Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Cerebral Arterial Diseases (D002539)
Parent Node: Cerebral Small Vessel Diseases (D059345)
Parent Node: Dementia, Vascular (D015140)
Parent Node: Genetic Diseases, Inborn (D030342)
..Starting node ..CADASIL (D046589)
Child Nodes:
........Familial vascular leukoencephalopathy (C531642)
Sister Nodes:
..ACTH Deficiency, Isolated (C562707)
..Adrenal Hyperplasia, Congenital (D000312) 12
..Adrenocortical Hypofunction, Chronic Primary Congenital (C562711)
..Alagille Syndrome (D016738)
..alpha 1-Antitrypsin Deficiency (D019896) 1
..Alpha-2-Deficient Collagen Disease (C565963)
..Anemia, Hemolytic, Congenital (D000745) 68
..Anemia, Hypoplastic, Congenital (D029502) 27
..Angioedemas, Hereditary (D054179) 2
..Ataxia Telangiectasia (D001260) 6
..Atrial Standstill (C563984)
..Autoimmune Lymphoproliferative Syndrome (D056735) 5
..Blood Coagulation Disorders, Inherited (D025861) 70
..Brugada Syndrome (D053840) 9
..CADASIL (D046589) 1
..Camurati-Engelmann Syndrome (D003966) 4
..Cardiomyopathy, Hypertrophic, Familial (D024741) 15
..Cerebral Palsy, Ataxic, Autosomal Recessive (C562856)
..CHARGE Syndrome (D058747)
..Cherubism (D002636) 2
..Chromosome Disorders (D025063) 160
..Cirrhosis, Familial (C566123)
..Complement Factor I Deficiency (C572568)
..Corticosteroid-Binding Globulin Deficiency (C565152)
..Costello Syndrome (D056685)
..Cryoglobulinemia, Familial Mixed (C565141)
..Cystic Fibrosis (D003550) 4
..Donohue Syndrome (D056731) 1
..Dwarfism (D004392) 155
..Epistaxis, Hereditary (C562751)
..Eye Diseases, Hereditary (D015785) 373
..Frasier Syndrome (D052159)
..Genetic Diseases, X-Linked (D040181) 412
..Genetic Diseases, Y-Linked (D050174) 5
..Hajdu-Cheney Syndrome (D031845) 1
..Hemoglobinopathies (D006453) 23
..Hepatic Fibrosis, Congenital (C562378)
..Hereditary Autoinflammatory Diseases (D056660) 10
..Hereditary Myopathy with Early Respiratory Failure (C566343)
..Heredodegenerative Disorders, Nervous System (D020271) 543
..Histiocytosis, Familial Lipochrome (C562738)
..Hyper-IgM Immunodeficiency Syndrome (D053306) 3
..Hyperthyroxinemia, Familial Dysalbuminemic (D050010) 1
..Interstitial Pneumonitis, Desquamative, Familial (C562470)
..Kallmann Syndrome (D017436) 9
..Kartagener Syndrome (D007619) 6
..Lennox Gastaut Syndrome (D065768) 1
..Loeys-Dietz Syndrome (D055947) 5
..Marfan Syndrome (D008382) 9
..Metabolism, Inborn Errors (D008661) 886
..Muscular Dystrophies (D009136) 117
..Myasthenic Syndromes, Congenital (D020294) 15
..Nail-Patella Syndrome (D009261) 1
..Neoplastic Syndromes, Hereditary (D009386) 111
..Neutropenia, Nonimmune Chronic Idiopathic, Adult (C564320)
..Osteoarthropathy, Primary Hypertrophic (D010004) 2
..Osteogenesis Imperfecta (D010013) 27
..Pain Insensitivity, Congenital (D000699) 2
..Parotidomegaly, Hereditary Bilateral (C566821)
..Pelger-Huet Anomaly (D010381)
..Platelet Glycoprotein IV Deficiency (C564245)
..Polycystic Kidney, Autosomal Recessive (D017044) 3
..Prolactin Deficiency, Isolated (C562708)
..Pulmonary Alveolar Microlithiasis (C562405)
..Pycnodysostosis (D058631)
..Rh Deficiency Syndrome (C562717)
..Skin Diseases, Genetic (D012873) 462
..Weill-Marchesani Syndrome (D056846)
..Werner Syndrome (D014898) 1
..Yellow Nail Syndrome (D056684) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1559

Name:

CADASIL

Definition:

A familial, cerebral arteriopathy mapped to chromosome 19q12, and characterized by the presence of granular deposits in small CEREBRAL ARTERIES producing ischemic STROKE; PSEUDOBULBAR PALSY; and multiple subcortical infarcts (CEREBRAL INFARCTION). CADASIL is an acronym for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. CADASIL differs from BINSWANGER DISEASE by the presence of MIGRAINE WITH AURA and usually by the lack of history of arterial HYPERTENSION. (From Bradley et al, Neurology in Clinical Practice, 2000, p1146)

Alternative IDs:

OMIM:125310

ParentIDs:

MESH:D002539|MESH:D015140|MESH:D030342|MESH:D059345

TreeNumbers:

C10.228.140.300.275.249 |C10.228.140.300.400.203 |C10.228.140.300.510.200.175 |C10.228.140.380.230.124 |C14.907.253.329.249 |C14.907.253.560.200.175 |C16.320.129

Synonyms:

CADASILM |CASIL |CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY |Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy |Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leu

Slim Mappings:

Cardiovascular disease|Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: D046589
MeSH: D046589
OMIM: 125310;

Genes: NOTCH3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0000512	Abnormal electroretinogram
4	HP:0000951	Abnormality of the skin
5	HP:0000649	Abnormality of visual evoked potentials
6	HP:0000708	Behavioral abnormality	HP:0040284
7	HP:0001288	Gait disturbance
8	HP:0002352	Leukoencephalopathy
9	HP:0002076	Migraine
10	HP:0007634	Nonarteritic anterior ischemic optic neuropathy
11	HP:0009830	Peripheral neuropathy	HP:0040283
12	HP:0007024	Pseudobulbar paralysis
13	HP:0007236	Recurrent subcortical infarcts
14	HP:0001250	Seizure
15	HP:0001297	Stroke
16	HP:0007123	Subcortical dementia
17	HP:0000020	Urinary incontinence
18	HP:0002619	Varicose veins
19	HP:0000572	Visual loss	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000435.2(NOTCH3):c.3691C>T (p.Arg1231Cys)	4854	NOTCH3	Pathogenic	201680145	RCV000200615;	N	MedGen:C1272305,OMIM:125310,SNOMED CT:390936003	19	15289863	15289863	NM_000435.2:c.3691C>T	NP_000426.2:p.Arg1231Cys	NC_000019.9:g.15289863G>A	-	C1272305 125310 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
NM_000435.2(NOTCH3):c.3058G>C (p.Ala1020Pro)	4854	NOTCH3	Pathogenic	35769976	RCV000009808;	N	MedGen:C1272305,OMIM:125310,SNOMED CT:390936003	19	15291576	15291576	NM_000435.2:c.3058G>C	NP_000426.2:p.Ala1020Pro	NC_000019.9:g.15291576C>G	OMIM Allelic Variant:600276.0010	C1272305 125310 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
NM_000435.2(NOTCH3):c.2411_2566del156	4854	NOTCH3	Pathogenic	864621966	RCV000009807;	N	MedGen:C1272305,OMIM:125310,SNOMED CT:390936003	19	15295262	15295262	NM_000435.2:c.2411_2566del156		NC_000019.9:g.15295262C>A	OMIM Allelic Variant:600276.0009	C1272305 125310 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
NM_000435.2(NOTCH3):c.1363T>C (p.Cys455Arg)	4854	NOTCH3	Pathogenic	28933698	RCV000009804;	N	MedGen:C1272305,OMIM:125310,SNOMED CT:390936003	19	15299815	15299815	NM_000435.2:c.1363T>C	NP_000426.2:p.Cys455Arg	NC_000019.9:g.15299815A>G	OMIM Allelic Variant:600276.0006	C1272305 125310 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
NM_000435.2(NOTCH3):c.1282T>A (p.Cys428Ser)	4854	NOTCH3	Pathogenic	267606915	RCV000009809;	N	MedGen:C1272305,OMIM:125310,SNOMED CT:390936003	19	15299896	15299896	NM_000435.2:c.1282T>A	NP_000426.2:p.Cys428Ser	NC_000019.9:g.15299896A>T	OMIM Allelic Variant:600276.0011	C1272305 125310 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
NM_000435.2(NOTCH3):c.1187C>G (p.Ser396Cys)	4854	NOTCH3	Pathogenic	863225297	RCV000201951;	N	MedGen:C1272305,OMIM:125310,SNOMED CT:390936003	19	15300089	15300089	NM_000435.2:c.1187C>G	NP_000426.2:p.Ser396Cys	NC_000019.9:g.15300089G>C	-	C1272305 125310 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
NM_000435.2(NOTCH3):c.994C>T (p.Arg332Cys)	4854	NOTCH3	Pathogenic	137852641	RCV000009805;	N	MedGen:C1272305,OMIM:125310,SNOMED CT:390936003	19	15302277	15302277	NM_000435.2:c.994C>T	NP_000426.2:p.Arg332Cys	NC_000019.9:g.15302277G>A	OMIM Allelic Variant:600276.0007	C1272305 125310 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
NM_000435.2(NOTCH3):c.714_758del45 (p.Asp239_Asp253del)	4854	NOTCH3	Pathogenic	864621965	RCV000009803;	N	MedGen:C1272305,OMIM:125310,SNOMED CT:390936003	19	15302600	15302644	NM_000435.2:c.714_758del45	NP_000426.2:p.Asp239_Asp253del	NC_000019.9:g.15302600_15302644del45	OMIM Allelic Variant:600276.0005	C1272305 125310 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
NM_000435.2(NOTCH3):c.544C>T (p.Arg182Cys)	4854	NOTCH3	Pathogenic	28933697	RCV000009801;	N	MedGen:C1272305,OMIM:125310,SNOMED CT:390936003	19	15302906	15302906	NM_000435.2:c.544C>T	NP_000426.2:p.Arg182Cys	NC_000019.9:g.15302906G>A	OMIM Allelic Variant:600276.0003	C1272305 125310 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
NM_000435.2(NOTCH3):c.505C>T (p.Arg169Cys)	4854	NOTCH3	Pathogenic	28933696	RCV000009800;	N	MedGen:C1272305,OMIM:125310,SNOMED CT:390936003	19	15302945	15302945	NM_000435.2:c.505C>T	NP_000426.2:p.Arg169Cys	NC_000019.9:g.15302945G>A	OMIM Allelic Variant:600276.0002	C1272305 125310 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
NM_000435.2(NOTCH3):c.457C>T (p.Arg153Cys)	4854	NOTCH3	Pathogenic	797045014	RCV000190514;	N	MedGen:C1272305,OMIM:125310,SNOMED CT:390936003	19	15302993	15302993	NM_000435.2:c.457C>T	NP_000426.2:p.Arg153Cys	NC_000019.9:g.15302993G>A	-	C1272305 125310 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
NM_000435.2(NOTCH3):c.451C>G (p.Gln151Glu)	4854	NOTCH3	Pathogenic	371491165	RCV000087309;	N	MedGen:C1272305,OMIM:125310,SNOMED CT:390936003	19	15302999	15302999	NM_000435.2:c.451C>G	NP_000426.2:p.Gln151Glu	NC_000019.9:g.15302999G>C	-	C1272305 125310 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
NM_000435.2(NOTCH3):c.397C>T (p.Arg133Cys)	4854	NOTCH3	Pathogenic	137852642	RCV000009806;	N	MedGen:C1272305,OMIM:125310,SNOMED CT:390936003	19	15303053	15303053	NM_000435.2:c.397C>T	NP_000426.2:p.Arg133Cys	NC_000019.9:g.15303053G>A	OMIM Allelic Variant:600276.0008	C1272305 125310 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
NM_000435.2(NOTCH3):c.213G>T (p.Trp71Cys)	4854	NOTCH3	Pathogenic	28937321	RCV000009799;	N	MedGen:C1272305,OMIM:125310,SNOMED CT:390936003	19	15303315	15303315	NM_000435.2:c.213G>T	NP_000426.2:p.Trp71Cys	NC_000019.9:g.15303315C>A	OMIM Allelic Variant:600276.0001	C1272305 125310 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
NM_000435.2(NOTCH3):c.187G>A (p.Ala63Thr)	4854	NOTCH3	Pathogenic	864621964	RCV000009802;	N	MedGen:C1272305,OMIM:125310,SNOMED CT:390936003	19	15308321	15308321	NM_000435.2:c.187G>A	NP_000426.2:p.Ala63Thr	NC_000019.9:g.15308321C>T	OMIM Allelic Variant:600276.0004	C1272305 125310 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy