MCID: CRB170
MIFTS: 21

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

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

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

MalaCards integrated aliases for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2:

Name: Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 57 75 29 6
Cadasil2 57 75
Autosomal Dominant Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Type 2 12
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, 2 75
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, Autosomal Dominant, 2 75
Cadasil 2 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616779
Disease Ontology 12 DOID:0111036
ICD10 33 F01.1
MeSH 44 D046589
SNOMED-CT via HPO 69 263681008

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

OMIM : 57 Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 is a disorder of the small arterial vessels of the brain characterized by stroke, transient ischemic attacks (TIA), cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities and sometimes associated with multiple lacunar infarcts and microbleeds. Dilated perivascular spaces with a typical status cribrosum characterized by innumerable dilated Virchow-Robin spaces and resulting in a cribriform change in basal ganglia occur in most patients. CADASIL2 differs from CADASIL1 (125310) by a later age of onset (Verdura et al., 2015). (616779)

MalaCards based summary : Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2, is also known as cadasil2. An important gene associated with Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 is HTRA1 (HtrA Serine Peptidase 1). Affiliated tissues include brain, and related phenotypes are mental deterioration and recurrent subcortical infarcts

Disease Ontology : 12 A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has material basis in heterozygous mutation in the HTRA1 gene on chromosome 10q26.

UniProtKB/Swiss-Prot : 75 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2: A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke.

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

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
stroke
transient ischemic attacks
microbleeds
cognitive impairment
dementia
more

Clinical features from OMIM:

616779

Human phenotypes related to Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2:

32
# Description HPO Frequency HPO Source Accession
1 mental deterioration 32 HP:0001268
2 recurrent subcortical infarcts 32 HP:0007236
3 perivascular spaces 32 HP:0012520
4 status cribrosum 32 HP:0025012
5 hyperintensity of cerebral white matter on mri 32 HP:0030890

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

Search Clinical Trials , NIH Clinical Center for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2

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

Genetic tests related to Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2:

# Genetic test Affiliating Genes
1 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 29 HTRA1

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

MalaCards organs/tissues related to Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2:

41
Brain

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

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

UniProtKB/Swiss-Prot genetic disease variations for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2:

75
# Symbol AA change Variation ID SNP ID
1 HTRA1 p.Ser121Arg VAR_076373
2 HTRA1 p.Ala123Ser VAR_076374
3 HTRA1 p.Arg133Gly VAR_076375
4 HTRA1 p.Arg166Leu VAR_076376 rs864622781
5 HTRA1 p.Ala173Pro VAR_076377 rs781563777
6 HTRA1 p.Ser284Gly VAR_076378
7 HTRA1 p.Ser284Arg VAR_076379 rs864622782
8 HTRA1 p.Pro285Gln VAR_076380
9 HTRA1 p.Phe286Val VAR_076381

ClinVar genetic disease variations for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 HTRA1 NM_002775.4(HTRA1): c.497G> T (p.Arg166Leu) single nucleotide variant Pathogenic rs864622781 GRCh37 Chromosome 10, 124248442: 124248442
2 HTRA1 NM_002775.4(HTRA1): c.497G> T (p.Arg166Leu) single nucleotide variant Pathogenic rs864622781 GRCh38 Chromosome 10, 122488926: 122488926
3 HTRA1 NM_002775.4(HTRA1): c.517G> C (p.Ala173Pro) single nucleotide variant Pathogenic rs781563777 GRCh37 Chromosome 10, 124248462: 124248462
4 HTRA1 NM_002775.4(HTRA1): c.517G> C (p.Ala173Pro) single nucleotide variant Pathogenic rs781563777 GRCh38 Chromosome 10, 122488946: 122488946
5 HTRA1 NM_002775.4(HTRA1): c.852C> A (p.Ser284Arg) single nucleotide variant Pathogenic rs864622782 GRCh38 Chromosome 10, 122506765: 122506765
6 HTRA1 NM_002775.4(HTRA1): c.852C> A (p.Ser284Arg) single nucleotide variant Pathogenic rs864622782 GRCh37 Chromosome 10, 124266281: 124266281
7 HTRA1 NM_002775.4(HTRA1): c.973_1005del33 single nucleotide variant Pathogenic rs864622783 GRCh38 Chromosome 10, 122507369: 122507369
8 HTRA1 NM_002775.4(HTRA1): c.973_1005del33 single nucleotide variant Pathogenic rs864622783 GRCh37 Chromosome 10, 124266885: 124266885
9 HTRA1 NM_002775.4(HTRA1): c.359G> A (p.Gly120Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 124221527: 124221527
10 HTRA1 NM_002775.4(HTRA1): c.359G> A (p.Gly120Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 122462011: 122462011
11 HTRA1 NM_002775.4(HTRA1): c.536T> A (p.Ile179Asn) single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 122488965: 122488965
12 HTRA1 NM_002775.4(HTRA1): c.536T> A (p.Ile179Asn) single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 124248481: 124248481
13 HTRA1 NM_002775.4(HTRA1): c.543delT (p.Ala182Profs) deletion Pathogenic GRCh38 Chromosome 10, 122488972: 122488972
14 HTRA1 NM_002775.4(HTRA1): c.543delT (p.Ala182Profs) deletion Pathogenic GRCh37 Chromosome 10, 124248488: 124248488
15 HTRA1 NM_002775.4(HTRA1): c.767T> C (p.Ile256Thr) single nucleotide variant Pathogenic rs201305795 GRCh38 Chromosome 10, 122489616: 122489616
16 HTRA1 NM_002775.4(HTRA1): c.767T> C (p.Ile256Thr) single nucleotide variant Pathogenic rs201305795 GRCh37 Chromosome 10, 124249132: 124249132
17 HTRA1 NM_002775.4(HTRA1): c.827G> C (p.Gly276Ala) single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 124266256: 124266256
18 HTRA1 NM_002775.4(HTRA1): c.827G> C (p.Gly276Ala) single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 122506740: 122506740
19 HTRA1 NM_002775.4(HTRA1): c.865C> T (p.Gln289Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 124266294: 124266294
20 HTRA1 NM_002775.4(HTRA1): c.865C> T (p.Gln289Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 122506778: 122506778
21 HTRA1 NM_002775.4(HTRA1): c.971A> C (p.Asn324Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 122506884: 122506884
22 HTRA1 NM_002775.4(HTRA1): c.971A> C (p.Asn324Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 124266400: 124266400

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

Search GEO for disease gene expression data for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2.

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

GO Terms for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical...

Sources for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical...

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