1): c.889G> A (p.Val297Met)single nucleotide variantPathogenicrs113993969GRCh37Chr 10, 124266318: 124266318
11HTRA1NM_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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GO Terms for genes affiliated with Carasil Syndrome

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Sources for Carasil Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet