CARASIL
MCID: CRB188
MIFTS: 31

Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy (CARASIL)

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

MalaCards integrated aliases for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy:

Name: Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 58 76
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 54 26 60 38 30 6 41 74
Maeda Syndrome 58 25 54 26 60 76
Carasil 58 25 54 26 60 76
Subcortical Vascular Encephalopathy, Progressive 58 54 76
Carasil Syndrome 58 76 13
Cerebrovascular Disease with Thin Skin, Alopecia, and Disc Disease 58 54
Familial Young-Adult-Onset Arteriosclerotic Leukoencephalopathy with Alopecia and Lumbago Without Arterial Hypertension 26
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts Leukoencephalopathy 25
Cerebrovascular Disease with Thin Skin, Alopecia, and Disk Disease 76
Progressive Subcortical Vascular Encephalopathy 76
Nemoto Disease 26

Characteristics:

Orphanet epidemiological data:

60
carasil
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: adult;

OMIM:

58
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:

33
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

NIH Rare Diseases : 54 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an inherited disorder in which damage to the small blood vessels in the brain leads to stroke and other impairments. Individuals with CARASIL usually develop symptoms between 20 and 30 years of age. Symptoms may include: muscle stiffness, personality changes, and memory loss. People with this disease may also experience dementia, hair loss (alopecia), and damage to the spinal column (spondylosis). CARASIL is caused by mutations in the HTRA1 gene. It is inherited in an autosomal recessive pattern. Although there is no specific treatment or cure, there can be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person�??s symptoms.

MalaCards based summary : Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy, also known as cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, is related to cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 and alopecia, and has symptoms including ataxia, abnormality of extrapyramidal motor function and pseudobulbar signs. An important gene associated with Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy is HTRA1 (HtrA Serine Peptidase 1). Affiliated tissues include skin, brain and eye, and related phenotypes are nystagmus and ataxia

Genetics Home Reference : 26 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments.

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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.

GeneReviews: NBK32533

Related Diseases for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

Diseases in the Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy family:

Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2

Diseases related to Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.3
2 alopecia 10.3
3 leukodystrophy 10.1
4 dementia 10.1

Symptoms & Phenotypes for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

Human phenotypes related to Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 occasional (7.5%) HP:0000639
2 ataxia 33 HP:0001251
3 spasticity 33 HP:0001257
4 dysarthria 33 HP:0001260
5 gait disturbance 33 HP:0001288
6 hyperreflexia 33 HP:0001347
7 alopecia 33 HP:0001596
8 babinski sign 33 HP:0003487
9 rigidity 33 HP:0002063
10 dementia 33 HP:0000726
11 stroke 33 HP:0001297
12 abnormality of extrapyramidal motor function 33 HP:0002071
13 progressive encephalopathy 33 HP:0002448
14 urinary incontinence 33 HP:0000020
15 diffuse white matter abnormalities 33 HP:0007204
16 pseudobulbar signs 33 HP:0002200
17 arteriosclerosis of small cerebral arteries 33 HP:0004931
18 leukoencephalopathy 33 HP:0002352
19 low back pain 33 HP:0003419
20 diffuse demyelination of the cerebral white matter 33 HP:0007162

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
spasticity
dysarthria
gait disturbance
hyperreflexia
more
Genitourinary Bladder:
incontinence

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)

Skeletal Spine:
lower back pain
lumbago
lumbar disc herniation
spondylosis deformans

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

Clinical features from OMIM:

600142

UMLS symptoms related to Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy:


ataxia, abnormality of extrapyramidal motor function, pseudobulbar signs, low back pain, muscle rigidity, muscle spasticity, abnormal pyramidal signs

Drugs & Therapeutics for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

Search Clinical Trials , NIH Clinical Center for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy

Genetic Tests for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

Genetic tests related to Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy:

# Genetic test Affiliating Genes
1 Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 30 HTRA1

Anatomical Context for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

MalaCards organs/tissues related to Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy:

42
Skin, Brain, Eye, Smooth Muscle

Publications for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

Articles related to Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy:

# Title Authors Year
1
Two novel HTRA1 mutations in a European CARASIL patient. ( 24500651 )
2014
2
A novel mutation of the high-temperature requirement A serine peptidase 1 (HTRA1) gene in a Chinese family with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). ( 23963851 )
2013
3
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification. ( 21215656 )
2011
4
A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population. ( 21115960 )
2010
5
A Chinese pedigree of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): clinical and radiological features. ( 19299137 )
2009
6
Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. ( 19387015 )
2009
7
Extensive loss of arterial medial smooth muscle cells and mural extracellular matrix in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). ( 18021191 )
2008

Variations for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

UniProtKB/Swiss-Prot genetic disease variations for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy:

76
# 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 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy:

6 (show all 30)
# 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.1108C> T (p.Arg370Ter) single nucleotide variant Pathogenic rs113993971 GRCh38 Chromosome 10, 122508758: 122508758
3 HTRA1 NM_002775.4(HTRA1): c.904C> T (p.Arg302Ter) single nucleotide variant Pathogenic rs113993970 GRCh37 Chromosome 10, 124266333: 124266333
4 HTRA1 NM_002775.4(HTRA1): c.904C> T (p.Arg302Ter) single nucleotide variant Pathogenic rs113993970 GRCh38 Chromosome 10, 122506817: 122506817
5 HTRA1 NM_002775.4(HTRA1): c.889G> A (p.Val297Met) single nucleotide variant Pathogenic rs113993969 GRCh37 Chromosome 10, 124266318: 124266318
6 HTRA1 NM_002775.4(HTRA1): c.889G> A (p.Val297Met) single nucleotide variant Pathogenic rs113993969 GRCh38 Chromosome 10, 122506802: 122506802
7 HTRA1 NM_002775.4(HTRA1): c.754G> A (p.Ala252Thr) single nucleotide variant Pathogenic rs113993968 GRCh37 Chromosome 10, 124249119: 124249119
8 HTRA1 NM_002775.4(HTRA1): c.754G> A (p.Ala252Thr) single nucleotide variant Pathogenic rs113993968 GRCh38 Chromosome 10, 122489603: 122489603
9 ARMS2; HTRA1 NM_002775.4(HTRA1): c.102C> T (p.Ala34=) single nucleotide variant Benign/Likely benign rs1049331 GRCh37 Chromosome 10, 124221270: 124221270
10 ARMS2; HTRA1 NM_002775.4(HTRA1): c.102C> T (p.Ala34=) single nucleotide variant Benign/Likely benign rs1049331 GRCh38 Chromosome 10, 122461754: 122461754
11 ARMS2; HTRA1 NM_002775.4(HTRA1): c.108G> C (p.Gly36=) single nucleotide variant Benign/Likely benign rs2293870 GRCh37 Chromosome 10, 124221276: 124221276
12 ARMS2; HTRA1 NM_002775.4(HTRA1): c.108G> C (p.Gly36=) single nucleotide variant Benign/Likely benign rs2293870 GRCh38 Chromosome 10, 122461760: 122461760
13 ARMS2; HTRA1 NM_002775.4(HTRA1): c.108G> T (p.Gly36=) single nucleotide variant Benign/Likely benign rs2293870 GRCh37 Chromosome 10, 124221276: 124221276
14 ARMS2; HTRA1 NM_002775.4(HTRA1): c.108G> T (p.Gly36=) single nucleotide variant Benign/Likely benign rs2293870 GRCh38 Chromosome 10, 122461760: 122461760
15 HTRA1 NM_002775.4(HTRA1): c.883G> A (p.Gly295Arg) single nucleotide variant Pathogenic rs587776873 GRCh37 Chromosome 10, 124266312: 124266312
16 HTRA1 NM_002775.4(HTRA1): c.883G> A (p.Gly295Arg) single nucleotide variant Pathogenic rs587776873 GRCh38 Chromosome 10, 122506796: 122506796
17 HTRA1 NM_002775.4(HTRA1): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs587776445 GRCh38 Chromosome 10, 122506734: 122506734
18 HTRA1 NM_002775.4(HTRA1): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs587776445 GRCh37 Chromosome 10, 124266250: 124266250
19 HTRA1 NM_002775.4(HTRA1): c.854C> T (p.Pro285Leu) single nucleotide variant Uncertain significance rs587776446 GRCh37 Chromosome 10, 124266283: 124266283
20 HTRA1 NM_002775.4(HTRA1): c.854C> T (p.Pro285Leu) single nucleotide variant Uncertain significance rs587776446 GRCh38 Chromosome 10, 122506767: 122506767
21 HTRA1 NM_002775.4(HTRA1): c.1091T> C (p.Leu364Pro) single nucleotide variant Pathogenic rs587776447 GRCh37 Chromosome 10, 124268257: 124268257
22 HTRA1 NM_002775.4(HTRA1): c.1091T> C (p.Leu364Pro) single nucleotide variant Pathogenic rs587776447 GRCh38 Chromosome 10, 122508741: 122508741
23 HTRA1 NM_002775.4(HTRA1): c.126delG (p.Glu42Aspfs) deletion Pathogenic rs587776448 GRCh38 Chromosome 10, 122461778: 122461778
24 HTRA1 NM_002775.4(HTRA1): c.126delG (p.Glu42Aspfs) deletion Pathogenic rs587776448 GRCh37 Chromosome 10, 124221294: 124221294
25 HTRA1 NM_002775.4(HTRA1): c.961G> A (p.Ala321Thr) single nucleotide variant Pathogenic rs587776449 GRCh38 Chromosome 10, 122506874: 122506874
26 HTRA1 NM_002775.4(HTRA1): c.961G> A (p.Ala321Thr) single nucleotide variant Pathogenic rs587776449 GRCh37 Chromosome 10, 124266390: 124266390
27 ARMS2; HTRA1 NM_002775.4(HTRA1): c.59C> T (p.Ala20Val) single nucleotide variant Benign/Likely benign rs369149111 GRCh37 Chromosome 10, 124221227: 124221227
28 ARMS2; HTRA1 NM_002775.4(HTRA1): c.59C> T (p.Ala20Val) single nucleotide variant Benign/Likely benign rs369149111 GRCh38 Chromosome 10, 122461711: 122461711
29 HTRA1 NM_002775.4(HTRA1): c.614C> G (p.Ser205Cys) single nucleotide variant Pathogenic rs1554950703 GRCh37 Chromosome 10, 124248979: 124248979
30 HTRA1 NM_002775.4(HTRA1): c.614C> G (p.Ser205Cys) single nucleotide variant Pathogenic rs1554950703 GRCh38 Chromosome 10, 122489463: 122489463

Expression for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

Search GEO for disease gene expression data for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy.

Pathways for Cerebral Arteriopathy, Autosomal Recessive, with Subcortical...

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