CADASIL2
MCID: CRB170
MIFTS: 35

Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 (CADASIL2)

Categories: Cardiovascular diseases, Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare 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 72 29 6
Cadasil 2 12 15
Cadasil2 57 72
Autosomal Dominant Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Type 2 12
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, 2 72
Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, Autosomal Dominant, 2 72
Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease 58
Htra1-Related Autosomal Dominant Cerebral Angiopathy 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111036
OMIM® 57 616779
OMIM Phenotypic Series 57 PS125310
MeSH 44 D046589
ICD10 32 F01.1
Orphanet 58 ORPHA482077

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) (Updated 20-May-2021)

MalaCards based summary : Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2, also known as cadasil 2, is related to spondylosis and pseudobulbar palsy. An important gene associated with Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 is HTRA1 (HtrA Serine Peptidase 1), and among its related pathways/superpathways is Angiogenesis (CST). Affiliated tissues include eye and heart, and related phenotypes are gait disturbance and transient ischemic attack

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 : 72 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...

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 Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 spondylosis 30.6 HTRA1 CRP
2 pseudobulbar palsy 29.8 NOTCH3 HTRA1
3 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 29.8 NOTCH3 HTRA1
4 vascular dementia 29.6 NOTCH3 CRP
5 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.3
6 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 10.3
7 alopecia 10.3
8 japanese spotted fever 10.1 HTRA1 CRP
9 ornithosis 10.1 HTRA1 CRP
10 endemic typhus 10.1 HTRA1 CRP
11 cat-scratch disease 10.1 HTRA1 CRP
12 bartonellosis 10.1 HTRA1 CRP
13 epidemic typhus 10.0 HTRA1 CRP
14 endocarditis 10.0 HTRA1 CRP
15 chlamydia 10.0 HTRA1 CRP
16 col4a1-related familial vascular leukoencephalopathy 10.0 NOTCH3 HTRA1
17 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations 10.0 NOTCH3 HTRA1
18 fabry disease 9.9 GLA CRP
19 lipid storage disease 9.9 GLA CRP
20 spotted fever 9.9 VWF HTRA1
21 capillary lymphangioma 9.9 VWF CRP
22 generalized atherosclerosis 9.9 VWF CRP
23 intracranial embolism 9.9 VWF CRP
24 inherited metabolic disorder 9.9 GLA CRP
25 active peptic ulcer disease 9.9 VWF CRP
26 hypertensive retinopathy 9.9 VWF CRP
27 thrombophlebitis 9.9 VWF CRP
28 aortic valve insufficiency 9.9 VWF CRP
29 mitral valve stenosis 9.9 VWF CRP
30 coronary thrombosis 9.9 VWF CRP
31 endocardium disease 9.9 VWF CRP
32 pulmonary artery disease 9.9 VWF CRP
33 intermediate coronary syndrome 9.9 VWF CRP
34 venous insufficiency 9.9 VWF CRP
35 hepatic vascular disease 9.9 VWF CRP
36 autoimmune disease of cardiovascular system 9.9 VWF CRP
37 intermittent claudication 9.9 VWF CRP
38 vein disease 9.9 VWF CRP
39 dementia 9.8
40 binswanger's disease 9.8
41 collagen disease 9.8 VWF CRP
42 carotid stenosis 9.8 VWF CRP
43 coronary stenosis 9.8 VWF CRP
44 purpura 9.8 VWF CRP
45 peripheral artery disease 9.8 VWF CRP
46 homocysteinemia 9.8 VWF CRP
47 disseminated intravascular coagulation 9.8 VWF CRP
48 antiphospholipid syndrome 9.8 VWF CRP
49 thrombocytosis 9.8 VWF CRP
50 intracranial berry aneurysm 9.8 VWF CRP

Graphical network of the top 20 diseases related to Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2:



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

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

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

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 gait disturbance 31 HP:0001288
2 transient ischemic attack 31 HP:0002326
3 mental deterioration 31 HP:0001268
4 headache 31 HP:0002315
5 dementia 31 HP:0000726
6 hyperintensity of cerebral white matter on mri 31 HP:0030890
7 perivascular spaces 31 HP:0012520
8 recurrent subcortical infarcts 31 HP:0007236
9 seizure 31 HP:0001250
10 status cribrosum 31 HP:0025012

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
gait disturbance
cognitive impairment
stroke
dementia
more

Clinical features from OMIM®:

616779 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.02 CRP GLA HTRA1 NOTCH3 VWF

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:

40
Eye, Heart

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

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

# Title Authors PMID Year
1
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. 57 6
26063658 2015
2
Cerebral Small Vessel Disease Related to a Heterozygous Nonsense Mutation in HTRA1. 6
32101834 2020
3
Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. 6
19387015 2009
4
Spontaneous intracerebral hemorrhage in CADASIL. 61
24344756 2013
5
Apoptosis in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 61
17620985 2007
6
Cerebral microbleeds in CADASIL: a gradient-echo magnetic resonance imaging and autopsy study. 61
11779891 2002
7
[Young-adult-onset hereditary subcortical vascular dementia: cerebral autosomal recessive arteriosclerosis with subcortical infarcts and leukoencephalopathy (CARASIL)]. 61
10377800 1999
8
[CADASIL: 2 case reports of hereditary multi-infarct dementia]. 61
9157051 1997

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

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

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HTRA1 NM_002775.5(HTRA1):c.852C>A (p.Ser284Arg) SNV Pathogenic 221230 rs864622782 GRCh37: 10:124266281-124266281
GRCh38: 10:122506765-122506765
2 HTRA1 NM_002775.5(HTRA1):c.497G>T (p.Arg166Leu) SNV Pathogenic 221228 rs864622781 GRCh37: 10:124248442-124248442
GRCh38: 10:122488926-122488926
3 HTRA1 NM_002775.5(HTRA1):c.973-1G>A SNV Pathogenic 221231 rs864622783 GRCh37: 10:124266885-124266885
GRCh38: 10:122507369-122507369
4 HTRA1 NM_002775.5(HTRA1):c.517G>C (p.Ala173Pro) SNV Pathogenic 221229 rs781563777 GRCh37: 10:124248462-124248462
GRCh38: 10:122488946-122488946
5 HTRA1 NM_002775.5(HTRA1):c.865C>T (p.Gln289Ter) SNV Pathogenic 523577 rs1554952291 GRCh37: 10:124266294-124266294
GRCh38: 10:122506778-122506778
6 HTRA1 NM_002775.5(HTRA1):c.543del (p.Ala182fs) Deletion Pathogenic 523574 rs1273355332 GRCh37: 10:124248488-124248488
GRCh38: 10:122488972-122488972
7 HTRA1 NM_002775.5(HTRA1):c.767T>C (p.Ile256Thr) SNV Pathogenic 523575 rs201305795 GRCh37: 10:124249132-124249132
GRCh38: 10:122489616-122489616
8 HTRA1 NM_002775.5(HTRA1):c.827G>C (p.Gly276Ala) SNV Likely pathogenic 523576 rs1554952277 GRCh37: 10:124266256-124266256
GRCh38: 10:122506740-122506740
9 HTRA1 NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter) SNV Likely pathogenic 7488 rs113993970 GRCh37: 10:124266333-124266333
GRCh38: 10:122506817-122506817
10 HTRA1 NM_002775.5(HTRA1):c.971A>C (p.Asn324Thr) SNV Likely pathogenic 523578 rs1267457680 GRCh37: 10:124266400-124266400
GRCh38: 10:122506884-122506884
11 HTRA1 NM_002775.5(HTRA1):c.359G>A (p.Gly120Asp) SNV Likely pathogenic 523572 rs1554948318 GRCh37: 10:124221527-124221527
GRCh38: 10:122462011-122462011
12 HTRA1 NM_002775.5(HTRA1):c.536T>A (p.Ile179Asn) SNV Likely pathogenic 523573 rs1554950655 GRCh37: 10:124248481-124248481
GRCh38: 10:122488965-122488965
13 HTRA1 NM_002775.5(HTRA1):c.138C>A (p.Cys46Ter) SNV Uncertain significance 976057 GRCh37: 10:124221306-124221306
GRCh38: 10:122461790-122461790
14 HTRA1 NM_002775.5(HTRA1):c.835G>A (p.Val279Met) SNV Uncertain significance 977743 GRCh37: 10:124266264-124266264
GRCh38: 10:122506748-122506748

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

72
# 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

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...

Pathways related to Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.57 VWF NOTCH3

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

Cellular components related to Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.02 VWF NOTCH3 HTRA1 GLA CRP

Molecular functions related to Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.92 VWF NOTCH3 HTRA1 CRP

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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