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

Aliases & Descriptions for Carasil Syndrome:

Name: Carasil Syndrome 54 66 13
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 50 24 25 56 29 69
Maeda Syndrome 23 50 24 25 56 66
Carasil 23 50 24 25 56 66
Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 54 66
Subcortical Vascular Encephalopathy, Progressive 50 66
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 50
Cerebrovascular Disease with Thin Skin, Alopecia, and Disk Disease 66
Progressive Subcortical Vascular Encephalopathy 66
Nemoto Disease 25

Characteristics:

Orphanet epidemiological data:

56
carasil
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: adult;

HPO:

32
carasil syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 600142
Orphanet 56 ORPHA199354
ICD10 via Orphanet 34 F01.1
MedGen 40 C1838577
MeSH 42 D015140

Summaries for Carasil Syndrome

UniProtKB/Swiss-Prot : 66 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, abnormality of extrapyramidal motor function and pseudobulbar signs. 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 : 50 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 : 54 Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy is a nonhypertensive... (600142) more...

GeneReviews: NBK32533

Related Diseases for Carasil Syndrome

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

id Related Disease Score Top Affiliating Genes
1 cerebritis 10.2
2 alopecia 10.0
3 cadasil 10.0
4 encephalopathy 9.8
5 artery disease 9.8
6 leukodystrophy 9.7
7 dementia 9.7

Graphical network of the top 20 diseases related to Carasil Syndrome:



Diseases related to Carasil Syndrome

Symptoms & Phenotypes for Carasil Syndrome

Symptoms by clinical synopsis from OMIM:

600142

Clinical features from OMIM:

600142

Human phenotypes related to Carasil Syndrome:

32 (show all 19)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 abnormality of extrapyramidal motor function 32 HP:0002071
3 pseudobulbar signs 32 HP:0002200
4 low back pain 32 HP:0003419
5 nystagmus 32 HP:0000639
6 spasticity 32 HP:0001257
7 dysarthria 32 HP:0001260
8 gait disturbance 32 HP:0001288
9 hyperreflexia 32 HP:0001347
10 babinski sign 32 HP:0003487
11 rigidity 32 HP:0002063
12 dementia 32 HP:0000726
13 alopecia 32 HP:0001596
14 progressive encephalopathy 32 HP:0002448
15 diffuse white matter abnormalities 32 HP:0007204
16 urinary incontinence 32 HP:0000020
17 arteriosclerosis of small cerebral arteries 32 HP:0004931
18 leukoencephalopathy 32 HP:0002352
19 diffuse demyelination of the cerebral white matter 32 HP:0007162

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

Search Clinical Trials , NIH Clinical Center for Carasil Syndrome

Genetic Tests for Carasil Syndrome

Genetic tests related to Carasil Syndrome:

id Genetic test Affiliating Genes
1 Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 29
2 Carasil 24 HTRA1

Anatomical Context for Carasil Syndrome

MalaCards organs/tissues related to Carasil Syndrome:

39
Skin

Publications for Carasil Syndrome

Articles related to Carasil Syndrome:

id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 HTRA1 p.Ala252Thr VAR_063148 rs113993968
2 HTRA1 p.Val297Met VAR_063149 rs113993969

ClinVar genetic disease variations for Carasil Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HTRA1 NM_002775.4(HTRA1): c.1108C> T (p.Arg370Ter) single nucleotide variant Pathogenic rs113993971 GRCh37 Chromosome 10, 124268274: 124268274
2 HTRA1 NM_002775.4(HTRA1): c.904C> T (p.Arg302Ter) single nucleotide variant Pathogenic rs113993970 GRCh37 Chromosome 10, 124266333: 124266333
3 HTRA1 NM_002775.4(HTRA1): c.889G> A (p.Val297Met) single nucleotide variant Pathogenic rs113993969 GRCh37 Chromosome 10, 124266318: 124266318
4 HTRA1 NM_002775.4(HTRA1): c.754G> A (p.Ala252Thr) single nucleotide variant Pathogenic rs113993968 GRCh37 Chromosome 10, 124249119: 124249119
5 HTRA1 NM_002775.4(HTRA1): c.883G> A (p.Gly295Arg) single nucleotide variant Pathogenic rs587776873 GRCh37 Chromosome 10, 124266312: 124266312
6 HTRA1 NM_002775.4(HTRA1): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs587776445 GRCh38 Chromosome 10, 122506734: 122506734
7 HTRA1 NM_002775.4(HTRA1): c.1091T> C (p.Leu364Pro) single nucleotide variant Pathogenic rs587776447 GRCh37 Chromosome 10, 124268257: 124268257
8 HTRA1 NM_002775.4(HTRA1): c.126delG (p.Glu42Aspfs) deletion Pathogenic rs587776448 GRCh38 Chromosome 10, 122461778: 122461778
9 HTRA1 NM_002775.4(HTRA1): c.961G> A (p.Ala321Thr) single nucleotide variant Pathogenic rs587776449 GRCh38 Chromosome 10, 122506874: 122506874

Expression for Carasil Syndrome

Search GEO for disease gene expression data for Carasil Syndrome.

Pathways for Carasil Syndrome

GO Terms for Carasil Syndrome

Sources for Carasil Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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