MCID: CRS012
MIFTS: 29

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 51 69 12
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 47 24 25 53 26 67
Maeda Syndrome 23 47 24 25 53 69
Carasil 23 47 24 25 53 69
Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 51 69
Subcortical Vascular Encephalopathy, Progressive 47 69
 
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 47
Cerebrovascular Disease with Thin Skin, Alopecia, and Disk Disease 69
Progressive Subcortical Vascular Encephalopathy 69
Nemoto Disease 25

Characteristics:

Orphanet epidemiological data:

53
cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: adult

HPO:

63
carasil syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 600142
Orphanet53 ORPHA199354
ICD10 via Orphanet30 F01.1
MedGen36 C1838577
MeSH38 D015140

Summaries for Carasil Syndrome

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UniProtKB/Swiss-Prot:69 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:25 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:47 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:51 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
4artery disease9.8
5leukodystrophy9.7
6dementia9.7

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

Human phenotypes related to Carasil Syndrome:

 63 (show all 18)
id Description HPO Frequency HPO Source Accession
1 nystagmus63 rare (5%) HP:0000639
2 urinary incontinence63 HP:0000020
3 dementia63 HP:0000726
4 ataxia63 HP:0001251
5 spasticity63 HP:0001257
6 dysarthria63 HP:0001260
7 gait disturbance63 HP:0001288
8 hyperreflexia63 HP:0001347
9 alopecia63 HP:0001596
10 rigidity63 HP:0002063
11 abnormality of extrapyramidal motor function63 HP:0002071
12 pseudobulbar signs63 HP:0002200
13 progressive encephalopathy63 HP:0002448
14 low back pain63 HP:0003419
15 babinski sign63 HP:0003487
16 arteriosclerosis of small cerebral arteries63 HP:0004931
17 diffuse demyelination of the cerebral white matter63 HP:0007162
18 diffuse white matter abnormalities63 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 Leukoencephalopathy26
2 Carasil24 HTRA1

Anatomical Context for Carasil Syndrome

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MalaCards organs/tissues related to Carasil Syndrome:

35
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:

69
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.854C> T (p.Pro285Leu)SNVPathogenicrs587776446GRCh37Chr 10, 124266283: 124266283
3HTRA1NM_002775.4(HTRA1): c.1091T> C (p.Leu364Pro)SNVPathogenicrs587776447GRCh37Chr 10, 124268257: 124268257
4HTRA1NM_002775.4(HTRA1): c.961G> A (p.Ala321Thr)SNVPathogenicrs587776449GRCh38Chr 10, 122506874: 122506874
5HTRA1NM_002775.4(HTRA1): c.126delG (p.Glu42Aspfs)deletionPathogenicrs587776448GRCh38Chr 10, 122461778: 122461778
6HTRA1NM_002775.4(HTRA1): c.883G> A (p.Gly295Arg)SNVPathogenicrs587776873GRCh37Chr 10, 124266312: 124266312
7HTRA1NM_002775.4(HTRA1): c.1108C> T (p.Arg370Ter)SNVPathogenicrs113993971GRCh37Chr 10, 124268274: 124268274
8HTRA1NM_002775.4(HTRA1): c.904C> T (p.Arg302Ter)SNVPathogenicrs113993970GRCh37Chr 10, 124266333: 124266333
9HTRA1NM_002775.4(HTRA1): c.889G> A (p.Val297Met)SNVPathogenicrs113993969GRCh37Chr 10, 124266318: 124266318
10HTRA1NM_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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet