MCID: CRS012
MIFTS: 31

Carasil Syndrome

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

Aliases & Classifications for Carasil Syndrome

MalaCards integrated aliases for Carasil Syndrome:

Name: Carasil Syndrome 54 71 13
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 50 24 25 56 29 69
Maeda Syndrome 23 50 24 25 56 71
Carasil 23 50 24 25 56 71
Subcortical Vascular Encephalopathy, Progressive 50 71
Familial Young-Adult-Onset Arteriosclerotic Leukoencephalopathy with Alopecia and Lumbago Without Arterial Hypertension 25
Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 71
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 71
Progressive Subcortical Vascular Encephalopathy 71
Nemoto Disease 25

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in teens to late twenties (range 14 to 44 years)
rapidly progressive course
increased male to female ratio (7.5:1)


HPO:

32
carasil syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Carasil Syndrome

UniProtKB/Swiss-Prot : 71 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, dysarthria and ataxia. An important gene associated with Carasil Syndrome is HTRA1 (HtrA Serine Peptidase 1). Affiliated tissues include skin and brain.

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

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 : 54
Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy is a nonhypertensive cerebral small vessel arteriopathy characterized by alopecia, spondylosis, and progressive motor dysfunction and dementia. Onset is usually in the second or third decade (summary by Hara et al., 2009). (600142)

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 artery disease 9.8
4 leukodystrophy 9.8
5 dementia 9.8

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



Diseases related to Carasil Syndrome

Symptoms & Phenotypes for Carasil Syndrome

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
dysarthria
ataxia
hyperreflexia
spasticity
extensor plantar responses
more
Skeletal- Spine:
lower back pain
lumbago
lumbar disc herniation
spondylosis deformans

Cardiovascular- Vascular:
normal blood pressure
small cerebral arteries show arteriosclerotic changes
small cerebral arteries show fibrous intimal proliferation
severe hyalinosis
splitting of the intima and/or internal elastic membrane

Head And Neck- Eyes:
nystagmus (in some patients)

Genitourinary- Bladder:
incontinence

Skin Nails & Hair- Hair:
alopecia (occurs before neurologic signs, in some patients)


Clinical features from OMIM:

600142

Human phenotypes related to Carasil Syndrome:

32 (show all 19)
id Description HPO Frequency HPO Source Accession
1 nystagmus 32 occasional (7.5%) HP:0000639
2 dysarthria 32 HP:0001260
3 ataxia 32 HP:0001251
4 hyperreflexia 32 HP:0001347
5 spasticity 32 HP:0001257
6 alopecia 32 HP:0001596
7 rigidity 32 HP:0002063
8 urinary incontinence 32 HP:0000020
9 leukoencephalopathy 32 HP:0002352
10 dementia 32 HP:0000726
11 gait disturbance 32 HP:0001288
12 babinski sign 32 HP:0003487
13 pseudobulbar signs 32 HP:0002200
14 low back pain 32 HP:0003419
15 abnormality of extrapyramidal motor function 32 HP:0002071
16 progressive encephalopathy 32 HP:0002448
17 diffuse white matter abnormalities 32 HP:0007204
18 arteriosclerosis of small cerebral arteries 32 HP:0004931
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, Brain

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:

71
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

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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