ITCMDBv1
DiseaseID 11131

伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病

disease

NCI2016_02D:A hereditary cerebrovascular disorder caused by mutations in the Notch 3 gene. It is characterized by alterations of the muscular wall of the small vessels in the brain, resulting in transient ischemic attack

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Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.

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Disease: 1Symptom: 12Target: 19Links: 36
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Record Fields

Scalar fields from the final disease record.

Disease Id
11131
Core Entity Id
68462
Source Entity Count
1
Preferred Name
Cadasilm
Name Cn
伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病
Name Pinyin
Ban You Pi Zhi Xia Geng Si He Bai Zhi Nao Bing De Chang Ran Se Ti Xian Xing Yi Chuan Xing Nao Dong Mai Bing
Name En
Cadasilm
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsCardiovascular Diseases; Nervous System Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
Do Class
disease of anatomical entitydisease of anatomical entity; genetic disease
Hpo Class
Mesh Class Name
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
Hpo Class Name
Do Class Name
disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Definition
NCI2016_02D:A hereditary cerebrovascular disorder caused by mutations in the Notch 3 gene. It is characterized by alterations of the muscular wall of the small vessels in the brain, resulting in transient ischemic attacks. It may lead to cognitive problems and dementia.|MSH2017_2016_08_12: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)
Version
v1,v2
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Cadasilm
Role
preferred
Name
CADASIL Syndrome
Role
preferred
Name
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
Role
preferred
Name
Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts And Leukoencephalopathy
Role
preferred
Name
Cadasil
Role
alias
Name
Cadasil 1
Role
alias
Name
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS011371HBDIS014249HBDIS015692HBDIS027302
Me Sh
D046589
Omim
125310600142
Umls
C0751587
Med Dra
10065551
Sym Map
SMDE03092
Do Class
DOID:630DOID:7
Dis Ge Net
C0751587C1449626C1838577C4551768
Orphanet
136
Umls Sty
T047
Me Sh Class
C05C10C14C16C17C23
Etcm Disease
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1
Tcmbank Disease
1483203652526911
Itcmdb Generated
ITX-DISEASE-0B3E219F0315

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2
Suppress
0
Page Title
Disease Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 Details page
Do Class Name
disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Definition
NCI2016_02D:A hereditary cerebrovascular disorder caused by mutations in the Notch 3 gene. It is characterized by alterations of the muscular wall of the small vessels in the brain, resulting in transient ischemic attacks. It may lead to cognitive problems and dementia.|MSH2017_2016_08_12: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)
Me Sh Disease Class
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsCardiovascular Diseases; Nervous System Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
Umls Semantic Type Name
Disease or Syndrome