CARASIL
MCID: CRS012
MIFTS: 29

Carasil Syndrome (CARASIL) 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 52 70 12
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 48 24 25 54 27 68
Maeda Syndrome 23 48 24 25 54 70
Carasil 23 48 24 25 54 70
Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 52 70
Subcortical Vascular Encephalopathy, Progressive 48 70
 
Familial Young-Adult-Onset Arteriosclerotic Leukoencephalopathy with Alopecia and Lumbago Without Arterial Hypertension 25
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarctsleukoencephalopathy 23
Cerebrovascular Disease with Thin Skin, Alopecia, and Disc Disease 48
Cerebrovascular Disease with Thin Skin, Alopecia, and Disk Disease 70
Progressive Subcortical Vascular Encephalopathy 70
Nemoto Disease 25

Characteristics:

Orphanet epidemiological data:

54
cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: adult

HPO:

64
carasil syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 600142
Orphanet54 ORPHA199354
ICD10 via Orphanet31 F01.1
MedGen37 C1838577
MeSH39 D015140

Summaries for Carasil Syndrome

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UniProtKB/Swiss-Prot:70 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 ataxia, ataxia and low back pain. An important gene associated with Carasil Syndrome is HTRA1 (HtrA Serine Peptidase 1). Affiliated tissues include skin.

NIH Rare Diseases:48 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

Genetics Home Reference:25 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments.

OMIM:52 Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy is a nonhypertensive... (600142) more...

GeneReviews 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
1cerebritis10.2
2alopecia10.0
3cadasil10.0
4encephalopathy9.8
5artery disease9.8
6leukodystrophy9.7
7dementia9.7

Graphical network of diseases related to Carasil Syndrome:



Diseases related to carasil syndrome

Symptoms & Phenotypes for Carasil Syndrome

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Symptoms by clinical synopsis from OMIM:

600142

Clinical features from OMIM:

600142

Human phenotypes related to Carasil Syndrome:

 64 (show all 19)
id Description HPO Frequency HPO Source Accession
1 urinary incontinence64 HP:0000020
2 nystagmus64 HP:0000639
3 dementia64 HP:0000726
4 ataxia64 HP:0001251
5 spasticity64 HP:0001257
6 dysarthria64 HP:0001260
7 gait disturbance64 HP:0001288
8 hyperreflexia64 HP:0001347
9 alopecia64 HP:0001596
10 rigidity64 HP:0002063
11 abnormality of extrapyramidal motor function64 HP:0002071
12 pseudobulbar signs64 HP:0002200
13 leukoencephalopathy64 HP:0002352
14 progressive encephalopathy64 HP:0002448
15 low back pain64 HP:0003419
16 babinski sign64 HP:0003487
17 arteriosclerosis of small cerebral arteries64 HP:0004931
18 diffuse demyelination of the cerebral white matter64 HP:0007162
19 diffuse white matter abnormalities64 HP:0007204

UMLS symptoms related to Carasil Syndrome:


ataxia, low back pain, muscle rigidity, muscle spasticity, abnormal pyramidal signs, abnormality of extrapyramidal motor function, 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 Leukoencephalopathy27
2 Carasil24 HTRA1

Anatomical Context for Carasil Syndrome

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MalaCards organs/tissues related to Carasil Syndrome:

36
Skin

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:

70
id Symbol AA change Variation ID SNP ID
1HTRA1p.Ala252ThrVAR_063148rs113993968
2HTRA1p.Val297MetVAR_063149rs113993969

Clinvar genetic disease variations for Carasil Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1HTRA1NM_ 002775.4(HTRA1): c.821G> A (p.Arg274Gln)SNVPathogenicrs587776445GRCh38Chr 10, 122506734: 122506734
2HTRA1NM_ 002775.4(HTRA1): c.1091T> C (p.Leu364Pro)SNVPathogenicrs587776447GRCh37Chr 10, 124268257: 124268257
3HTRA1NM_ 002775.4(HTRA1): c.961G> A (p.Ala321Thr)SNVPathogenicrs587776449GRCh38Chr 10, 122506874: 122506874
4HTRA1NM_ 002775.4(HTRA1): c.126delG (p.Glu42Aspfs)deletionPathogenicrs587776448GRCh38Chr 10, 122461778: 122461778
5HTRA1NM_ 002775.4(HTRA1): c.883G> A (p.Gly295Arg)SNVPathogenicrs587776873GRCh37Chr 10, 124266312: 124266312
6HTRA1NM_ 002775.4(HTRA1): c.1108C> T (p.Arg370Ter)SNVPathogenicrs113993971GRCh37Chr 10, 124268274: 124268274
7HTRA1NM_ 002775.4(HTRA1): c.904C> T (p.Arg302Ter)SNVPathogenicrs113993970GRCh37Chr 10, 124266333: 124266333
8HTRA1NM_ 002775.4(HTRA1): c.889G> A (p.Val297Met)SNVPathogenicrs113993969GRCh37Chr 10, 124266318: 124266318
9HTRA1NM_ 002775.4(HTRA1): c.754G> A (p.Ala252Thr)SNVPathogenicrs113993968GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet