MCID: CRS012
MIFTS: 30

Carasil Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Cardiovascular diseases

Aliases & Classifications for Carasil Syndrome

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Aliases & Descriptions for Carasil Syndrome:

Name: Carasil Syndrome 50 68 12
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 46 23 24 52 25 66
Maeda Syndrome 22 46 23 24 52 68
Carasil 22 46 23 24 52 68
Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 50 68
Subcortical Vascular Encephalopathy, Progressive 46 68
 
Familial Young-Adult-Onset Arteriosclerotic Leukoencephalopathy with Alopecia and Lumbago Without Arterial Hypertension 24
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarctsleukoencephalopathy 22
Cerebrovascular Disease with Thin Skin, Alopecia, and Disc Disease 46
Cerebrovascular Disease with Thin Skin, Alopecia, and Disk Disease 68
Progressive Subcortical Vascular Encephalopathy 68
Nemoto Disease 24

Characteristics:

Orphanet epidemiological data:

52
cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: adult

HPO:

62
carasil syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 600142
Orphanet52 ORPHA199354
ICD10 via Orphanet29 F01.1
MedGen35 C1838577
MeSH37 D015140

Summaries for Carasil Syndrome

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UniProtKB/Swiss-Prot:68 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 alopecia, and has symptoms including nystagmus, urinary incontinence and dementia. An important gene associated with Carasil Syndrome is HTRA1 (HtrA Serine Peptidase 1). Affiliated tissues include skin.

Genetics Home Reference:24 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:46 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:50 Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy is a nonhypertensive... (600142) more...

GeneReviews summary for NBK32533

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
1cerebritis10.3
2alopecia10.1
3cadasil10.1
4leukodystrophy9.9
5dementia9.9
6artery disease9.9

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 nystagmus rare (5%) HP:0000639
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

UMLS symptoms related to Carasil Syndrome:


ataxia, low back pain, muscle rigidity, muscle spasticity, pyramidal sign, extrapyramidal sign, pseudobulbar signs

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 Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy25
2 Carasil23 HTRA1

Anatomical Context for Carasil Syndrome

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MalaCards organs/tissues related to Carasil Syndrome:

34
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:

68
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet